Incidental Mutation 'IGL03249:Ryr3'
ID | 414506 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ryr3
|
Ensembl Gene |
ENSMUSG00000057378 |
Gene Name | ryanodine receptor 3 |
Synonyms | calcium release channel isoform 3 |
Accession Numbers |
Genbank: NM_177652.2
|
Is this an essential gene? |
Possibly non essential (E-score: 0.416)
|
Stock # | IGL03249
|
Quality Score | |
Status |
|
Chromosome | 2 |
Chromosomal Location | 112631355-113217096 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to T
at 112640656 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 4594
(M4594K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080673]
[ENSMUST00000091818]
[ENSMUST00000134358]
[ENSMUST00000208151]
[ENSMUST00000208290]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080673
AA Change: M4599K
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000079503 Gene: ENSMUSG00000057378 AA Change: M4599K
Domain | Start | End | E-Value | Type |
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: M4624K
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000089426 Gene: ENSMUSG00000057378 AA Change: M4624K
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000134358
AA Change: M4594K
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142537
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208151
AA Change: M4570K
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208290
AA Change: M4604K
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410002F23Rik |
A |
G |
7: 44,250,725 |
Y18C |
probably damaging |
Het |
Abcc4 |
A |
G |
14: 118,627,706 |
|
probably benign |
Het |
Acnat2 |
T |
C |
4: 49,381,787 |
K202E |
probably benign |
Het |
Arid2 |
A |
T |
15: 96,401,965 |
R1786S |
probably damaging |
Het |
Atp2a1 |
C |
T |
7: 126,462,805 |
E40K |
probably benign |
Het |
Cdc23 |
A |
G |
18: 34,644,016 |
|
probably benign |
Het |
Ctnnd2 |
A |
G |
15: 30,683,236 |
D461G |
probably benign |
Het |
Galntl6 |
G |
T |
8: 57,777,176 |
|
probably benign |
Het |
Gcc2 |
T |
A |
10: 58,270,992 |
Y583* |
probably null |
Het |
Olfr740 |
T |
C |
14: 50,453,211 |
V53A |
probably damaging |
Het |
Plekhg2 |
C |
A |
7: 28,368,002 |
R281L |
probably damaging |
Het |
Rbm27 |
A |
G |
18: 42,301,747 |
D292G |
probably damaging |
Het |
Sec22a |
T |
C |
16: 35,347,763 |
Y126C |
probably damaging |
Het |
Svopl |
T |
C |
6: 38,017,053 |
T348A |
probably benign |
Het |
Svs1 |
A |
T |
6: 48,988,369 |
H437L |
probably benign |
Het |
Tecta |
T |
C |
9: 42,391,886 |
E150G |
probably benign |
Het |
Ttc8 |
T |
G |
12: 98,943,821 |
|
probably benign |
Het |
Zfp51 |
T |
A |
17: 21,463,439 |
N105K |
probably damaging |
Het |
|
Other mutations in Ryr3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00435:Ryr3
|
APN |
2 |
112660149 |
missense |
probably damaging |
0.98 |
IGL00531:Ryr3
|
APN |
2 |
112663012 |
splice site |
probably benign |
|
IGL00785:Ryr3
|
APN |
2 |
112836103 |
missense |
possibly damaging |
0.95 |
IGL00901:Ryr3
|
APN |
2 |
112886589 |
missense |
probably damaging |
1.00 |
IGL00910:Ryr3
|
APN |
2 |
112728934 |
splice site |
probably benign |
|
IGL00970:Ryr3
|
APN |
2 |
112764676 |
missense |
probably damaging |
1.00 |
IGL01083:Ryr3
|
APN |
2 |
112751846 |
splice site |
probably benign |
|
IGL01105:Ryr3
|
APN |
2 |
112751805 |
missense |
probably damaging |
1.00 |
IGL01287:Ryr3
|
APN |
2 |
112709073 |
missense |
probably damaging |
1.00 |
IGL01343:Ryr3
|
APN |
2 |
112660054 |
missense |
probably damaging |
1.00 |
IGL01472:Ryr3
|
APN |
2 |
112672248 |
missense |
probably benign |
0.20 |
IGL01552:Ryr3
|
APN |
2 |
112825883 |
missense |
possibly damaging |
0.53 |
IGL01594:Ryr3
|
APN |
2 |
112772728 |
missense |
probably damaging |
1.00 |
IGL01723:Ryr3
|
APN |
2 |
112650111 |
critical splice donor site |
probably null |
|
IGL01837:Ryr3
|
APN |
2 |
112801320 |
missense |
probably damaging |
1.00 |
IGL01868:Ryr3
|
APN |
2 |
112803158 |
splice site |
probably benign |
|
IGL01907:Ryr3
|
APN |
2 |
112869001 |
splice site |
probably benign |
|
IGL02005:Ryr3
|
APN |
2 |
112663263 |
splice site |
probably benign |
|
IGL02014:Ryr3
|
APN |
2 |
112946915 |
missense |
possibly damaging |
0.86 |
IGL02109:Ryr3
|
APN |
2 |
112949157 |
missense |
probably benign |
|
IGL02178:Ryr3
|
APN |
2 |
112825799 |
missense |
probably benign |
0.17 |
IGL02185:Ryr3
|
APN |
2 |
112967203 |
missense |
probably damaging |
0.99 |
IGL02189:Ryr3
|
APN |
2 |
112754838 |
splice site |
probably benign |
|
IGL02200:Ryr3
|
APN |
2 |
112849510 |
missense |
probably damaging |
0.98 |
IGL02302:Ryr3
|
APN |
2 |
112964356 |
missense |
probably damaging |
1.00 |
IGL02305:Ryr3
|
APN |
2 |
112645277 |
missense |
probably damaging |
0.96 |
IGL02306:Ryr3
|
APN |
2 |
112834114 |
missense |
probably damaging |
0.98 |
IGL02306:Ryr3
|
APN |
2 |
112847399 |
critical splice donor site |
probably null |
|
IGL02340:Ryr3
|
APN |
2 |
112947004 |
splice site |
probably benign |
|
IGL02398:Ryr3
|
APN |
2 |
112847422 |
missense |
probably benign |
0.05 |
IGL02407:Ryr3
|
APN |
2 |
112754958 |
missense |
probably damaging |
1.00 |
IGL02426:Ryr3
|
APN |
2 |
112900905 |
missense |
possibly damaging |
0.59 |
IGL02452:Ryr3
|
APN |
2 |
112833990 |
missense |
probably damaging |
1.00 |
IGL02453:Ryr3
|
APN |
2 |
112681728 |
splice site |
probably benign |
|
IGL02585:Ryr3
|
APN |
2 |
112712303 |
missense |
probably damaging |
1.00 |
IGL02724:Ryr3
|
APN |
2 |
112902576 |
critical splice donor site |
probably null |
|
IGL02817:Ryr3
|
APN |
2 |
112844623 |
critical splice donor site |
probably null |
|
IGL02861:Ryr3
|
APN |
2 |
112652841 |
missense |
possibly damaging |
0.89 |
IGL03038:Ryr3
|
APN |
2 |
112668120 |
missense |
possibly damaging |
0.83 |
IGL03059:Ryr3
|
APN |
2 |
112800047 |
missense |
probably damaging |
1.00 |
IGL03136:Ryr3
|
APN |
2 |
112675974 |
splice site |
probably benign |
|
IGL03137:Ryr3
|
APN |
2 |
112910397 |
missense |
probably benign |
|
IGL03166:Ryr3
|
APN |
2 |
112641112 |
nonsense |
probably null |
|
IGL03177:Ryr3
|
APN |
2 |
113028671 |
missense |
