Incidental Mutation 'IGL01019:Capn5'
ID |
53690 |
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 # |
IGL01019
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
97770766-97827481 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 97784971 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 168
(A168T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040971]
[ENSMUST00000107112]
|
AlphaFold |
O08688 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040971
AA Change: A168T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048183 Gene: ENSMUSG00000035547 AA Change: A168T
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: A168T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102729 Gene: ENSMUSG00000035547 AA Change: A168T
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 |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930022D16Rik |
T |
C |
11: 109,308,737 (GRCm39) |
|
probably benign |
Het |
Aatk |
T |
C |
11: 119,903,101 (GRCm39) |
S375G |
probably benign |
Het |
Abcg8 |
T |
C |
17: 84,999,423 (GRCm39) |
M173T |
probably benign |
Het |
B3galt2 |
A |
C |
1: 143,522,495 (GRCm39) |
R210S |
probably benign |
Het |
Bltp1 |
G |
T |
3: 37,061,133 (GRCm39) |
|
probably null |
Het |
Cbx7 |
C |
T |
15: 79,814,829 (GRCm39) |
G24D |
probably damaging |
Het |
Ccdc7a |
A |
T |
8: 129,788,099 (GRCm39) |
S77T |
probably benign |
Het |
Cd200r2 |
T |
A |
16: 44,729,832 (GRCm39) |
|
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,406,377 (GRCm39) |
H32R |
probably benign |
Het |
Chdh |
A |
T |
14: 29,753,289 (GRCm39) |
N66I |
probably benign |
Het |
Clca3a2 |
G |
A |
3: 144,519,388 (GRCm39) |
Q263* |
probably null |
Het |
Dcc |
T |
C |
18: 71,942,161 (GRCm39) |
I319V |
probably benign |
Het |
Depdc5 |
G |
T |
5: 33,050,745 (GRCm39) |
M170I |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,607,117 (GRCm39) |
L2140Q |
probably benign |
Het |
Frem3 |
G |
A |
8: 81,341,763 (GRCm39) |
G1352E |
probably benign |
Het |
Fsd1l |
T |
A |
4: 53,694,742 (GRCm39) |
C389S |
probably damaging |
Het |
Grin2c |
C |
T |
11: 115,148,936 (GRCm39) |
A221T |
possibly damaging |
Het |
Gstz1 |
C |
A |
12: 87,210,575 (GRCm39) |
P153T |
probably damaging |
Het |
Itgb2 |
T |
C |
10: 77,378,237 (GRCm39) |
S22P |
possibly damaging |
Het |
Krt87 |
G |
T |
15: 101,336,312 (GRCm39) |
Q114K |
possibly damaging |
Het |
Krtap5-4 |
A |
C |
7: 141,857,647 (GRCm39) |
S106R |
unknown |
Het |
Lats1 |
T |
C |
10: 7,581,435 (GRCm39) |
V740A |
probably damaging |
Het |
Mcm9 |
C |
A |
10: 53,506,041 (GRCm39) |
G78C |
probably damaging |
Het |
Mn1 |
G |
A |
5: 111,569,413 (GRCm39) |
E1128K |
possibly damaging |
Het |
Myo1f |
G |
A |
17: 33,811,977 (GRCm39) |
R592H |
possibly damaging |
Het |
Nfat5 |
G |
T |
8: 108,094,146 (GRCm39) |
A277S |
probably damaging |
Het |
Nfkbia |
T |
A |
12: 55,537,327 (GRCm39) |
Y254F |
probably damaging |
Het |
Nr3c2 |
A |
T |
8: 77,635,843 (GRCm39) |
N315Y |
probably damaging |
Het |
Otof |
T |
C |
5: 30,562,560 (GRCm39) |
M258V |
probably benign |
Het |
Panx3 |
C |
T |
9: 37,572,767 (GRCm39) |
C261Y |
probably damaging |
Het |
Pdia2 |
C |
A |
17: 26,417,896 (GRCm39) |
G38W |
probably damaging |
Het |
Psg19 |
G |
T |
7: 18,527,971 (GRCm39) |
Y257* |
probably null |
Het |
Ptpre |
A |
T |
7: 135,280,054 (GRCm39) |
K586* |
probably null |
Het |
Reps1 |
A |
G |
10: 18,000,643 (GRCm39) |
R752G |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,368,633 (GRCm39) |
D277E |
possibly damaging |
Het |
Rpl21-ps6 |
A |
G |
17: 56,222,671 (GRCm39) |
|
noncoding transcript |
Het |
Serpinf2 |
T |
A |
11: 75,327,333 (GRCm39) |
E198V |
possibly damaging |
Het |
Sh3tc1 |
A |
G |
5: 35,860,719 (GRCm39) |
L1046P |
probably damaging |
Het |
Snw1 |
T |
C |
12: 87,497,711 (GRCm39) |
E426G |
probably benign |
Het |
Sord |
T |
A |
2: 122,094,564 (GRCm39) |
N317K |
probably benign |
Het |
Taar3 |
A |
T |
10: 23,826,330 (GRCm39) |
D292V |
probably damaging |
Het |
Tdrd3 |
C |
A |
14: 87,709,618 (GRCm39) |
T94K |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,687,165 (GRCm39) |
E736* |
probably null |
Het |
Usp32 |
A |
G |
11: 84,930,091 (GRCm39) |
V562A |
probably damaging |
Het |
Vmn1r169 |
T |
G |
7: 23,276,611 (GRCm39) |
M1R |
probably null |
Het |
Vmn2r3 |
C |
T |
3: 64,167,304 (GRCm39) |
C609Y |
probably damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,055,739 (GRCm39) |
T800A |
probably benign |
Het |
Vmn2r72 |
G |
A |
7: 85,387,542 (GRCm39) |
T674I |
probably benign |
Het |
Zfp160 |
T |
A |
17: 21,241,088 (GRCm39) |
M52K |
possibly damaging |
Het |
Zfp607a |
T |
A |
7: 27,578,042 (GRCm39) |
C371S |
probably damaging |
Het |
|
Other mutations in Capn5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01311:Capn5
|
APN |
7 |
97,811,130 (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 |
2013-06-28 |