Mutagenetix > Incidental Mutation

Incidental Mutation 'R1496:Capn1'

168915

Institutional Source

Beutler Lab

Gene Symbol

Capn1

Ensembl Gene

ENSMUSG00000024942

Gene Name

calpain 1

Synonyms

mu-calpin, Capa1, Capa-1

MMRRC Submission

039547-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5988546-6015825 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 6007498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025891] [ENSMUST00000025891] [ENSMUST00000164843] [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: 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: 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

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

Meta Mutation Damage Score

0.9504

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

98% (94/96)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	G	9: 46,310,254		probably benign	Het
4933411K16Rik	T	C	19: 42,053,050	Y207H	probably damaging	Het
Abcc1	T	A	16: 14,448,434	L832Q	probably damaging	Het
Acan	T	A	7: 79,100,804	H1774Q	probably benign	Het
Adss	T	C	1: 177,772,194	T275A	probably benign	Het
Ano5	G	A	7: 51,583,775	R595H	probably damaging	Het
Araf	G	T	X: 20,859,704	R522L	probably damaging	Het
Arhgef28	C	T	13: 97,965,546	V807I	possibly damaging	Het
Bin1	T	C	18: 32,412,704	I103T	probably damaging	Het
C4b	C	T	17: 34,740,021	R478Q	probably benign	Het
Cacna1b	G	A	2: 24,678,035	P1015S	probably benign	Het
Cep290	A	G	10: 100,538,966	Q1358R	probably damaging	Het
Cfap126	T	C	1: 171,125,817		probably benign	Het
Chn1	T	C	2: 73,679,607		probably benign	Het
Cldn8	T	C	16: 88,562,401	E212G	probably benign	Het
Cpb1	T	C	3: 20,263,532	N249S	probably damaging	Het
Cxcr6	A	T	9: 123,810,347	I138F	probably benign	Het
Dab2ip	G	A	2: 35,718,791	R579H	probably damaging	Het
Dcaf8	T	C	1: 172,193,855	M538T	probably benign	Het
Dhrs4	T	G	14: 55,487,650	L201V	probably damaging	Het
Dnah12	C	T	14: 26,710,248	A407V	probably benign	Het
Elavl3	T	A	9: 22,026,165		probably benign	Het
Elp4	T	C	2: 105,832,161	H88R	probably benign	Het
Ercc3	T	C	18: 32,261,297		probably benign	Het
Eri1	A	G	8: 35,469,181	S329P	possibly damaging	Het
Erich2	A	T	2: 70,512,773		probably benign	Het
Esyt1	A	G	10: 128,512,428	S864P	possibly damaging	Het
Fam170b	A	G	14: 32,835,631	E141G	probably damaging	Het
Fat1	A	G	8: 45,033,390	Y3304C	probably damaging	Het
Fbn1	T	C	2: 125,309,495	T2531A	probably benign	Het
Fgfr3	T	C	5: 33,729,750	V166A	probably damaging	Het
Glt8d2	T	C	10: 82,659,538	D194G	probably damaging	Het
Gpr89	A	G	3: 96,905,210	I5T	probably benign	Het
Gpx6	A	T	13: 21,318,920	H168L	probably benign	Het
Gusb	T	C	5: 129,998,544	T307A	probably benign	Het
Hjurp	A	T	1: 88,275,050	Y71N	possibly damaging	Het
Ifngr1	A	G	10: 19,601,445	D118G	probably benign	Het
Ipcef1	A	T	10: 6,935,173		probably null	Het
Kbtbd3	A	T	9: 4,330,276	T217S	probably benign	Het
Kmt5a	GAA	GA	5: 124,459,885		probably null	Het
Lrp1	T	C	10: 127,539,011	D4526G	probably damaging	Het
Lrp1b	A	T	2: 42,323,662	V46D	probably damaging	Het
Lsm8	T	A	6: 18,849,659	M22K	probably benign	Het
Map1lc3b	C	T	8: 121,596,600	R70C	possibly damaging	Het
Meiob	T	A	17: 24,813,052	S14T	possibly damaging	Het
Mkx	G	T	18: 6,992,330	Y183*	probably null	Het
Mrs2	T	C	13: 25,005,034	Y99C	probably benign	Het
Mycbpap	T	C	11: 94,505,561	K151R	probably benign	Het
Neb	T	G	2: 52,328,734	Q88P	probably damaging	Het
Noc4l	T	A	5: 110,650,078	H319L	probably damaging	Het
Nt5c2	G	A	19: 46,904,978	T122I	probably damaging	Het
Nuggc	A	T	14: 65,624,133	N476I	probably damaging	Het
Obscn	T	A	11: 59,031,036	H5978L	probably benign	Het
Oc90	G	T	15: 65,876,521	A412D	probably damaging	Het
Olfr1080	A	T	2: 86,553,752	V124E	probably damaging	Het
Olfr1143	T	G	2: 87,802,868	S160A	probably benign	Het
Olfr1249	A	G	2: 89,630,014	S295P	possibly damaging	Het
Olfr168	T	A	16: 19,530,383	D179V	possibly damaging	Het
Olfr399	A	G	11: 74,053,824	*312Q	probably null	Het
Olfr8	T	A	10: 78,955,848	S214R	probably benign	Het
Pdzrn3	A	T	6: 101,150,969	V912E	probably benign	Het
Phactr1	T	A	13: 43,094,990	Y387N	probably damaging	Het
Picalm	T	A	7: 90,130,651	C27S	probably benign	Het
Pkd1l1	T	A	11: 8,941,077	I314F	possibly damaging	Het
Pold2	T	C	11: 5,874,175	E210G	possibly damaging	Het
Ptprz1	C	T	6: 23,049,524		probably benign	Het
Rac1	G	T	5: 143,507,338	A165E	probably damaging	Het
Rpap3	G	T	15: 97,686,483	T360K	possibly damaging	Het
Scn9a	G	A	2: 66,526,888	T1012I	probably benign	Het
Sdad1	A	G	5: 92,309,823	I20T	possibly damaging	Het
Setbp1	T	G	18: 78,859,912	K180T	probably damaging	Het
Sgpl1	T	C	10: 61,102,589	N475S	probably damaging	Het
Shroom3	T	C	5: 92,942,834	S1148P	possibly damaging	Het
Sin3a	T	A	9: 57,119,158	H1119Q	possibly damaging	Het
Slc26a7	T	A	4: 14,506,489	Y620F	probably benign	Het
Slc4a1	T	C	11: 102,361,171	I36V	probably benign	Het
Smarca2	C	G	19: 26,631,101	P263A	possibly damaging	Het
Sp100	T	C	1: 85,663,521		probably benign	Het
Spag6l	A	G	16: 16,780,614		probably benign	Het
Sptbn1	T	C	11: 30,121,498	N1491S	probably damaging	Het
Tbl1xr1	T	G	3: 22,190,951	V155G	possibly damaging	Het
Tmc1	A	G	19: 20,868,355	I168T	probably damaging	Het
Tmem87b	G	A	2: 128,826,393		probably null	Het
Tnfrsf9	T	A	4: 150,933,104		probably null	Het
Tnni3k	T	C	3: 154,939,658	D530G	probably damaging	Het
Vmn1r209	G	A	13: 22,805,764	S252F	probably damaging	Het
Zbtb3	A	T	19: 8,803,350	N109I	probably damaging	Het
Zdhhc17	T	G	10: 110,946,210	H541P	probably damaging	Het
Zfp84	A	G	7: 29,776,614	I244V	possibly damaging	Het
Zyx	A	G	6: 42,356,312	Y393C	probably damaging	Het

Other mutations in Capn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Capn1	APN	19	6007269	missense	probably damaging	1.00
IGL01314:Capn1	APN	19	5989984	splice site	probably benign
R0044:Capn1	UTSW	19	6014343	missense	probably benign	0.03
R1646:Capn1	UTSW	19	5997730	missense	probably benign
R1852:Capn1	UTSW	19	6009103	missense	possibly damaging	0.95
R1924:Capn1	UTSW	19	5990056	splice site	probably null
R2006:Capn1	UTSW	19	5991583	missense	probably damaging	1.00
R2109:Capn1	UTSW	19	6014358	missense	probably benign	0.01
R3704:Capn1	UTSW	19	6007371	missense	probably damaging	1.00
R3705:Capn1	UTSW	19	6007371	missense	probably damaging	1.00
R3830:Capn1	UTSW	19	5994847	missense	probably damaging	1.00
R4664:Capn1	UTSW	19	6011015	missense	probably benign	0.03
R4665:Capn1	UTSW	19	6011015	missense	probably benign	0.03
R4666:Capn1	UTSW	19	6011015	missense	probably benign	0.03
R4694:Capn1	UTSW	19	5994731	nonsense	probably null
R4745:Capn1	UTSW	19	5993916	missense	probably benign	0.12
R5103:Capn1	UTSW	19	6009110	missense	probably damaging	1.00
R5149:Capn1	UTSW	19	5990334	splice site	probably null
R5569:Capn1	UTSW	19	6013660	missense	probably benign
R5636:Capn1	UTSW	19	6014442	missense	probably benign	0.22
R5906:Capn1	UTSW	19	6011421	missense	possibly damaging	0.90
R5907:Capn1	UTSW	19	5997797	missense	probably benign
R7038:Capn1	UTSW	19	6014319	missense	probably benign	0.23
R7091:Capn1	UTSW	19	5991556	missense	possibly damaging	0.64
R7307:Capn1	UTSW	19	5993908	missense	possibly damaging	0.91
R7592:Capn1	UTSW	19	6014439	missense	probably benign	0.00
R7779:Capn1	UTSW	19	5994086	missense	probably benign
R8514:Capn1	UTSW	19	5997824	missense	probably damaging	0.98
R8708:Capn1	UTSW	19	6011298	missense	probably damaging	1.00
R9452:Capn1	UTSW	19	6007257	missense	probably damaging	1.00
Z1176:Capn1	UTSW	19	6014278	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGTCACCATTTGTGAGAGGGGAAG -3'
(R):5'- TCTGAAACACGCCAGGTTGGAC -3'

Sequencing Primer
(F):5'- CAGGTGCCCTCGTAAAATGTG -3'
(R):5'- TTGGACAGGACCCAGGGAC -3'

Posted On

2014-04-13