Incidental Mutation 'R3797:Capn5'
| ID |
272797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn5
|
| Ensembl Gene |
ENSMUSG00000035547 |
| Gene Name |
calpain 5 |
| Synonyms |
|
| MMRRC Submission |
040758-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R3797 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
97770766-97827481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97775036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 535
(G535R)
|
| 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: G535R
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048183
Gene: ENSMUSG00000035547
AA Change: G535R
| 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: G535R
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102729
Gene: ENSMUSG00000035547
AA Change: G535R
| 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 |
|
| Meta Mutation Damage Score |
0.3586 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| B4galt1 |
G |
A |
4: 40,807,258 (GRCm39) |
T376I |
probably benign |
Het |
| Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
| Ccdc170 |
G |
A |
10: 4,510,920 (GRCm39) |
V660I |
possibly damaging |
Het |
| Cdc73 |
A |
T |
1: 143,553,461 (GRCm39) |
D215E |
probably benign |
Het |
| Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
| Clns1a |
G |
A |
7: 97,346,042 (GRCm39) |
G36R |
probably benign |
Het |
| Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
| Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
| Dsp |
T |
A |
13: 38,361,260 (GRCm39) |
|
probably null |
Het |
| Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 101,848,466 (GRCm39) |
T611A |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,127,204 (GRCm39) |
I683M |
possibly damaging |
Het |
| Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
| Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,669,625 (GRCm39) |
Q1455R |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,573,505 (GRCm39) |
E131G |
possibly damaging |
Het |
| Or51v14 |
C |
T |
7: 103,260,654 (GRCm39) |
R302Q |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,942,746 (GRCm39) |
I465V |
probably benign |
Het |
| Pcdhgb8 |
T |
C |
18: 37,895,728 (GRCm39) |
I266T |
probably benign |
Het |
| Pde4d |
T |
C |
13: 109,769,431 (GRCm39) |
S40P |
probably benign |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Polk |
A |
T |
13: 96,623,490 (GRCm39) |
|
probably benign |
Het |
| Ppl |
T |
C |
16: 4,922,414 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,287,500 (GRCm39) |
C218R |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
| Skida1 |
C |
A |
2: 18,050,708 (GRCm39) |
E815* |
probably null |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Svil |
T |
A |
18: 5,060,534 (GRCm39) |
C802S |
probably benign |
Het |
| Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
G |
A |
15: 9,310,727 (GRCm39) |
W336* |
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,723,311 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,862,602 (GRCm39) |
I590N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
| Xpnpep1 |
A |
T |
19: 52,994,773 (GRCm39) |
V285D |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,665,702 (GRCm39) |
K313R |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGCTGTCTCTGAACCCC -3'
(R):5'- TGCCATGAGGTTTGCTTAGCTC -3'
Sequencing Primer
(F):5'- CCAGCGGCTATCTGATGTC -3'
(R):5'- GTTTTGAACCCCATCTGCACATTTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation