Incidental Mutation 'IGL02076:Capn5'
ID |
185981 |
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 # |
IGL02076
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
97770766-97827481 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 97780950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 276
(K276*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102729
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040971]
[ENSMUST00000107112]
|
AlphaFold |
O08688 |
Predicted Effect |
probably null
Transcript: ENSMUST00000040971
AA Change: K276*
|
SMART Domains |
Protein: ENSMUSP00000048183 Gene: ENSMUSG00000035547 AA Change: K276*
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 null
Transcript: ENSMUST00000107112
AA Change: K276*
|
SMART Domains |
Protein: ENSMUSP00000102729 Gene: ENSMUSG00000035547 AA Change: K276*
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
T |
C |
5: 8,186,900 (GRCm39) |
Y407C |
probably damaging |
Het |
Cct4 |
T |
C |
11: 22,952,394 (GRCm39) |
V495A |
probably damaging |
Het |
Dapk3 |
A |
G |
10: 81,026,131 (GRCm39) |
K141E |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,313,385 (GRCm39) |
N4264S |
probably damaging |
Het |
Dok1 |
A |
G |
6: 83,009,812 (GRCm39) |
L99P |
probably damaging |
Het |
Ebf3 |
A |
G |
7: 136,833,030 (GRCm39) |
V215A |
possibly damaging |
Het |
Efnb2 |
A |
G |
8: 8,710,488 (GRCm39) |
S43P |
probably benign |
Het |
Jhy |
G |
A |
9: 40,828,674 (GRCm39) |
Q411* |
probably null |
Het |
Krt73 |
G |
A |
15: 101,708,370 (GRCm39) |
T229I |
probably damaging |
Het |
Mroh8 |
A |
G |
2: 157,113,882 (GRCm39) |
|
probably null |
Het |
Olfm1 |
A |
G |
2: 28,112,637 (GRCm39) |
T223A |
probably damaging |
Het |
Oprk1 |
T |
A |
1: 5,672,512 (GRCm39) |
D216E |
probably damaging |
Het |
Or4b1d |
T |
A |
2: 89,969,159 (GRCm39) |
E108V |
probably damaging |
Het |
Or8g23 |
A |
G |
9: 38,971,881 (GRCm39) |
L27P |
probably damaging |
Het |
Pim1 |
T |
A |
17: 29,712,777 (GRCm39) |
I230N |
probably damaging |
Het |
Ppm1f |
A |
C |
16: 16,732,035 (GRCm39) |
T162P |
possibly damaging |
Het |
Rbbp8 |
T |
C |
18: 11,838,876 (GRCm39) |
Y186H |
probably damaging |
Het |
Sema4a |
C |
T |
3: 88,357,829 (GRCm39) |
R225H |
probably damaging |
Het |
Slc15a2 |
A |
C |
16: 36,582,743 (GRCm39) |
F215C |
probably damaging |
Het |
Slc25a1 |
A |
G |
16: 17,745,490 (GRCm39) |
C41R |
possibly damaging |
Het |
Stil |
C |
A |
4: 114,880,834 (GRCm39) |
H459Q |
probably benign |
Het |
Tbc1d32 |
A |
G |
10: 55,964,499 (GRCm39) |
I900T |
possibly damaging |
Het |
Tmem33 |
T |
C |
5: 67,443,446 (GRCm39) |
F208L |
probably damaging |
Het |
Utp25 |
T |
C |
1: 192,812,367 (GRCm39) |
H31R |
probably damaging |
Het |
Vmn2r72 |
A |
G |
7: 85,387,575 (GRCm39) |
V663A |
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 |
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 |
|
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 |
2014-05-07 |