probably benign |
0.39 |
IGL03205:Ryr3
|
APN |
2 |
112632142 |
missense |
probably damaging |
1.00 |
IGL03224:Ryr3
|
APN |
2 |
112954336 |
nonsense |
probably null |
|
IGL03370:Ryr3
|
APN |
2 |
112756599 |
missense |
possibly damaging |
0.69 |
intruder
|
UTSW |
2 |
112672246 |
nonsense |
probably null |
|
usurper
|
UTSW |
2 |
112800022 |
missense |
probably damaging |
1.00 |
ANU74:Ryr3
|
UTSW |
2 |
112831230 |
critical splice acceptor site |
probably null |
|
BB006:Ryr3
|
UTSW |
2 |
112834188 |
missense |
probably benign |
0.00 |
BB016:Ryr3
|
UTSW |
2 |
112834188 |
missense |
probably benign |
0.00 |
F5426:Ryr3
|
UTSW |
2 |
112766338 |
splice site |
probably benign |
|
PIT4494001:Ryr3
|
UTSW |
2 |
112841876 |
missense |
probably damaging |
0.99 |
R0022:Ryr3
|
UTSW |
2 |
112640666 |
missense |
probably damaging |
1.00 |
R0022:Ryr3
|
UTSW |
2 |
112640666 |
missense |
probably damaging |
1.00 |
R0051:Ryr3
|
UTSW |
2 |
112869075 |
missense |
probably damaging |
1.00 |
R0051:Ryr3
|
UTSW |
2 |
112869075 |
missense |
probably damaging |
1.00 |
R0085:Ryr3
|
UTSW |
2 |
112859763 |
missense |
probably damaging |
1.00 |
R0097:Ryr3
|
UTSW |
2 |
112800055 |
missense |
probably damaging |
1.00 |
R0097:Ryr3
|
UTSW |
2 |
112800055 |
missense |
probably damaging |
1.00 |
R0098:Ryr3
|
UTSW |
2 |
112901031 |
missense |
probably damaging |
1.00 |
R0098:Ryr3
|
UTSW |
2 |
112901031 |
missense |
probably damaging |
1.00 |
R0116:Ryr3
|
UTSW |
2 |
112803165 |
missense |
probably damaging |
0.99 |
R0281:Ryr3
|
UTSW |
2 |
112686810 |
missense |
probably damaging |
1.00 |
R0302:Ryr3
|
UTSW |
2 |
112647123 |
splice site |
probably benign |
|
R0306:Ryr3
|
UTSW |
2 |
112775655 |
critical splice donor site |
probably null |
|
R0445:Ryr3
|
UTSW |
2 |
112866054 |
missense |
probably benign |
0.16 |
R0463:Ryr3
|
UTSW |
2 |
112661701 |
missense |
probably damaging |
1.00 |
R0592:Ryr3
|
UTSW |
2 |
112678481 |
missense |
probably damaging |
1.00 |
R0622:Ryr3
|
UTSW |
2 |
112662555 |
missense |
probably damaging |
1.00 |
R0656:Ryr3
|
UTSW |
2 |
112648306 |
splice site |
probably benign |
|
R0735:Ryr3
|
UTSW |
2 |
112732982 |
missense |
probably benign |
0.11 |
R0783:Ryr3
|
UTSW |
2 |
112756327 |
splice site |
probably benign |
|
R0789:Ryr3
|
UTSW |
2 |
112780973 |
splice site |
probably null |
|
R0835:Ryr3
|
UTSW |
2 |
112650138 |
missense |
probably benign |
0.16 |
R0879:Ryr3
|
UTSW |
2 |
113030243 |
missense |
probably benign |
0.02 |
R0924:Ryr3
|
UTSW |
2 |
112841833 |
missense |
probably damaging |
1.00 |
R0930:Ryr3
|
UTSW |
2 |
112841833 |
missense |
probably damaging |
1.00 |
R0931:Ryr3
|
UTSW |
2 |
112653702 |
missense |
probably damaging |
1.00 |
R1037:Ryr3
|
UTSW |
2 |
112869108 |
missense |
probably benign |
0.42 |
R1169:Ryr3
|
UTSW |
2 |
112733014 |
missense |
probably benign |
0.01 |
R1170:Ryr3
|
UTSW |
2 |
112946987 |
missense |
probably damaging |
1.00 |
R1178:Ryr3
|
UTSW |
2 |
112964380 |
missense |
probably benign |
0.00 |
R1187:Ryr3
|
UTSW |
2 |
112958176 |
missense |
probably damaging |
1.00 |
R1289:Ryr3
|
UTSW |
2 |
112645285 |
missense |
probably damaging |
1.00 |
R1337:Ryr3
|
UTSW |
2 |
112779963 |
missense |
possibly damaging |
0.46 |
R1342:Ryr3
|
UTSW |
2 |
112750803 |
missense |
probably damaging |
1.00 |
R1349:Ryr3
|
UTSW |
2 |
112834201 |
missense |
probably damaging |
1.00 |
R1372:Ryr3
|
UTSW |
2 |
112834201 |
missense |
probably damaging |
1.00 |
R1434:Ryr3
|
UTSW |
2 |
112645259 |
missense |
probably damaging |
1.00 |
R1438:Ryr3
|
UTSW |
2 |
112757701 |
missense |
probably benign |
0.18 |
R1467:Ryr3
|
UTSW |
2 |
112753002 |
splice site |
probably benign |
|
R1470:Ryr3
|
UTSW |
2 |
112653007 |
missense |
probably benign |
|
R1470:Ryr3
|
UTSW |
2 |
112653007 |
missense |
probably benign |
|
R1474:Ryr3
|
UTSW |
2 |
112909962 |
missense |
probably damaging |
1.00 |
R1481:Ryr3
|
UTSW |
2 |
112636522 |
splice site |
probably benign |
|
R1513:Ryr3
|
UTSW |
2 |
112709197 |
nonsense |
probably null |
|
R1524:Ryr3
|
UTSW |
2 |
112869082 |
missense |
probably damaging |
0.98 |
R1525:Ryr3
|
UTSW |
2 |
112678090 |
missense |
probably damaging |
1.00 |
R1526:Ryr3
|
UTSW |
2 |
112661657 |
missense |
probably damaging |
1.00 |
R1611:Ryr3
|
UTSW |
2 |
112653505 |
missense |
possibly damaging |
0.72 |
R1640:Ryr3
|
UTSW |
2 |
112900833 |
missense |
probably damaging |
1.00 |
R1662:Ryr3
|
UTSW |
2 |
112709273 |
missense |
probably damaging |
0.99 |
R1764:Ryr3
|
UTSW |
2 |
112860460 |
missense |
probably damaging |
1.00 |
R1769:Ryr3
|
UTSW |
2 |
112751768 |
critical splice donor site |
probably null |
|
R1776:Ryr3
|
UTSW |
2 |
112957253 |
missense |
probably damaging |
0.99 |
R1780:Ryr3
|
UTSW |
2 |
112867292 |
missense |
probably damaging |
0.98 |
R1840:Ryr3
|
UTSW |
2 |
112750820 |
missense |
probably damaging |
1.00 |
R1864:Ryr3
|
UTSW |
2 |
112730328 |
missense |
possibly damaging |
0.65 |
R1872:Ryr3
|
UTSW |
2 |
112709137 |
missense |
possibly damaging |
0.94 |
R1960:Ryr3
|
UTSW |
2 |
112794467 |
missense |
probably damaging |
1.00 |
R1994:Ryr3
|
UTSW |
2 |
112654492 |
missense |
probably null |
0.93 |
R2018:Ryr3
|
UTSW |
2 |
112781065 |
missense |
probably benign |
0.24 |
R2019:Ryr3
|
UTSW |
2 |
112781065 |
missense |
probably benign |
0.24 |
R2029:Ryr3
|
UTSW |
2 |
112647016 |
missense |
possibly damaging |
0.82 |
R2051:Ryr3
|
UTSW |
2 |
112756641 |
missense |
probably damaging |
1.00 |
R2060:Ryr3
|
UTSW |
2 |
112954364 |
missense |
possibly damaging |
0.92 |
R2061:Ryr3
|
UTSW |
2 |
112663004 |
missense |
possibly damaging |
0.83 |
R2067:Ryr3
|
UTSW |
2 |
112946957 |
missense |
probably damaging |
1.00 |
R2106:Ryr3
|
UTSW |
2 |
112638129 |
missense |
probably damaging |
1.00 |
R2129:Ryr3
|
UTSW |
2 |
112678370 |
splice site |
probably benign |
|
R2140:Ryr3
|
UTSW |
2 |
112875148 |
missense |
probably benign |
0.01 |
R2176:Ryr3
|
UTSW |
2 |
112666335 |
missense |
possibly damaging |
0.48 |
R2241:Ryr3
|
UTSW |
2 |
112801392 |
missense |
probably damaging |
1.00 |
R2261:Ryr3
|
UTSW |
2 |
112675873 |
