Mutagenetix > Incidental Mutation

Incidental Mutation 'R2109:Capn1'

232426

Institutional Source

Beutler Lab

Gene Symbol

Capn1

Ensembl Gene

ENSMUSG00000024942

Gene Name

calpain 1

Synonyms

mu-calpin, Capa1, Capa-1

MMRRC Submission

040113-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2109 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5988546-6015825 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6014358 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 37 (Y37F)

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: Y37F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
AA Change: Y37F

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: Y37F

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
AA Change: Y37F

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	T	9: 94,524,445	I303N	probably damaging	Het
1700001C02Rik	G	A	5: 30,480,507	G66E	probably damaging	Het
2410002F23Rik	G	T	7: 44,251,011	R113S	probably benign	Het
Ackr2	A	T	9: 121,908,960	I134F	probably damaging	Het
Actr3b	T	A	5: 25,831,711	I174N	possibly damaging	Het
Akap9	T	A	5: 4,044,847	S2214T	possibly damaging	Het
Arhgef12	C	A	9: 42,979,472	R986L	possibly damaging	Het
BC049762	T	A	11: 51,254,437	I108F	possibly damaging	Het
Brap	G	T	5: 121,663,359	S59I	possibly damaging	Het
Btnl1	C	T	17: 34,379,604	H65Y	probably damaging	Het
C1s2	T	C	6: 124,635,045	T121A	probably damaging	Het
Ccdc39	T	C	3: 33,815,501	K726E	probably damaging	Het
Cd300lb	G	A	11: 114,926,039	S195F	probably damaging	Het
Cenpf	T	C	1: 189,679,067	K307E	probably damaging	Het
Chodl	A	C	16: 78,941,363	N73T	possibly damaging	Het
Crnn	A	T	3: 93,148,440	M178L	probably benign	Het
Cyp4a12b	A	G	4: 115,432,913	D221G	probably damaging	Het
D10Wsu102e	C	T	10: 83,365,792	S143L	probably damaging	Het
Dmxl2	A	G	9: 54,393,813	V2338A	probably benign	Het
Dnah9	G	T	11: 66,037,585	P2086Q	probably damaging	Het
Dsg2	A	G	18: 20,592,289	I486V	probably benign	Het
E2f8	A	G	7: 48,875,107	S265P	probably damaging	Het
Eif1b	A	G	9: 120,494,230	D52G	probably benign	Het
Etl4	A	T	2: 20,785,342	T602S	probably benign	Het
Exoc3l2	A	T	7: 19,489,134		probably benign	Het
Fbxl6	C	A	15: 76,536,973	V297F	probably damaging	Het
Fgr	T	A	4: 132,998,475	N398K	probably benign	Het
G3bp1	A	G	11: 55,489,160	R107G	probably damaging	Het
Gp2	A	T	7: 119,452,932	N186K	probably benign	Het
Hbs1l	T	A	10: 21,341,932	L249*	probably null	Het
Hmgcs2	T	A	3: 98,297,021	L246*	probably null	Het
Hsp90ab1	G	T	17: 45,569,328	H96Q	probably benign	Het
Ibtk	C	T	9: 85,706,550	V1078I	probably benign	Het
Ltn1	T	C	16: 87,415,642	D677G	probably benign	Het
Lyst	C	T	13: 13,712,820	T3078I	possibly damaging	Het
Mamdc4	A	G	2: 25,569,390	F199S	probably damaging	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mki67	G	A	7: 135,697,863	T1814I	probably damaging	Het
Mttp	A	T	3: 138,095,002	F766I	probably benign	Het
Nbl1	T	A	4: 139,083,604		probably null	Het
Nmrk1	T	A	19: 18,641,438	L118Q	probably damaging	Het
Olfr1381	T	G	11: 49,552,433	S229A	probably damaging	Het
Oog3	A	T	4: 144,159,512	L172H	probably damaging	Het
Osbpl1a	T	G	18: 12,759,400	Q332P	probably damaging	Het
Pik3cg	A	G	12: 32,193,710	F921L	possibly damaging	Het
Plch2	T	C	4: 154,984,597	S1086G	possibly damaging	Het
Plekha5	A	G	6: 140,424,216	T18A	possibly damaging	Het
Pogz	T	A	3: 94,878,965	S955T	probably benign	Het
Pot1b	A	T	17: 55,653,413	I639N	probably benign	Het
Prkdc	T	C	16: 15,687,390	I852T	probably benign	Het
Prps1l1	A	G	12: 34,985,522	K212R	probably benign	Het
Ptpn5	A	G	7: 47,086,059	Y304H	probably damaging	Het
Ralgapa1	A	G	12: 55,776,188	I281T	possibly damaging	Het
Rgs22	A	T	15: 36,099,734	Y278*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf213	T	A	11: 119,442,663	Y2899*	probably null	Het
Rttn	C	T	18: 88,986,073	T397I	possibly damaging	Het
Sacs	G	T	14: 61,173,453		probably null	Het
Sbf2	G	T	7: 110,461,212	Q182K	probably damaging	Het
Sec14l5	C	T	16: 5,167,104	R105*	probably null	Het
Sh2b1	A	T	7: 126,472,364	D216E	possibly damaging	Het
Sh3gl3	A	G	7: 82,270,800	N72S	possibly damaging	Het
Slc12a1	A	T	2: 125,173,699	I391F	probably damaging	Het
Slc36a2	G	A	11: 55,181,555	A77V	probably damaging	Het
Smc2	A	T	4: 52,474,987	I888L	probably benign	Het
Smoc1	C	T	12: 81,150,676	T194M	probably damaging	Het
Sorcs1	C	T	19: 50,678,192	G93R	probably benign	Het
Sox30	T	G	11: 45,991,768	F542V	probably damaging	Het
Svep1	A	G	4: 58,206,030	V116A	possibly damaging	Het
Synj2	A	G	17: 6,013,691	D330G	probably benign	Het
Tenm3	A	C	8: 48,343,349	S202A	possibly damaging	Het
Tg	C	T	15: 66,729,594	T151I	probably benign	Het
Tnfaip2	A	G	12: 111,448,093	E361G	probably damaging	Het
Tnk1	A	T	11: 69,855,183	D305E	probably damaging	Het
Tpp1	A	G	7: 105,749,970	L133P	probably damaging	Het
Trappc1	T	A	11: 69,324,417	M41K	probably damaging	Het
Tsen54	A	G	11: 115,815,723	D9G	probably damaging	Het
Ttn	T	A	2: 76,974,254	I225F	probably damaging	Het
Ube4b	T	C	4: 149,372,841	K313R	probably benign	Het
Vps50	T	C	6: 3,555,379	V425A	probably damaging	Het
Wbp2	A	T	11: 116,080,619	Y153*	probably null	Het
Xrn1	A	G	9: 95,979,220	S478G	probably benign	Het
Zfp354c	T	C	11: 50,817,142	E77G	probably benign	Het
Zfp462	T	C	4: 55,008,496	M154T	probably benign	Het
Zfp704	A	G	3: 9,474,525	V255A	probably damaging	Het
Zfp763	G	T	17: 33,019,778	A131E	probably benign	Het
Zfp931	A	T	2: 178,069,858	V32E	probably null	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
R1496:Capn1	UTSW	19	6007498	critical splice donor site	probably null
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
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'- ACCAAGTTCCACCCAGAGTG -3'
(R):5'- GAGCAGTGACCCATGTTTGG -3'

Sequencing Primer
(F):5'- AGTGGCCCTCTTACCGTAG -3'
(R):5'- GTCCAGGAGAATGTCGGC -3'

Posted On

2014-09-18