Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Capn1'

550241

Institutional Source

Beutler Lab

Gene Symbol

Capn1

Ensembl Gene

ENSMUSG00000024942

Gene Name

calpain 1

Synonyms

mu-calpin, Capa1, Capa-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7091 (G1)

Quality Score

191.009

Status

Validated

Chromosome

Chromosomal Location

5988546-6015825 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5991556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 641 (M641T)

Ref Sequence

ENSEMBL: ENSMUSP00000025891 (fasta)

Gene Model

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

AlphaFold

O35350

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025891
AA Change: M641T

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
AA Change: M641T

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

possibly damaging
Transcript: ENSMUST00000164843
AA Change: M641T

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
AA Change: M641T

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

0.1331

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	C	A	7: 127,384,362	A523S	possibly damaging	Het
Abhd18	A	C	3: 40,916,738	I111L	probably damaging	Het
Ank1	A	G	8: 23,058,663	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692	K205E	probably benign	Het
Brca1	T	A	11: 101,526,427	M294L	probably benign	Het
Cluap1	T	A	16: 3,940,806	D377E	probably benign	Het
Col6a2	C	T	10: 76,615,091	V39I	unknown	Het
Crybg3	T	A	16: 59,557,168	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,816,142	K3380R	probably benign	Het
Eml5	T	C	12: 98,802,474	I1400M	probably benign	Het
Fancd2	A	G	6: 113,545,101	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676	S1973G	probably benign	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
G3bp1	T	A	11: 55,496,221	H271Q	possibly damaging	Het
Glce	A	G	9: 62,060,588	V427A	probably damaging	Het
Gm4778	T	C	3: 94,266,638	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875	F746L	unknown	Het
Ivl	T	C	3: 92,572,242	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,630,184	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728	L206M	probably damaging	Het
Msln	A	T	17: 25,750,080	C444S	probably damaging	Het
Mta1	A	G	12: 113,136,402	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Naa15	T	C	3: 51,458,756		probably null	Het
Nadk	A	G	4: 155,587,758	H302R	probably benign	Het
Neb	T	A	2: 52,256,112	N15I		Het
Nup153	A	T	13: 46,683,928	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191		probably null	Het
Tdp2	T	A	13: 24,838,224	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512		probably benign	Het
Tmprss4	A	T	9: 45,184,273	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568	T33025S	probably benign	Het
Tut1	A	G	19: 8,965,811	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,223,945	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395	H278L	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
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
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
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'- TGAAAAGGCCCTTGTTCTTGG -3'
(R):5'- CAACAGAGCTTCCTTTCCGC -3'

Sequencing Primer
(F):5'- AAAAGGCCCTTGTTCTTGGTAAGC -3'
(R):5'- AGAGCTTCCTTTCCGCATGTG -3'

Posted On

2019-05-15