Mutagenetix > Incidental Mutation

Incidental Mutation 'R1484:Capns1'

163312

Institutional Source

Beutler Lab

Gene Symbol

Capns1

Ensembl Gene

ENSMUSG00000001794

Gene Name

calpain, small subunit 1

Synonyms

D7Ertd146e, Capa4, Capn4, Capa-4

MMRRC Submission

039537-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1484 (G1)

Quality Score

115

Status

Validated

Chromosome

Chromosomal Location

29886361-29898236 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 29893511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001845] [ENSMUST00000108196] [ENSMUST00000126116]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000001845
AA Change: M1L

SMART Domains

Protein: ENSMUSP00000001845
Gene: ENSMUSG00000001794
AA Change: M1L

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

SMART Domains

Protein: ENSMUSP00000103831
Gene: ENSMUSG00000001794

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

unknown
Transcript: ENSMUST00000126116
AA Change: M1L

SMART Domains

Protein: ENSMUSP00000117951
Gene: ENSMUSG00000001794
AA Change: M1L

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: ENSMUST00000181153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207082

Meta Mutation Damage Score

0.5324

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (85/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	T	5: 26,684,776 (GRCm39)		noncoding transcript	Het
Acvr1	A	T	2: 58,369,901 (GRCm39)	V36E	probably damaging	Het
Aldh4a1	A	G	4: 139,370,758 (GRCm39)	I414V	probably benign	Het
Alox5	C	T	6: 116,431,128 (GRCm39)	C100Y	probably damaging	Het
Ano5	T	A	7: 51,216,068 (GRCm39)	D348E	probably damaging	Het
Arhgap30	G	A	1: 171,230,839 (GRCm39)	V199M	probably damaging	Het
Arl13b	T	A	16: 62,626,999 (GRCm39)	Q234L	probably benign	Het
Atxn1	C	A	13: 45,711,052 (GRCm39)	E627*	probably null	Het
Bend3	T	C	10: 43,386,197 (GRCm39)	F197L	probably benign	Het
Brca1	A	T	11: 101,420,638 (GRCm39)	V190E	possibly damaging	Het
Brpf1	T	C	6: 113,292,096 (GRCm39)	W381R	probably damaging	Het
Brwd1	A	C	16: 95,829,491 (GRCm39)		probably null	Het
C1s2	T	C	6: 124,602,604 (GRCm39)	I530V	possibly damaging	Het
C2cd3	C	T	7: 100,089,397 (GRCm39)	R1638W	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cep126	G	A	9: 8,100,554 (GRCm39)	T660I	possibly damaging	Het
Cep295	A	C	9: 15,246,080 (GRCm39)	I744R	probably damaging	Het
Chd3	T	C	11: 69,250,725 (GRCm39)	E668G	probably benign	Het
Chek2	A	G	5: 110,996,553 (GRCm39)	T172A	probably damaging	Het
Col6a4	A	G	9: 105,890,501 (GRCm39)		probably null	Het
Coq3	G	A	4: 21,900,291 (GRCm39)	V173I	probably benign	Het
Cyp4x1	A	T	4: 114,970,098 (GRCm39)	I343N	probably damaging	Het
Dnah7b	T	A	1: 46,176,703 (GRCm39)	D774E	probably benign	Het
Dnai3	T	C	3: 145,802,996 (GRCm39)	D65G	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Esrra	T	C	19: 6,890,197 (GRCm39)	Y209C	probably damaging	Het
Gpr149	A	T	3: 62,502,592 (GRCm39)	D421E	probably benign	Het
Gpr15	T	C	16: 58,538,937 (GRCm39)	N51D	probably damaging	Het
Gpr156	T	C	16: 37,812,558 (GRCm39)	V298A	probably damaging	Het
Hmcn2	G	A	2: 31,236,507 (GRCm39)	G350D	probably damaging	Het
Ifih1	A	T	2: 62,440,902 (GRCm39)	N421K	probably benign	Het
Ilvbl	C	A	10: 78,412,564 (GRCm39)	T95K	probably damaging	Het
Itgb4	T	A	11: 115,890,625 (GRCm39)	D1104E	probably benign	Het
Katnip	C	A	7: 125,415,743 (GRCm39)		probably benign	Het
Lipf	A	T	19: 33,942,180 (GRCm39)	M37L	probably benign	Het
Lyst	T	A	13: 13,852,775 (GRCm39)	N2258K	probably benign	Het
Moxd1	A	G	10: 24,099,758 (GRCm39)	Y86C	probably damaging	Het
Muc5ac	T	C	7: 141,367,629 (GRCm39)		probably null	Het
Myo16	G	A	8: 10,610,145 (GRCm39)	R1162H	probably damaging	Het
Myo5c	A	T	9: 75,208,092 (GRCm39)	N1609Y	probably damaging	Het
Nbeal1	T	C	1: 60,240,098 (GRCm39)	F155L	probably damaging	Het
Nek4	A	T	14: 30,704,290 (GRCm39)	M602L	possibly damaging	Het
Nek9	A	G	12: 85,348,622 (GRCm39)	S971P	probably damaging	Het
Nfya	A	T	17: 48,700,570 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,547 (GRCm39)	N442I	probably damaging	Het
Nup42	A	C	5: 24,383,075 (GRCm39)	K200N	probably benign	Het
Or1e26	T	A	11: 73,480,187 (GRCm39)	I126L	possibly damaging	Het
Or4c111	G	A	2: 88,843,713 (GRCm39)	R232*	probably null	Het
Or7g32	G	A	9: 19,389,423 (GRCm39)	T38I	probably damaging	Het
Pcdh15	T	A	10: 74,126,833 (GRCm39)	I304N	probably damaging	Het
Pigo	G	C	4: 43,024,779 (GRCm39)	P107A	probably damaging	Het
Plce1	C	T	19: 38,693,783 (GRCm39)	Q769*	probably null	Het
Plin2	C	T	4: 86,575,481 (GRCm39)	R356H	probably benign	Het
Ppp1r9a	G	T	6: 5,113,712 (GRCm39)	E739*	probably null	Het
Ppp3cc	G	T	14: 70,478,397 (GRCm39)	N268K	probably damaging	Het
Prkag3	T	A	1: 74,779,919 (GRCm39)	D472V	probably damaging	Het
Ptch2	A	T	4: 116,968,046 (GRCm39)	D846V	probably damaging	Het
Rhob	A	T	12: 8,549,388 (GRCm39)	M82K	probably damaging	Het
Rps6kc1	T	A	1: 190,531,672 (GRCm39)	R777W	possibly damaging	Het
Sap130	T	A	18: 31,844,380 (GRCm39)	V850E	probably damaging	Het
Sema3a	T	G	5: 13,523,407 (GRCm39)	N125K	probably damaging	Het
Sema5a	A	G	15: 32,460,431 (GRCm39)	D64G	probably damaging	Het
Sgo2b	T	A	8: 64,384,507 (GRCm39)	D163V	possibly damaging	Het
Slc15a1	A	T	14: 121,728,651 (GRCm39)	Y31*	probably null	Het
Smchd1	A	T	17: 71,685,252 (GRCm39)	M1392K	probably benign	Het
Sobp	T	A	10: 43,036,827 (GRCm39)	N37I	probably damaging	Het
Spock3	G	T	8: 63,673,739 (GRCm39)	C142F	probably damaging	Het
Stx6	A	C	1: 155,053,650 (GRCm39)	S86R	probably benign	Het
Sult2a4	C	A	7: 13,643,726 (GRCm39)	M280I	probably benign	Het
Synm	A	T	7: 67,386,080 (GRCm39)	D527E	probably damaging	Het
Tax1bp1	C	T	6: 52,710,305 (GRCm39)	R195W	probably damaging	Het
Themis2	A	T	4: 132,519,796 (GRCm39)	N76K	possibly damaging	Het
Tmem8b	A	G	4: 43,690,234 (GRCm39)	T890A	probably benign	Het
Traf7	T	A	17: 24,730,785 (GRCm39)	H366L	possibly damaging	Het
Trim30c	A	T	7: 104,032,459 (GRCm39)	V289D	probably benign	Het
Tsr1	T	A	11: 74,792,914 (GRCm39)	D407E	probably damaging	Het
Ubap2	G	T	4: 41,235,593 (GRCm39)	A33E	probably damaging	Het
Unc13d	C	A	11: 115,964,701 (GRCm39)	R255L	possibly damaging	Het
Ush2a	G	T	1: 188,542,534 (GRCm39)	G3367*	probably null	Het
Vmn1r229	T	C	17: 21,034,791 (GRCm39)	L12P	probably damaging	Het
Vmn2r27	C	A	6: 124,177,474 (GRCm39)	G510V	probably damaging	Het
Vps4b	T	C	1: 106,707,712 (GRCm39)	E257G	probably damaging	Het
Vps72	T	C	3: 95,026,462 (GRCm39)	S136P	probably damaging	Het
Wdr36	T	C	18: 32,976,938 (GRCm39)	I181T	possibly damaging	Het
Wfikkn1	C	T	17: 26,096,765 (GRCm39)	A520T	probably benign	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
R2153:Capns1	UTSW	7	29,891,765 (GRCm39)	missense	probably damaging	1.00
R5111:Capns1	UTSW	7	29,891,944 (GRCm39)	missense	probably benign
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

PCR Primer
(F):5'- TTTCCGGTATGGATCAGCCCAGAC -3'
(R):5'- TTTTCCCGCTGCCTCAAGACAG -3'

Sequencing Primer
(F):5'- GAATTCTCAGGTCGGACTCTAAG -3'
(R):5'- acagggtaaagcaggcag -3'

Posted On

2014-03-28