Incidental Mutation 'R5111:Capns1'
| ID |
393856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Capns1
|
| Ensembl Gene |
ENSMUSG00000001794 |
| Gene Name |
calpain, small subunit 1 |
| Synonyms |
D7Ertd146e, Capa4, Capn4, Capa-4 |
| MMRRC Submission |
042699-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5111 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
29886361-29898236 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29891944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 106
(V106A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117951
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001845]
[ENSMUST00000108196]
[ENSMUST00000126116]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001845
AA Change: V106A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001845
Gene: ENSMUSG00000001794
AA Change: V106A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
64 |
N/A |
INTRINSIC |
|
EFh
|
143 |
171 |
3.93e0 |
SMART |
|
EFh
|
173 |
201 |
1.42e1 |
SMART |
|
EFh
|
238 |
265 |
6.09e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108196
AA Change: V38A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103831
Gene: ENSMUSG00000001794
AA Change: V38A
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
75 |
103 |
3.93e0 |
SMART |
|
EFh
|
105 |
133 |
1.42e1 |
SMART |
|
EFh
|
170 |
197 |
6.09e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126116
AA Change: V106A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117951
Gene: ENSMUSG00000001794
AA Change: V106A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
64 |
N/A |
INTRINSIC |
|
EFh
|
143 |
171 |
3.93e0 |
SMART |
|
EFh
|
173 |
201 |
1.42e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141851
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207082
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E11.5. Mutant embryos exhibit cardiac developmental defects, reduced yolk sac vasculature, hemorrhaging in the area between the embryo and amnion, and accumulation of nucleated erythroid cells in the heart chambers, blood vessels, and developing liver. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17c |
A |
T |
7: 83,800,646 (GRCm39) |
L136* |
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,390,858 (GRCm39) |
S2271T |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,982,408 (GRCm39) |
D179G |
probably benign |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,120,829 (GRCm39) |
M1K |
probably null |
Het |
| Ccnjl |
A |
G |
11: 43,447,544 (GRCm39) |
T76A |
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Col6a6 |
C |
T |
9: 105,586,673 (GRCm39) |
V1783I |
possibly damaging |
Het |
| Crisp3 |
T |
C |
17: 40,536,695 (GRCm39) |
T207A |
possibly damaging |
Het |
| Crxos |
G |
A |
7: 15,630,142 (GRCm39) |
|
probably benign |
Het |
| Csf3r |
T |
C |
4: 125,923,861 (GRCm39) |
|
probably null |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,046 (GRCm39) |
Y485C |
possibly damaging |
Het |
| Echdc2 |
A |
T |
4: 108,026,994 (GRCm39) |
|
probably benign |
Het |
| Elp3 |
A |
C |
14: 65,797,685 (GRCm39) |
Y329D |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,265,796 (GRCm39) |
D341G |
probably benign |
Het |
| H2-Ab1 |
T |
A |
17: 34,486,456 (GRCm39) |
S172T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,310 (GRCm39) |
V321A |
probably benign |
Het |
| Ighv6-3 |
A |
T |
12: 114,355,394 (GRCm39) |
S98R |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,037,155 (GRCm39) |
E153G |
possibly damaging |
Het |
| Klrb1c |
C |
T |
6: 128,762,968 (GRCm39) |
R83H |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,877,378 (GRCm39) |
K9E |
possibly damaging |
Het |
| Liph |
G |
A |
16: 21,802,820 (GRCm39) |
S83F |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,798,872 (GRCm39) |
I261T |
possibly damaging |
Het |
| Mdm2 |
A |
T |
10: 117,527,126 (GRCm39) |
V273D |
possibly damaging |
Het |
| Mterf1a |
A |
G |
5: 3,941,860 (GRCm39) |
S3P |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,437,678 (GRCm39) |
T172A |
probably benign |
Het |
| Nufip2 |
T |
A |
11: 77,582,669 (GRCm39) |
S194R |
probably benign |
Het |
| Nusap1 |
T |
A |
2: 119,460,837 (GRCm39) |
L110* |
probably null |
Het |
| Palb2 |
A |
T |
7: 121,716,528 (GRCm39) |
C488* |
probably null |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,558 (GRCm39) |
N457I |
probably damaging |
Het |
| Per1 |
A |
T |
11: 68,991,612 (GRCm39) |
S49C |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,558 (GRCm39) |
I535N |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,284,858 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,601,728 (GRCm39) |
L744Q |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,113,600 (GRCm39) |
E1549G |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,713,798 (GRCm39) |
T742I |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,868 (GRCm39) |
H1229Q |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,567,154 (GRCm39) |
H920R |
possibly damaging |
Het |
| Urb1 |
A |
C |
16: 90,548,905 (GRCm39) |
S2268A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,968,157 (GRCm39) |
Y169N |
possibly damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,485,913 (GRCm39) |
M527K |
possibly damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,326 (GRCm39) |
I733F |
probably damaging |
Het |
| Vstm2l |
A |
G |
2: 157,777,389 (GRCm39) |
D89G |
probably damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,044,612 (GRCm39) |
Q303K |
probably benign |
Het |
| Zfand2a |
A |
G |
5: 139,459,509 (GRCm39) |
V159A |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,865,170 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Capns1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Capns1
|
APN |
7 |
29,889,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01128:Capns1
|
APN |
7 |
29,889,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02175:Capns1
|
APN |
7 |
29,889,957 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02966:Capns1
|
APN |
7 |
29,891,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Capns1
|
UTSW |
7 |
29,891,644 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0578:Capns1
|
UTSW |
7 |
29,893,453 (GRCm39) |
unclassified |
probably benign |
|
|
R1484:Capns1
|
UTSW |
7 |
29,893,511 (GRCm39) |
unclassified |
probably benign |
|
|
R2153:Capns1
|
UTSW |
7 |
29,891,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5323:Capns1
|
UTSW |
7 |
29,887,147 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5350:Capns1
|
UTSW |
7 |
29,889,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6684:Capns1
|
UTSW |
7 |
29,893,324 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7573:Capns1
|
UTSW |
7 |
29,891,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7611:Capns1
|
UTSW |
7 |
29,889,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Capns1
|
UTSW |
7 |
29,889,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Capns1
|
UTSW |
7 |
29,893,510 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9115:Capns1
|
UTSW |
7 |
29,889,978 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9526:Capns1
|
UTSW |
7 |
29,891,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2016-06-15 |
Incidental Mutation