Incidental Mutation 'R4754:Ryr3'
ID 357774
Institutional Source Beutler Lab
Gene Symbol Ryr3
Ensembl Gene ENSMUSG00000057378
Gene Name ryanodine receptor 3
Synonyms calcium release channel isoform 3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.321) question?
Stock # R4754 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 112461700-113047441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112587984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 2652 (I2652M)
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 possibly damaging
Transcript: ENSMUST00000080673
AA Change: I2652M

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079503
Gene: ENSMUSG00000057378
AA Change: I2652M

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 benign
Transcript: ENSMUST00000091818
AA Change: I2672M

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000089426
Gene: ENSMUSG00000057378
AA Change: I2672M

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 possibly damaging
Transcript: ENSMUST00000134358
AA Change: I2652M

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208151
AA Change: I2652M

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208290
AA Change: I2652M

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.0671 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (107/109)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,856,837 (GRCm39) Y63C probably damaging Het
Abcb4 C A 5: 8,960,717 (GRCm39) F266L probably damaging Het
Adam8 A T 7: 139,564,693 (GRCm39) I681N possibly damaging Het
Adgrf3 T A 5: 30,402,615 (GRCm39) probably null Het
Ang2 A G 14: 51,432,974 (GRCm39) V136A probably damaging Het
Ankar C T 1: 72,737,853 (GRCm39) G110R probably damaging Het
Ap3b1 T C 13: 94,540,468 (GRCm39) L130P probably damaging Het
Apc2 T G 10: 80,150,192 (GRCm39) W1749G probably benign Het
Asb2 T C 12: 103,290,096 (GRCm39) N565S possibly damaging Het
B3gnt7 C A 1: 86,233,279 (GRCm39) T58K probably benign Het
Bltp1 C T 3: 37,076,615 (GRCm39) Q3663* probably null Het
Brpf1 T A 6: 113,297,408 (GRCm39) N876K possibly damaging Het
Ccdc157 T C 11: 4,098,994 (GRCm39) I69V possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh20 A T 1: 104,912,410 (GRCm39) I555F probably damaging Het
Cfap73 T C 5: 120,767,729 (GRCm39) D274G probably damaging Het
Chd5 T A 4: 152,462,203 (GRCm39) I1310N probably damaging Het
Ckap2 T A 8: 22,658,911 (GRCm39) I611F possibly damaging Het
Cpeb2 A G 5: 43,443,200 (GRCm39) I964V possibly damaging Het
Ctbp2 C A 7: 132,625,287 (GRCm39) probably null Het
Dhrs2 A T 14: 55,476,205 (GRCm39) I142F probably damaging Het
Dnah5 T A 15: 28,421,101 (GRCm39) probably null Het
Dst T C 1: 34,251,390 (GRCm39) S1822P probably damaging Het
Ect2 T C 3: 27,181,112 (GRCm39) K581E probably damaging Het
Edem1 C T 6: 108,818,658 (GRCm39) T222M probably damaging Het
Eif2ak1 A G 5: 143,838,621 (GRCm39) M592V probably damaging Het
Endou T G 15: 97,624,420 (GRCm39) D49A probably damaging Het
Ensa A G 3: 95,529,865 (GRCm39) probably benign Het
Evc2 G T 5: 37,544,375 (GRCm39) R708L probably damaging Het
Fam120b T A 17: 15,643,224 (GRCm39) C668S probably damaging Het
Fam135a A T 1: 24,067,835 (GRCm39) C798* probably null Het
Fam135b T C 15: 71,334,800 (GRCm39) D798G probably benign Het
Fshb A C 2: 106,887,627 (GRCm39) *131E probably null Het
G3bp2 C T 5: 92,202,768 (GRCm39) V441M possibly damaging Het
Galnt6 A T 15: 100,597,105 (GRCm39) F354I probably damaging Het
Gm1123 C A 9: 98,905,293 (GRCm39) probably null Het
Gm1123 A T 9: 98,905,294 (GRCm39) probably null Het
Gm15130 T C 2: 110,973,207 (GRCm39) N115S unknown Het
Gm7104 A G 12: 88,252,765 (GRCm39) noncoding transcript Het
Gm9762 A T 3: 78,873,728 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,756,173 (GRCm39) T505A probably damaging Het
Grip2 A G 6: 91,756,163 (GRCm39) V508A probably damaging Het
Haus4 A G 14: 54,787,349 (GRCm39) probably null Het
Herc1 T A 9: 66,408,488 (GRCm39) D4571E probably benign Het
Hnrnpk T A 13: 58,546,950 (GRCm39) probably benign Het
Ica1l T C 1: 60,067,321 (GRCm39) Y23C probably damaging Het
Kansl2-ps A G 7: 72,322,881 (GRCm39) noncoding transcript Het
Kcnma1 T C 14: 23,413,904 (GRCm39) D833G probably damaging Het
Kmt2e A T 5: 23,687,439 (GRCm39) I430F possibly damaging Het
Lama2 C A 10: 26,994,527 (GRCm39) R1794L possibly damaging Het
Mcpt1 T A 14: 56,256,137 (GRCm39) F59I probably damaging Het
Mib2 G T 4: 155,739,822 (GRCm39) T783K possibly damaging Het
Nlrp4g T C 9: 124,349,788 (GRCm38) noncoding transcript Het
Nudt16l2 A T 9: 105,021,592 (GRCm39) F151L probably benign Het
Obscn T C 11: 58,926,869 (GRCm39) I6352V possibly damaging Het
Or2j6 C T 7: 139,980,072 (GRCm39) A296T probably damaging Het
Or4a72 A T 2: 89,405,391 (GRCm39) H226Q probably benign Het
Or4k1 T A 14: 50,377,490 (GRCm39) N202I possibly damaging Het
Or4k1 T G 14: 50,377,491 (GRCm39) N202H probably benign Het
Or52a5 T C 7: 103,426,875 (GRCm39) I226V probably benign Het
Or5b125-ps1 T A 19: 13,056,225 (GRCm39) noncoding transcript Het
Pcdh10 G A 3: 45,335,072 (GRCm39) R462H probably damaging Het
Pcdhga12 C A 18: 37,899,604 (GRCm39) N145K probably damaging Het
Pik3r6 T A 11: 68,435,601 (GRCm39) L613Q probably damaging Het
Pknox2 T C 9: 36,821,016 (GRCm39) D282G probably damaging Het
Plod2 T G 9: 92,488,584 (GRCm39) Y624* probably null Het
Prkd3 C A 17: 79,264,043 (GRCm39) V684F probably damaging Het
Ptpn1 T A 2: 167,816,080 (GRCm39) V198D probably damaging Het
Ptpn12 G T 5: 21,203,587 (GRCm39) P397Q probably benign Het
Rad1 C A 15: 10,493,212 (GRCm39) probably benign Het
Rasl11a A G 5: 146,783,825 (GRCm39) D90G probably benign Het
Rnf181 A G 6: 72,337,543 (GRCm39) probably benign Het
Siglecg C T 7: 43,061,295 (GRCm39) probably benign Het
Slc22a3 T C 17: 12,726,082 (GRCm39) S44G probably benign Het
Slc38a1 A T 15: 96,474,663 (GRCm39) F463I probably damaging Het
Smg1 A T 7: 117,755,954 (GRCm39) probably benign Het
Syk T C 13: 52,766,295 (GRCm39) probably benign Het
Tasor A T 14: 27,183,052 (GRCm39) I504L probably benign Het
Tbc1d5 T C 17: 51,107,193 (GRCm39) I454M probably benign Het
Tmed6 C A 8: 107,790,362 (GRCm39) D146Y probably damaging Het
Tmem132e A T 11: 82,335,677 (GRCm39) K828* probably null Het
Tmprss15 A T 16: 78,851,012 (GRCm39) S294T probably damaging Het
Trp53bp1 A G 2: 121,038,360 (GRCm39) S1493P probably damaging Het
Tshb A T 3: 102,685,491 (GRCm39) I46N probably damaging Het
Tspan11 T C 6: 127,915,183 (GRCm39) V99A probably benign Het
Ttn T C 2: 76,545,905 (GRCm39) T24176A probably benign Het
Vmn1r8 T C 6: 57,012,952 (GRCm39) M1T probably null Het
Vmn2r104 A T 17: 20,261,030 (GRCm39) Y464* probably null Het
Vmn2r110 T C 17: 20,816,458 (GRCm39) T22A probably benign Het
Vmn2r17 T A 5: 109,600,715 (GRCm39) I671K probably damaging Het
Zbtb21 T C 16: 97,752,466 (GRCm39) N606D probably damaging Het
Zfy2 A T Y: 2,121,477 (GRCm39) S139T probably benign Het
Zkscan17 G A 11: 59,393,851 (GRCm39) R156* probably null Het
Zp2 A G 7: 119,737,541 (GRCm39) V248A 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
R0281:Ryr3 UTSW 2 112,517,155 (GRCm39) missense probably damaging 1.00
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
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'- TGGGCTTCTTTCACCCATGG -3'
(R):5'- ATCAGTTAGACACTTGCTAAGGG -3'

Sequencing Primer
(F):5'- CATGGTTTCTCAGAGCCGAAG -3'
(R):5'- CAGTTAGACACTTGCTAAGGGACTAC -3'
Posted On 2015-11-11