Mutagenetix > Incidental Mutation

Incidental Mutation 'R4983:Capn12'

385732

Institutional Source

Beutler Lab

Gene Symbol

Capn12

Ensembl Gene

ENSMUSG00000054083

Gene Name

calpain 12

Synonyms

MMRRC Submission

042577-MU

Accession Numbers

Ncbi RefSeq: NM_001110807.1; MGI: 1891369

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28881422-28893563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28890370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 622 (H622L)

Ref Sequence

ENSEMBL: ENSMUSP00000069055 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000066880
AA Change: H622L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000069055
Gene: ENSMUSG00000054083
AA Change: H622L

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: ENSMUST00000129338

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (103/106)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	G	19: 42,053,076	S215R	possibly damaging	Het
9130011E15Rik	T	C	19: 45,950,707	T335A	probably benign	Het
Abcc9	T	C	6: 142,682,141	M388V	probably benign	Het
Acbd6	A	C	1: 155,601,529	T154P	probably benign	Het
Ago1	T	C	4: 126,453,654	D434G	probably damaging	Het
Ankib1	A	T	5: 3,769,652	M89K	probably benign	Het
Arap2	A	T	5: 62,676,525	H866Q	probably damaging	Het
BC017158	C	T	7: 128,276,473		probably benign	Het
Capns2	T	G	8: 92,901,902	F140V	probably damaging	Het
Catsper1	T	G	19: 5,335,963	F75V	probably benign	Het
Ccdc24	T	C	4: 117,872,100	N16S	probably benign	Het
Cdkn2aip	A	T	8: 47,712,929	L114Q	probably damaging	Het
Cenpe	T	A	3: 135,234,928	S649R	probably damaging	Het
Chgb	A	T	2: 132,793,682	R515W	probably damaging	Het
Chrnb1	A	G	11: 69,793,978	F123S	probably damaging	Het
Copz2	A	T	11: 96,857,551		probably null	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Daw1	C	A	1: 83,187,998	A178E	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Epb41l5	T	C	1: 119,555,071	D629G	probably benign	Het
Erap1	A	G	13: 74,690,710	E925G	probably benign	Het
Exoc7	A	C	11: 116,289,269	F657V	probably damaging	Het
Fam210b	G	C	2: 172,345,665	A2P	probably damaging	Homo
Fry	A	G	5: 150,398,254	E1018G	probably damaging	Het
Galc	A	T	12: 98,242,768	L15*	probably null	Het
Gm11232	T	A	4: 71,756,901	K121N	possibly damaging	Het
Gm17677	T	G	9: 35,742,169	F90V	probably benign	Het
Hectd1	A	T	12: 51,784,262	D931E	probably benign	Het
Hecw2	T	C	1: 53,832,671	H1372R	probably benign	Het
Ighv3-2	T	A	12: 114,033,986		noncoding transcript	Het
Kcns2	T	G	15: 34,839,605	S371R	probably damaging	Het
Kif23	T	C	9: 61,936,703	K175E	probably benign	Het
Kmt2c	G	A	5: 25,295,511	R436W	possibly damaging	Het
Lama5	A	G	2: 180,193,449	S1317P	probably benign	Het
Lce1e	T	C	3: 92,707,828	S71G	unknown	Het
Lrrc37a	T	A	11: 103,497,618	E2327V	unknown	Het
Map3k20	A	G	2: 72,402,067	M356V	probably benign	Het
Med12l	C	T	3: 59,261,929	A1580V	probably damaging	Het
Metap2	G	T	10: 93,889,600	T30K	possibly damaging	Het
Mysm1	T	A	4: 94,972,970	T53S	probably benign	Het
Nasp	A	T	4: 116,602,185	D717E	probably damaging	Het
Ndnf	G	A	6: 65,703,571	R278H	possibly damaging	Het
Neb	A	T	2: 52,216,261	N4205K	probably damaging	Het
Nebl	A	T	2: 17,375,271	I764N	possibly damaging	Het
Nucb1	A	G	7: 45,498,889	Y131H	probably damaging	Het
Olfr1157	G	T	2: 87,962,698	H65N	probably benign	Het
Olfr292	A	C	7: 86,694,479	T8P	probably benign	Het
Olfr381	A	G	11: 73,486,797	I9T	probably benign	Het
Oscp1	T	A	4: 126,076,762	C115S	probably benign	Het
Paip2	C	T	18: 35,613,359	R59C	possibly damaging	Het
Pcdhga4	G	A	18: 37,686,519	D374N	probably damaging	Het
Pcolce	G	T	5: 137,605,674		probably benign	Het
Pcyox1l	T	C	18: 61,699,397	E193G	probably damaging	Het
Pde6b	A	T	5: 108,425,330	Q522L	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Phf11a	A	G	14: 59,284,438	F95L	probably benign	Het
Pja2	A	C	17: 64,309,058	S281A	probably benign	Het
Plekhm2	A	G	4: 141,634,376	F272S	probably damaging	Het
Pom121l2	T	C	13: 21,983,814	S752P	probably benign	Het
Ppl	T	C	16: 5,088,718	T1238A	possibly damaging	Het
Prmt7	A	G	8: 106,250,363	Y569C	probably damaging	Het
Prss37	G	A	6: 40,516,136	T132I	probably benign	Het
Psmf1	A	T	2: 151,729,457		probably benign	Het
Ptprj	A	C	2: 90,460,532	I528S	probably damaging	Het
Reg1	A	G	6: 78,428,213	T140A	possibly damaging	Het
Rtn4	A	G	11: 29,707,217	N457S	probably benign	Het
Scn9a	T	C	2: 66,566,270	K93R	probably benign	Het
Sec16a	A	G	2: 26,439,519	V828A	probably benign	Het
Sec23b	T	A	2: 144,581,953	D507E	probably benign	Het
Sirt4	A	T	5: 115,482,791	F107L	probably benign	Het
Slc14a2	A	T	18: 78,150,401	L862Q	probably damaging	Het
Slc16a4	T	C	3: 107,300,860	S229P	probably benign	Het
Slc37a3	A	T	6: 39,352,717	C185*	probably null	Het
Slc5a2	A	T	7: 128,271,810	*154C	probably null	Het
Snx17	A	G	5: 31,195,794	S42G	possibly damaging	Het
Tgm6	T	C	2: 130,141,193	V234A	probably damaging	Het
Thbs4	A	G	13: 92,790,699	M94T	probably benign	Het
Thtpa	A	G	14: 55,072,148		probably benign	Het
Tie1	T	C	4: 118,483,755	E343G	probably damaging	Het
Tmem145	A	G	7: 25,308,602	I238V	probably benign	Het
Tmprss11f	T	C	5: 86,537,999	S170G	probably benign	Het
Tnk2	T	A	16: 32,680,465	D865E	probably damaging	Het
Ttll8	T	C	15: 88,925,582	E337G	probably benign	Het
Ttn	G	A	2: 76,867,446		probably benign	Het
Tubgcp6	T	C	15: 89,106,291	E710G	probably damaging	Het
Txndc2	T	A	17: 65,638,060	H374L	probably benign	Het
Unc80	G	T	1: 66,674,732		probably null	Het
Vmn2r23	G	A	6: 123,733,349	C537Y	probably damaging	Het
Vmn2r45	A	G	7: 8,483,117	F391L	probably damaging	Het
Vstm4	A	T	14: 32,919,245	T262S	probably benign	Het
Zfp180	C	T	7: 24,106,078	R641C	probably damaging	Het
Zfp979	A	T	4: 147,613,914	S113T	possibly damaging	Het
Zswim4	C	T	8: 84,226,667		probably null	Het
Zswim5	T	A	4: 116,985,686	M876K	possibly damaging	Het

Other mutations in Capn12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01717:Capn12	APN	7	28889105	missense	probably benign
IGL01758:Capn12	APN	7	28886623	splice site	probably null
IGL02381:Capn12	APN	7	28886455	splice site	probably benign
IGL02863:Capn12	APN	7	28883156	missense	probably damaging	1.00
IGL03237:Capn12	APN	7	28890941	missense	probably damaging	1.00
PIT4418001:Capn12	UTSW	7	28886536	missense	probably benign	0.06
R0027:Capn12	UTSW	7	28881960	missense	probably benign	0.01
R0047:Capn12	UTSW	7	28890387	critical splice donor site	probably null
R0047:Capn12	UTSW	7	28890387	critical splice donor site	probably null
R0070:Capn12	UTSW	7	28889126	unclassified	probably benign
R0070:Capn12	UTSW	7	28889126	unclassified	probably benign
R0533:Capn12	UTSW	7	28887683	missense	possibly damaging	0.48
R0932:Capn12	UTSW	7	28887698	missense	possibly damaging	0.91
R1524:Capn12	UTSW	7	28882764	splice site	probably benign
R4758:Capn12	UTSW	7	28892723	missense	possibly damaging	0.66
R4793:Capn12	UTSW	7	28892669	missense	probably benign	0.23
R5560:Capn12	UTSW	7	28882860	missense	probably benign	0.01
R5835:Capn12	UTSW	7	28881958	missense	probably benign	0.05
R5886:Capn12	UTSW	7	28887605	missense	probably benign	0.01
R6247:Capn12	UTSW	7	28888652	missense	probably benign	0.05
R6441:Capn12	UTSW	7	28888002	missense	probably benign	0.00
R7136:Capn12	UTSW	7	28883107	splice site	probably null
R7757:Capn12	UTSW	7	28882821	missense	probably damaging	1.00
R8329:Capn12	UTSW	7	28883201	missense	probably damaging	1.00
R8888:Capn12	UTSW	7	28886524	splice site	probably benign
R8924:Capn12	UTSW	7	28883203	missense	probably damaging	1.00
R9150:Capn12	UTSW	7	28890953	missense	probably benign	0.11
R9209:Capn12	UTSW	7	28881818	missense	probably damaging	1.00
Z1177:Capn12	UTSW	7	28887828	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTTGGCCTACATGCAAGG -3'
(R):5'- AACCAGAGGCAGCTCTAGATC -3'

Sequencing Primer
(F):5'- ATTGGGCTTAGGACCTGCGAAC -3'
(R):5'- GGCAGCTCTAGATCACTACATTTGG -3'

Posted On

2016-05-10