missense |
probably damaging |
0.99 |
R2262:Ryr3
|
UTSW |
2 |
112675873 |
missense |
probably damaging |
0.99 |
R2276:Ryr3
|
UTSW |
2 |
112649319 |
missense |
possibly damaging |
0.79 |
R2279:Ryr3
|
UTSW |
2 |
112649319 |
missense |
possibly damaging |
0.79 |
R2403:Ryr3
|
UTSW |
2 |
112686628 |
missense |
probably damaging |
1.00 |
R2510:Ryr3
|
UTSW |
2 |
112675904 |
missense |
probably benign |
0.18 |
R2568:Ryr3
|
UTSW |
2 |
112675874 |
missense |
probably damaging |
1.00 |
R3013:Ryr3
|
UTSW |
2 |
112640281 |
missense |
probably damaging |
1.00 |
R3431:Ryr3
|
UTSW |
2 |
112656531 |
missense |
probably damaging |
1.00 |
R3552:Ryr3
|
UTSW |
2 |
112751787 |
missense |
probably damaging |
1.00 |
R3761:Ryr3
|
UTSW |
2 |
112754913 |
missense |
probably benign |
|
R3909:Ryr3
|
UTSW |
2 |
112636608 |
missense |
probably damaging |
1.00 |
R3923:Ryr3
|
UTSW |
2 |
112841873 |
missense |
possibly damaging |
0.92 |
R3924:Ryr3
|
UTSW |
2 |
113028703 |
splice site |
probably benign |
|
R3927:Ryr3
|
UTSW |
2 |
112675873 |
missense |
probably damaging |
0.99 |
R3947:Ryr3
|
UTSW |
2 |
112675873 |
missense |
probably damaging |
0.99 |
R3949:Ryr3
|
UTSW |
2 |
112675873 |
missense |
probably damaging |
0.99 |
R3976:Ryr3
|
UTSW |
2 |
112675837 |
missense |
possibly damaging |
0.49 |
R4004:Ryr3
|
UTSW |
2 |
112675873 |
missense |
probably damaging |
0.99 |
R4022:Ryr3
|
UTSW |
2 |
112675873 |
missense |
probably damaging |
0.99 |
R4084:Ryr3
|
UTSW |
2 |
112900908 |
missense |
probably damaging |
0.99 |
R4106:Ryr3
|
UTSW |
2 |
112675873 |
missense |
probably damaging |
0.99 |
R4108:Ryr3
|
UTSW |
2 |
112675873 |
missense |
probably damaging |
0.99 |
R4109:Ryr3
|
UTSW |
2 |
112675873 |
missense |
probably damaging |
0.99 |
R4131:Ryr3
|
UTSW |
2 |
112926983 |
splice site |
probably null |
|
R4156:Ryr3
|
UTSW |
2 |
112653675 |
missense |
probably damaging |
1.00 |
R4172:Ryr3
|
UTSW |
2 |
112794470 |
missense |
probably damaging |
1.00 |
R4234:Ryr3
|
UTSW |
2 |
112910407 |
missense |
probably damaging |
1.00 |
R4399:Ryr3
|
UTSW |
2 |
112946844 |
missense |
probably benign |
0.01 |
R4409:Ryr3
|
UTSW |
2 |
112730308 |
missense |
probably damaging |
1.00 |
R4418:Ryr3
|
UTSW |
2 |
112831224 |
missense |
probably damaging |
1.00 |
R4466:Ryr3
|
UTSW |
2 |
112653102 |
missense |
possibly damaging |
0.92 |
R4525:Ryr3
|
UTSW |
2 |
112653621 |
missense |
probably damaging |
0.98 |
R4573:Ryr3
|
UTSW |
2 |
112755174 |
splice site |
probably null |
|
R4589:Ryr3
|
UTSW |
2 |
112875133 |
missense |
probably damaging |
1.00 |
R4653:Ryr3
|
UTSW |
2 |
112652763 |
missense |
probably damaging |
1.00 |
R4664:Ryr3
|
UTSW |
2 |
112996555 |
intron |
probably benign |
|
R4710:Ryr3
|
UTSW |
2 |
112766301 |
missense |
probably damaging |
1.00 |
R4734:Ryr3
|
UTSW |
2 |
112910502 |
missense |
probably damaging |
0.99 |
R4741:Ryr3
|
UTSW |
2 |
112803268 |
missense |
probably damaging |
0.99 |
R4748:Ryr3
|
UTSW |
2 |
112964405 |
missense |
possibly damaging |
0.95 |
R4749:Ryr3
|
UTSW |
2 |
112964405 |
missense |
possibly damaging |
0.95 |
R4754:Ryr3
|
UTSW |
2 |
112757639 |
missense |
possibly damaging |
0.94 |
R4764:Ryr3
|
UTSW |
2 |
112733031 |
critical splice acceptor site |
probably null |
|
R4812:Ryr3
|
UTSW |
2 |
112912236 |
missense |
probably damaging |
1.00 |
R4822:Ryr3
|
UTSW |
2 |
112652745 |
missense |
probably damaging |
1.00 |
R4841:Ryr3
|
UTSW |
2 |
112648373 |
missense |
probably damaging |
1.00 |
R4849:Ryr3
|
UTSW |
2 |
112908462 |
missense |
probably damaging |
1.00 |
R4917:Ryr3
|
UTSW |
2 |
112831185 |
missense |
probably damaging |
1.00 |
R4942:Ryr3
|
UTSW |
2 |
112836257 |
missense |
probably damaging |
0.99 |
R4990:Ryr3
|
UTSW |
2 |
112635777 |
missense |
probably damaging |
1.00 |
R4990:Ryr3
|
UTSW |
2 |
112909973 |
missense |
probably damaging |
1.00 |
R5049:Ryr3
|
UTSW |
2 |
112640171 |
missense |
probably damaging |
1.00 |
R5055:Ryr3
|
UTSW |
2 |
112831159 |
missense |
probably benign |
0.00 |
R5112:Ryr3
|
UTSW |
2 |
112902665 |
missense |
probably damaging |
1.00 |
R5160:Ryr3
|
UTSW |
2 |
112646927 |
missense |
probably damaging |
1.00 |
R5169:Ryr3
|
UTSW |
2 |
112670660 |
missense |
possibly damaging |
0.63 |
R5176:Ryr3
|
UTSW |
2 |
112757667 |
missense |
possibly damaging |
0.95 |
R5182:Ryr3
|
UTSW |
2 |
112755150 |
missense |
probably damaging |
1.00 |
R5206:Ryr3
|
UTSW |
2 |
112844711 |
missense |
probably damaging |
1.00 |
R5263:Ryr3
|
UTSW |
2 |
112718002 |
missense |
possibly damaging |
0.65 |
R5272:Ryr3
|
UTSW |
2 |
112653213 |
missense |
probably damaging |
1.00 |
R5332:Ryr3
|
UTSW |
2 |
112902693 |
missense |
probably damaging |
1.00 |
R5340:Ryr3
|
UTSW |
2 |
112834125 |
missense |
probably damaging |
0.99 |
R5359:Ryr3
|
UTSW |
2 |
112775841 |
splice site |
probably null |
|
R5434:Ryr3
|
UTSW |
2 |
112794469 |
missense |
probably damaging |
1.00 |
R5454:Ryr3
|
UTSW |
2 |
112730302 |
splice site |
probably null |
|
R5501:Ryr3
|
UTSW |
2 |
112662504 |
missense |
possibly damaging |
0.80 |
R5560:Ryr3
|
UTSW |
2 |
112754877 |
missense |
probably damaging |
1.00 |
R5580:Ryr3
|
UTSW |
2 |
112841948 |
missense |
probably damaging |
1.00 |
R5621:Ryr3
|
UTSW |
2 |
112900984 |
nonsense |
probably null |
|
R5731:Ryr3
|
UTSW |
2 |
112641572 |
missense |
probably damaging |
1.00 |
R5757:Ryr3
|
UTSW |
2 |
112841975 |
missense |
probably damaging |
1.00 |
R5758:Ryr3
|
UTSW |
2 |
112841975 |
missense |
probably damaging |
1.00 |
R5768:Ryr3
|
UTSW |
2 |
112753097 |
missense |
probably benign |
0.05 |
R5783:Ryr3
|
UTSW |
2 |
112652998 |
missense |
probably benign |
0.06 |
R5799:Ryr3
|
UTSW |
2 |
112686580 |
missense |
probably damaging |
1.00 |
R5829:Ryr3
|
UTSW |
2 |
112859731 |
missense |
probably damaging |
1.00 |
R5883:Ryr3
|
UTSW |
2 |
113030292 |
intron |
probably benign |
|
R5911:Ryr3
|
UTSW |
2 |
112908487 |
missense |
probably damaging |
1.00 |
R5968:Ryr3
|
UTSW |
2 |
112647049 |
missense |
probably benign |
0.22 |
R5972:Ryr3
|
UTSW |
2 |
112834064 |
missense |
probably damaging |
0.99 |
R5978:Ryr3
|
UTSW |
2 |
112672269 |
missense |
probably benign |
0.00 |
R6084:Ryr3
|
UTSW |
2 |
112908493 |
missense |
probably damaging |
1.00 |
R6117:Ryr3
|
UTSW |
2 |
112635396 |
missense |
probably damaging |
1.00 |
R6126:Ryr3
|
UTSW |
2 |
112757670 |
missense |
probably damaging |
1.00 |
R6128:Ryr3
|
UTSW |
2 |
112954294 |
critical splice donor site |
probably null |
|
R6157:Ryr3
|
UTSW |
2 |
112841899 |
missense |
probably damaging |
0.98 |
R6258:Ryr3
|
UTSW |
2 |
112660104 |
missense |
probably damaging |
1.00 |
R6260:Ryr3
|
UTSW |
2 |
112660104 |
missense |
probably damaging |
1.00 |
R6373:Ryr3
|
UTSW |
2 |
112656544 |
missense |
probably damaging |
1.00 |
R6377:Ryr3
|
UTSW |
2 |
112632185 |
missense |
probably damaging |
1.00 |
R6443:Ryr3
|
UTSW |
2 |
112675933 |
missense |
possibly damaging |
0.88 |
R6478:Ryr3
|
UTSW |
2 |
112660068 |
missense |
probably damaging |
1.00 |
R6512:Ryr3
|
UTSW |
2 |
112867378 |
missense |
possibly damaging |
0.83 |
R6684:Ryr3
|
UTSW |
2 |
112753088 |
missense |
probably damaging |
1.00 |
R6753:Ryr3
|
UTSW |
2 |
112652610 |
missense |
probably damaging |
0.99 |
R6812:Ryr3
|
UTSW |
2 |
112946906 |
missense |
probably damaging |
1.00 |
R6910:Ryr3
|
UTSW |
2 |
112958175 |
missense |
probably damaging |
1.00 |
R6930:Ryr3
|
UTSW |
2 |
112860354 |
missense |
probably damaging |
1.00 |
R6946:Ryr3
|
UTSW |
2 |
112831200 |
missense |
probably damaging |
1.00 |
R6950:Ryr3
|
UTSW |
2 |
112686825 |
missense |
possibly damaging |
0.78 |
R6973:Ryr3
|
UTSW |
2 |
112766311 |
missense |
probably damaging |
0.99 |
R6984:Ryr3
|
UTSW |
2 |
112875091 |
missense |
probably damaging |
1.00 |
R7020:Ryr3
|
UTSW |
2 |
112753078 |
missense |
probably benign |
0.00 |
R7037:Ryr3
|
UTSW |
2 |
112949130 |
nonsense |
probably null |
|
R7166:Ryr3
|
UTSW |
2 |
112875028 |
missense |
probably damaging |
1.00 |
R7172:Ryr3
|
UTSW |
2 |
112661657 |
missense |
probably damaging |
1.00 |
R7177:Ryr3
|
UTSW |
2 |
112900843 |
missense |
probably damaging |
1.00 |
R7188:Ryr3
|
UTSW |
2 |
113028644 |
missense |
probably damaging |
1.00 |
R7202:Ryr3
|
UTSW |
2 |
112766319 |
missense |
probably damaging |
1.00 |
R7228:Ryr3
|
UTSW |
2 |
112861852 |
missense |
probably damaging |
1.00 |
R7256:Ryr3
|
UTSW |
2 |
112672246 |
nonsense |
probably null |
|
R7293:Ryr3
|
UTSW |
2 |
112902603 |
missense |
probably benign |
0.13 |
R7331:Ryr3
|
UTSW |
2 |
112763665 |
missense |
possibly damaging |
0.80 |
R7380:Ryr3
|
UTSW |
2 |
112640157 |
missense |
probably damaging |
1.00 |
R7391:Ryr3
|
UTSW |
2 |
112780977 |
critical splice donor site |
probably null |
|
R7455:Ryr3
|
UTSW |
2 |
112728866 |
missense |
probably damaging |
0.99 |
R7466:Ryr3
|
UTSW |
2 |
112926957 |
missense |
probably benign |
0.40 |
R7481:Ryr3
|
UTSW |
2 |
112678093 |
missense |
probably benign |
0.16 |
R7481:Ryr3
|
UTSW |
2 |
112678094 |
missense |
possibly damaging |
0.95 |
R7497:Ryr3
|
UTSW |
2 |
112730473 |
missense |
probably benign |
0.06 |
R7502:Ryr3
|
UTSW |
2 |
112712361 |
missense |
probably benign |
