Incidental Mutation 'R5149:Capn1'
| ID |
395274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn1
|
| Ensembl Gene |
ENSMUSG00000024942 |
| Gene Name |
calpain 1 |
| Synonyms |
mu-calpin, Capa1, Capa-1 |
| MMRRC Submission |
042732-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5149 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5988546-6015825 bp(-) (GRCm38) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 5990334 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025891]
[ENSMUST00000041827]
[ENSMUST00000164843]
|
| AlphaFold |
O35350 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025891
|
| SMART Domains |
Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
| 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 null
Transcript: ENSMUST00000041827
|
| SMART Domains |
Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
100 |
521 |
2.5e-27 |
PFAM |
|
Pfam:MFS_1
|
132 |
475 |
1.6e-23 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164843
|
| SMART Domains |
Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
A |
G |
16: 22,898,923 (GRCm38) |
T245A |
probably benign |
Het |
| Akr1c13 |
G |
T |
13: 4,194,169 (GRCm38) |
V74L |
probably benign |
Het |
| Amt |
G |
A |
9: 108,301,451 (GRCm38) |
V389I |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,558,996 (GRCm38) |
N159S |
probably benign |
Het |
| Atp1a4 |
A |
G |
1: 172,232,005 (GRCm38) |
I840T |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,331,427 (GRCm38) |
|
probably benign |
Het |
| Cyp2j5 |
A |
G |
4: 96,659,507 (GRCm38) |
L166P |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,111,524 (GRCm38) |
T223S |
unknown |
Het |
| Dchs1 |
G |
A |
7: 105,755,658 (GRCm38) |
T2559I |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,850,926 (GRCm38) |
S258* |
probably null |
Het |
| Dpep1 |
A |
T |
8: 123,200,438 (GRCm38) |
T309S |
probably benign |
Het |
| Epha5 |
A |
T |
5: 84,150,358 (GRCm38) |
F559L |
probably damaging |
Het |
| Gm3409 |
T |
C |
5: 146,537,761 (GRCm38) |
I29T |
possibly damaging |
Het |
| Grhl1 |
CAGAAGAAG |
CAGAAG |
12: 24,612,179 (GRCm38) |
|
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,668,037 (GRCm38) |
R941S |
probably damaging |
Het |
| Helb |
C |
T |
10: 120,105,743 (GRCm38) |
E347K |
probably benign |
Het |
| Ighv14-3 |
A |
G |
12: 114,060,090 (GRCm38) |
S36P |
probably damaging |
Het |
| Klrb1c |
T |
A |
6: 128,783,707 (GRCm38) |
M211L |
probably benign |
Het |
| Larp7 |
C |
T |
3: 127,540,811 (GRCm38) |
E510K |
probably damaging |
Het |
| Lrig1 |
C |
T |
6: 94,628,044 (GRCm38) |
R190Q |
possibly damaging |
Het |
| March6 |
A |
G |
15: 31,461,994 (GRCm38) |
S863P |
possibly damaging |
Het |
| Mgst2 |
A |
G |
3: 51,682,537 (GRCm38) |
N132S |
probably benign |
Het |
| Nlgn2 |
C |
T |
11: 69,825,390 (GRCm38) |
R775H |
probably damaging |
Het |
| Olfr1138 |
A |
T |
2: 87,737,405 (GRCm38) |
S306R |
probably benign |
Het |
| Olfr135 |
A |
C |
17: 38,208,317 (GRCm38) |
E24A |
possibly damaging |
Het |
| Olfr804 |
T |
C |
10: 129,705,508 (GRCm38) |
V210A |
probably benign |
Het |
| Papln |
A |
T |
12: 83,771,882 (GRCm38) |
|
probably null |
Het |
| Poteg |
C |
T |
8: 27,481,643 (GRCm38) |
S395L |
possibly damaging |
Het |
| Prox1 |
T |
A |
1: 190,147,053 (GRCm38) |
I643F |
possibly damaging |
Het |
| Sept4 |
A |
G |
11: 87,589,245 (GRCm38) |
E211G |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 33,832,485 (GRCm38) |
F422L |
probably damaging |
Het |
| Slc22a19 |
A |
G |
19: 7,711,138 (GRCm38) |
L19P |
probably damaging |
Het |
| Snf8 |
G |
T |
11: 96,043,460 (GRCm38) |
A136S |
probably benign |
Het |
| Sparcl1 |
C |
T |
5: 104,085,763 (GRCm38) |
M573I |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,247,434 (GRCm38) |
T2409A |
probably damaging |
Het |
| Tat |
A |
G |
8: 109,996,818 (GRCm38) |
S313G |
probably benign |
Het |
| Tep1 |
A |
T |
14: 50,837,398 (GRCm38) |
C1785* |
probably null |
Het |
| Tmem132b |
A |
G |
5: 125,622,925 (GRCm38) |
S176G |
probably damaging |
Het |
| Tnfrsf8 |
T |
C |
4: 145,303,105 (GRCm38) |
R42G |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,754,029 (GRCm38) |
D2124G |
possibly damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,216,117 (GRCm38) |
D1067E |
probably benign |
Het |
| Tspan13 |
T |
C |
12: 36,024,066 (GRCm38) |
S24G |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,304,903 (GRCm38) |
S814P |
possibly damaging |
Het |
| Zfp213 |
C |
A |
17: 23,561,399 (GRCm38) |
R49L |
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 |
|
R3830:Capn1
|
UTSW |
19 |
5,994,847 (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 |
|
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'- CCTCAAAGTCATAACGCTTCCTG -3'
(R):5'- GAGGTCTTGCAGCACATCTTC -3'
Sequencing Primer
(F):5'- TGTCCAAAGAGGTCCCCTTAG -3'
(R):5'- TGCAGCACATCTTCTCAGAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation