Incidental Mutation 'R3704:Capn1'
| ID |
258679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capn1
|
| Ensembl Gene |
ENSMUSG00000024942 |
| Gene Name |
calpain 1 |
| Synonyms |
Capa1, Capa-1, mu-calpin |
| MMRRC Submission |
040697-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3704 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6038573-6065855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6057401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 349
(E349G)
|
| 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: E349G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
AA Change: E349G
| 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: E349G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
AA Change: E349G
| 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 |
|
| Meta Mutation Damage Score |
0.9145 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 91.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,316,298 (GRCm39) |
C585R |
probably damaging |
Het |
| Akr1b10 |
G |
T |
6: 34,371,689 (GRCm39) |
D285Y |
probably damaging |
Het |
| Akr1b10 |
A |
G |
6: 34,371,690 (GRCm39) |
D257G |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,391,828 (GRCm39) |
N1838K |
possibly damaging |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
| Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
| Cd27 |
C |
T |
6: 125,210,361 (GRCm39) |
C222Y |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,583,912 (GRCm39) |
T584K |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,703,608 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,842,156 (GRCm39) |
T443A |
probably damaging |
Het |
| Crisp3 |
A |
G |
17: 40,546,848 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
| Eci2 |
A |
G |
13: 35,177,216 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
C |
11: 55,200,476 (GRCm39) |
F866C |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,543,841 (GRCm39) |
G269C |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ifi35 |
G |
A |
11: 101,339,430 (GRCm39) |
M1I |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,055,831 (GRCm39) |
T308A |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,893,588 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,461,706 (GRCm39) |
T819M |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
| Mill1 |
A |
G |
7: 17,996,978 (GRCm39) |
T190A |
possibly damaging |
Het |
| Mosmo |
A |
G |
7: 120,329,828 (GRCm39) |
I150V |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,377,904 (GRCm39) |
D566Y |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
| Or8b101 |
T |
A |
9: 38,020,299 (GRCm39) |
F106I |
possibly damaging |
Het |
| Paip2 |
A |
G |
18: 35,743,974 (GRCm39) |
T9A |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,572,668 (GRCm39) |
S318P |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,277 (GRCm39) |
I145V |
possibly damaging |
Het |
| Prl2c2 |
C |
T |
13: 13,176,810 (GRCm39) |
R37H |
probably damaging |
Het |
| Raet1e |
A |
G |
10: 22,056,744 (GRCm39) |
T107A |
probably benign |
Het |
| Reps1 |
T |
G |
10: 17,983,428 (GRCm39) |
F424V |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,993,669 (GRCm39) |
V401D |
possibly damaging |
Het |
| Srgn |
T |
C |
10: 62,333,609 (GRCm39) |
D56G |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,662,124 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,846 (GRCm39) |
F340L |
possibly damaging |
Het |
| Xirp1 |
T |
A |
9: 120,016,907 (GRCm38) |
Q970L |
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
| Zmat4 |
A |
G |
8: 24,287,430 (GRCm39) |
R59G |
probably benign |
Het |
|
| Other mutations in Capn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00582:Capn1
|
APN |
19 |
6,057,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01314:Capn1
|
APN |
19 |
6,040,014 (GRCm39) |
splice site |
probably benign |
|
|
R0044:Capn1
|
UTSW |
19 |
6,064,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1496:Capn1
|
UTSW |
19 |
6,057,528 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1646:Capn1
|
UTSW |
19 |
6,047,760 (GRCm39) |
missense |
probably benign |
|
|
R1852:Capn1
|
UTSW |
19 |
6,059,133 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1924:Capn1
|
UTSW |
19 |
6,040,086 (GRCm39) |
splice site |
probably null |
|
|
R2006:Capn1
|
UTSW |
19 |
6,041,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2109:Capn1
|
UTSW |
19 |
6,064,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3705:Capn1
|
UTSW |
19 |
6,057,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3830:Capn1
|
UTSW |
19 |
6,044,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Capn1
|
UTSW |
19 |
6,061,045 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4665:Capn1
|
UTSW |
19 |
6,061,045 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4666:Capn1
|
UTSW |
19 |
6,061,045 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4694:Capn1
|
UTSW |
19 |
6,044,761 (GRCm39) |
nonsense |
probably null |
|
|
R4745:Capn1
|
UTSW |
19 |
6,043,946 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5103:Capn1
|
UTSW |
19 |
6,059,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5149:Capn1
|
UTSW |
19 |
6,040,364 (GRCm39) |
splice site |
probably null |
|
|
R5569:Capn1
|
UTSW |
19 |
6,063,690 (GRCm39) |
missense |
probably benign |
|
|
R5636:Capn1
|
UTSW |
19 |
6,064,472 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5906:Capn1
|
UTSW |
19 |
6,061,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5907:Capn1
|
UTSW |
19 |
6,047,827 (GRCm39) |
missense |
probably benign |
|
|
R7038:Capn1
|
UTSW |
19 |
6,064,349 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7091:Capn1
|
UTSW |
19 |
6,041,586 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7307:Capn1
|
UTSW |
19 |
6,043,938 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7592:Capn1
|
UTSW |
19 |
6,064,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7779:Capn1
|
UTSW |
19 |
6,044,116 (GRCm39) |
missense |
probably benign |
|
|
R8514:Capn1
|
UTSW |
19 |
6,047,854 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8708:Capn1
|
UTSW |
19 |
6,061,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Capn1
|
UTSW |
19 |
6,057,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Capn1
|
UTSW |
19 |
6,064,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCATGACTATTTGTCTCCCAAGG -3'
(R):5'- AGTGGAACAAAGTGGACCCC -3'
Sequencing Primer
(F):5'- TGACTATTTGTCTCCCAAGGAACAC -3'
(R):5'- CCCTATGAACGAGAGCAGCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation