Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02863:Capn12'

362256

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Capn12

Ensembl Gene

ENSMUSG00000054083

Gene Name

calpain 12

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02863

Quality Score

Status

Chromosome

Chromosomal Location

28580890-28593010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28582581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 152 (V152E)

Ref Sequence

ENSEMBL: ENSMUSP00000069055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066880]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000066880
AA Change: V152E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069055
Gene: ENSMUSG00000054083
AA Change: V152E

Domain	Start	End	E-Value	Type
CysPc	27	349	7.8e-139	SMART
calpain_III	353	529	7.47e-72	SMART
SCOP:d1alva_	552	720	3e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208228

Coding Region Coverage

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

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,115,026 (GRCm39)	H640L	probably damaging	Het
Akr1c19	T	A	13: 4,287,112 (GRCm39)	Y110*	probably null	Het
Alk	T	A	17: 72,204,830 (GRCm39)	E1114V	probably damaging	Het
Anln	A	T	9: 22,287,661 (GRCm39)	D213E	probably damaging	Het
Ano9	T	C	7: 140,688,564 (GRCm39)	N164S	probably benign	Het
Arhgef9	G	A	X: 94,121,110 (GRCm39)	R266C	probably damaging	Het
Armh3	T	A	19: 45,946,850 (GRCm39)	N256Y	probably damaging	Het
Arnt2	C	T	7: 83,917,145 (GRCm39)	R483H	probably damaging	Het
Asxl3	A	T	18: 22,656,541 (GRCm39)	N1517I	probably benign	Het
Baiap3	C	T	17: 25,463,476 (GRCm39)		probably benign	Het
Casq2	A	G	3: 102,051,491 (GRCm39)	T324A	possibly damaging	Het
Cmtm7	T	C	9: 114,592,457 (GRCm39)	T47A	probably benign	Het
Csmd2	A	G	4: 128,415,677 (GRCm39)	S2669G	probably benign	Het
Dnah1	C	T	14: 31,017,250 (GRCm39)	R1520H	probably damaging	Het
Dnah8	T	C	17: 30,988,671 (GRCm39)	C3214R	probably damaging	Het
Elapor2	C	A	5: 9,511,399 (GRCm39)	C920*	probably null	Het
Fbn1	A	T	2: 125,145,176 (GRCm39)	C2688S	possibly damaging	Het
Fgf13	A	G	X: 58,109,029 (GRCm39)	V201A	probably damaging	Het
Ghr	A	T	15: 3,357,584 (GRCm39)	L228*	probably null	Het
Gpr22	A	G	12: 31,760,006 (GRCm39)	C39R	probably benign	Het
Hk1	T	C	10: 62,131,534 (GRCm39)	T274A	possibly damaging	Het
Il18r1	T	A	1: 40,526,167 (GRCm39)	L238M	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Map3k21	A	T	8: 126,654,280 (GRCm39)	E366D	probably benign	Het
Mgat4e	C	T	1: 134,468,896 (GRCm39)	E383K	probably benign	Het
Mrc2	G	A	11: 105,224,446 (GRCm39)		probably benign	Het
Myh13	T	A	11: 67,223,367 (GRCm39)	L229Q	probably damaging	Het
Myo15a	T	A	11: 60,368,953 (GRCm39)	L571Q	probably damaging	Het
Ncoa1	T	A	12: 4,347,513 (GRCm39)	M354L	probably benign	Het
Nomo1	T	C	7: 45,696,340 (GRCm39)	F286S	probably damaging	Het
Ocstamp	A	G	2: 165,239,428 (GRCm39)	F253L	probably damaging	Het
Or10ak9	T	G	4: 118,726,083 (GRCm39)	I34S	possibly damaging	Het
Or8j3c	A	G	2: 86,253,457 (GRCm39)	S188P	probably benign	Het
Osbpl8	T	C	10: 111,120,286 (GRCm39)		probably benign	Het
Parp4	T	C	14: 56,886,243 (GRCm39)	L1774P	unknown	Het
Paxip1	T	C	5: 27,964,393 (GRCm39)	S729G	probably benign	Het
Phlpp1	T	A	1: 106,304,027 (GRCm39)		probably null	Het
Pkd1	G	A	17: 24,788,726 (GRCm39)	G828D	possibly damaging	Het
Ppp4r3c2	C	T	X: 88,796,429 (GRCm39)	P87L	possibly damaging	Het
Raver1	A	G	9: 20,987,267 (GRCm39)	L670P	probably damaging	Het
Rhd	A	G	4: 134,612,621 (GRCm39)	I291V	probably damaging	Het
Rorb	C	T	19: 18,929,617 (GRCm39)	E377K	probably benign	Het
Slc1a5	T	C	7: 16,527,646 (GRCm39)	I314T	probably benign	Het
Synj1	T	C	16: 90,758,322 (GRCm39)	T841A	possibly damaging	Het
Tenm4	T	A	7: 96,522,913 (GRCm39)	L1448H	probably damaging	Het
Tmc3	G	T	7: 83,271,494 (GRCm39)	S882I	probably benign	Het
Tmc3	A	T	7: 83,271,493 (GRCm39)	S882C	possibly damaging	Het
Tmem168	T	C	6: 13,582,917 (GRCm39)	N271D	probably damaging	Het
Uck1	G	A	2: 32,148,334 (GRCm39)	R161C	probably benign	Het
Usp13	A	G	3: 32,973,096 (GRCm39)	I759V	possibly damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vmn2r115	G	T	17: 23,578,257 (GRCm39)	V577F	probably damaging	Het

Other mutations in Capn12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01717:Capn12	APN	7	28,588,530 (GRCm39)	missense	probably benign
IGL01758:Capn12	APN	7	28,586,048 (GRCm39)	splice site	probably null
IGL02381:Capn12	APN	7	28,585,880 (GRCm39)	splice site	probably benign
IGL03237:Capn12	APN	7	28,590,366 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Capn12	UTSW	7	28,585,961 (GRCm39)	missense	probably benign	0.06
R0027:Capn12	UTSW	7	28,581,385 (GRCm39)	missense	probably benign	0.01
R0047:Capn12	UTSW	7	28,589,812 (GRCm39)	critical splice donor site	probably null
R0047:Capn12	UTSW	7	28,589,812 (GRCm39)	critical splice donor site	probably null
R0070:Capn12	UTSW	7	28,588,551 (GRCm39)	unclassified	probably benign
R0070:Capn12	UTSW	7	28,588,551 (GRCm39)	unclassified	probably benign
R0533:Capn12	UTSW	7	28,587,108 (GRCm39)	missense	possibly damaging	0.48
R0932:Capn12	UTSW	7	28,587,123 (GRCm39)	missense	possibly damaging	0.91
R1524:Capn12	UTSW	7	28,582,189 (GRCm39)	splice site	probably benign
R4758:Capn12	UTSW	7	28,592,148 (GRCm39)	missense	possibly damaging	0.66
R4793:Capn12	UTSW	7	28,592,094 (GRCm39)	missense	probably benign	0.23
R4983:Capn12	UTSW	7	28,589,795 (GRCm39)	missense	probably benign	0.00
R5560:Capn12	UTSW	7	28,582,285 (GRCm39)	missense	probably benign	0.01
R5835:Capn12	UTSW	7	28,581,383 (GRCm39)	missense	probably benign	0.05
R5886:Capn12	UTSW	7	28,587,030 (GRCm39)	missense	probably benign	0.01
R6247:Capn12	UTSW	7	28,588,077 (GRCm39)	missense	probably benign	0.05
R6441:Capn12	UTSW	7	28,587,427 (GRCm39)	missense	probably benign	0.00
R7136:Capn12	UTSW	7	28,582,532 (GRCm39)	splice site	probably null
R7757:Capn12	UTSW	7	28,582,246 (GRCm39)	missense	probably damaging	1.00
R8329:Capn12	UTSW	7	28,582,626 (GRCm39)	missense	probably damaging	1.00
R8888:Capn12	UTSW	7	28,585,949 (GRCm39)	splice site	probably benign
R8924:Capn12	UTSW	7	28,582,628 (GRCm39)	missense	probably damaging	1.00
R9150:Capn12	UTSW	7	28,590,378 (GRCm39)	missense	probably benign	0.11
R9209:Capn12	UTSW	7	28,581,243 (GRCm39)	missense	probably damaging	1.00
Z1177:Capn12	UTSW	7	28,587,253 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18