Incidental Mutation 'R0932:Capn12'
| ID |
80970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn12
|
| Ensembl Gene |
ENSMUSG00000054083 |
| Gene Name |
calpain 12 |
| Synonyms |
|
| MMRRC Submission |
039076-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0932 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28580890-28593010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28587123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 364
(V364A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066880]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066880
AA Change: V364A
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000069055
Gene: ENSMUSG00000054083
AA Change: V364A
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
27 |
349 |
7.8e-139 |
SMART |
|
calpain_III
|
353 |
529 |
7.47e-72 |
SMART |
|
SCOP:d1alva_
|
552 |
720 |
3e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208299
|
| Meta Mutation Damage Score |
0.0929 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.2%
- 20x: 97.1%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
C |
16: 90,852,995 (GRCm39) |
N47S |
probably benign |
Het |
| AA986860 |
T |
C |
1: 130,665,430 (GRCm39) |
|
probably null |
Het |
| Akap9 |
T |
A |
5: 4,096,492 (GRCm39) |
C2456S |
possibly damaging |
Het |
| Anks3 |
C |
T |
16: 4,771,691 (GRCm39) |
R111H |
probably damaging |
Het |
| Atp1a3 |
A |
T |
7: 24,687,401 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
T |
C |
2: 118,746,408 (GRCm39) |
L9P |
probably damaging |
Het |
| Cds1 |
T |
A |
5: 101,944,891 (GRCm39) |
C122S |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,459 (GRCm39) |
T351A |
possibly damaging |
Het |
| Cuzd1 |
T |
C |
7: 130,921,923 (GRCm39) |
|
probably benign |
Het |
| Daxx |
T |
C |
17: 34,129,635 (GRCm39) |
L72P |
probably damaging |
Het |
| Depdc1b |
A |
G |
13: 108,523,369 (GRCm39) |
I415V |
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,024,845 (GRCm39) |
V675A |
probably damaging |
Het |
| Dtx4 |
A |
G |
19: 12,469,515 (GRCm39) |
V204A |
probably benign |
Het |
| Ganc |
T |
C |
2: 120,288,610 (GRCm39) |
V872A |
probably damaging |
Het |
| Gm14403 |
A |
T |
2: 177,198,810 (GRCm39) |
R38W |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,719,423 (GRCm39) |
S2G |
unknown |
Het |
| Gm8159 |
G |
A |
14: 4,635,226 (GRCm38) |
R148H |
possibly damaging |
Het |
| Gsdmc3 |
T |
C |
15: 63,730,400 (GRCm39) |
|
probably null |
Het |
| Ibtk |
C |
T |
9: 85,617,099 (GRCm39) |
G158R |
probably damaging |
Het |
| Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
| Kctd7 |
A |
T |
5: 130,180,510 (GRCm39) |
|
probably null |
Het |
| Kdr |
T |
C |
5: 76,129,465 (GRCm39) |
T141A |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,212,109 (GRCm39) |
Q176L |
possibly damaging |
Het |
| Krt71 |
T |
C |
15: 101,645,195 (GRCm39) |
N372S |
probably benign |
Het |
| Mllt3 |
A |
G |
4: 87,707,621 (GRCm39) |
V446A |
probably damaging |
Het |
| Or1j21 |
T |
A |
2: 36,683,903 (GRCm39) |
Y218* |
probably null |
Het |
| Or4k38 |
A |
T |
2: 111,165,543 (GRCm39) |
D293E |
probably benign |
Het |
| Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
| Or5p52 |
A |
C |
7: 107,502,397 (GRCm39) |
T158P |
possibly damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,540 (GRCm39) |
V200A |
possibly damaging |
Het |
| Poldip2 |
T |
C |
11: 78,403,294 (GRCm39) |
S18P |
possibly damaging |
Het |
| Ptprd |
T |
G |
4: 76,055,122 (GRCm39) |
Q193P |
probably damaging |
Het |
| Reck |
C |
T |
4: 43,922,838 (GRCm39) |
T371M |
possibly damaging |
Het |
| Rnf144b |
G |
T |
13: 47,374,001 (GRCm39) |
R66L |
probably null |
Het |
| Rpn2 |
T |
A |
2: 157,125,691 (GRCm39) |
D67E |
possibly damaging |
Het |
| Scn11a |
A |
G |
9: 119,636,876 (GRCm39) |
F275S |
probably damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,838,805 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,264,658 (GRCm39) |
I253T |
probably damaging |
Het |
| Tppp2 |
C |
T |
14: 52,157,881 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
A |
C |
Y: 1,315,930 (GRCm39) |
N2068K |
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,478,380 (GRCm39) |
C536R |
probably damaging |
Het |
|
| Other mutations in Capn12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01717:Capn12
|
APN |
7 |
28,588,530 (GRCm39) |
missense |
probably benign |
|
|
IGL01758:Capn12
|
APN |
7 |
28,586,048 (GRCm39) |
splice site |
probably null |
|
|
IGL02381:Capn12
|
APN |
7 |
28,585,880 (GRCm39) |
splice site |
probably benign |
|
|
IGL02863:Capn12
|
APN |
7 |
28,582,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03237:Capn12
|
APN |
7 |
28,590,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Capn12
|
UTSW |
7 |
28,585,961 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0027:Capn12
|
UTSW |
7 |
28,581,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0047:Capn12
|
UTSW |
7 |
28,589,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0047:Capn12
|
UTSW |
7 |
28,589,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0070:Capn12
|
UTSW |
7 |
28,588,551 (GRCm39) |
unclassified |
probably benign |
|
|
R0070:Capn12
|
UTSW |
7 |
28,588,551 (GRCm39) |
unclassified |
probably benign |
|
|
R0533:Capn12
|
UTSW |
7 |
28,587,108 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1524:Capn12
|
UTSW |
7 |
28,582,189 (GRCm39) |
splice site |
probably benign |
|
|
R4758:Capn12
|
UTSW |
7 |
28,592,148 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4793:Capn12
|
UTSW |
7 |
28,592,094 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4983:Capn12
|
UTSW |
7 |
28,589,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5560:Capn12
|
UTSW |
7 |
28,582,285 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5835:Capn12
|
UTSW |
7 |
28,581,383 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5886:Capn12
|
UTSW |
7 |
28,587,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6247:Capn12
|
UTSW |
7 |
28,588,077 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6441:Capn12
|
UTSW |
7 |
28,587,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7136:Capn12
|
UTSW |
7 |
28,582,532 (GRCm39) |
splice site |
probably null |
|
|
R7757:Capn12
|
UTSW |
7 |
28,582,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Capn12
|
UTSW |
7 |
28,582,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8888:Capn12
|
UTSW |
7 |
28,585,949 (GRCm39) |
splice site |
probably benign |
|
|
R8924:Capn12
|
UTSW |
7 |
28,582,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Capn12
|
UTSW |
7 |
28,590,378 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9209:Capn12
|
UTSW |
7 |
28,581,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Capn12
|
UTSW |
7 |
28,587,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTGAGGACTTGGAGACATTGCC -3'
(R):5'- ATGAGTGACAACAGGACCGTGC -3'
Sequencing Primer
(F):5'- CTTTAGGGAACTGGGGGCAC -3'
(R):5'- AGGGTCCCTCTTCATCATCG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation