Incidental Mutation 'R7466:Ryr3'
ID 578749
Institutional Source Beutler Lab
Gene Symbol Ryr3
Ensembl Gene ENSMUSG00000057378
Gene Name ryanodine receptor 3
Synonyms calcium release channel isoform 3
MMRRC Submission 045540-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.368) question?
Stock # R7466 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 112631355-113217096 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112926957 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 351 (D351G)
Ref Sequence ENSEMBL: ENSMUSP00000089426 (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: D331G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079503
Gene: ENSMUSG00000057378
AA Change: D331G

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: D351G

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000089426
Gene: ENSMUSG00000057378
AA Change: D351G

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: D331G

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208151
AA Change: D331G

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000208290
AA Change: D331G

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 T A 2: 35,088,741 (GRCm38) K203* probably null Het
Akr1c13 T C 13: 4,192,437 (GRCm38) probably benign Het
Amer3 A G 1: 34,587,993 (GRCm38) S438G probably damaging Het
Aqp9 T A 9: 71,163,261 (GRCm38) probably null Het
Art4 G T 6: 136,854,850 (GRCm38) H98N probably damaging Het
Bdh1 T C 16: 31,447,604 (GRCm38) S70P probably benign Het
Ccdc61 A C 7: 18,891,105 (GRCm38) Y503D probably damaging Het
Cd163l1 T C 7: 140,220,706 (GRCm38) probably null Het
Cd180 A T 13: 102,704,995 (GRCm38) N183I probably damaging Het
Cd200r2 C T 16: 44,909,174 (GRCm38) A64V probably damaging Het
Ceacam9 A C 7: 16,723,855 (GRCm38) K98Q probably benign Het
Cep44 AACGC A 8: 56,540,983 (GRCm38) probably null Het
Cfap77 G T 2: 28,955,613 (GRCm38) D247E probably benign Het
Cftr T C 6: 18,227,973 (GRCm38) M388T probably benign Het
Chrnb1 G A 11: 69,784,650 (GRCm38) H493Y probably damaging Het
Ckap2 A C 8: 22,177,386 (GRCm38) M153R probably benign Het
Cnot6l A G 5: 96,131,128 (GRCm38) V77A probably benign Het
Col12a1 C T 9: 79,655,407 (GRCm38) E1798K possibly damaging Het
Cth T A 3: 157,924,885 (GRCm38) D49V probably benign Het
Ctnnb1 T C 9: 120,955,416 (GRCm38) S425P probably damaging Het
Ctnnd1 T C 2: 84,610,785 (GRCm38) N690S probably benign Het
Cyhr1 C T 15: 76,648,186 (GRCm38) D241N probably benign Het
Dennd4c A G 4: 86,774,331 (GRCm38) D26G probably damaging Het
Dlg5 G A 14: 24,245,212 (GRCm38) P80L probably damaging Het
Eef2k A G 7: 120,903,484 (GRCm38) probably null Het
Ephb2 C T 4: 136,659,065 (GRCm38) R791H probably damaging Het
Erh T C 12: 80,640,983 (GRCm38) Y22C probably benign Het
F5 C T 1: 164,193,328 (GRCm38) T1124I possibly damaging Het
Fam220a T A 5: 143,563,471 (GRCm38) C213S possibly damaging Het
Fat2 G T 11: 55,310,432 (GRCm38) N605K probably damaging Het
Ganab C A 19: 8,914,569 (GRCm38) S780* probably null Het
Gbgt1 C T 2: 28,502,207 (GRCm38) P67S probably damaging Het
Gm17190 G T 13: 96,082,779 (GRCm38) G208* probably null Het
Grhl2 A G 15: 37,291,616 (GRCm38) Y316C probably damaging Het
H2-T10 T C 17: 36,120,849 (GRCm38) T38A probably benign Het
Ins1 A G 19: 52,264,420 (GRCm38) probably benign Het
Ippk T C 13: 49,432,467 (GRCm38) probably null Het
Klc4 T A 17: 46,639,910 (GRCm38) I258F probably benign Het
Manba C A 3: 135,542,393 (GRCm38) L348I probably benign Het
Mgam A G 6: 40,744,789 (GRCm38) N347S probably benign Het
Myo18b T C 5: 112,723,892 (GRCm38) T2108A probably benign Het
Naip5 A T 13: 100,221,986 (GRCm38) L914* probably null Het
Nsa2 C T 13: 97,131,220 (GRCm38) A242T probably benign Het
Nsd2 G A 5: 33,882,147 (GRCm38) W834* probably null Het
Olfr1134 T C 2: 87,656,396 (GRCm38) N175S possibly damaging Het
Olfr1419 T A 19: 11,870,316 (GRCm38) D300V possibly damaging Het
Olfr285 T C 15: 98,313,380 (GRCm38) M57V probably damaging Het
Olfr469 A T 7: 107,822,922 (GRCm38) C182* probably null Het
Pam A T 1: 97,842,247 (GRCm38) D599E probably damaging Het
Phf20l1 A G 15: 66,636,884 (GRCm38) K864R probably damaging Het
Plcl2 A G 17: 50,608,468 (GRCm38) D835G probably damaging Het
Ppm1m C A 9: 106,196,157 (GRCm38) A329S probably damaging Het
Prep T C 10: 45,150,438 (GRCm38) V486A probably benign Het
Prkcb A T 7: 122,516,844 (GRCm38) N182I probably damaging Het
Prkcz A G 4: 155,271,602 (GRCm38) F355S probably damaging Het
Psg20 C T 7: 18,684,467 (GRCm38) S125N probably benign Het
Psmd12 A G 11: 107,492,057 (GRCm38) D234G probably benign Het
Pvrig A T 5: 138,342,008 (GRCm38) M14L probably benign Het
Rabgap1l C T 1: 160,226,484 (GRCm38) probably null Het
Rfc1 A T 5: 65,275,426 (GRCm38) C764S probably damaging Het
Serpinb9g T C 13: 33,495,167 (GRCm38) F340S probably benign Het
Sirpb1c C A 3: 15,832,266 (GRCm38) L315F probably damaging Het
Slc24a1 C G 9: 64,928,404 (GRCm38) E814Q unknown Het
Slc26a11 A T 11: 119,374,502 (GRCm38) Q355L probably damaging Het
Sp100 C T 1: 85,707,239 (GRCm38) L483F possibly damaging Het
St5 A G 7: 109,525,346 (GRCm38) L1096P probably damaging Het
Ston1 T A 17: 88,635,901 (GRCm38) M245K probably benign Het
Swap70 T A 7: 110,274,772 (GRCm38) D442E probably benign Het
Syne2 T A 12: 76,046,186 (GRCm38) V450D possibly damaging Het
Tbck T A 3: 132,752,563 (GRCm38) N651K probably damaging Het
Timd4 A T 11: 46,817,758 (GRCm38) T204S probably benign Het
Tmem102 A G 11: 69,804,885 (GRCm38) L87P probably damaging Het
Tmem55a T A 4: 14,912,477 (GRCm38) Y195* probably null Het
Tmprss11e T A 5: 86,709,480 (GRCm38) T325S probably benign Het
Trpm1 G A 7: 64,240,582 (GRCm38) V978M probably damaging Het
Wdr12 A T 1: 60,094,511 (GRCm38) D19E probably benign Het
Wdr35 G A 12: 9,005,773 (GRCm38) V482I probably benign Het
Wdr63 T C 3: 146,055,618 (GRCm38) D661G probably benign Het
Zer1 T C 2: 30,101,484 (GRCm38) probably null Het
Zfp503 T C 14: 21,986,011 (GRCm38) D279G probably benign Het
Zfp870 A T 17: 32,883,762 (GRCm38) C198S possibly damaging Het
Zfyve26 C T 12: 79,287,807 (GRCm38) E146K probably benign Het
Zkscan6 T C 11: 65,828,531 (GRCm38) V459A probably damaging Het
Other mutations in Ryr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Ryr3 APN 2 112,660,149 (GRCm38) missense probably damaging 0.98
IGL00531:Ryr3 APN 2 112,663,012 (GRCm38) splice site probably benign
IGL00785:Ryr3 APN 2 112,836,103 (GRCm38) missense possibly damaging 0.95
IGL00901:Ryr3 APN 2 112,886,589 (GRCm38) missense probably damaging 1.00
IGL00910:Ryr3 APN 2 112,728,934 (GRCm38) splice site probably benign
IGL00970:Ryr3 APN 2 112,764,676 (GRCm38) missense probably damaging 1.00
IGL01083:Ryr3 APN 2 112,751,846 (GRCm38) splice site probably benign
IGL01105:Ryr3 APN 2 112,751,805 (GRCm38) missense probably damaging 1.00
IGL01287:Ryr3 APN 2 112,709,073 (GRCm38) missense probably damaging 1.00
IGL01343:Ryr3 APN 2 112,660,054 (GRCm38) missense probably damaging 1.00
IGL01472:Ryr3 APN 2 112,672,248 (GRCm38) missense probably benign 0.20
IGL01552:Ryr3 APN 2 112,825,883 (GRCm38) missense possibly damaging 0.53
IGL01594:Ryr3 APN 2 112,772,728 (GRCm38) missense probably damaging 1.00
IGL01723:Ryr3 APN 2 112,650,111 (GRCm38) critical splice donor site probably null
IGL01837:Ryr3 APN 2 112,801,320 (GRCm38) missense probably damaging 1.00
IGL01868:Ryr3 APN 2 112,803,158 (GRCm38) splice site probably benign
IGL01907:Ryr3 APN 2 112,869,001 (GRCm38) splice site probably benign
IGL02005:Ryr3 APN 2 112,663,263 (GRCm38) splice site probably benign
IGL02014:Ryr3 APN 2 112,946,915 (GRCm38) missense possibly damaging 0.86
IGL02109:Ryr3 APN 2 112,949,157 (GRCm38) missense probably benign
IGL02178:Ryr3 APN 2 112,825,799 (GRCm38) missense probably benign 0.17
IGL02185:Ryr3 APN 2 112,967,203 (GRCm38) missense probably damaging 0.99
IGL02189:Ryr3 APN 2 112,754,838 (GRCm38) splice site probably benign
IGL02200:Ryr3 APN 2 112,849,510 (GRCm38) missense probably damaging 0.98
IGL02302:Ryr3 APN 2 112,964,356 (GRCm38) missense probably damaging 1.00
IGL02305:Ryr3 APN 2 112,645,277 (GRCm38) missense probably damaging 0.96
IGL02306:Ryr3 APN 2 112,834,114 (GRCm38) missense probably damaging 0.98
IGL02306:Ryr3 APN 2 112,847,399 (GRCm38) critical splice donor site probably null
IGL02340:Ryr3 APN 2 112,947,004 (GRCm38) splice site probably benign
IGL02398:Ryr3 APN 2 112,847,422 (GRCm38) missense probably benign 0.05
IGL02407:Ryr3 APN 2 112,754,958 (GRCm38) missense probably damaging 1.00
IGL02426:Ryr3 APN 2 112,900,905 (GRCm38) missense possibly damaging 0.59
IGL02452:Ryr3 APN 2 112,833,990 (GRCm38) missense probably damaging 1.00
IGL02453:Ryr3 APN 2 112,681,728 (GRCm38) splice site probably benign
IGL02585:Ryr3 APN 2 112,712,303 (GRCm38) missense probably damaging 1.00
IGL02724:Ryr3 APN 2 112,902,576 (GRCm38) critical splice donor site probably null
IGL02817:Ryr3 APN 2 112,844,623 (GRCm38) critical splice donor site probably null
IGL02861:Ryr3 APN 2 112,652,841 (GRCm38) missense possibly damaging 0.89
IGL03038:Ryr3 APN 2 112,668,120 (GRCm38) missense possibly damaging 0.83
IGL03059:Ryr3 APN 2 112,800,047 (GRCm38) missense probably damaging 1.00
IGL03136:Ryr3 APN 2 112,675,974 (GRCm38) splice site probably benign
IGL03137:Ryr3 APN 2 112,910,397 (GRCm38) missense probably benign
IGL03166:Ryr3 APN 2 112,641,112 (GRCm38) nonsense probably null
IGL03177:Ryr3 APN 2 113,028,671 (GRCm38) missense probably benign 0.39
IGL03205:Ryr3 APN 2 112,632,142 (GRCm38) missense probably damaging 1.00
IGL03224:Ryr3 APN 2 112,954,336 (GRCm38) nonsense probably null
IGL03249:Ryr3 APN 2 112,640,656 (GRCm38) missense probably benign 0.32
IGL03370:Ryr3 APN 2 112,756,599 (GRCm38) missense possibly damaging 0.69
intruder UTSW 2 112,672,246 (GRCm38) nonsense probably null
usurper UTSW 2 112,800,022 (GRCm38) missense probably damaging 1.00
ANU74:Ryr3 UTSW 2 112,831,230 (GRCm38) critical splice acceptor site probably null
BB006:Ryr3 UTSW 2 112,834,188 (GRCm38) missense probably benign 0.00
BB016:Ryr3 UTSW 2 112,834,188 (GRCm38) missense probably benign 0.00
F5426:Ryr3 UTSW 2 112,766,338 (GRCm38) splice site probably benign
PIT4494001:Ryr3 UTSW 2 112,841,876 (GRCm38) missense probably damaging 0.99
R0022:Ryr3 UTSW 2 112,640,666 (GRCm38) missense probably damaging 1.00
R0022:Ryr3 UTSW 2 112,640,666 (GRCm38) missense probably damaging 1.00
R0051:Ryr3 UTSW 2 112,869,075 (GRCm38) missense probably damaging 1.00
R0051:Ryr3 UTSW 2 112,869,075 (GRCm38) missense probably damaging 1.00
R0085:Ryr3 UTSW 2 112,859,763 (GRCm38) missense probably damaging 1.00
R0097:Ryr3 UTSW 2 112,800,055 (GRCm38) missense probably damaging 1.00
R0097:Ryr3 UTSW 2 112,800,055 (GRCm38) missense probably damaging 1.00
R0098:Ryr3 UTSW 2 112,901,031 (GRCm38) missense probably damaging 1.00
R0098:Ryr3 UTSW 2 112,901,031 (GRCm38) missense probably damaging 1.00
R0116:Ryr3 UTSW 2 112,803,165 (GRCm38) missense probably damaging 0.99
R0281:Ryr3 UTSW 2 112,686,810 (GRCm38) missense probably damaging 1.00
R0302:Ryr3 UTSW 2 112,647,123 (GRCm38) splice site probably benign
R0306:Ryr3 UTSW 2 112,775,655 (GRCm38) critical splice donor site probably null
R0445:Ryr3 UTSW 2 112,866,054 (GRCm38) missense probably benign 0.16
R0463:Ryr3 UTSW 2 112,661,701 (GRCm38) missense probably damaging 1.00
R0592:Ryr3 UTSW 2 112,678,481 (GRCm38) missense probably damaging 1.00
R0622:Ryr3 UTSW 2 112,662,555 (GRCm38) missense probably damaging 1.00
R0656:Ryr3 UTSW 2 112,648,306 (GRCm38) splice site probably benign
R0735:Ryr3 UTSW 2 112,732,982 (GRCm38) missense probably benign 0.11
R0783:Ryr3 UTSW 2 112,756,327 (GRCm38) splice site probably benign
R0789:Ryr3 UTSW 2 112,780,973 (GRCm38) splice site probably null
R0835:Ryr3 UTSW 2 112,650,138 (GRCm38) missense probably benign 0.16
R0879:Ryr3 UTSW 2 113,030,243 (GRCm38) missense probably benign 0.02
R0924:Ryr3 UTSW 2 112,841,833 (GRCm38) missense probably damaging 1.00
R0930:Ryr3 UTSW 2 112,841,833 (GRCm38) missense probably damaging 1.00
R0931:Ryr3 UTSW 2 112,653,702 (GRCm38) missense probably damaging 1.00
R1037:Ryr3 UTSW 2 112,869,108 (GRCm38) missense probably benign 0.42
R1169:Ryr3 UTSW 2 112,733,014 (GRCm38) missense probably benign 0.01
R1170:Ryr3 UTSW 2 112,946,987 (GRCm38) missense probably damaging 1.00
R1178:Ryr3 UTSW 2 112,964,380 (GRCm38) missense probably benign 0.00
R1187:Ryr3 UTSW 2 112,958,176 (GRCm38) missense probably damaging 1.00
R1289:Ryr3 UTSW 2 112,645,285 (GRCm38) missense probably damaging 1.00
R1337:Ryr3 UTSW 2 112,779,963 (GRCm38) missense possibly damaging 0.46
R1342:Ryr3 UTSW 2 112,750,803 (GRCm38) missense probably damaging 1.00
R1349:Ryr3 UTSW 2 112,834,201 (GRCm38) missense probably damaging 1.00
R1372:Ryr3 UTSW 2 112,834,201 (GRCm38) missense probably damaging 1.00
R1434:Ryr3 UTSW 2 112,645,259 (GRCm38) missense probably damaging 1.00
R1438:Ryr3 UTSW 2 112,757,701 (GRCm38) missense probably benign 0.18
R1467:Ryr3 UTSW 2 112,753,002 (GRCm38) splice site probably benign
R1470:Ryr3 UTSW 2 112,653,007 (GRCm38) missense probably benign
R1470:Ryr3 UTSW 2 112,653,007 (GRCm38) missense probably benign
R1474:Ryr3 UTSW 2 112,909,962 (GRCm38) missense probably damaging 1.00
R1481:Ryr3 UTSW 2 112,636,522 (GRCm38) splice site probably benign
R1513:Ryr3 UTSW 2 112,709,197 (GRCm38) nonsense probably null
R1524:Ryr3 UTSW 2 112,869,082 (GRCm38) missense probably damaging 0.98
R1525:Ryr3 UTSW 2 112,678,090 (GRCm38) missense probably damaging 1.00
R1526:Ryr3 UTSW 2 112,661,657 (GRCm38) missense probably damaging 1.00
R1611:Ryr3 UTSW 2 112,653,505 (GRCm38) missense possibly damaging 0.72
R1640:Ryr3 UTSW 2 112,900,833 (GRCm38) missense probably damaging 1.00
R1662:Ryr3 UTSW 2 112,709,273 (GRCm38) missense probably damaging 0.99
R1764:Ryr3 UTSW 2 112,860,460 (GRCm38) missense probably damaging 1.00
R1769:Ryr3 UTSW 2 112,751,768 (GRCm38) critical splice donor site probably null
R1776:Ryr3 UTSW 2 112,957,253 (GRCm38) missense probably damaging 0.99
R1780:Ryr3 UTSW 2 112,867,292 (GRCm38) missense probably damaging 0.98
R1840:Ryr3 UTSW 2 112,750,820 (GRCm38) missense probably damaging 1.00
R1864:Ryr3 UTSW 2 112,730,328 (GRCm38) missense possibly damaging 0.65
R1872:Ryr3 UTSW 2 112,709,137 (GRCm38) missense possibly damaging 0.94
R1960:Ryr3 UTSW 2 112,794,467 (GRCm38) missense probably damaging 1.00
R1994:Ryr3 UTSW 2 112,654,492 (GRCm38) missense probably null 0.93
R2018:Ryr3 UTSW 2 112,781,065 (GRCm38) missense probably benign 0.24
R2019:Ryr3 UTSW 2 112,781,065 (GRCm38) missense probably benign 0.24
R2029:Ryr3 UTSW 2 112,647,016 (GRCm38) missense possibly damaging 0.82
R2051:Ryr3 UTSW 2 112,756,641 (GRCm38) missense probably damaging 1.00
R2060:Ryr3 UTSW 2 112,954,364 (GRCm38) missense possibly damaging 0.92
R2061:Ryr3 UTSW 2 112,663,004 (GRCm38) missense possibly damaging 0.83
R2067:Ryr3 UTSW 2 112,946,957 (GRCm38) missense probably damaging 1.00
R2106:Ryr3 UTSW 2 112,638,129 (GRCm38) missense probably damaging 1.00
R2129:Ryr3 UTSW 2 112,678,370 (GRCm38) splice site probably benign
R2140:Ryr3 UTSW 2 112,875,148 (GRCm38) missense probably benign 0.01
R2176:Ryr3 UTSW 2 112,666,335 (GRCm38) missense possibly damaging 0.48
R2241:Ryr3 UTSW 2 112,801,392 (GRCm38) missense probably damaging 1.00
R2261:Ryr3 UTSW 2 112,675,873 (GRCm38) missense probably damaging 0.99
R2262:Ryr3 UTSW 2 112,675,873 (GRCm38) missense probably damaging 0.99
R2276:Ryr3 UTSW 2 112,649,319 (GRCm38) missense possibly damaging 0.79
R2279:Ryr3 UTSW 2 112,649,319 (GRCm38) missense possibly damaging 0.79
R2403:Ryr3 UTSW 2 112,686,628 (GRCm38) missense probably damaging 1.00
R2510:Ryr3 UTSW 2 112,675,904 (GRCm38) missense probably benign 0.18
R2568:Ryr3 UTSW 2 112,675,874 (GRCm38) missense probably damaging 1.00
R3013:Ryr3 UTSW 2 112,640,281 (GRCm38) missense probably damaging 1.00
R3431:Ryr3 UTSW 2 112,656,531 (GRCm38) missense probably damaging 1.00
R3552:Ryr3 UTSW 2 112,751,787 (GRCm38) missense probably damaging 1.00
R3761:Ryr3 UTSW 2 112,754,913 (GRCm38) missense probably benign
R3909:Ryr3 UTSW 2 112,636,608 (GRCm38) missense probably damaging 1.00
R3923:Ryr3 UTSW 2 112,841,873 (GRCm38) missense possibly damaging 0.92
R3924:Ryr3 UTSW 2 113,028,703 (GRCm38) splice site probably benign
R3927:Ryr3 UTSW 2 112,675,873 (GRCm38) missense probably damaging 0.99
R3947:Ryr3 UTSW 2 112,675,873 (GRCm38) missense probably damaging 0.99
R3949:Ryr3 UTSW 2 112,675,873 (GRCm38) missense probably damaging 0.99
R3976:Ryr3 UTSW 2 112,675,837 (GRCm38) missense possibly damaging 0.49
R4004:Ryr3 UTSW 2 112,675,873 (GRCm38) missense probably damaging 0.99
R4022:Ryr3 UTSW 2 112,675,873 (GRCm38) missense probably damaging 0.99
R4084:Ryr3 UTSW 2 112,900,908 (GRCm38) missense probably damaging 0.99
R4106:Ryr3 UTSW 2 112,675,873 (GRCm38) missense probably damaging 0.99
R4108:Ryr3 UTSW 2 112,675,873 (GRCm38) missense probably damaging 0.99
R4109:Ryr3 UTSW 2 112,675,873 (GRCm38) missense probably damaging 0.99
R4131:Ryr3 UTSW 2 112,926,983 (GRCm38) splice site probably null
R4156:Ryr3 UTSW 2 112,653,675 (GRCm38) missense probably damaging 1.00
R4172:Ryr3 UTSW 2 112,794,470 (GRCm38) missense probably damaging 1.00
R4234:Ryr3 UTSW 2 112,910,407 (GRCm38) missense probably damaging 1.00
R4399:Ryr3 UTSW 2 112,946,844 (GRCm38) missense probably benign 0.01
R4409:Ryr3 UTSW 2 112,730,308 (GRCm38) missense probably damaging 1.00
R4418:Ryr3 UTSW 2 112,831,224 (GRCm38) missense probably damaging 1.00
R4466:Ryr3 UTSW 2 112,653,102 (GRCm38) missense possibly damaging 0.92
R4525:Ryr3 UTSW 2 112,653,621 (GRCm38) missense probably damaging 0.98
R4573:Ryr3 UTSW 2 112,755,174 (GRCm38) splice site probably null
R4589:Ryr3 UTSW 2 112,875,133 (GRCm38) missense probably damaging 1.00
R4653:Ryr3 UTSW 2 112,652,763 (GRCm38) missense probably damaging 1.00
R4664:Ryr3 UTSW 2 112,996,555 (GRCm38) intron probably benign
R4710:Ryr3 UTSW 2 112,766,301 (GRCm38) missense probably damaging 1.00
R4734:Ryr3 UTSW 2 112,910,502 (GRCm38) missense probably damaging 0.99
R4741:Ryr3 UTSW 2 112,803,268 (GRCm38) missense probably damaging 0.99
R4748:Ryr3 UTSW 2 112,964,405 (GRCm38) missense possibly damaging 0.95
R4749:Ryr3 UTSW 2 112,964,405 (GRCm38) missense possibly damaging 0.95
R4754:Ryr3 UTSW 2 112,757,639 (GRCm38) missense possibly damaging 0.94
R4764:Ryr3 UTSW 2 112,733,031 (GRCm38) critical splice acceptor site probably null
R4812:Ryr3 UTSW 2 112,912,236 (GRCm38) missense probably damaging 1.00
R4822:Ryr3 UTSW 2 112,652,745 (GRCm38) missense probably damaging 1.00
R4841:Ryr3 UTSW 2 112,648,373 (GRCm38) missense probably damaging 1.00
R4849:Ryr3 UTSW 2 112,908,462 (GRCm38) missense probably damaging 1.00
R4917:Ryr3 UTSW 2 112,831,185 (GRCm38) missense probably damaging 1.00
R4942:Ryr3 UTSW 2 112,836,257 (GRCm38) missense probably damaging 0.99
R4990:Ryr3 UTSW 2 112,909,973 (GRCm38) missense probably damaging 1.00
R4990:Ryr3 UTSW 2 112,635,777 (GRCm38) missense probably damaging 1.00
R5049:Ryr3 UTSW 2 112,640,171 (GRCm38) missense probably damaging 1.00
R5055:Ryr3 UTSW 2 112,831,159 (GRCm38) missense probably benign 0.00
R5112:Ryr3 UTSW 2 112,902,665 (GRCm38) missense probably damaging 1.00
R5160:Ryr3 UTSW 2 112,646,927 (GRCm38) missense probably damaging 1.00
R5169:Ryr3 UTSW 2 112,670,660 (GRCm38) missense possibly damaging 0.63
R5176:Ryr3 UTSW 2 112,757,667 (GRCm38) missense possibly damaging 0.95
R5182:Ryr3 UTSW 2 112,755,150 (GRCm38) missense probably damaging 1.00
R5206:Ryr3 UTSW 2 112,844,711 (GRCm38) missense probably damaging 1.00
R5263:Ryr3 UTSW 2 112,718,002 (GRCm38) missense possibly damaging 0.65
R5272:Ryr3 UTSW 2 112,653,213 (GRCm38) missense probably damaging 1.00
R5332:Ryr3 UTSW 2 112,902,693 (GRCm38) missense probably damaging 1.00
R5340:Ryr3 UTSW 2 112,834,125 (GRCm38) missense probably damaging 0.99
R5359:Ryr3 UTSW 2 112,775,841 (GRCm38) splice site probably null
R5434:Ryr3 UTSW 2 112,794,469 (GRCm38) missense probably damaging 1.00
R5454:Ryr3 UTSW 2 112,730,302 (GRCm38) splice site probably null
R5501:Ryr3 UTSW 2 112,662,504 (GRCm38) missense possibly damaging 0.80
R5560:Ryr3 UTSW 2 112,754,877 (GRCm38) missense probably damaging 1.00
R5580:Ryr3 UTSW 2 112,841,948 (GRCm38) missense probably damaging 1.00
R5621:Ryr3 UTSW 2 112,900,984 (GRCm38) nonsense probably null
R5731:Ryr3 UTSW 2 112,641,572 (GRCm38) missense probably damaging 1.00
R5757:Ryr3 UTSW 2 112,841,975 (GRCm38) missense probably damaging 1.00
R5758:Ryr3 UTSW 2 112,841,975 (GRCm38) missense probably damaging 1.00
R5768:Ryr3 UTSW 2 112,753,097 (GRCm38) missense probably benign 0.05
R5783:Ryr3 UTSW 2 112,652,998 (GRCm38) missense probably benign 0.06
R5799:Ryr3 UTSW 2 112,686,580 (GRCm38) missense probably damaging 1.00
R5829:Ryr3 UTSW 2 112,859,731 (GRCm38) missense probably damaging 1.00
R5883:Ryr3 UTSW 2 113,030,292 (GRCm38) intron probably benign
R5911:Ryr3 UTSW 2 112,908,487 (GRCm38) missense probably damaging 1.00
R5968:Ryr3 UTSW 2 112,647,049 (GRCm38) missense probably benign 0.22
R5972:Ryr3 UTSW 2 112,834,064 (GRCm38) missense probably damaging 0.99
R5978:Ryr3 UTSW 2 112,672,269 (GRCm38) missense probably benign 0.00
R6084:Ryr3 UTSW 2 112,908,493 (GRCm38) missense probably damaging 1.00
R6117:Ryr3 UTSW 2 112,635,396 (GRCm38) missense probably damaging 1.00
R6126:Ryr3 UTSW 2 112,757,670 (GRCm38) missense probably damaging 1.00
R6128:Ryr3 UTSW 2 112,954,294 (GRCm38) critical splice donor site probably null
R6157:Ryr3 UTSW 2 112,841,899 (GRCm38) missense probably damaging 0.98
R6258:Ryr3 UTSW 2 112,660,104 (GRCm38) missense probably damaging 1.00
R6260:Ryr3 UTSW 2 112,660,104 (GRCm38) missense probably damaging 1.00
R6373:Ryr3 UTSW 2 112,656,544 (GRCm38) missense probably damaging 1.00
R6377:Ryr3 UTSW 2 112,632,185 (GRCm38) missense probably damaging 1.00
R6443:Ryr3 UTSW 2 112,675,933 (GRCm38) missense possibly damaging 0.88
R6478:Ryr3 UTSW 2 112,660,068 (GRCm38) missense probably damaging 1.00
R6512:Ryr3 UTSW 2 112,867,378 (GRCm38) missense possibly damaging 0.83
R6684:Ryr3 UTSW 2 112,753,088 (GRCm38) missense probably damaging 1.00
R6753:Ryr3 UTSW 2 112,652,610 (GRCm38) missense probably damaging 0.99
R6812:Ryr3 UTSW 2 112,946,906 (GRCm38) missense probably damaging 1.00
R6910:Ryr3 UTSW 2 112,958,175 (GRCm38) missense probably damaging 1.00
R6930:Ryr3 UTSW 2 112,860,354 (GRCm38) missense probably damaging 1.00
R6946:Ryr3 UTSW 2 112,831,200 (GRCm38) missense probably damaging 1.00
R6950:Ryr3 UTSW 2 112,686,825 (GRCm38) missense possibly damaging 0.78
R6973:Ryr3 UTSW 2 112,766,311 (GRCm38) missense probably damaging 0.99
R6984:Ryr3 UTSW 2 112,875,091 (GRCm38) missense probably damaging 1.00
R7020:Ryr3 UTSW 2 112,753,078 (GRCm38) missense probably benign 0.00
R7037:Ryr3 UTSW 2 112,949,130 (GRCm38) nonsense probably null
R7166:Ryr3 UTSW 2 112,875,028 (GRCm38) missense probably damaging 1.00
R7172:Ryr3 UTSW 2 112,661,657 (GRCm38) missense probably damaging 1.00
R7177:Ryr3 UTSW 2 112,900,843 (GRCm38) missense probably damaging 1.00
R7188:Ryr3 UTSW 2 113,028,644 (GRCm38) missense probably damaging 1.00
R7202:Ryr3 UTSW 2 112,766,319 (GRCm38) missense probably damaging 1.00
R7228:Ryr3 UTSW 2 112,861,852 (GRCm38) missense probably damaging 1.00
R7256:Ryr3 UTSW 2 112,672,246 (GRCm38) nonsense probably null
R7293:Ryr3 UTSW 2 112,902,603 (GRCm38) missense probably benign 0.13
R7331:Ryr3 UTSW 2 112,763,665 (GRCm38) missense possibly damaging 0.80
R7380:Ryr3 UTSW 2 112,640,157 (GRCm38) missense probably damaging 1.00
R7391:Ryr3 UTSW 2 112,780,977 (GRCm38) critical splice donor site probably null
R7455:Ryr3 UTSW 2 112,728,866 (GRCm38) missense probably damaging 0.99
R7481:Ryr3 UTSW 2 112,678,094 (GRCm38) missense possibly damaging 0.95
R7481:Ryr3 UTSW 2 112,678,093 (GRCm38) missense probably benign 0.16
R7497:Ryr3 UTSW 2 112,730,473 (GRCm38) missense probably benign 0.06
R7502:Ryr3 UTSW 2 112,712,361 (GRCm38) missense probably benign 0.00
R7505:Ryr3 UTSW 2 112,712,429 (GRCm38) missense probably damaging 0.99
R7581:Ryr3 UTSW 2 112,753,027 (GRCm38) missense probably damaging 0.99
R7606:Ryr3 UTSW 2 112,645,245 (GRCm38) nonsense probably null
R7677:Ryr3 UTSW 2 112,833,900 (GRCm38) missense probably benign
R7703:Ryr3 UTSW 2 112,859,765 (GRCm38) missense probably damaging 1.00
R7713:Ryr3 UTSW 2 112,635,346 (GRCm38) missense probably benign 0.12
R7784:Ryr3 UTSW 2 112,775,695 (GRCm38) missense probably damaging 1.00
R7831:Ryr3 UTSW 2 112,926,838 (GRCm38) missense possibly damaging 0.92
R7851:Ryr3 UTSW 2 112,678,517 (GRCm38) missense probably benign 0.05
R7873:Ryr3 UTSW 2 112,730,428 (GRCm38) missense probably benign 0.28
R7890:Ryr3 UTSW 2 112,926,912 (GRCm38) missense probably damaging 1.00
R7899:Ryr3 UTSW 2 112,646,950 (GRCm38) missense possibly damaging 0.86
R7904:Ryr3 UTSW 2 112,781,024 (GRCm38) missense probably damaging 1.00
R7929:Ryr3 UTSW 2 112,834,188 (GRCm38) missense probably benign 0.00
R7982:Ryr3 UTSW 2 112,669,249 (GRCm38) small deletion probably benign
R8018:Ryr3 UTSW 2 112,678,432 (GRCm38) missense probably damaging 1.00
R8043:Ryr3 UTSW 2 112,875,077 (GRCm38) missense probably damaging 1.00
R8043:Ryr3 UTSW 2 112,775,664 (GRCm38) missense probably damaging 1.00
R8095:Ryr3 UTSW 2 112,668,043 (GRCm38) critical splice donor site probably null
R8097:Ryr3 UTSW 2 112,670,270 (GRCm38) splice site probably null
R8181:Ryr3 UTSW 2 112,778,243 (GRCm38) missense probably damaging 0.98
R8276:Ryr3 UTSW 2 112,640,617 (GRCm38) missense probably damaging 1.00
R8329:Ryr3 UTSW 2 112,662,510 (GRCm38) missense possibly damaging 0.94
R8345:Ryr3 UTSW 2 112,652,925 (GRCm38) missense probably benign 0.01
R8361:Ryr3 UTSW 2 112,653,130 (GRCm38) missense probably damaging 0.98
R8421:Ryr3 UTSW 2 112,996,584 (GRCm38) missense probably benign 0.00
R8424:Ryr3 UTSW 2 112,841,894 (GRCm38) missense possibly damaging 0.91
R8471:Ryr3 UTSW 2 112,653,780 (GRCm38) missense probably damaging 1.00
R8505:Ryr3 UTSW 2 112,675,870 (GRCm38) missense probably damaging 0.98
R8535:Ryr3 UTSW 2 112,949,088 (GRCm38) critical splice donor site probably null
