Incidental Mutation 'R0281:Ryr3'
ID 37495
Institutional Source Beutler Lab
Gene Symbol Ryr3
Ensembl Gene ENSMUSG00000057378
Gene Name ryanodine receptor 3
Synonyms calcium release channel isoform 3
MMRRC Submission 038503-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.402) question?
Stock # R0281 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 112461700-113047441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112517155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 3303 (S3303P)
Ref Sequence ENSEMBL: ENSMUSP00000147196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080673] [ENSMUST00000091818] [ENSMUST00000134358] [ENSMUST00000208151] [ENSMUST00000208290]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000080673
AA Change: S3303P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079503
Gene: ENSMUSG00000057378
AA Change: S3303P

DomainStartEndE-ValueType
low complexity region 90 99 N/A INTRINSIC
MIR 100 155 3.27e-4 SMART
MIR 162 207 7.52e-4 SMART
MIR 215 269 8.06e-4 SMART
MIR 275 368 8.4e-25 SMART
Pfam:RYDR_ITPR 438 642 1.1e-71 PFAM
SPRY 657 795 1.16e-24 SMART
Pfam:RyR 848 942 1.5e-34 PFAM
Pfam:RyR 962 1056 1.2e-32 PFAM
SPRY 1084 1207 7.99e-37 SMART
SPRY 1325 1465 6.25e-30 SMART
low complexity region 1757 1772 N/A INTRINSIC
low complexity region 1773 1788 N/A INTRINSIC
low complexity region 1932 1957 N/A INTRINSIC
Pfam:RYDR_ITPR 2018 2228 1.8e-59 PFAM
Pfam:RyR 2595 2689 1.2e-36 PFAM
Pfam:RyR 2713 2801 2.1e-31 PFAM
low complexity region 2877 2887 N/A INTRINSIC
low complexity region 3169 3184 N/A INTRINSIC
low complexity region 3327 3338 N/A INTRINSIC
PDB:2BCX|B 3462 3491 9e-12 PDB
low complexity region 3532 3540 N/A INTRINSIC
coiled coil region 3585 3614 N/A INTRINSIC
Pfam:RIH_assoc 3715 3848 4.9e-40 PFAM
low complexity region 3855 3875 N/A INTRINSIC
SCOP:d1sra__ 3893 3989 1e-10 SMART
low complexity region 4096 4134 N/A INTRINSIC
transmembrane domain 4178 4200 N/A INTRINSIC
Pfam:RR_TM4-6 4227 4497 4.7e-96 PFAM
Pfam:Ion_trans 4599 4762 2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091818
AA Change: S3323P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089426
Gene: ENSMUSG00000057378
AA Change: S3323P

DomainStartEndE-ValueType
low complexity region 110 119 N/A INTRINSIC
MIR 120 175 3.27e-4 SMART
MIR 182 227 7.52e-4 SMART
MIR 235 289 8.06e-4 SMART
MIR 295 388 8.4e-25 SMART
Pfam:RYDR_ITPR 460 655 1.2e-64 PFAM
SPRY 677 815 1.16e-24 SMART
Pfam:RyR 869 959 3.3e-38 PFAM
Pfam:RyR 983 1073 2.5e-32 PFAM
SPRY 1104 1227 7.99e-37 SMART
SPRY 1345 1485 6.25e-30 SMART
low complexity region 1777 1792 N/A INTRINSIC
low complexity region 1793 1808 N/A INTRINSIC
low complexity region 1952 1977 N/A INTRINSIC
Pfam:RYDR_ITPR 2040 2248 5.8e-67 PFAM
Pfam:RyR 2616 2706 6.3e-33 PFAM
Pfam:RyR 2734 2818 6.6e-26 PFAM
low complexity region 2897 2907 N/A INTRINSIC
low complexity region 3189 3204 N/A INTRINSIC
PDB:2BCX|B 3487 3516 1e-11 PDB
low complexity region 3557 3565 N/A INTRINSIC
coiled coil region 3610 3639 N/A INTRINSIC
Pfam:RIH_assoc 3744 3862 3.5e-34 PFAM
low complexity region 3880 3900 N/A INTRINSIC
SCOP:d1sra__ 3918 4014 1e-10 SMART
low complexity region 4121 4159 N/A INTRINSIC
transmembrane domain 4203 4225 N/A INTRINSIC
Pfam:RR_TM4-6 4252 4522 1.1e-98 PFAM
Pfam:Ion_trans 4625 4799 6.2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134358
AA Change: S3303P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208151
AA Change: S3303P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000208290
AA Change: S3303P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.5694 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (104/106)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired muscle contraction at an early age, changes in hippocampal synaptic plasticity, increased locomotor activity with a tendency to circle, and impaired relearning of a spatial task. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(5) Targeted, other(2) Gene trapped(3)

Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,464,304 (GRCm39) R374* probably null Het
5930422O12Rik A T 8: 33,919,407 (GRCm39) R76* probably null Het
A1cf G A 19: 31,923,214 (GRCm39) A505T probably benign Het
Abcc5 T A 16: 20,241,150 (GRCm39) I12F probably damaging Het
Abcf2 T C 5: 24,771,562 (GRCm39) E555G probably damaging Het
Acan A T 7: 78,750,033 (GRCm39) E1601D probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam2 T A 14: 66,275,055 (GRCm39) K559N probably benign Het
Akap11 A C 14: 78,747,529 (GRCm39) D1619E possibly damaging Het
Ankrd11 T C 8: 123,622,307 (GRCm39) D515G probably benign Het
Ankrd27 T A 7: 35,318,796 (GRCm39) N562K probably damaging Het
Atp10b T C 11: 43,044,131 (GRCm39) I119T probably benign Het
Atr T C 9: 95,819,619 (GRCm39) I2202T probably benign Het
Bltp2 C T 11: 78,162,750 (GRCm39) L871F possibly damaging Het
Brd4 T A 17: 32,432,514 (GRCm39) probably benign Het
Catsperg2 C T 7: 29,405,996 (GRCm39) C634Y possibly damaging Het
Cep192 A G 18: 67,961,553 (GRCm39) probably benign Het
Cfap65 T A 1: 74,966,230 (GRCm39) I366F probably damaging Het
Cnga4 G T 7: 105,056,875 (GRCm39) R326L probably damaging Het
Cntnap5b T A 1: 99,999,878 (GRCm39) M212K probably benign Het
Col6a6 T A 9: 105,661,315 (GRCm39) M265L probably benign Het
Cspg4b A T 13: 113,505,677 (GRCm39) I727F probably damaging Het
Cyp26b1 A T 6: 84,551,538 (GRCm39) F417Y probably damaging Het
Dhx15 A T 5: 52,308,088 (GRCm39) M768K probably benign Het
Drc7 G A 8: 95,797,881 (GRCm39) R433H possibly damaging Het
Duox2 C T 2: 122,122,785 (GRCm39) V550M probably benign Het
Elmo2 A G 2: 165,138,810 (GRCm39) L456P probably damaging Het
Fbxo39 T C 11: 72,208,356 (GRCm39) I236T probably benign Het
Fezf2 A G 14: 12,343,977 (GRCm38) C305R probably damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Gm12253 T C 11: 58,330,838 (GRCm39) probably benign Het
Gnat2 T A 3: 108,002,878 (GRCm39) Y95* probably null Het
Gopc T C 10: 52,226,774 (GRCm39) K220E probably damaging Het
Hectd4 G A 5: 121,392,314 (GRCm39) D193N possibly damaging Het
Hexa G A 9: 59,461,509 (GRCm39) probably null Het
Hspa4l T C 3: 40,739,840 (GRCm39) probably benign Het
Hspa5 T C 2: 34,664,332 (GRCm39) S301P probably damaging Het
Ice1 A T 13: 70,752,166 (GRCm39) S1307T possibly damaging Het
Igtp T C 11: 58,096,880 (GRCm39) L17P probably damaging Het
Itk T C 11: 46,244,743 (GRCm39) Y225C probably damaging Het
Kifc3 A G 8: 95,830,088 (GRCm39) V560A probably damaging Het
Lama1 A G 17: 68,124,564 (GRCm39) N2875D probably damaging Het
Lasp1 C A 11: 97,697,677 (GRCm39) C32* probably null Het
Lcp2 T A 11: 34,019,854 (GRCm39) probably benign Het
Lhx9 C T 1: 138,760,642 (GRCm39) G236D probably benign Het
Lrrc38 A T 4: 143,076,979 (GRCm39) I81F probably damaging Het
Ly6a C T 15: 74,867,236 (GRCm39) V94M probably benign Het
Map3k13 A G 16: 21,732,907 (GRCm39) E503G probably damaging Het
Mertk T C 2: 128,624,541 (GRCm39) probably benign Het
Mrtfb T A 16: 13,230,027 (GRCm39) I915N probably damaging Het
Msantd2 G A 9: 37,434,515 (GRCm39) D252N possibly damaging Het
Mtmr12 T A 15: 12,257,792 (GRCm39) L290* probably null Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Naglu T A 11: 100,964,853 (GRCm39) N313K probably damaging Het
Nceh1 T C 3: 27,276,953 (GRCm39) V92A possibly damaging Het
Ncf4 A G 15: 78,135,083 (GRCm39) T47A probably damaging Het
Nrp1 T A 8: 129,187,164 (GRCm39) F403L probably damaging Het
Nxph3 T C 11: 95,402,082 (GRCm39) T111A possibly damaging Het
Obscn T A 11: 58,929,441 (GRCm39) E6061V probably damaging Het
Obsl1 C A 1: 75,469,571 (GRCm39) G1149W probably damaging Het
Or14c39 A G 7: 86,344,068 (GRCm39) T135A probably benign Het
Or2k2 A T 4: 58,784,981 (GRCm39) V247E probably damaging Het
Or2p2 T A 13: 21,256,544 (GRCm39) Y309F probably benign Het
Or5b123 A G 19: 13,596,849 (GRCm39) T65A probably benign Het
Or5d14 C T 2: 87,880,756 (GRCm39) V71I possibly damaging Het
Or5p68 A C 7: 107,946,121 (GRCm39) D22E probably benign Het
Or6c70 T A 10: 129,710,415 (GRCm39) L70F possibly damaging Het
Pde9a T C 17: 31,674,080 (GRCm39) V55A probably damaging Het
Pip4k2c A T 10: 127,041,690 (GRCm39) probably null Het
Plvap T C 8: 71,964,026 (GRCm39) N112S probably damaging Het
Pop1 T A 15: 34,530,004 (GRCm39) probably null Het
Ppip5k2 T C 1: 97,644,278 (GRCm39) H1113R possibly damaging Het
Ptprk A T 10: 28,449,388 (GRCm39) I962F probably damaging Het
Rad51ap2 T C 12: 11,507,043 (GRCm39) S322P possibly damaging Het
Rasal1 A G 5: 120,812,670 (GRCm39) T565A probably benign Het
Rbm15 C A 3: 107,238,471 (GRCm39) R642S probably damaging Het
Rpsa G A 9: 119,960,069 (GRCm39) E211K possibly damaging Het
Scg2 T A 1: 79,413,229 (GRCm39) N458I possibly damaging Het
Setx A G 2: 29,069,655 (GRCm39) T2487A probably benign Het
Slc4a5 G A 6: 83,244,549 (GRCm39) probably benign Het
Slc8a2 T A 7: 15,874,914 (GRCm39) D387E probably benign Het
Smarcc2 A G 10: 128,310,591 (GRCm39) T407A probably benign Het
Snap25 A G 2: 136,619,384 (GRCm39) D179G probably damaging Het
Socs4 T C 14: 47,527,325 (GRCm39) S74P probably benign Het
Sp6 T A 11: 96,912,751 (GRCm39) Y155N probably benign Het
Srrt C T 5: 137,294,389 (GRCm39) probably benign Het
Steap1 C T 5: 5,786,431 (GRCm39) M335I probably benign Het
Stra6 A T 9: 58,052,772 (GRCm39) Y250F probably benign Het
Svil T C 18: 5,094,582 (GRCm39) S1421P probably damaging Het
Tcea3 G A 4: 135,998,677 (GRCm39) C317Y probably damaging Het
Tmco6 T C 18: 36,870,757 (GRCm39) L117S probably damaging Het
Trp53bp1 T C 2: 121,100,718 (GRCm39) K89E probably damaging Het
Trp63 T A 16: 25,583,052 (GRCm39) probably benign Het
Ube2d2a A G 18: 35,933,185 (GRCm39) Y74C probably damaging Het
Usp19 T G 9: 108,375,708 (GRCm39) F885V probably damaging Het
Utp18 T A 11: 93,773,003 (GRCm39) probably benign Het
Vmn2r116 T C 17: 23,620,387 (GRCm39) I707T possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Zfp318 C T 17: 46,723,540 (GRCm39) P1848S probably benign Het
Zfp984 G T 4: 147,839,722 (GRCm39) N376K probably benign Het
Other mutations in Ryr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Ryr3 APN 2 112,490,494 (GRCm39) missense probably damaging 0.98
IGL00531:Ryr3 APN 2 112,493,357 (GRCm39) splice site probably benign
IGL00785:Ryr3 APN 2 112,666,448 (GRCm39) missense possibly damaging 0.95
IGL00901:Ryr3 APN 2 112,716,934 (GRCm39) missense probably damaging 1.00
IGL00910:Ryr3 APN 2 112,559,279 (GRCm39) splice site probably benign
IGL00970:Ryr3 APN 2 112,595,021 (GRCm39) missense probably damaging 1.00
IGL01083:Ryr3 APN 2 112,582,191 (GRCm39) splice site probably benign
IGL01105:Ryr3 APN 2 112,582,150 (GRCm39) missense probably damaging 1.00
IGL01287:Ryr3 APN 2 112,539,418 (GRCm39) missense probably damaging 1.00
IGL01343:Ryr3 APN 2 112,490,399 (GRCm39) missense probably damaging 1.00
IGL01472:Ryr3 APN 2 112,502,593 (GRCm39) missense probably benign 0.20
IGL01552:Ryr3 APN 2 112,656,228 (GRCm39) missense possibly damaging 0.53
IGL01594:Ryr3 APN 2 112,603,073 (GRCm39) missense probably damaging 1.00
IGL01723:Ryr3 APN 2 112,480,456 (GRCm39) critical splice donor site probably null
IGL01837:Ryr3 APN 2 112,631,665 (GRCm39) missense probably damaging 1.00
IGL01868:Ryr3 APN 2 112,633,503 (GRCm39) splice site probably benign
IGL01907:Ryr3 APN 2 112,699,346 (GRCm39) splice site probably benign
IGL02005:Ryr3 APN 2 112,493,608 (GRCm39) splice site probably benign
IGL02014:Ryr3 APN 2 112,777,260 (GRCm39) missense possibly damaging 0.86
IGL02109:Ryr3 APN 2 112,779,502 (GRCm39) missense probably benign
IGL02178:Ryr3 APN 2 112,656,144 (GRCm39) missense probably benign 0.17
IGL02185:Ryr3 APN 2 112,797,548 (GRCm39) missense probably damaging 0.99
IGL02189:Ryr3 APN 2 112,585,183 (GRCm39) splice site probably benign
IGL02200:Ryr3 APN 2 112,679,855 (GRCm39) missense probably damaging 0.98
IGL02302:Ryr3 APN 2 112,794,701 (GRCm39) missense probably damaging 1.00
IGL02305:Ryr3 APN 2 112,475,622 (GRCm39) missense probably damaging 0.96
IGL02306:Ryr3 APN 2 112,664,459 (GRCm39) missense probably damaging 0.98
IGL02306:Ryr3 APN 2 112,677,744 (GRCm39) critical splice donor site probably null
IGL02340:Ryr3 APN 2 112,777,349 (GRCm39) splice site probably benign
IGL02398:Ryr3 APN 2 112,677,767 (GRCm39) missense probably benign 0.05
IGL02407:Ryr3 APN 2 112,585,303 (GRCm39) missense probably damaging 1.00
IGL02426:Ryr3 APN 2 112,731,250 (GRCm39) missense possibly damaging 0.59
IGL02452:Ryr3 APN 2 112,664,335 (GRCm39) missense probably damaging 1.00
IGL02453:Ryr3 APN 2 112,512,073 (GRCm39) splice site probably benign
IGL02585:Ryr3 APN 2 112,542,648 (GRCm39) missense probably damaging 1.00
IGL02724:Ryr3 APN 2 112,732,921 (GRCm39) critical splice donor site probably null
IGL02817:Ryr3 APN 2 112,674,968 (GRCm39) critical splice donor site probably null
IGL02861:Ryr3 APN 2 112,483,186 (GRCm39) missense possibly damaging 0.89
IGL03038:Ryr3 APN 2 112,498,465 (GRCm39) missense possibly damaging 0.83
IGL03059:Ryr3 APN 2 112,630,392 (GRCm39) missense probably damaging 1.00
IGL03136:Ryr3 APN 2 112,506,319 (GRCm39) splice site probably benign
IGL03137:Ryr3 APN 2 112,740,742 (GRCm39) missense probably benign
IGL03166:Ryr3 APN 2 112,471,457 (GRCm39) nonsense probably null
IGL03177:Ryr3 APN 2 112,859,016 (GRCm39) missense probably benign 0.39
IGL03205:Ryr3 APN 2 112,462,487 (GRCm39) missense probably damaging 1.00
IGL03224:Ryr3 APN 2 112,784,681 (GRCm39) nonsense probably null
IGL03249:Ryr3 APN 2 112,471,001 (GRCm39) missense probably benign 0.32
IGL03370:Ryr3 APN 2 112,586,944 (GRCm39) missense possibly damaging 0.69
intruder UTSW 2 112,502,591 (GRCm39) nonsense probably null
usurper UTSW 2 112,630,367 (GRCm39) missense probably damaging 1.00
ANU74:Ryr3 UTSW 2 112,661,575 (GRCm39) critical splice acceptor site probably null
BB006:Ryr3 UTSW 2 112,664,533 (GRCm39) missense probably benign 0.00
BB016:Ryr3 UTSW 2 112,664,533 (GRCm39) missense probably benign 0.00
F5426:Ryr3 UTSW 2 112,596,683 (GRCm39) splice site probably benign
PIT4494001:Ryr3 UTSW 2 112,672,221 (GRCm39) missense probably damaging 0.99
R0022:Ryr3 UTSW 2 112,471,011 (GRCm39) missense probably damaging 1.00
R0022:Ryr3 UTSW 2 112,471,011 (GRCm39) missense probably damaging 1.00
R0051:Ryr3 UTSW 2 112,699,420 (GRCm39) missense probably damaging 1.00
R0051:Ryr3 UTSW 2 112,699,420 (GRCm39) missense probably damaging 1.00
R0085:Ryr3 UTSW 2 112,690,108 (GRCm39) missense probably damaging 1.00
R0097:Ryr3 UTSW 2 112,630,400 (GRCm39) missense probably damaging 1.00
R0097:Ryr3 UTSW 2 112,630,400 (GRCm39) missense probably damaging 1.00
R0098:Ryr3 UTSW 2 112,731,376 (GRCm39) missense probably damaging 1.00
R0098:Ryr3 UTSW 2 112,731,376 (GRCm39) missense probably damaging 1.00
R0116:Ryr3 UTSW 2 112,633,510 (GRCm39) missense probably damaging 0.99
R0302:Ryr3 UTSW 2 112,477,468 (GRCm39) splice site probably benign
R0306:Ryr3 UTSW 2 112,606,000 (GRCm39) critical splice donor site probably null
R0445:Ryr3 UTSW 2 112,696,399 (GRCm39) missense probably benign 0.16
R0463:Ryr3 UTSW 2 112,492,046 (GRCm39) missense probably damaging 1.00
R0592:Ryr3 UTSW 2 112,508,826 (GRCm39) missense probably damaging 1.00
R0622:Ryr3 UTSW 2 112,492,900 (GRCm39) missense probably damaging 1.00
R0656:Ryr3 UTSW 2 112,478,651 (GRCm39) splice site probably benign
R0735:Ryr3 UTSW 2 112,563,327 (GRCm39) missense probably benign 0.11
R0783:Ryr3 UTSW 2 112,586,672 (GRCm39) splice site probably benign
R0789:Ryr3 UTSW 2 112,611,318 (GRCm39) splice site probably null
R0835:Ryr3 UTSW 2 112,480,483 (GRCm39) missense probably benign 0.16
R0879:Ryr3 UTSW 2 112,860,588 (GRCm39) missense probably benign 0.02
R0924:Ryr3 UTSW 2 112,672,178 (GRCm39) missense probably damaging 1.00
R0930:Ryr3 UTSW 2 112,672,178 (GRCm39) missense probably damaging 1.00
R0931:Ryr3 UTSW 2 112,484,047 (GRCm39) missense probably damaging 1.00
R1037:Ryr3 UTSW 2 112,699,453 (GRCm39) missense probably benign 0.42
R1169:Ryr3 UTSW 2 112,563,359 (GRCm39) missense probably benign 0.01
R1170:Ryr3 UTSW 2 112,777,332 (GRCm39) missense probably damaging 1.00
R1178:Ryr3 UTSW 2 112,794,725 (GRCm39) missense probably benign 0.00
R1187:Ryr3 UTSW 2 112,788,521 (GRCm39) missense probably damaging 1.00
R1289:Ryr3 UTSW 2 112,475,630 (GRCm39) missense probably damaging 1.00
R1337:Ryr3 UTSW 2 112,610,308 (GRCm39) missense possibly damaging 0.46
R1342:Ryr3 UTSW 2 112,581,148 (GRCm39) missense probably damaging 1.00
R1349:Ryr3 UTSW 2 112,664,546 (GRCm39) missense probably damaging 1.00
R1372:Ryr3 UTSW 2 112,664,546 (GRCm39) missense probably damaging 1.00
R1434:Ryr3 UTSW 2 112,475,604 (GRCm39) missense probably damaging 1.00
R1438:Ryr3 UTSW 2 112,588,046 (GRCm39) missense probably benign 0.18
R1467:Ryr3 UTSW 2 112,583,347 (GRCm39) splice site probably benign
R1470:Ryr3 UTSW 2 112,483,352 (GRCm39) missense probably benign
R1470:Ryr3 UTSW 2 112,483,352 (GRCm39) missense probably benign
R1474:Ryr3 UTSW 2 112,740,307 (GRCm39) missense probably damaging 1.00
R1481:Ryr3 UTSW 2 112,466,867 (GRCm39) splice site probably benign
R1513:Ryr3 UTSW 2 112,539,542 (GRCm39) nonsense probably null
R1524:Ryr3 UTSW 2 112,699,427 (GRCm39) missense probably damaging 0.98
R1525:Ryr3 UTSW 2 112,508,435 (GRCm39) missense probably damaging 1.00
R1526:Ryr3 UTSW 2 112,492,002 (GRCm39) missense probably damaging 1.00
R1611:Ryr3 UTSW 2 112,483,850 (GRCm39) missense possibly damaging 0.72
R1640:Ryr3 UTSW 2 112,731,178 (GRCm39) missense probably damaging 1.00
R1662:Ryr3 UTSW 2 112,539,618 (GRCm39) missense probably damaging 0.99
R1764:Ryr3 UTSW 2 112,690,805 (GRCm39) missense probably damaging 1.00
R1769:Ryr3 UTSW 2 112,582,113 (GRCm39) critical splice donor site probably null
R1776:Ryr3 UTSW 2 112,787,598 (GRCm39) missense probably damaging 0.99
R1780:Ryr3 UTSW 2 112,697,637 (GRCm39) missense probably damaging 0.98
R1840:Ryr3 UTSW 2 112,581,165 (GRCm39) missense probably damaging 1.00
R1864:Ryr3 UTSW 2 112,560,673 (GRCm39) missense possibly damaging 0.65
R1872:Ryr3 UTSW 2 112,539,482 (GRCm39) missense possibly damaging 0.94
R1960:Ryr3 UTSW 2 112,624,812 (GRCm39) missense probably damaging 1.00
R1994:Ryr3 UTSW 2 112,484,837 (GRCm39) missense probably null 0.93
R2018:Ryr3 UTSW 2 112,611,410 (GRCm39) missense probably benign 0.24
R2019:Ryr3 UTSW 2 112,611,410 (GRCm39) missense probably benign 0.24
R2029:Ryr3 UTSW 2 112,477,361 (GRCm39) missense possibly damaging 0.82
R2051:Ryr3 UTSW 2 112,586,986 (GRCm39) missense probably damaging 1.00
R2060:Ryr3 UTSW 2 112,784,709 (GRCm39) missense possibly damaging 0.92
R2061:Ryr3 UTSW 2 112,493,349 (GRCm39) missense possibly damaging 0.83
R2067:Ryr3 UTSW 2 112,777,302 (GRCm39) missense probably damaging 1.00
R2106:Ryr3 UTSW 2 112,468,474 (GRCm39) missense probably damaging 1.00
R2129:Ryr3 UTSW 2 112,508,715 (GRCm39) splice site probably benign
R2140:Ryr3 UTSW 2 112,705,493 (GRCm39) missense probably benign 0.01
R2176:Ryr3 UTSW 2 112,496,680 (GRCm39) missense possibly damaging 0.48
R2241:Ryr3 UTSW 2 112,631,737 (GRCm39) missense probably damaging 1.00
R2261:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R2262:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R2276:Ryr3 UTSW 2 112,479,664 (GRCm39) missense possibly damaging 0.79
R2279:Ryr3 UTSW 2 112,479,664 (GRCm39) missense possibly damaging 0.79
R2403:Ryr3 UTSW 2 112,516,973 (GRCm39) missense probably damaging 1.00
R2510:Ryr3 UTSW 2 112,506,249 (GRCm39) missense probably benign 0.18
R2568:Ryr3 UTSW 2 112,506,219 (GRCm39) missense probably damaging 1.00
R3013:Ryr3 UTSW 2 112,470,626 (GRCm39) missense probably damaging 1.00
R3431:Ryr3 UTSW 2 112,486,876 (GRCm39) missense probably damaging 1.00
R3552:Ryr3 UTSW 2 112,582,132 (GRCm39) missense probably damaging 1.00
R3761:Ryr3 UTSW 2 112,585,258 (GRCm39) missense probably benign
R3909:Ryr3 UTSW 2 112,466,953 (GRCm39) missense probably damaging 1.00
R3923:Ryr3 UTSW 2 112,672,218 (GRCm39) missense possibly damaging 0.92
R3924:Ryr3 UTSW 2 112,859,048 (GRCm39) splice site probably benign
R3927:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R3947:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R3949:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R3976:Ryr3 UTSW 2 112,506,182 (GRCm39) missense possibly damaging 0.49
R4004:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R4022:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R4084:Ryr3 UTSW 2 112,731,253 (GRCm39) missense probably damaging 0.99
R4106:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R4108:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R4109:Ryr3 UTSW 2 112,506,218 (GRCm39) missense probably damaging 0.99
R4131:Ryr3 UTSW 2 112,757,328 (GRCm39) splice site probably null
R4156:Ryr3 UTSW 2 112,484,020 (GRCm39) missense probably damaging 1.00
R4172:Ryr3 UTSW 2 112,624,815 (GRCm39) missense probably damaging 1.00
R4234:Ryr3 UTSW 2 112,740,752 (GRCm39) missense probably damaging 1.00
R4399:Ryr3 UTSW 2 112,777,189 (GRCm39) missense probably benign 0.01
R4409:Ryr3 UTSW 2 112,560,653 (GRCm39) missense probably damaging 1.00
R4418:Ryr3 UTSW 2 112,661,569 (GRCm39) missense probably damaging 1.00
R4466:Ryr3 UTSW 2 112,483,447 (GRCm39) missense possibly damaging 0.92
R4525:Ryr3 UTSW 2 112,483,966 (GRCm39) missense probably damaging 0.98
R4573:Ryr3 UTSW 2 112,585,519 (GRCm39) splice site probably null
R4589:Ryr3 UTSW 2 112,705,478 (GRCm39) missense probably damaging 1.00
R4653:Ryr3 UTSW 2 112,483,108 (GRCm39) missense probably damaging 1.00
R4664:Ryr3 UTSW 2 112,826,900 (GRCm39) intron probably benign
R4710:Ryr3 UTSW 2 112,596,646 (GRCm39) missense probably damaging 1.00
R4734:Ryr3 UTSW 2 112,740,847 (GRCm39) missense probably damaging 0.99
R4741:Ryr3 UTSW 2 112,633,613 (GRCm39) missense probably damaging 0.99
R4748:Ryr3 UTSW 2 112,794,750 (GRCm39) missense possibly damaging 0.95
R4749:Ryr3 UTSW 2 112,794,750 (GRCm39) missense possibly damaging 0.95
R4754:Ryr3 UTSW 2 112,587,984 (GRCm39) missense possibly damaging 0.94
R4764:Ryr3 UTSW 2 112,563,376 (GRCm39) critical splice acceptor site probably null
R4812:Ryr3 UTSW 2 112,742,581 (GRCm39) missense probably damaging 1.00
R4822:Ryr3 UTSW 2 112,483,090 (GRCm39) missense probably damaging 1.00
R4841:Ryr3 UTSW 2 112,478,718 (GRCm39) missense probably damaging 1.00
R4849:Ryr3 UTSW 2 112,738,807 (GRCm39) missense probably damaging 1.00
R4917:Ryr3 UTSW 2 112,661,530 (GRCm39) missense probably damaging 1.00
R4942:Ryr3 UTSW 2 112,666,602 (GRCm39) missense probably damaging 0.99
R4990:Ryr3 UTSW 2 112,740,318 (GRCm39) missense probably damaging 1.00
R4990:Ryr3 UTSW 2 112,466,122 (GRCm39) missense probably damaging 1.00
R5049:Ryr3 UTSW 2 112,470,516 (GRCm39) missense probably damaging 1.00
R5055:Ryr3 UTSW 2 112,661,504 (GRCm39) missense probably benign 0.00
R5112:Ryr3 UTSW 2 112,733,010 (GRCm39) missense probably damaging 1.00
R5160:Ryr3 UTSW 2 112,477,272 (GRCm39) missense probably damaging 1.00
R5169:Ryr3 UTSW 2 112,501,005 (GRCm39) missense possibly damaging 0.63
R5176:Ryr3 UTSW 2 112,588,012 (GRCm39) missense possibly damaging 0.95
R5182:Ryr3 UTSW 2 112,585,495 (GRCm39) missense probably damaging 1.00
R5206:Ryr3 UTSW 2 112,675,056 (GRCm39) missense probably damaging 1.00
R5263:Ryr3 UTSW 2 112,548,347 (GRCm39) missense possibly damaging 0.65
R5272:Ryr3 UTSW 2 112,483,558 (GRCm39) missense probably damaging 1.00
R5332:Ryr3 UTSW 2 112,733,038 (GRCm39) missense probably damaging 1.00
R5340:Ryr3 UTSW 2 112,664,470 (GRCm39) missense probably damaging 0.99
R5359:Ryr3 UTSW 2 112,606,186 (GRCm39) splice site probably null
R5434:Ryr3 UTSW 2 112,624,814 (GRCm39) missense probably damaging 1.00
R5454:Ryr3 UTSW 2 112,560,647 (GRCm39) splice site probably null
R5501:Ryr3 UTSW 2 112,492,849 (GRCm39) missense possibly damaging 0.80
R5560:Ryr3 UTSW 2 112,585,222 (GRCm39) missense probably damaging 1.00
R5580:Ryr3 UTSW 2 112,672,293 (GRCm39) missense probably damaging 1.00
R5621:Ryr3 UTSW 2 112,731,329 (GRCm39) nonsense probably null
R5731:Ryr3 UTSW 2 112,471,917 (GRCm39) missense probably damaging 1.00
R5757:Ryr3 UTSW 2 112,672,320 (GRCm39) missense probably damaging 1.00
R5758:Ryr3 UTSW 2 112,672,320 (GRCm39) missense probably damaging 1.00
R5768:Ryr3 UTSW 2 112,583,442 (GRCm39) missense probably benign 0.05
R5783:Ryr3 UTSW 2 112,483,343 (GRCm39) missense probably benign 0.06
R5799:Ryr3 UTSW 2 112,516,925 (GRCm39) missense probably damaging 1.00
R5829:Ryr3 UTSW 2 112,690,076 (GRCm39) missense probably damaging 1.00
R5883:Ryr3 UTSW 2 112,860,637 (GRCm39) intron probably benign
R5911:Ryr3 UTSW 2 112,738,832 (GRCm39) missense probably damaging 1.00
R5968:Ryr3 UTSW 2 112,477,394 (GRCm39) missense probably benign 0.22
R5972:Ryr3 UTSW 2 112,664,409 (GRCm39) missense probably damaging 0.99
R5978:Ryr3 UTSW 2 112,502,614 (GRCm39) missense probably benign 0.00
R6084:Ryr3 UTSW 2 112,738,838 (GRCm39) missense probably damaging 1.00
R6117:Ryr3 UTSW 2 112,465,741 (GRCm39) missense probably damaging 1.00
R6126:Ryr3 UTSW 2 112,588,015 (GRCm39) missense probably damaging 1.00
R6128:Ryr3 UTSW 2 112,784,639 (GRCm39) critical splice donor site probably null
R6157:Ryr3 UTSW 2 112,672,244 (GRCm39) missense probably damaging 0.98
R6258:Ryr3 UTSW 2 112,490,449 (GRCm39) missense probably damaging 1.00
R6260:Ryr3 UTSW 2 112,490,449 (GRCm39) missense probably damaging 1.00
R6373:Ryr3 UTSW 2 112,486,889 (GRCm39) missense probably damaging 1.00
R6377:Ryr3 UTSW 2 112,462,530 (GRCm39) missense probably damaging 1.00
R6443:Ryr3 UTSW 2 112,506,278 (GRCm39) missense possibly damaging 0.88
R6478:Ryr3 UTSW 2 112,490,413 (GRCm39) missense probably damaging 1.00
R6512:Ryr3 UTSW 2 112,697,723 (GRCm39) missense possibly damaging 0.83
R6684:Ryr3 UTSW 2 112,583,433 (GRCm39) missense probably damaging 1.00
R6753:Ryr3 UTSW 2 112,482,955 (GRCm39) missense probably damaging 0.99
R6812:Ryr3 UTSW 2 112,777,251 (GRCm39) missense probably damaging 1.00
R6910:Ryr3 UTSW 2 112,788,520 (GRCm39) missense probably damaging 1.00
R6930:Ryr3 UTSW 2 112,690,699 (GRCm39) missense probably damaging 1.00
R6946:Ryr3 UTSW 2 112,661,545 (GRCm39) missense probably damaging 1.00
R6950:Ryr3 UTSW 2 112,517,170 (GRCm39) missense possibly damaging 0.78
R6973:Ryr3 UTSW 2 112,596,656 (GRCm39) missense probably damaging 0.99
R6984:Ryr3 UTSW 2 112,705,436 (GRCm39) missense probably damaging 1.00
R7020:Ryr3 UTSW 2 112,583,423 (GRCm39) missense probably benign 0.00
R7037:Ryr3 UTSW 2 112,779,475 (GRCm39) nonsense probably null
R7166:Ryr3 UTSW 2 112,705,373 (GRCm39) missense probably damaging 1.00
R7172:Ryr3 UTSW 2 112,492,002 (GRCm39) missense probably damaging 1.00
R7177:Ryr3 UTSW 2 112,731,188 (GRCm39) missense probably damaging 1.00
R7188:Ryr3 UTSW 2 112,858,989 (GRCm39) missense probably damaging 1.00
R7202:Ryr3 UTSW 2 112,596,664 (GRCm39) missense probably damaging 1.00
R7228:Ryr3 UTSW 2 112,692,197 (GRCm39) missense probably damaging 1.00
R7256:Ryr3 UTSW 2 112,502,591 (GRCm39) nonsense probably null
R7293:Ryr3 UTSW 2 112,732,948 (GRCm39) missense probably benign 0.13
R7331:Ryr3 UTSW 2 112,594,010 (GRCm39) missense possibly damaging 0.80
R7380:Ryr3 UTSW 2 112,470,502 (GRCm39) missense probably damaging 1.00
R7391:Ryr3 UTSW 2 112,611,322 (GRCm39) critical splice donor site probably null
R7455:Ryr3 UTSW 2 112,559,211 (GRCm39) missense probably damaging 0.99
R7466:Ryr3 UTSW 2 112,757,302 (GRCm39) missense probably benign 0.40
R7481:Ryr3 UTSW 2 112,508,439 (GRCm39) missense possibly damaging 0.95
R7481:Ryr3 UTSW 2 112,508,438 (GRCm39) missense probably benign 0.16
R7497:Ryr3 UTSW 2 112,560,818 (GRCm39) missense probably benign 0.06
R7502:Ryr3 UTSW 2 112,542,706 (GRCm39) missense probably benign 0.00
R7505:Ryr3 UTSW 2 112,542,774 (GRCm39) missense probably damaging 0.99
R7581:Ryr3 UTSW 2 112,583,372 (GRCm39) missense probably damaging 0.99
R7606:Ryr3 UTSW 2 112,475,590 (GRCm39) nonsense probably null
R7677:Ryr3 UTSW 2 112,664,245 (GRCm39) missense probably benign
R7703:Ryr3 UTSW 2 112,690,110 (GRCm39) missense probably damaging 1.00
R7713:Ryr3 UTSW 2 112,465,691 (GRCm39) missense probably benign 0.12
R7784:Ryr3 UTSW 2 112,606,040 (GRCm39) missense probably damaging 1.00
R7831:Ryr3 UTSW 2 112,757,183 (GRCm39) missense possibly damaging 0.92
R7851:Ryr3 UTSW 2 112,508,862 (GRCm39) missense probably benign 0.05
R7873:Ryr3 UTSW 2 112,560,773 (GRCm39) missense probably benign 0.28
R7890:Ryr3 UTSW 2 112,757,257 (GRCm39) missense probably damaging 1.00
R7899:Ryr3 UTSW 2 112,477,295 (GRCm39) missense possibly damaging 0.86
R7904:Ryr3 UTSW 2 112,611,369 (GRCm39) missense probably damaging 1.00
R7929:Ryr3 UTSW 2 112,664,533 (GRCm39) missense probably benign 0.00
R7982:Ryr3 UTSW 2 112,499,594 (GRCm39) small deletion probably benign
R8018:Ryr3 UTSW 2 112,508,777 (GRCm39) missense probably damaging 1.00
R8043:Ryr3 UTSW 2 112,705,422 (GRCm39) missense probably damaging 1.00
R8043:Ryr3 UTSW 2 112,606,009 (GRCm39) missense probably damaging 1.00
R8095:Ryr3 UTSW 2 112,498,388 (GRCm39) critical splice donor site probably null
R8097:Ryr3 UTSW 2 112,500,615 (GRCm39) splice site probably null
R8181:Ryr3 UTSW 2 112,608,588 (GRCm39) missense probably damaging 0.98
R8276:Ryr3 UTSW 2 112,470,962 (GRCm39) missense probably damaging 1.00
R8329:Ryr3 UTSW 2 112,492,855 (GRCm39) missense possibly damaging 0.94
R8345:Ryr3 UTSW 2 112,483,270 (GRCm39) missense probably benign 0.01
R8361:Ryr3 UTSW 2 112,483,475 (GRCm39) missense probably damaging 0.98
R8421:Ryr3 UTSW 2 112,826,929 (GRCm39) missense probably benign 0.00
R8424:Ryr3 UTSW 2 112,672,239 (GRCm39) missense possibly damaging 0.91
R8471:Ryr3 UTSW 2 112,484,125 (GRCm39) missense probably damaging 1.00
R8505:Ryr3 UTSW 2 112,506,215 (GRCm39) missense probably damaging 0.98
R8535:Ryr3 UTSW 2 112,779,433 (GRCm39) critical splice donor site probably null
R8540:Ryr3 UTSW 2 112,630,367 (GRCm39) missense probably damaging 1.00
R8722:Ryr3 UTSW 2 112,603,116 (GRCm39) missense probably benign 0.12
R8818:Ryr3 UTSW 2 112,661,441 (GRCm39) missense probably damaging 1.00
R8819:Ryr3 UTSW 2 112,690,069 (GRCm39) missense probably benign 0.01
R8819:Ryr3 UTSW 2 112,466,137 (GRCm39) missense probably damaging 1.00
R8820:Ryr3 UTSW 2 112,690,069 (GRCm39) missense probably benign 0.01
R8820:Ryr3 UTSW 2 112,466,137 (GRCm39) missense probably damaging 1.00
R8852:Ryr3 UTSW 2 112,624,844 (GRCm39) missense probably damaging 1.00
R8859:Ryr3 UTSW 2 112,483,564 (GRCm39) missense probably damaging 0.98
R8896:Ryr3 UTSW 2 112,583,395 (GRCm39) nonsense probably null
R8916:Ryr3 UTSW 2 112,608,635 (GRCm39) missense probably damaging 1.00
R8935:Ryr3 UTSW 2 112,508,402 (GRCm39) missense probably benign 0.33
R8943:Ryr3 UTSW 2 112,465,669 (GRCm39) missense probably damaging 1.00
R8963:Ryr3 UTSW 2 112,667,015 (GRCm39) critical splice donor site probably null
R8974:Ryr3 UTSW 2 112,742,624 (GRCm39) missense possibly damaging 0.74
R9008:Ryr3 UTSW 2 112,465,748 (GRCm39) missense probably damaging 0.98
R9040:Ryr3 UTSW 2 112,784,731 (GRCm39) missense probably damaging 1.00
R9041:Ryr3 UTSW 2 112,787,546 (GRCm39) missense probably damaging 0.97
R9102:Ryr3 UTSW 2 112,508,906 (GRCm39) splice site probably benign
R9167:Ryr3 UTSW 2 112,664,398 (GRCm39) missense probably damaging 1.00
R9180:Ryr3 UTSW 2 112,491,981 (GRCm39) missense probably damaging 0.99
R9219:Ryr3 UTSW 2 112,742,584 (GRCm39) missense possibly damaging 0.62
R9258:Ryr3 UTSW 2 112,483,364 (GRCm39) missense probably damaging 0.99
R9300:Ryr3 UTSW 2 112,690,695 (GRCm39) missense probably benign
R9320:Ryr3 UTSW 2 112,610,336 (GRCm39) missense probably damaging 1.00
R9325:Ryr3 UTSW 2 112,479,640 (GRCm39) missense probably damaging 0.96
R9405:Ryr3 UTSW 2 112,664,612 (GRCm39) missense probably damaging 1.00
R9414:Ryr3 UTSW 2 112,501,011 (GRCm39) missense possibly damaging 0.81
R9489:Ryr3 UTSW 2 112,491,966 (GRCm39) missense probably damaging 1.00
R9522:Ryr3 UTSW 2 112,560,759 (GRCm39) missense probably benign 0.34
R9526:Ryr3 UTSW 2 112,664,270 (GRCm39) missense probably benign
R9529:Ryr3 UTSW 2 112,465,660 (GRCm39) missense possibly damaging 0.70
R9605:Ryr3 UTSW 2 112,491,966 (GRCm39) missense probably damaging 1.00
R9652:Ryr3 UTSW 2 112,635,047 (GRCm39) missense possibly damaging 0.66
R9660:Ryr3 UTSW 2 112,664,074 (GRCm39) missense probably benign
R9670:Ryr3 UTSW 2 112,560,845 (GRCm39) missense probably benign 0.28
R9673:Ryr3 UTSW 2 112,486,883 (GRCm39) missense possibly damaging 0.93
R9710:Ryr3 UTSW 2 112,633,534 (GRCm39) missense probably damaging 0.99
R9741:Ryr3 UTSW 2 112,477,271 (GRCm39) missense probably benign 0.00
R9772:Ryr3 UTSW 2 112,657,048 (GRCm39) missense probably damaging 0.96
RF010:Ryr3 UTSW 2 112,606,015 (GRCm39) missense probably damaging 0.97
RF040:Ryr3 UTSW 2 112,740,869 (GRCm39) critical splice acceptor site probably benign
RF044:Ryr3 UTSW 2 112,740,869 (GRCm39) critical splice acceptor site probably benign
X0057:Ryr3 UTSW 2 112,470,504 (GRCm39) missense probably damaging 1.00
X0064:Ryr3 UTSW 2 112,742,647 (GRCm39) missense probably benign 0.26
Z1088:Ryr3 UTSW 2 112,731,261 (GRCm39) missense probably damaging 1.00
Z1176:Ryr3 UTSW 2 112,559,269 (GRCm39) missense probably benign 0.01
Z1176:Ryr3 UTSW 2 112,542,719 (GRCm39) missense probably damaging 1.00
Z1176:Ryr3 UTSW 2 112,506,265 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AGGCTGAAGTCAAAGCTGAAGCATC -3'
(R):5'- TCCAATAGCAAATGCCAGGGCAGG -3'

Sequencing Primer
(F):5'- GCTGTCTCCAGTTAAAAATGCC -3'
(R):5'- ATCAACTCTCTCTGCGGTAAGG -3'
Posted On 2013-05-23