Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Capn12'

64456

Institutional Source

Beutler Lab

Gene Symbol

Capn12

Ensembl Gene

ENSMUSG00000054083

Gene Name

calpain 12

Synonyms

MMRRC Submission

038361-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0070 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

28580890-28593010 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 28588551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066880] [ENSMUST00000068045] [ENSMUST00000217157]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066880

SMART Domains

Protein: ENSMUSP00000069055
Gene: ENSMUSG00000054083

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

probably benign
Transcript: ENSMUST00000068045

SMART Domains

Protein: ENSMUSP00000066068
Gene: ENSMUSG00000054808

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
CH	53	153	1.08e-24	SMART
CH	166	265	3.49e-24	SMART
SPEC	297	403	2.83e0	SMART
SPEC	417	518	3.78e-23	SMART
SPEC	532	639	8.64e-9	SMART
SPEC	653	752	3.56e0	SMART
EFh	770	798	1.92e-3	SMART
EFh	811	839	1.56e-3	SMART
efhand_Ca_insen	842	908	1.27e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208299

Predicted Effect

probably benign
Transcript: ENSMUST00000216863

Predicted Effect

probably benign
Transcript: ENSMUST00000217157

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (68/70)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,109,154 (GRCm39)	I387T	probably damaging	Het
Alpi	A	G	1: 87,028,881 (GRCm39)		probably benign	Het
Ankfn1	A	T	11: 89,283,128 (GRCm39)	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,046,624 (GRCm39)	E892G	probably benign	Het
AU018091	T	C	7: 3,208,738 (GRCm39)		probably null	Het
Capn2	C	A	1: 182,301,434 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,202,744 (GRCm39)		probably benign	Het
Cdh20	C	T	1: 110,026,102 (GRCm39)	A446V	probably benign	Het
Ciapin1	T	C	8: 95,551,847 (GRCm39)	N246S	possibly damaging	Het
Cmip	T	A	8: 118,153,293 (GRCm39)	I270N	probably damaging	Het
Cyp2d40	A	G	15: 82,644,975 (GRCm39)	V225A	unknown	Het
Dnah9	A	G	11: 66,050,866 (GRCm39)	V142A	probably benign	Het
Dnai4	A	T	4: 102,917,131 (GRCm39)	I571K	probably damaging	Het
Flt3	A	G	5: 147,309,536 (GRCm39)		probably benign	Het
Gm10238	A	G	15: 75,109,434 (GRCm39)		noncoding transcript	Het
Gm4787	T	A	12: 81,425,840 (GRCm39)	D106V	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hycc1	T	C	5: 24,169,997 (GRCm39)	S451G	probably damaging	Het
Ifna11	A	G	4: 88,738,512 (GRCm39)	D106G	possibly damaging	Het
Igkv1-115	G	A	6: 68,138,402 (GRCm39)	V2I	probably benign	Het
Itga6	T	C	2: 71,657,060 (GRCm39)		probably benign	Het
Kcnj6	C	A	16: 94,742,056 (GRCm39)	K5N	probably benign	Het
Kcnt1	T	C	2: 25,782,374 (GRCm39)	V191A	probably benign	Het
Lcorl	G	A	5: 45,891,043 (GRCm39)	R437C	probably damaging	Het
Man2a1	G	A	17: 64,966,074 (GRCm39)		probably null	Het
Map3k14	T	A	11: 103,130,380 (GRCm39)		probably null	Het
Mtch1	T	A	17: 29,559,033 (GRCm39)		probably benign	Het
Myo1c	A	G	11: 75,551,076 (GRCm39)	N217S	probably benign	Het
Or2h15	A	G	17: 38,441,780 (GRCm39)	L101P	probably damaging	Het
Or2w4	T	C	13: 21,795,431 (GRCm39)	K236R	possibly damaging	Het
Orm3	A	G	4: 63,274,883 (GRCm39)	T64A	probably benign	Het
Phf20l1	T	G	15: 66,511,840 (GRCm39)	W940G	probably damaging	Het
Phldb1	C	T	9: 44,619,201 (GRCm39)	R844H	probably damaging	Het
Piezo2	T	C	18: 63,235,155 (GRCm39)	D814G	probably damaging	Het
Pkd2	T	C	5: 104,614,856 (GRCm39)	C233R	probably damaging	Het
Prkd3	A	G	17: 79,261,939 (GRCm39)	Y792H	probably damaging	Het
Pth1r	A	T	9: 110,556,618 (GRCm39)		probably null	Het
Pxdn	T	C	12: 30,032,726 (GRCm39)	L146S	probably damaging	Het
Rnf32	A	G	5: 29,430,125 (GRCm39)	T315A	probably benign	Het
Rpl5	T	C	5: 108,049,766 (GRCm39)	Y12H	probably benign	Het
Serpinh1	A	T	7: 98,998,521 (GRCm39)	S36R	probably damaging	Het
Setx	A	T	2: 29,051,537 (GRCm39)	T2030S	probably benign	Het
Sf3a3	G	A	4: 124,608,748 (GRCm39)	V21I	probably benign	Het
Sin3b	T	A	8: 73,452,210 (GRCm39)	H105Q	probably damaging	Het
Slitrk1	T	C	14: 109,150,749 (GRCm39)		probably benign	Het
Slx4	A	T	16: 3,805,880 (GRCm39)	D557E	possibly damaging	Het
Sprr3	C	T	3: 92,364,609 (GRCm39)	M78I	probably benign	Het
Ssmem1	A	G	6: 30,519,420 (GRCm39)	E35G	possibly damaging	Het
Stag1	C	T	9: 100,838,461 (GRCm39)	P1238S	probably null	Het
Stra6	C	T	9: 58,059,898 (GRCm39)		probably benign	Het
Tmem127	T	C	2: 127,098,979 (GRCm39)	V171A	probably damaging	Het
Tmem150a	A	G	6: 72,335,742 (GRCm39)		probably null	Het
Top2a	C	G	11: 98,905,886 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,644,771 (GRCm39)		probably null	Het
Tusc3	G	A	8: 39,530,421 (GRCm39)	G129R	possibly damaging	Het
Uspl1	A	G	5: 149,146,515 (GRCm39)	Y422C	probably damaging	Het
Vmn2r88	A	T	14: 51,651,597 (GRCm39)	T312S	probably benign	Het
Zc3hav1l	A	T	6: 38,272,125 (GRCm39)	S215T	probably damaging	Het
Zfp947	T	A	17: 22,365,165 (GRCm39)	T170S	probably benign	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
IGL02863:Capn12	APN	7	28,582,581 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGAATCACAAATCCCTGTCCCTGC -3'
(R):5'- AAAGTGACTCAGGTTTAACCCCAGC -3'

Sequencing Primer
(F):5'- GCATCTTCAGCCCTGCC -3'
(R):5'- GTTTAACCCCAGCATGGGTAAC -3'

Posted On

2013-08-06