Mutagenetix > Incidental Mutation

Incidental Mutation 'R5103:Capn1'

392522

Institutional Source

Beutler Lab

Gene Symbol

Capn1

Ensembl Gene

ENSMUSG00000024942

Gene Name

calpain 1

Synonyms

Capa1, Capa-1, mu-calpin

MMRRC Submission

042691-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5103 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6038573-6065855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6059140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 274 (Y274H)

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: Y274H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
AA Change: Y274H

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: Y274H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
AA Change: Y274H

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

noncoding transcript
Transcript: ENSMUST00000180505

Meta Mutation Damage Score

0.9651

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

99% (82/83)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	G	A	5: 31,051,345 (GRCm39)	R518H	probably damaging	Het
Agfg1	T	C	1: 82,871,288 (GRCm39)	S486P	probably damaging	Het
Arhgap18	A	G	10: 26,745,978 (GRCm39)	D283G	probably damaging	Het
Asb1	A	G	1: 91,480,066 (GRCm39)	N162S	possibly damaging	Het
Cdk5	A	T	5: 24,627,833 (GRCm39)	V30E	probably damaging	Het
Cep290	T	G	10: 100,374,882 (GRCm39)	L1376W	probably damaging	Het
Crybg1	T	A	10: 43,873,944 (GRCm39)	T1055S	probably damaging	Het
Cyp2c70	A	G	19: 40,149,076 (GRCm39)	Y357H	probably damaging	Het
Dlx6	AGG	AG	6: 6,865,180 (GRCm39)		probably null	Het
Eml6	T	A	11: 29,800,905 (GRCm39)	E367V	possibly damaging	Het
Emp1	A	G	6: 135,358,073 (GRCm39)	T140A	probably benign	Het
Ergic3	T	C	2: 155,850,545 (GRCm39)	V74A	probably benign	Het
Fancm	A	T	12: 65,152,632 (GRCm39)	L1029F	probably damaging	Het
Fank1	C	A	7: 133,478,570 (GRCm39)	C210*	probably null	Het
Fbxo31	T	C	8: 122,279,101 (GRCm39)	D462G	probably damaging	Het
Frem1	G	A	4: 82,909,849 (GRCm39)	A736V	probably benign	Het
Fshr	T	C	17: 89,404,796 (GRCm39)	T56A	possibly damaging	Het
Gm5901	A	T	7: 105,026,589 (GRCm39)		probably null	Het
Golga2	A	G	2: 32,193,758 (GRCm39)	E458G	probably benign	Het
Grik2	T	A	10: 49,372,205 (GRCm39)	I335F	probably benign	Het
Grin1	T	A	2: 25,200,433 (GRCm39)	M230L	probably benign	Het
Gtf2f1	C	T	17: 57,311,519 (GRCm39)	G297D	probably damaging	Het
H2-T5	T	C	17: 36,472,577 (GRCm39)		probably benign	Het
Hacd1	T	C	2: 14,045,724 (GRCm39)	T136A	probably damaging	Het
Hdac5	T	A	11: 102,087,109 (GRCm39)	S24C	probably damaging	Het
Jtb	T	C	3: 90,139,394 (GRCm39)		probably benign	Het
Kif1a	C	T	1: 92,974,418 (GRCm39)	G979E	probably damaging	Het
Mark2	T	C	19: 7,261,868 (GRCm39)	M345V	probably damaging	Het
Mfsd14b	A	G	13: 65,234,907 (GRCm39)	V90A	possibly damaging	Het
Micu1	T	C	10: 59,624,806 (GRCm39)	Y283H	possibly damaging	Het
Mmp2	C	T	8: 93,558,413 (GRCm39)	R161*	probably null	Het
Mrpl2	G	A	17: 46,960,964 (GRCm39)	R286Q	probably benign	Het
Msh5	T	C	17: 35,248,215 (GRCm39)	I783V	possibly damaging	Het
Myo3b	T	A	2: 69,926,747 (GRCm39)	F65I	probably benign	Het
Nat10	C	A	2: 103,587,605 (GRCm39)	V37L	probably damaging	Het
Nlrp1a	T	A	11: 70,990,352 (GRCm39)	T967S	probably damaging	Het
Nolc1	A	T	19: 46,070,103 (GRCm39)	K291*	probably null	Het
Or1j18	A	T	2: 36,624,680 (GRCm39)	T116S	probably benign	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or8d2b	G	T	9: 38,788,872 (GRCm39)	M133I	probably damaging	Het
Or8u8	C	A	2: 86,011,960 (GRCm39)	R165L	probably benign	Het
Paip1	A	G	13: 119,574,515 (GRCm39)	E70G	possibly damaging	Het
Palmd	T	A	3: 116,721,070 (GRCm39)	E127V	probably damaging	Het
Paqr6	T	A	3: 88,275,024 (GRCm39)	C262*	probably null	Het
Pdcd11	A	G	19: 47,112,893 (GRCm39)	H1301R	probably benign	Het
Plce1	C	A	19: 38,755,659 (GRCm39)	D1896E	probably damaging	Het
Ppib	A	G	9: 65,968,747 (GRCm39)		probably null	Het
Pzp	C	T	6: 128,479,192 (GRCm39)	V654M	probably benign	Het
Rab26	T	C	17: 24,753,071 (GRCm39)		probably benign	Het
Recql4	A	G	15: 76,590,956 (GRCm39)	L468P	probably damaging	Het
Retreg1	C	T	15: 25,968,540 (GRCm39)	Q65*	probably null	Het
Rhpn1	C	T	15: 75,586,064 (GRCm39)	T659I	possibly damaging	Het
Rmc1	A	G	18: 12,322,319 (GRCm39)	I591V	probably benign	Het
Slc12a5	C	A	2: 164,834,353 (GRCm39)	H791Q	probably damaging	Het
Slc40a1	G	A	1: 45,958,155 (GRCm39)	Q93*	probably null	Het
Slc4a1	T	C	11: 102,244,087 (GRCm39)	M681V	possibly damaging	Het
Slc6a9	T	A	4: 117,725,352 (GRCm39)	F493L	probably benign	Het
Smc2	A	G	4: 52,459,033 (GRCm39)	E476G	probably damaging	Het
Smco4	G	T	9: 15,456,090 (GRCm39)	E59*	probably null	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Stat4	T	A	1: 52,111,054 (GRCm39)	L167Q	probably damaging	Het
Sult1e1	C	A	5: 87,724,091 (GRCm39)	V289L	probably benign	Het
Tbc1d4	C	A	14: 101,696,318 (GRCm39)	E877*	probably null	Het
Tenm4	A	T	7: 96,492,164 (GRCm39)	I1033F	probably damaging	Het
Tppp2	T	A	14: 52,156,909 (GRCm39)	F95L	probably benign	Het
Trappc14	A	G	5: 138,260,562 (GRCm39)	V288A	probably benign	Het
Vmn2r41	G	A	7: 8,141,341 (GRCm39)	L708F	probably benign	Het
Washc5	G	A	15: 59,222,018 (GRCm39)	P126L	probably damaging	Het
Xkr4	T	C	1: 3,740,911 (GRCm39)	I221V	probably benign	Het
Xkr5	T	C	8: 18,983,659 (GRCm39)	R628G	probably benign	Het
Zfp207	T	C	11: 80,282,736 (GRCm39)	L233P	probably damaging	Het
Zfp827	T	A	8: 79,797,032 (GRCm39)	C373S	probably damaging	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
R3704:Capn1	UTSW	19	6,057,401 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGAACTGGAGGCACTAGGC -3'
(R):5'- AAGGAACGGCATTTGTGTAAC -3'

Sequencing Primer
(F):5'- GCACTAGGCATAGCATTAACAC -3'
(R):5'- ACGGCATTTGTGTAACAATGG -3'

Posted On

2016-06-15