0.00 |
R7505:Ryr3
|
UTSW |
2 |
112712429 |
missense |
probably damaging |
0.99 |
R7581:Ryr3
|
UTSW |
2 |
112753027 |
missense |
probably damaging |
0.99 |
R7606:Ryr3
|
UTSW |
2 |
112645245 |
nonsense |
probably null |
|
R7677:Ryr3
|
UTSW |
2 |
112833900 |
missense |
probably benign |
|
R7703:Ryr3
|
UTSW |
2 |
112859765 |
missense |
probably damaging |
1.00 |
R7713:Ryr3
|
UTSW |
2 |
112635346 |
missense |
probably benign |
0.12 |
R7784:Ryr3
|
UTSW |
2 |
112775695 |
missense |
probably damaging |
1.00 |
R7831:Ryr3
|
UTSW |
2 |
112926838 |
missense |
possibly damaging |
0.92 |
R7851:Ryr3
|
UTSW |
2 |
112678517 |
missense |
probably benign |
0.05 |
R7873:Ryr3
|
UTSW |
2 |
112730428 |
missense |
probably benign |
0.28 |
R7890:Ryr3
|
UTSW |
2 |
112926912 |
missense |
probably damaging |
1.00 |
R7899:Ryr3
|
UTSW |
2 |
112646950 |
missense |
possibly damaging |
0.86 |
R7904:Ryr3
|
UTSW |
2 |
112781024 |
missense |
probably damaging |
1.00 |
R7929:Ryr3
|
UTSW |
2 |
112834188 |
missense |
probably benign |
0.00 |
R7982:Ryr3
|
UTSW |
2 |
112669249 |
small deletion |
probably benign |
|
R8018:Ryr3
|
UTSW |
2 |
112678432 |
missense |
probably damaging |
1.00 |
R8043:Ryr3
|
UTSW |
2 |
112775664 |
missense |
probably damaging |
1.00 |
R8043:Ryr3
|
UTSW |
2 |
112875077 |
missense |
probably damaging |
1.00 |
R8095:Ryr3
|
UTSW |
2 |
112668043 |
critical splice donor site |
probably null |
|
R8097:Ryr3
|
UTSW |
2 |
112670270 |
splice site |
probably null |
|
R8181:Ryr3
|
UTSW |
2 |
112778243 |
missense |
probably damaging |
0.98 |
R8276:Ryr3
|
UTSW |
2 |
112640617 |
missense |
probably damaging |
1.00 |
R8329:Ryr3
|
UTSW |
2 |
112662510 |
missense |
possibly damaging |
0.94 |
R8345:Ryr3
|
UTSW |
2 |
112652925 |
missense |
probably benign |
0.01 |
R8361:Ryr3
|
UTSW |
2 |
112653130 |
missense |
probably damaging |
0.98 |
R8421:Ryr3
|
UTSW |
2 |
112996584 |
missense |
probably benign |
0.00 |
R8424:Ryr3
|
UTSW |
2 |
112841894 |
missense |
possibly damaging |
0.91 |
R8471:Ryr3
|
UTSW |
2 |
112653780 |
missense |
probably damaging |
1.00 |
R8505:Ryr3
|
UTSW |
2 |
112675870 |
missense |
probably damaging |
0.98 |
R8535:Ryr3
|
UTSW |
2 |
112949088 |
critical splice donor site |
probably null |
|
R8540:Ryr3
|
UTSW |
2 |
112800022 |
missense |
probably damaging |
1.00 |
RF010:Ryr3
|
UTSW |
2 |
112775670 |
missense |
probably damaging |
0.97 |
RF040:Ryr3
|
UTSW |
2 |
112910524 |
critical splice acceptor site |
probably benign |
|
RF044:Ryr3
|
UTSW |
2 |
112910524 |
critical splice acceptor site |
probably benign |
|
X0057:Ryr3
|
UTSW |
2 |
112640159 |
missense |
probably damaging |
1.00 |
X0064:Ryr3
|
UTSW |
2 |
112912302 |
missense |
probably benign |
0.26 |
Z1088:Ryr3
|
UTSW |
2 |
112900916 |
missense |
probably damaging |
1.00 |
Z1176:Ryr3
|
UTSW |
2 |
112675920 |
missense |
probably benign |
0.05 |
Z1176:Ryr3
|
UTSW |
2 |
112712374 |
missense |
probably damaging |
1.00 |
Z1176:Ryr3
|
UTSW |
2 |
112728924 |
missense |
probably benign |
0.01 |
|
Posted On | 2016-08-02 |