Mutagenetix > Incidental Mutation

Incidental Mutation 'R8514:Capn1'

656058

Institutional Source

Beutler Lab

Gene Symbol

Capn1

Ensembl Gene

ENSMUSG00000024942

Gene Name

calpain 1

Synonyms

Capa1, Capa-1, mu-calpin

MMRRC Submission

067945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8514 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6038573-6065855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6047854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 403 (E403G)

Ref Sequence

ENSEMBL: ENSMUSP00000025891 (fasta)

Gene Model

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

AlphaFold

O35350

Predicted Effect

probably damaging
Transcript: ENSMUST00000025891
AA Change: E403G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
AA Change: E403G

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 damaging
Transcript: ENSMUST00000164843
AA Change: E403G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
AA Change: E403G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (49/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcam	A	G	7: 19,492,466 (GRCm39)	V543A	probably damaging	Het
Calhm6	G	A	10: 34,002,399 (GRCm39)	T228I	possibly damaging	Het
Casp12	T	C	9: 5,352,735 (GRCm39)	F186L	probably damaging	Het
Ccdc40	A	G	11: 119,121,459 (GRCm39)	Q13R	unknown	Het
Cip2a	T	C	16: 48,817,810 (GRCm39)	V60A	possibly damaging	Het
Ckap2l	G	T	2: 129,127,788 (GRCm39)	A130E	possibly damaging	Het
Creld1	C	T	6: 113,469,830 (GRCm39)	R411C	probably damaging	Het
Dock9	A	T	14: 121,896,199 (GRCm39)	S167T	probably benign	Het
Emc10	G	T	7: 44,142,646 (GRCm39)	Q99K	probably damaging	Het
Fryl	T	A	5: 73,242,699 (GRCm39)	I1287L	probably benign	Het
Gjc3	T	A	5: 137,955,772 (GRCm39)	Y171F	probably damaging	Het
Glrp1	GTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTG	1: 88,431,042 (GRCm39)		probably benign	Het
Golga4	T	C	9: 118,384,864 (GRCm39)	V662A	possibly damaging	Het
Gpr33	A	G	12: 52,070,181 (GRCm39)	V286A	probably benign	Het
Htr1d	A	G	4: 136,170,650 (GRCm39)	E293G	probably damaging	Het
Ints6	A	G	14: 62,933,166 (GRCm39)	V847A	possibly damaging	Het
Iqsec3	A	G	6: 121,390,521 (GRCm39)	C317R	unknown	Het
Mdn1	T	A	4: 32,739,857 (GRCm39)	Y3704N	probably damaging	Het
Micall2	C	A	5: 139,701,977 (GRCm39)	R422L	probably damaging	Het
Mndal	T	C	1: 173,687,758 (GRCm39)	D492G	possibly damaging	Het
Myom2	C	T	8: 15,175,153 (GRCm39)	P1244L	possibly damaging	Het
Notch1	A	G	2: 26,362,181 (GRCm39)	C1025R	probably damaging	Het
Nthl1	G	A	17: 24,853,089 (GRCm39)	V98M	probably damaging	Het
Or12e10	A	T	2: 87,641,054 (GRCm39)	I297F	probably damaging	Het
Or4a15	T	C	2: 89,193,573 (GRCm39)	I67V	probably benign	Het
Pank3	A	G	11: 35,667,186 (GRCm39)	D101G	probably null	Het
Phtf2	T	C	5: 21,007,030 (GRCm39)	R178G	possibly damaging	Het
Pitrm1	T	C	13: 6,618,822 (GRCm39)		probably null	Het
Platr25	T	C	13: 62,848,586 (GRCm39)	Y92C	probably damaging	Het
Plpp1	A	T	13: 112,971,462 (GRCm39)	D43V	probably damaging	Het
Prg4	G	A	1: 150,330,396 (GRCm39)	T759I	unknown	Het
Pros1	A	G	16: 62,730,472 (GRCm39)	T321A	probably benign	Het
Rad50	G	A	11: 53,569,766 (GRCm39)	Q882*	probably null	Het
Rasa3	A	C	8: 13,631,322 (GRCm39)	F533V	probably benign	Het
Rgs18	T	A	1: 144,629,765 (GRCm39)	I165F	probably damaging	Het
Rtl1	C	T	12: 109,560,307 (GRCm39)	V511I	possibly damaging	Het
Sdc3	A	G	4: 130,546,072 (GRCm39)	T144A	unknown	Het
Slc9a9	T	C	9: 94,818,418 (GRCm39)	F271L	probably benign	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Spata31e5	C	T	1: 28,817,586 (GRCm39)	V149M	probably damaging	Het
Tcerg1	T	A	18: 42,697,187 (GRCm39)	D759E	probably damaging	Het
Tecta	A	G	9: 42,284,406 (GRCm39)	L893P	probably damaging	Het
Tex101	T	A	7: 24,367,957 (GRCm39)	Q167L	possibly damaging	Het
Tnrc6a	C	T	7: 122,783,438 (GRCm39)	R970*	probably null	Het
Trmt1l	T	C	1: 151,329,742 (GRCm39)	S562P	probably damaging	Het
Tut4	T	A	4: 108,414,554 (GRCm39)	W44R	possibly damaging	Het
Ubn1	A	G	16: 4,891,263 (GRCm39)	E546G	probably damaging	Het
Usp38	T	A	8: 81,712,346 (GRCm39)	Q563L	probably benign	Het
Vmn1r1	C	T	1: 181,985,138 (GRCm39)	V176I	probably benign	Het
Vmn2r1	A	G	3: 63,993,942 (GRCm39)	K96R	probably benign	Het
Vmn2r62	A	G	7: 42,413,992 (GRCm39)	V817A	probably benign	Het
Wdfy3	A	T	5: 101,999,219 (GRCm39)	C3066S	possibly damaging	Het
Yeats4	T	C	10: 117,051,660 (GRCm39)	E199G	possibly damaging	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
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
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'- TACTGCCCCTTCTGGAAGAG -3'

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

Posted On

2020-10-20