Incidental Mutation 'IGL01311:Capn5'
| ID |
73697 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Capn5
|
| Ensembl Gene |
ENSMUSG00000035547 |
| Gene Name |
calpain 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL01311
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
97770766-97827481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 97811130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 53
(R53L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040971]
[ENSMUST00000107112]
[ENSMUST00000129430]
[ENSMUST00000155056]
|
| AlphaFold |
O08688 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040971
AA Change: R53L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048183
Gene: ENSMUSG00000035547
AA Change: R53L
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
8 |
351 |
4.18e-212 |
SMART |
|
calpain_III
|
353 |
496 |
1.21e-66 |
SMART |
|
C2
|
518 |
619 |
1.29e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107112
AA Change: R53L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102729
Gene: ENSMUSG00000035547
AA Change: R53L
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
8 |
351 |
4.18e-212 |
SMART |
|
calpain_III
|
353 |
496 |
1.21e-66 |
SMART |
|
C2
|
518 |
619 |
1.29e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129430
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134638
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155056
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the calpain family of proteins. Unlike many members of the calpain gene family, this gene lacks a calmodulin-like domain, required for calcium binding. Mouse models for Huntington's disease displayed increased levels of the protein encoded by this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for one allele of this gene occasionally exhibit reduced viability but are usually normal. Homozygotes for another allele die as embryos. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
A |
T |
7: 101,037,343 (GRCm39) |
K457* |
probably null |
Het |
| Arhgef10 |
C |
A |
8: 15,041,054 (GRCm39) |
|
probably null |
Het |
| Becn1 |
C |
T |
11: 101,182,342 (GRCm39) |
G281S |
probably damaging |
Het |
| Borcs8 |
A |
G |
8: 70,617,818 (GRCm39) |
S59G |
probably damaging |
Het |
| Brd10 |
C |
T |
19: 29,731,420 (GRCm39) |
V531I |
probably benign |
Het |
| Cdk5 |
C |
T |
5: 24,624,593 (GRCm39) |
|
probably null |
Het |
| Cnksr1 |
A |
G |
4: 133,957,777 (GRCm39) |
L434P |
probably damaging |
Het |
| Col22a1 |
C |
T |
15: 71,845,486 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,667,299 (GRCm39) |
D811G |
probably damaging |
Het |
| Haus3 |
G |
A |
5: 34,324,988 (GRCm39) |
Q224* |
probably null |
Het |
| Jakmip2 |
A |
G |
18: 43,690,389 (GRCm39) |
|
probably benign |
Het |
| Jam3 |
T |
G |
9: 27,010,019 (GRCm39) |
T296P |
probably damaging |
Het |
| Kcnrg |
T |
C |
14: 61,849,274 (GRCm39) |
L245P |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,305,059 (GRCm39) |
L909P |
probably damaging |
Het |
| Klrc3 |
T |
C |
6: 129,618,375 (GRCm39) |
D136G |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,425,502 (GRCm39) |
R1450S |
unknown |
Het |
| Ltf |
T |
C |
9: 110,860,080 (GRCm39) |
|
probably benign |
Het |
| Meig1 |
A |
T |
2: 3,410,245 (GRCm39) |
V85D |
possibly damaging |
Het |
| Mrgprb2 |
T |
A |
7: 48,201,746 (GRCm39) |
E326D |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,322,238 (GRCm39) |
D65V |
possibly damaging |
Het |
| Or4c100 |
T |
C |
2: 88,356,104 (GRCm39) |
F59S |
possibly damaging |
Het |
| Or52h7 |
T |
C |
7: 104,214,036 (GRCm39) |
Y203H |
probably damaging |
Het |
| Padi2 |
G |
A |
4: 140,644,948 (GRCm39) |
V61I |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,174 (GRCm39) |
S753G |
possibly damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,144,591 (GRCm39) |
S314P |
probably benign |
Het |
| Serpina3i |
T |
C |
12: 104,233,946 (GRCm39) |
S305P |
probably damaging |
Het |
| Slc16a4 |
G |
T |
3: 107,199,821 (GRCm39) |
V23F |
possibly damaging |
Het |
| Slc25a34 |
G |
A |
4: 141,348,747 (GRCm39) |
T239I |
possibly damaging |
Het |
| Srebf2 |
T |
C |
15: 82,076,404 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,625,885 (GRCm39) |
V1355A |
possibly damaging |
Het |
| Tcf12 |
A |
T |
9: 71,765,938 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,586,077 (GRCm39) |
E171G |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,206,356 (GRCm39) |
H4864R |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,682,939 (GRCm39) |
L755* |
probably null |
Het |
| Zfp292 |
C |
T |
4: 34,807,961 (GRCm39) |
M1699I |
probably benign |
Het |
| Zmynd8 |
T |
C |
2: 165,647,129 (GRCm39) |
D880G |
probably damaging |
Het |
|
| Other mutations in Capn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Capn5
|
APN |
7 |
97,784,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01768:Capn5
|
APN |
7 |
97,774,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01926:Capn5
|
APN |
7 |
97,777,679 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02076:Capn5
|
APN |
7 |
97,780,950 (GRCm39) |
nonsense |
probably null |
|
|
IGL02505:Capn5
|
APN |
7 |
97,780,403 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
BB007:Capn5
|
UTSW |
7 |
97,773,085 (GRCm39) |
missense |
probably benign |
|
|
BB017:Capn5
|
UTSW |
7 |
97,773,085 (GRCm39) |
missense |
probably benign |
|
|
PIT4466001:Capn5
|
UTSW |
7 |
97,773,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0178:Capn5
|
UTSW |
7 |
97,782,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0518:Capn5
|
UTSW |
7 |
97,782,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Capn5
|
UTSW |
7 |
97,782,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Capn5
|
UTSW |
7 |
97,781,049 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2005:Capn5
|
UTSW |
7 |
97,778,570 (GRCm39) |
missense |
probably benign |
|
|
R2258:Capn5
|
UTSW |
7 |
97,785,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2327:Capn5
|
UTSW |
7 |
97,775,574 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3797:Capn5
|
UTSW |
7 |
97,775,036 (GRCm39) |
missense |
probably null |
0.77 |
|
R4032:Capn5
|
UTSW |
7 |
97,778,453 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4620:Capn5
|
UTSW |
7 |
97,778,578 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4717:Capn5
|
UTSW |
7 |
97,773,126 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4777:Capn5
|
UTSW |
7 |
97,780,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Capn5
|
UTSW |
7 |
97,775,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Capn5
|
UTSW |
7 |
97,780,879 (GRCm39) |
splice site |
probably null |
|
|
R4965:Capn5
|
UTSW |
7 |
97,775,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5568:Capn5
|
UTSW |
7 |
97,775,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5732:Capn5
|
UTSW |
7 |
97,778,593 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5792:Capn5
|
UTSW |
7 |
97,780,402 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6892:Capn5
|
UTSW |
7 |
97,785,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6923:Capn5
|
UTSW |
7 |
97,778,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Capn5
|
UTSW |
7 |
97,775,038 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7391:Capn5
|
UTSW |
7 |
97,780,426 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7553:Capn5
|
UTSW |
7 |
97,773,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7930:Capn5
|
UTSW |
7 |
97,773,085 (GRCm39) |
missense |
probably benign |
|
|
R8876:Capn5
|
UTSW |
7 |
97,780,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8914:Capn5
|
UTSW |
7 |
97,784,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9012:Capn5
|
UTSW |
7 |
97,814,050 (GRCm39) |
start gained |
probably benign |
|
|
R9087:Capn5
|
UTSW |
7 |
97,775,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation