Mutagenetix > Incidental Mutation

Incidental Mutation 'R5569:Capn1'

435576

Institutional Source

Beutler Lab

Gene Symbol

Capn1

Ensembl Gene

ENSMUSG00000024942

Gene Name

calpain 1

Synonyms

Capa1, Capa-1, mu-calpin

MMRRC Submission

043126-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5569 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6038573-6065855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6063690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 129 (T129S)

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: T129S

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

SMART Domains

Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
AA Change: T129S

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: T129S

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

SMART Domains

Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
AA Change: T129S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,764,143 (GRCm39)	S929P	probably damaging	Het
Ackr3	A	G	1: 90,142,563 (GRCm39)	T341A	probably benign	Het
Acox3	A	G	5: 35,760,377 (GRCm39)	Y431C	probably damaging	Het
Adamtsl2	G	A	2: 26,992,845 (GRCm39)	V653M	probably damaging	Het
Anks6	T	C	4: 47,045,007 (GRCm39)	K300E	probably damaging	Het
Ap5z1	A	T	5: 142,460,206 (GRCm39)	D495V	probably damaging	Het
Atm	A	T	9: 53,427,750 (GRCm39)	Y453*	probably null	Het
Atpaf2	A	T	11: 60,307,706 (GRCm39)	W11R	probably damaging	Het
Bhmt1b	A	C	18: 87,775,392 (GRCm39)	Y305S	probably damaging	Het
Catspere2	A	T	1: 177,939,162 (GRCm39)	K678N	possibly damaging	Het
Cdh17	A	G	4: 11,816,990 (GRCm39)	I800M	probably damaging	Het
Cfap206	C	T	4: 34,724,892 (GRCm39)	R69Q	probably damaging	Het
Cp	T	C	3: 20,033,041 (GRCm39)	Y623H	probably damaging	Het
Dcaf5	A	T	12: 80,386,975 (GRCm39)	Y384N	probably damaging	Het
Dhx9	A	T	1: 153,342,838 (GRCm39)	C555S	possibly damaging	Het
Dlg2	A	G	7: 91,617,388 (GRCm39)	T317A	probably benign	Het
Dsp	C	T	13: 38,376,628 (GRCm39)	T1471I	probably benign	Het
Ebf1	A	G	11: 44,883,228 (GRCm39)	M489V	possibly damaging	Het
Enpp3	T	C	10: 24,654,719 (GRCm39)	D230G	probably damaging	Het
Eri3	T	C	4: 117,506,553 (GRCm39)	M294T	possibly damaging	Het
Fat1	T	A	8: 45,492,873 (GRCm39)	V3842E	probably damaging	Het
Fermt1	T	A	2: 132,757,123 (GRCm39)	Y569F	possibly damaging	Het
Fscn1	A	G	5: 142,946,799 (GRCm39)	D199G	probably benign	Het
Glce	A	G	9: 61,977,485 (GRCm39)	V133A	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hk1	A	G	10: 62,122,220 (GRCm39)	S520P	probably benign	Het
Ighv12-3	A	G	12: 114,330,555 (GRCm39)	V7A	probably benign	Het
Ighv6-7	C	A	12: 114,419,476 (GRCm39)	A43S	probably damaging	Het
Inf2	A	G	12: 112,568,113 (GRCm39)	I222V	possibly damaging	Het
Kmo	T	A	1: 175,482,688 (GRCm39)	N337K	probably benign	Het
Mcf2l	C	T	8: 13,055,481 (GRCm39)	R611W	probably damaging	Het
Mipep	A	T	14: 61,040,383 (GRCm39)	H301L	probably damaging	Het
Mprip	A	T	11: 59,651,789 (GRCm39)	E1831V	probably damaging	Het
Mrgpra3	T	C	7: 47,239,759 (GRCm39)	T56A	probably benign	Het
Mtmr14	G	A	6: 113,217,246 (GRCm39)	V53I	probably damaging	Het
Mycbp2	A	T	14: 103,372,679 (GRCm39)	W4056R	probably damaging	Het
Myl2	A	T	5: 122,244,783 (GRCm39)	D151V	possibly damaging	Het
Myo5c	A	T	9: 75,180,792 (GRCm39)	D727V	probably damaging	Het
Or10s1	A	G	9: 39,985,593 (GRCm39)	M1V	probably null	Het
Or1e22	A	T	11: 73,377,518 (GRCm39)	I44N	probably damaging	Het
Or2ag12	A	T	7: 106,277,690 (GRCm39)	M1K	probably null	Het
Or56b1b	T	A	7: 108,164,772 (GRCm39)	M77L	probably benign	Het
Or9s18	A	G	13: 65,300,793 (GRCm39)	T252A	possibly damaging	Het
Pabpc1l	C	T	2: 163,885,474 (GRCm39)	T409I	probably benign	Het
Pcgf1	C	T	6: 83,056,686 (GRCm39)	R81*	probably null	Het
Pcgf2	A	G	11: 97,583,193 (GRCm39)		probably null	Het
Phf14	T	A	6: 11,934,015 (GRCm39)	N292K	probably damaging	Het
Plin4	T	C	17: 56,409,147 (GRCm39)	T1358A	probably benign	Het
Pomgnt1	T	C	4: 116,013,164 (GRCm39)	S423P	probably damaging	Het
Prep	G	A	10: 44,973,533 (GRCm39)	V214I	probably benign	Het
Ptger1	T	C	8: 84,394,961 (GRCm39)		probably null	Het
Pus7	C	T	5: 23,953,832 (GRCm39)	G415D	probably benign	Het
Rbm44	C	T	1: 91,096,460 (GRCm39)	P940S	probably damaging	Het
Ripor1	A	T	8: 106,344,147 (GRCm39)	D427V	probably damaging	Het
Rp1	A	G	1: 4,415,460 (GRCm39)	I1884T	probably damaging	Het
Rpl15-ps6	T	C	15: 52,341,624 (GRCm39)		noncoding transcript	Het
Serinc2	T	C	4: 130,172,272 (GRCm39)	R7G	probably benign	Het
Serpina6	A	C	12: 103,620,719 (GRCm39)	F10C	possibly damaging	Het
Skint5	T	A	4: 113,545,903 (GRCm39)		probably null	Het
Slc66a3	T	A	12: 17,045,629 (GRCm39)	I114F	possibly damaging	Het
Slc6a4	A	T	11: 76,914,081 (GRCm39)	I544F	possibly damaging	Het
Spdye4b	T	C	5: 143,188,176 (GRCm39)	M223T	probably benign	Het
Tbc1d17	A	T	7: 44,497,755 (GRCm39)	V39D	probably damaging	Het
Thbs3	T	A	3: 89,126,770 (GRCm39)	Y295N	probably damaging	Het
Themis	G	A	10: 28,657,887 (GRCm39)	E152K	possibly damaging	Het
Tmem131	A	T	1: 36,838,419 (GRCm39)	I1502N	probably benign	Het
Tmem43	T	A	6: 91,454,336 (GRCm39)	M41K	probably benign	Het
Tmprss6	A	C	15: 78,324,503 (GRCm39)	W771G	probably damaging	Het
Trp53tg5	T	C	2: 164,313,256 (GRCm39)	T140A	probably benign	Het
Uchl1	A	G	5: 66,844,216 (GRCm39)	E206G	probably damaging	Het
Vash2	A	G	1: 190,692,488 (GRCm39)	V229A	possibly damaging	Het
Vmn1r192	C	A	13: 22,371,384 (GRCm39)	A279S	possibly damaging	Het
Vmn1r32	T	C	6: 66,530,156 (GRCm39)	R207G	probably damaging	Het
Vmn2r14	T	A	5: 109,368,261 (GRCm39)	M244L	probably benign	Het
Vwa5b2	T	A	16: 20,414,089 (GRCm39)	H236Q	probably damaging	Het
Zfp652	C	T	11: 95,640,116 (GRCm39)	P14S	probably benign	Het
Zfp668	G	A	7: 127,466,995 (GRCm39)	R194*	probably null	Het
Zgrf1	G	T	3: 127,354,674 (GRCm39)	V98L	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
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'- AGAGGCCAAATACCTTCCAGAG -3'
(R):5'- GCAGGTCCAGACAGGTTTTG -3'

Sequencing Primer
(F):5'- TTCCAGAGGGAGGGCTG -3'
(R):5'- CAGGTCCAGACAGGTTTTGACTATC -3'

Posted On

2016-10-24