Mutagenetix > Incidental Mutations

Incidental Mutation 'R3801:Capn13'

273018

Institutional Source

Beutler Lab

Gene Symbol

Capn13

Ensembl Gene

ENSMUSG00000043705

Gene Name

calpain 13

Synonyms

LOC381122

MMRRC Submission

040760-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73306464-73399296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73339401 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 339 (P339L)

Ref Sequence

ENSEMBL: ENSMUSP00000092832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095208]

AlphaFold

Q3UW68

Predicted Effect

probably benign
Transcript: ENSMUST00000095208
AA Change: P339L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092832
Gene: ENSMUSG00000043705
AA Change: P339L

Domain	Start	End	E-Value	Type
CysPc	12	337	3.23e-113	SMART
Pfam:Calpain_III	341	473	2e-13	PFAM
SCOP:d1k94a_	512	664	3e-8	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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 a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,749,420	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,919,795	D614G	probably benign	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dsg1b	C	T	18: 20,390,203	P96S	probably damaging	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,151,926	D91G	probably benign	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nid2	T	C	14: 19,809,997	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,122,703	M574L	probably benign	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1287	A	T	2: 111,449,565	I142F	probably benign	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Prkd1	C	A	12: 50,383,422	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	probably damaging	Het

Other mutations in Capn13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Capn13	APN	17	73339425	missense	possibly damaging	0.82
IGL01099:Capn13	APN	17	73351509	missense	probably damaging	0.99
IGL01613:Capn13	APN	17	73331058	missense	probably benign	0.07
IGL02215:Capn13	APN	17	73330998	missense	probably damaging	1.00
IGL02403:Capn13	APN	17	73351426	missense	possibly damaging	0.82
IGL02877:Capn13	APN	17	73322055	missense	probably damaging	0.97
IGL03113:Capn13	APN	17	73331113	missense	probably benign	0.00
IGL03246:Capn13	APN	17	73382860	missense	probably benign
IGL03369:Capn13	APN	17	73341154	splice site	probably benign
R0116:Capn13	UTSW	17	73351524	missense	probably damaging	1.00
R0729:Capn13	UTSW	17	73322069	missense	probably damaging	1.00
R0745:Capn13	UTSW	17	73351508	missense	probably benign	0.39
R0746:Capn13	UTSW	17	73351508	missense	probably benign	0.39
R0778:Capn13	UTSW	17	73351508	missense	probably benign	0.39
R1252:Capn13	UTSW	17	73367227	missense	possibly damaging	0.80
R1594:Capn13	UTSW	17	73351479	missense	probably benign	0.15
R1641:Capn13	UTSW	17	73382894	missense	possibly damaging	0.91
R1895:Capn13	UTSW	17	73350525	missense	possibly damaging	0.50
R1902:Capn13	UTSW	17	73326361	missense	probably damaging	1.00
R1946:Capn13	UTSW	17	73350525	missense	possibly damaging	0.50
R2184:Capn13	UTSW	17	73365948	missense	probably damaging	1.00
R2427:Capn13	UTSW	17	73326317	splice site	probably benign
R2963:Capn13	UTSW	17	73315263	critical splice donor site	probably null
R3755:Capn13	UTSW	17	73331119	nonsense	probably null
R3759:Capn13	UTSW	17	73322077	missense	probably benign	0.01
R3795:Capn13	UTSW	17	73337392	missense	probably benign	0.14
R3802:Capn13	UTSW	17	73339401	missense	probably benign	0.00
R3803:Capn13	UTSW	17	73339401	missense	probably benign	0.00
R3804:Capn13	UTSW	17	73339401	missense	probably benign	0.00
R4084:Capn13	UTSW	17	73337449	missense	probably benign	0.00
R4194:Capn13	UTSW	17	73339484	missense	possibly damaging	0.48
R4326:Capn13	UTSW	17	73331108	missense	probably benign
R4788:Capn13	UTSW	17	73337432	nonsense	probably null
R4852:Capn13	UTSW	17	73351506	frame shift	probably null
R4853:Capn13	UTSW	17	73351506	frame shift	probably null
R4855:Capn13	UTSW	17	73351506	frame shift	probably null
R5063:Capn13	UTSW	17	73322079	nonsense	probably null
R5112:Capn13	UTSW	17	73351506	frame shift	probably null
R5438:Capn13	UTSW	17	73326484	missense	probably benign
R5955:Capn13	UTSW	17	73331002	missense	possibly damaging	0.92
R6408:Capn13	UTSW	17	73365959	nonsense	probably null
R6512:Capn13	UTSW	17	73382990	missense	probably benign	0.44
R7425:Capn13	UTSW	17	73318058	missense	probably benign	0.13
R7605:Capn13	UTSW	17	73345137	critical splice donor site	probably null
R7678:Capn13	UTSW	17	73315305	missense	probably damaging	1.00
R7776:Capn13	UTSW	17	73322054	missense	probably benign	0.07
R7791:Capn13	UTSW	17	73382888	missense	possibly damaging	0.88
R8087:Capn13	UTSW	17	73316284	missense	probably damaging	1.00
R8090:Capn13	UTSW	17	73382854	missense	probably benign	0.07
R8122:Capn13	UTSW	17	73367210	missense	probably damaging	1.00
R8169:Capn13	UTSW	17	73326472	splice site	probably null
R9193:Capn13	UTSW	17	73345196	missense	probably damaging	1.00
R9299:Capn13	UTSW	17	73326472	splice site	probably null
R9337:Capn13	UTSW	17	73326472	splice site	probably null
Z1176:Capn13	UTSW	17	73341110	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATGCTTCAAGGGTAGTTGCC -3'
(R):5'- ATGGTAAGTCACACATGGGGAC -3'

Sequencing Primer
(F):5'- CAAGGGTAGTTGCCTCTTGAG -3'
(R):5'- GTAAGTCACACATGGGGACTTCCTC -3'

Posted On

2015-03-25