Incidental Mutation 'R3830:Capn1'
| ID |
273969 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn1
|
| Ensembl Gene |
ENSMUSG00000024942 |
| Gene Name |
calpain 1 |
| Synonyms |
mu-calpin, Capa1, Capa-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5988546-6015825 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5994847 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 465
(L465Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025891]
[ENSMUST00000164843]
|
| AlphaFold |
O35350 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025891
AA Change: L465Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
AA Change: L465Q
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
37 |
362 |
6.79e-180 |
SMART |
|
calpain_III
|
365 |
521 |
7.38e-94 |
SMART |
|
EFh
|
588 |
616 |
1.13e1 |
SMART |
|
EFh
|
618 |
646 |
2.95e0 |
SMART |
|
EFh
|
683 |
711 |
7.65e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164843
AA Change: L465Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
AA Change: L465Q
| Domain | Start | End | E-Value | Type |
|---|
|
CysPc
|
37 |
362 |
6.79e-180 |
SMART |
|
calpain_III
|
365 |
521 |
7.38e-94 |
SMART |
|
EFh
|
588 |
616 |
1.13e1 |
SMART |
|
EFh
|
618 |
646 |
2.95e0 |
SMART |
|
EFh
|
683 |
711 |
7.65e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
|
| 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 the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Animals homozygous for a mutation of this gene exhibit decreased platelet aggregation and defective clot retraction although bleeding times remain similar to wild-type. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agpat5 |
A |
G |
8: 18,879,605 (GRCm38) |
E250G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,255,511 (GRCm38) |
T960S |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,563,150 (GRCm38) |
L539H |
probably damaging |
Het |
| Cd300c |
A |
G |
11: 114,959,627 (GRCm38) |
F117L |
probably benign |
Het |
| Cep104 |
T |
G |
4: 153,984,943 (GRCm38) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,491,415 (GRCm38) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,209,650 (GRCm38) |
G1341V |
probably damaging |
Het |
| Cplane2 |
C |
T |
4: 141,218,589 (GRCm38) |
R148C |
probably damaging |
Het |
| Cspg4 |
T |
G |
9: 56,897,621 (GRCm38) |
D1905E |
probably damaging |
Het |
| Dhx37 |
T |
C |
5: 125,431,613 (GRCm38) |
K86R |
probably benign |
Het |
| Drd2 |
T |
A |
9: 49,402,143 (GRCm38) |
V204D |
probably damaging |
Het |
| Gclc |
A |
T |
9: 77,791,960 (GRCm38) |
I520L |
probably benign |
Het |
| Gpat3 |
A |
G |
5: 100,884,386 (GRCm38) |
D183G |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,180,155 (GRCm38) |
P286L |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,353,633 (GRCm38) |
E563G |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,761,229 (GRCm38) |
L332* |
probably null |
Het |
| Grpel1 |
T |
A |
5: 36,469,483 (GRCm38) |
N36K |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,346,058 (GRCm38) |
S198N |
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,104,796 (GRCm38) |
I231T |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,489,093 (GRCm38) |
I114T |
possibly damaging |
Het |
| Mast4 |
G |
T |
13: 102,738,811 (GRCm38) |
H1350N |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,118,692 (GRCm38) |
|
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,385,793 (GRCm38) |
D110H |
probably damaging |
Het |
| Or2b11 |
G |
T |
11: 59,571,601 (GRCm38) |
N46K |
probably damaging |
Het |
| Pigb |
T |
C |
9: 73,017,473 (GRCm38) |
N468S |
probably benign |
Het |
| Pik3r2 |
G |
A |
8: 70,770,421 (GRCm38) |
R452C |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,873,400 (GRCm38) |
T123A |
probably damaging |
Het |
| Ptges3l |
T |
C |
11: 101,421,617 (GRCm38) |
*67W |
probably null |
Het |
| Rgs12 |
G |
A |
5: 34,966,015 (GRCm38) |
V381M |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,708,599 (GRCm38) |
A47S |
probably benign |
Het |
| Six2 |
G |
T |
17: 85,685,187 (GRCm38) |
S296Y |
probably damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,632,736 (GRCm38) |
C392* |
probably null |
Het |
| Snx5 |
A |
T |
2: 144,254,901 (GRCm38) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,096,177 (GRCm38) |
L1481P |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,220,108 (GRCm38) |
I57V |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,399,951 (GRCm38) |
Q368K |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,401,209 (GRCm38) |
K2142N |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,619,878 (GRCm38) |
F744Y |
probably damaging |
Het |
|
| Other mutations in Capn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00582:Capn1
|
APN |
19 |
6,007,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01314:Capn1
|
APN |
19 |
5,989,984 (GRCm38) |
splice site |
probably benign |
|
|
R0044:Capn1
|
UTSW |
19 |
6,014,343 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1496:Capn1
|
UTSW |
19 |
6,007,498 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1646:Capn1
|
UTSW |
19 |
5,997,730 (GRCm38) |
missense |
probably benign |
|
|
R1852:Capn1
|
UTSW |
19 |
6,009,103 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1924:Capn1
|
UTSW |
19 |
5,990,056 (GRCm38) |
splice site |
probably null |
|
|
R2006:Capn1
|
UTSW |
19 |
5,991,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2109:Capn1
|
UTSW |
19 |
6,014,358 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3704:Capn1
|
UTSW |
19 |
6,007,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3705:Capn1
|
UTSW |
19 |
6,007,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4664:Capn1
|
UTSW |
19 |
6,011,015 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4665:Capn1
|
UTSW |
19 |
6,011,015 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4666:Capn1
|
UTSW |
19 |
6,011,015 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4694:Capn1
|
UTSW |
19 |
5,994,731 (GRCm38) |
nonsense |
probably null |
|
|
R4745:Capn1
|
UTSW |
19 |
5,993,916 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5103:Capn1
|
UTSW |
19 |
6,009,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5149:Capn1
|
UTSW |
19 |
5,990,334 (GRCm38) |
splice site |
probably null |
|
|
R5569:Capn1
|
UTSW |
19 |
6,013,660 (GRCm38) |
missense |
probably benign |
|
|
R5636:Capn1
|
UTSW |
19 |
6,014,442 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5906:Capn1
|
UTSW |
19 |
6,011,421 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5907:Capn1
|
UTSW |
19 |
5,997,797 (GRCm38) |
missense |
probably benign |
|
|
R7038:Capn1
|
UTSW |
19 |
6,014,319 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7091:Capn1
|
UTSW |
19 |
5,991,556 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7307:Capn1
|
UTSW |
19 |
5,993,908 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7592:Capn1
|
UTSW |
19 |
6,014,439 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7779:Capn1
|
UTSW |
19 |
5,994,086 (GRCm38) |
missense |
probably benign |
|
|
R8514:Capn1
|
UTSW |
19 |
5,997,824 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8708:Capn1
|
UTSW |
19 |
6,011,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9452:Capn1
|
UTSW |
19 |
6,007,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Capn1
|
UTSW |
19 |
6,014,278 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATCTAGTTCCCTGCAGAG -3'
(R):5'- TGACTTACCAGGGTCTCACAG -3'
Sequencing Primer
(F):5'- ATGGGGGTCTGCTACTCAC -3'
(R):5'- AGGGTCTCACAGGCTGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation