Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Capn1'

460756

Institutional Source

Beutler Lab

Gene Symbol

Capn1

Ensembl Gene

ENSMUSG00000024942

Gene Name

calpain 1

Synonyms

Capa1, Capa-1, mu-calpin

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6038573-6065855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6047827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 412 (N412S)

Ref Sequence

ENSEMBL: ENSMUSP00000127498 (fasta)

Gene Model

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

AlphaFold

O35350

Predicted Effect

probably benign
Transcript: ENSMUST00000025891
AA Change: N412S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
AA Change: N412S

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 benign
Transcript: ENSMUST00000164843
AA Change: N412S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
AA Change: N412S

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,218,120 (GRCm39)	I206N	probably damaging	Het
Aadac	T	A	3: 59,947,248 (GRCm39)	D315E	probably damaging	Het
Abcc8	A	G	7: 45,773,330 (GRCm39)	F800L	probably benign	Het
Adamts16	C	A	13: 70,877,029 (GRCm39)	C1204F	probably damaging	Het
Adcy7	A	G	8: 89,038,856 (GRCm39)	T291A	possibly damaging	Het
AI182371	G	T	2: 34,976,134 (GRCm39)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,677,528 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,321,589 (GRCm39)	D266G	probably damaging	Het
Ank1	A	T	8: 23,630,220 (GRCm39)	E93D	probably damaging	Het
Bop1	T	C	15: 76,340,117 (GRCm39)	D153G	probably damaging	Het
Bub1	G	T	2: 127,661,142 (GRCm39)	N316K	probably benign	Het
Cdca4	A	G	12: 112,785,339 (GRCm39)	S130P	probably benign	Het
Cdh23	A	T	10: 60,264,158 (GRCm39)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,455,403 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,091,178 (GRCm39)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,646,579 (GRCm39)		probably benign	Het
Dnpep	C	T	1: 75,288,635 (GRCm39)		probably null	Het
Dop1b	A	T	16: 93,598,469 (GRCm39)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,622,120 (GRCm39)	D444N	probably damaging	Het
Emc9	C	T	14: 55,819,569 (GRCm39)		probably null	Het
Ero1b	T	A	13: 12,615,207 (GRCm39)	I346N	probably damaging	Het
Etv3	A	G	3: 87,442,850 (GRCm39)	T145A	probably benign	Het
Fam170a	T	A	18: 50,415,321 (GRCm39)		probably null	Het
Fap	A	T	2: 62,374,700 (GRCm39)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,178,409 (GRCm39)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,737,679 (GRCm39)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,724,070 (GRCm39)	H127L	unknown	Het
Gm8186	G	T	17: 26,318,130 (GRCm39)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,815,717 (GRCm39)	L370V	probably benign	Het
Hectd1	A	T	12: 51,845,537 (GRCm39)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,534,306 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,311,345 (GRCm39)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,852,577 (GRCm39)		probably null	Het
Itga4	C	T	2: 79,153,000 (GRCm39)	H896Y	probably benign	Het
Itga7	T	C	10: 128,778,850 (GRCm39)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,336,867 (GRCm39)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,142,884 (GRCm39)		probably null	Het
Klk15	A	G	7: 43,588,183 (GRCm39)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,669,704 (GRCm39)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,633,054 (GRCm39)		probably benign	Het
Laptm4b	A	G	15: 34,258,830 (GRCm39)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,341,379 (GRCm39)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,178,391 (GRCm39)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,502,876 (GRCm39)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,267,950 (GRCm39)		probably benign	Het
Nup133	A	G	8: 124,643,038 (GRCm39)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,963,326 (GRCm39)	V970D	probably damaging	Het
Or4c126	A	G	2: 89,824,301 (GRCm39)	H188R	probably benign	Het
Or6n1	T	C	1: 173,916,785 (GRCm39)	Y60H	probably benign	Het
Or8k24	A	T	2: 86,216,218 (GRCm39)	S181R	probably damaging	Het
Osbp	C	T	19: 11,951,240 (GRCm39)	L262F	probably damaging	Het
Phf8-ps	G	T	17: 33,285,124 (GRCm39)	D559E	probably benign	Het
Phldb2	G	T	16: 45,645,551 (GRCm39)	D343E	probably damaging	Het
Phrf1	T	A	7: 140,840,453 (GRCm39)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,935,462 (GRCm39)		probably null	Het
Plekhf1	A	T	7: 37,921,594 (GRCm39)		probably null	Het
Rars1	T	C	11: 35,719,475 (GRCm39)	N116D	probably damaging	Het
Rnf44	T	A	13: 54,830,621 (GRCm39)	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,321,319 (GRCm39)		probably null	Het
Scaf1	A	G	7: 44,663,016 (GRCm39)		probably benign	Het
Serpinb11	A	T	1: 107,299,919 (GRCm39)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,616,560 (GRCm39)	N174S	probably damaging	Het
Slc9a5	T	C	8: 106,083,807 (GRCm39)		probably null	Het
Slfn1	C	A	11: 83,012,002 (GRCm39)	N39K	possibly damaging	Het
Snx20	G	A	8: 89,353,923 (GRCm39)	A269V	possibly damaging	Het
Snx6	A	G	12: 54,801,104 (GRCm39)	Y298H	probably damaging	Het
Stk32c	C	T	7: 138,700,590 (GRCm39)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm39)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,978,498 (GRCm39)	F50I	probably damaging	Het
Ubl5	G	A	9: 20,557,830 (GRCm39)		probably benign	Het
Ubqln5	T	G	7: 103,777,781 (GRCm39)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,197,746 (GRCm39)	D22G	probably benign	Het
Vars1	A	G	17: 35,231,352 (GRCm39)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 20,032,715 (GRCm39)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,830 (GRCm39)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,298,487 (GRCm39)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,772,354 (GRCm39)		probably benign	Het
Zbtb2	A	T	10: 4,318,592 (GRCm39)	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,225,743 (GRCm39)	F17S	probably damaging	Het
Zfp219	T	A	14: 52,244,606 (GRCm39)		probably null	Het
Zfp629	G	A	7: 127,209,542 (GRCm39)	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,689,292 (GRCm39)	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,679,072 (GRCm39)	Y366N	probably benign	Het
Zp3	C	T	5: 136,017,377 (GRCm39)	T396I	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
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
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
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'- TTAGGAGCTCCTTCCTGCAC -3'
(R):5'- TCTTCTGACACTCACAGCGC -3'

Sequencing Primer
(F):5'- TTTCAGGCCCTCAGGATGCAC -3'
(R):5'- AGCGCGTCTGTAACCAC -3'

Posted On

2017-02-28