Mutagenetix > Incidental Mutation

Incidental Mutation 'R4666:Capn1'

500754

Institutional Source

Beutler Lab

Gene Symbol

Capn1

Ensembl Gene

ENSMUSG00000024942

Gene Name

calpain 1

Synonyms

mu-calpin, Capa1, Capa-1

MMRRC Submission

041924-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5988546-6015825 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6011015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 253 (N253K)

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: N253K

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000025891
Gene: ENSMUSG00000024942
AA Change: N253K

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: N253K

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000127498
Gene: ENSMUSG00000024942
AA Change: N253K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,902 (GRCm38)	S12L	probably benign	Het
4921507P07Rik	G	T	6: 50,595,828 (GRCm38)	T35K	possibly damaging	Het
4931406P16Rik	T	C	7: 34,284,773 (GRCm38)	M142V	probably damaging	Het
Abce1	A	G	8: 79,687,486 (GRCm38)	V532A	probably damaging	Het
Adamts12	T	A	15: 11,311,492 (GRCm38)	N1278K	probably benign	Het
Adipor1	T	A	1: 134,424,905 (GRCm38)	I138N	probably damaging	Het
Aox2	C	T	1: 58,304,597 (GRCm38)	Q480*	probably null	Het
Arhgef38	C	T	3: 133,140,772 (GRCm38)		probably null	Het
Atmin	A	G	8: 116,957,959 (GRCm38)	D786G	probably damaging	Het
Cdh8	T	C	8: 99,024,902 (GRCm38)	T728A	possibly damaging	Het
Celsr1	A	G	15: 86,030,494 (GRCm38)	S1093P	probably damaging	Het
Cep135	C	A	5: 76,616,854 (GRCm38)	P560T	probably benign	Het
Chfr	C	T	5: 110,144,867 (GRCm38)	Q167*	probably null	Het
Chrna4	A	G	2: 181,037,493 (GRCm38)	S54P	probably damaging	Het
Cntln	A	G	4: 84,971,216 (GRCm38)	N312S	probably benign	Het
Cntn6	A	G	6: 104,728,284 (GRCm38)	E154G	probably benign	Het
Col6a6	T	A	9: 105,767,342 (GRCm38)	Y1249F	possibly damaging	Het
Cpsf2	T	C	12: 101,983,207 (GRCm38)	S61P	probably damaging	Het
Cpvl	C	T	6: 53,931,933 (GRCm38)	E282K	probably benign	Het
Cryba2	C	T	1: 74,890,048 (GRCm38)	D179N	probably benign	Het
Daglb	A	T	5: 143,503,349 (GRCm38)	R654W	probably damaging	Het
Dennd3	A	G	15: 73,570,860 (GRCm38)	D1244G	probably damaging	Het
Dhx57	T	C	17: 80,274,961 (GRCm38)	E405G	probably damaging	Het
Dnah10	T	C	5: 124,828,472 (GRCm38)	M4060T	possibly damaging	Het
Dph1	A	G	11: 75,181,330 (GRCm38)	S238P	probably damaging	Het
Duox1	C	T	2: 122,319,475 (GRCm38)	P116S	probably benign	Het
Ebf1	A	G	11: 44,991,557 (GRCm38)	N447D	probably damaging	Het
Epg5	A	G	18: 78,012,864 (GRCm38)	N1751S	probably benign	Het
Exoc6	A	G	19: 37,570,505 (GRCm38)	D75G	probably damaging	Het
Extl2	T	A	3: 116,024,207 (GRCm38)	I70N	probably damaging	Het
Fam129c	G	T	8: 71,603,825 (GRCm38)	E390*	probably null	Het
Fanca	T	C	8: 123,268,972 (GRCm38)	T1364A	probably damaging	Het
Fbln7	T	A	2: 128,894,910 (GRCm38)		probably null	Het
Foxa3	G	T	7: 19,014,372 (GRCm38)	C275*	probably null	Het
Foxred1	C	T	9: 35,210,855 (GRCm38)		probably benign	Het
Galr2	A	G	11: 116,283,629 (GRCm38)	T362A	probably benign	Het
Garem2	C	A	5: 30,114,667 (GRCm38)	R376S	probably damaging	Het
Gatc	T	A	5: 115,335,547 (GRCm38)	N111I	probably benign	Het
Gjb4	C	A	4: 127,351,778 (GRCm38)	K123N	probably damaging	Het
Gm14025	T	C	2: 129,038,230 (GRCm38)	H592R	probably benign	Het
Gm9894	T	C	13: 67,765,094 (GRCm38)		noncoding transcript	Het
Gtdc1	T	C	2: 44,591,925 (GRCm38)	N301S	probably benign	Het
Gtf2ird1	T	A	5: 134,383,902 (GRCm38)	E55V	probably damaging	Het
Gtsf1	T	C	15: 103,421,205 (GRCm38)	I96V	probably benign	Het
Homer1	T	A	13: 93,402,159 (GRCm38)	I170N	probably damaging	Het
Homer3	G	A	8: 70,290,143 (GRCm38)		probably null	Het
Hoxb9	A	G	11: 96,274,831 (GRCm38)	K242R	possibly damaging	Het
Ifna14	T	C	4: 88,571,336 (GRCm38)	R155G	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,318,408 (GRCm38)		probably benign	Het
Lsm11	A	G	11: 45,933,813 (GRCm38)	S296P	probably damaging	Het
Macrod2	T	C	2: 142,217,599 (GRCm38)	L265P	probably damaging	Het
Mcu	G	A	10: 59,456,699 (GRCm38)	L53F	probably damaging	Het
Mpv17l2	A	G	8: 70,760,415 (GRCm38)	V104A	possibly damaging	Het
Myh10	G	A	11: 68,801,730 (GRCm38)		probably null	Het
Nemf	T	C	12: 69,312,280 (GRCm38)	E1031G	probably damaging	Het
Nhsl1	G	A	10: 18,531,405 (GRCm38)	S1395N	probably damaging	Het
Nlrp2	T	A	7: 5,319,189 (GRCm38)	I82F	probably benign	Het
Nlrp4e	T	A	7: 23,336,780 (GRCm38)	L686*	probably null	Het
Nudt12os	T	A	17: 59,024,551 (GRCm38)		noncoding transcript	Het
Olfr1122	T	A	2: 87,387,876 (GRCm38)	I57K	probably damaging	Het
Olfr16	G	A	1: 172,957,590 (GRCm38)	S265N	probably benign	Het
Olfr180	T	C	16: 58,916,584 (GRCm38)	D19G	probably benign	Het
Olfr205	A	G	16: 59,329,210 (GRCm38)	Y100H	possibly damaging	Het
Olfr93	A	T	17: 37,151,379 (GRCm38)	S44T	possibly damaging	Het
Olfr944	T	A	9: 39,217,846 (GRCm38)	M163K	probably damaging	Het
Pde7a	T	C	3: 19,260,256 (GRCm38)	T59A	probably damaging	Het
Pde7b	A	C	10: 20,438,750 (GRCm38)	D203E	probably damaging	Het
Phkg2	T	A	7: 127,577,984 (GRCm38)	I94N	possibly damaging	Het
Pik3r2	G	A	8: 70,768,859 (GRCm38)	T667I	possibly damaging	Het
Pitx3	T	A	19: 46,137,101 (GRCm38)	H68L	possibly damaging	Het
Prcd	A	G	11: 116,668,164 (GRCm38)		probably benign	Het
Prune2	C	T	19: 17,120,188 (GRCm38)	R1019*	probably null	Het
Psap	A	G	10: 60,300,545 (GRCm38)	D486G	probably benign	Het
Purb	A	T	11: 6,475,615 (GRCm38)	V91E	probably damaging	Het
Recql	C	A	6: 142,376,841 (GRCm38)	V112F	probably damaging	Het
Rptor	A	T	11: 119,743,882 (GRCm38)	I175F	probably damaging	Het
Sbf1	C	T	15: 89,295,246 (GRCm38)	V1385M	probably damaging	Het
Serpinb13	C	T	1: 106,982,844 (GRCm38)	S66L	probably damaging	Het
Slc35f6	T	C	5: 30,655,613 (GRCm38)	L37P	probably damaging	Het
Slc6a3	T	A	13: 73,538,581 (GRCm38)	N22K	possibly damaging	Het
Sorl1	A	T	9: 42,004,051 (GRCm38)	M1294K	probably damaging	Het
Sp6	C	A	11: 97,021,875 (GRCm38)	A138E	probably benign	Het
Spag8	G	T	4: 43,653,408 (GRCm38)		probably benign	Het
Spon1	T	A	7: 114,028,969 (GRCm38)	M320K	probably benign	Het
Tceanc2	A	T	4: 107,165,560 (GRCm38)	S77T	probably damaging	Het
Thsd7a	T	A	6: 12,337,314 (GRCm38)	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,013 (GRCm38)	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,671,271 (GRCm38)		probably null	Het
Tmprss11d	T	C	5: 86,309,401 (GRCm38)	D133G	probably damaging	Het
Trav13n-3	T	A	14: 53,337,496 (GRCm38)	V65D	probably damaging	Het
Trpm1	G	T	7: 64,203,034 (GRCm38)	L65F	probably damaging	Het
Tyk2	C	T	9: 21,114,207 (GRCm38)	A741T	probably damaging	Het
Ube2v1	T	A	2: 167,610,377 (GRCm38)	Y102F	probably damaging	Het
Uckl1	A	T	2: 181,574,868 (GRCm38)	S95T	possibly damaging	Het
Uhrf1bp1	G	T	17: 27,893,503 (GRCm38)	W1222L	possibly damaging	Het
Vcan	C	A	13: 89,679,934 (GRCm38)	W2171L	probably damaging	Het
Vmn1r64	T	C	7: 5,884,358 (GRCm38)	N62S	probably damaging	Het
Vmn2r67	T	C	7: 85,150,623 (GRCm38)	D469G	probably benign	Het
Vps13b	A	G	15: 35,640,544 (GRCm38)	S1352G	probably benign	Het
Zbtb38	C	T	9: 96,688,383 (GRCm38)	R216H	probably damaging	Het

Other mutations in Capn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Capn1	APN	19	6,007,269 (GRCm38)	missense	probably damaging	1.00
IGL01314:Capn1	APN	19	5,989,984 (GRCm38)	splice site	probably benign
R0044:Capn1	UTSW	19	6,014,343 (GRCm38)	missense	probably benign	0.03
R1496:Capn1	UTSW	19	6,007,498 (GRCm38)	critical splice donor site	probably null
R1646:Capn1	UTSW	19	5,997,730 (GRCm38)	missense	probably benign
R1852:Capn1	UTSW	19	6,009,103 (GRCm38)	missense	possibly damaging	0.95
R1924:Capn1	UTSW	19	5,990,056 (GRCm38)	splice site	probably null
R2006:Capn1	UTSW	19	5,991,583 (GRCm38)	missense	probably damaging	1.00
R2109:Capn1	UTSW	19	6,014,358 (GRCm38)	missense	probably benign	0.01
R3704:Capn1	UTSW	19	6,007,371 (GRCm38)	missense	probably damaging	1.00
R3705:Capn1	UTSW	19	6,007,371 (GRCm38)	missense	probably damaging	1.00
R3830:Capn1	UTSW	19	5,994,847 (GRCm38)	missense	probably damaging	1.00
R4664:Capn1	UTSW	19	6,011,015 (GRCm38)	missense	probably benign	0.03
R4665:Capn1	UTSW	19	6,011,015 (GRCm38)	missense	probably benign	0.03
R4694:Capn1	UTSW	19	5,994,731 (GRCm38)	nonsense	probably null
R4745:Capn1	UTSW	19	5,993,916 (GRCm38)	missense	probably benign	0.12
R5103:Capn1	UTSW	19	6,009,110 (GRCm38)	missense	probably damaging	1.00
R5149:Capn1	UTSW	19	5,990,334 (GRCm38)	splice site	probably null
R5569:Capn1	UTSW	19	6,013,660 (GRCm38)	missense	probably benign
R5636:Capn1	UTSW	19	6,014,442 (GRCm38)	missense	probably benign	0.22
R5906:Capn1	UTSW	19	6,011,421 (GRCm38)	missense	possibly damaging	0.90
R5907:Capn1	UTSW	19	5,997,797 (GRCm38)	missense	probably benign
R7038:Capn1	UTSW	19	6,014,319 (GRCm38)	missense	probably benign	0.23
R7091:Capn1	UTSW	19	5,991,556 (GRCm38)	missense	possibly damaging	0.64
R7307:Capn1	UTSW	19	5,993,908 (GRCm38)	missense	possibly damaging	0.91
R7592:Capn1	UTSW	19	6,014,439 (GRCm38)	missense	probably benign	0.00
R7779:Capn1	UTSW	19	5,994,086 (GRCm38)	missense	probably benign
R8514:Capn1	UTSW	19	5,997,824 (GRCm38)	missense	probably damaging	0.98
R8708:Capn1	UTSW	19	6,011,298 (GRCm38)	missense	probably damaging	1.00
R9452:Capn1	UTSW	19	6,007,257 (GRCm38)	missense	probably damaging	1.00
Z1176:Capn1	UTSW	19	6,014,278 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGGAACACGGGAAGGTCA -3'
(R):5'- ACAGAGTGAATGGCAGCTATG -3'

Sequencing Primer
(F):5'- GAATGAAGGCCTGGCTAATCTACTC -3'
(R):5'- AATGGCAGCTATGAGGCTCTTTC -3'

Posted On

2017-12-01