R8540:Ryr3 UTSW 2 112,800,022 (GRCm38) missense probably damaging 1.00
R8722:Ryr3 UTSW 2 112,772,771 (GRCm38) missense probably benign 0.12
R8818:Ryr3 UTSW 2 112,831,096 (GRCm38) missense probably damaging 1.00
R8819:Ryr3 UTSW 2 112,859,724 (GRCm38) missense probably benign 0.01
R8819:Ryr3 UTSW 2 112,635,792 (GRCm38) missense probably damaging 1.00
R8820:Ryr3 UTSW 2 112,859,724 (GRCm38) missense probably benign 0.01
R8820:Ryr3 UTSW 2 112,635,792 (GRCm38) missense probably damaging 1.00
R8852:Ryr3 UTSW 2 112,794,499 (GRCm38) missense probably damaging 1.00
R8859:Ryr3 UTSW 2 112,653,219 (GRCm38) missense probably damaging 0.98
R8896:Ryr3 UTSW 2 112,753,050 (GRCm38) nonsense probably null
R8916:Ryr3 UTSW 2 112,778,290 (GRCm38) missense probably damaging 1.00
R8935:Ryr3 UTSW 2 112,678,057 (GRCm38) missense probably benign 0.33
R8943:Ryr3 UTSW 2 112,635,324 (GRCm38) missense probably damaging 1.00
R8963:Ryr3 UTSW 2 112,836,670 (GRCm38) critical splice donor site probably null
R8974:Ryr3 UTSW 2 112,912,279 (GRCm38) missense possibly damaging 0.74
R9008:Ryr3 UTSW 2 112,635,403 (GRCm38) missense probably damaging 0.98
R9040:Ryr3 UTSW 2 112,954,386 (GRCm38) missense probably damaging 1.00
R9041:Ryr3 UTSW 2 112,957,201 (GRCm38) missense probably damaging 0.97
R9102:Ryr3 UTSW 2 112,678,561 (GRCm38) splice site probably benign
R9167:Ryr3 UTSW 2 112,834,053 (GRCm38) missense probably damaging 1.00
R9180:Ryr3 UTSW 2 112,661,636 (GRCm38) missense probably damaging 0.99
R9219:Ryr3 UTSW 2 112,912,239 (GRCm38) missense possibly damaging 0.62
R9258:Ryr3 UTSW 2 112,653,019 (GRCm38) missense probably damaging 0.99
R9300:Ryr3 UTSW 2 112,860,350 (GRCm38) missense probably benign
R9320:Ryr3 UTSW 2 112,779,991 (GRCm38) missense probably damaging 1.00
R9325:Ryr3 UTSW 2 112,649,295 (GRCm38) missense probably damaging 0.96
R9405:Ryr3 UTSW 2 112,834,267 (GRCm38) missense probably damaging 1.00
R9414:Ryr3 UTSW 2 112,670,666 (GRCm38) missense possibly damaging 0.81
R9489:Ryr3 UTSW 2 112,661,621 (GRCm38) missense probably damaging 1.00
R9522:Ryr3 UTSW 2 112,730,414 (GRCm38) missense probably benign 0.34
R9526:Ryr3 UTSW 2 112,833,925 (GRCm38) missense probably benign
R9529:Ryr3 UTSW 2 112,635,315 (GRCm38) missense possibly damaging 0.70
R9605:Ryr3 UTSW 2 112,661,621 (GRCm38) missense probably damaging 1.00
R9652:Ryr3 UTSW 2 112,804,702 (GRCm38) missense possibly damaging 0.66
R9660:Ryr3 UTSW 2 112,833,729 (GRCm38) missense probably benign
R9670:Ryr3 UTSW 2 112,730,500 (GRCm38) missense probably benign 0.28
R9673:Ryr3 UTSW 2 112,656,538 (GRCm38) missense possibly damaging 0.93
R9710:Ryr3 UTSW 2 112,803,189 (GRCm38) missense probably damaging 0.99
R9741:Ryr3 UTSW 2 112,646,926 (GRCm38) missense probably benign 0.00
R9772:Ryr3 UTSW 2 112,826,703 (GRCm38) missense probably damaging 0.96
RF010:Ryr3 UTSW 2 112,775,670 (GRCm38) missense probably damaging 0.97
RF040:Ryr3 UTSW 2 112,910,524 (GRCm38) critical splice acceptor site probably benign
RF044:Ryr3 UTSW 2 112,910,524 (GRCm38) critical splice acceptor site probably benign
X0057:Ryr3 UTSW 2 112,640,159 (GRCm38) missense probably damaging 1.00
X0064:Ryr3 UTSW 2 112,912,302 (GRCm38) missense probably benign 0.26
Z1088:Ryr3 UTSW 2 112,900,916 (GRCm38) missense probably damaging 1.00
Z1176:Ryr3 UTSW 2 112,728,924 (GRCm38) missense probably benign 0.01
Z1176:Ryr3 UTSW 2 112,712,374 (GRCm38) missense probably damaging 1.00
Z1176:Ryr3 UTSW 2 112,675,920 (GRCm38) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CCAGAGTCACTCCTGTCTAACTG -3'
(R):5'- TTCTGAAATCCTAGCTAGCTTGG -3'

Sequencing Primer
(F):5'- GTAAACCCTGTATAACCATTAGACCC -3'
(R):5'- CCTAGCTAGCTTGGAGACATG -3'
Posted On 2019-10-07