Mutagenetix > Incidental Mutation

Incidental Mutation 'R4793:Capn12'

368766

Institutional Source

Beutler Lab

Gene Symbol

Capn12

Ensembl Gene

ENSMUSG00000054083

Gene Name

calpain 12

Synonyms

Accession Numbers

Ncbi RefSeq: NM_001110807.1; MGI: 1891369

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28881422-28893563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28892669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 671 (D671N)

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: D671N

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000069055
Gene: ENSMUSG00000054083
AA Change: D671N

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: ENSMUST00000143584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207765

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

0.1321

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (91/91)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,191,718	E1143V	probably benign	Het
Abi2	T	A	1: 60,409,804	M1K	probably null	Het
Acp2	T	C	2: 91,206,789	F205L	probably benign	Het
Adam17	T	C	12: 21,347,395	N219D	probably benign	Het
Aldh2	T	C	5: 121,568,979	S168G	probably damaging	Het
Arhgap15	A	T	2: 44,142,341	E312D	probably damaging	Het
BC017158	A	T	7: 128,288,202		probably benign	Het
Calm5	T	C	13: 3,854,401	S32P	probably benign	Het
Ccdc73	A	G	2: 105,017,782		probably null	Het
Cdc20	T	A	4: 118,437,064	I20F	probably benign	Het
Cdh23	A	T	10: 60,331,350	I1841N	probably damaging	Het
Cftr	T	C	6: 18,226,088	V345A	probably damaging	Het
Col15a1	T	C	4: 47,262,997	S550P	possibly damaging	Het
Col4a4	A	G	1: 82,539,099	Y133H	unknown	Het
Csmd1	A	G	8: 16,088,263	S1592P	probably damaging	Het
Cts6	T	A	13: 61,201,812	M56L	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Diexf	T	A	1: 193,113,808	Q50L	probably null	Het
Dock5	A	G	14: 67,800,354	S947P	probably benign	Het
Dpysl2	G	T	14: 66,815,049	A339D	possibly damaging	Het
Ebf2	A	G	14: 67,410,082	D360G	probably damaging	Het
Ensa	T	C	3: 95,625,178		probably null	Het
Fap	C	A	2: 62,544,369	V229F	probably damaging	Het
Fbn1	C	A	2: 125,321,235	G2116*	probably null	Het
Frmd4b	A	T	6: 97,295,861	S857T	probably damaging	Het
Fsip2	T	A	2: 82,987,700	Y4592*	probably null	Het
Fubp1	T	A	3: 152,223,329	Y135N	possibly damaging	Het
Gdap2	T	C	3: 100,170,918	L66P	probably damaging	Het
Gm10257	T	C	13: 100,946,797		noncoding transcript	Het
Gm1758	A	T	16: 14,507,172		noncoding transcript	Het
Gna13	T	C	11: 109,363,629		probably benign	Het
Heatr1	T	C	13: 12,431,837	I1689T	probably benign	Het
Hephl1	A	G	9: 15,097,990	I102T	probably benign	Het
Hist1h2bl	T	C	13: 21,715,918	S76G	probably benign	Het
Hltf	T	G	3: 20,063,950	Y121D	possibly damaging	Het
Hspg2	T	C	4: 137,529,473	V1509A	possibly damaging	Het
Ifitm5	G	T	7: 140,950,164	R16S	probably benign	Het
Il1rap	A	C	16: 26,695,234	D239A	probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kcna6	T	C	6: 126,738,556	I457V	probably damaging	Het
Kctd17	T	A	15: 78,433,024	L47Q	probably damaging	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lrrc63	A	G	14: 75,126,161	S177P	possibly damaging	Het
Lrriq1	T	C	10: 103,170,466	D1266G	probably benign	Het
Map3k2	G	T	18: 32,228,150	M554I	probably damaging	Het
Mettl7a3	A	G	15: 100,335,008	M27V	probably benign	Het
Mst1r	T	A	9: 107,919,925	V1331E	probably damaging	Het
Musk	T	C	4: 58,373,400	I775T	probably damaging	Het
Mybl2	A	G	2: 163,074,763	K7E	probably damaging	Het
Nf1	T	C	11: 79,447,572	S1137P	probably damaging	Het
Nlrp5	A	G	7: 23,417,630	I260V	probably damaging	Het
Olfr1006	A	C	2: 85,674,498	Y218D	probably damaging	Het
Olfr1413	G	T	1: 92,573,485	A105S	possibly damaging	Het
Olfr155	A	T	4: 43,854,323	N5Y	probably benign	Het
Pabpc1l	C	T	2: 164,027,622	A114V	possibly damaging	Het
Plac8l1	T	A	18: 42,178,908	I149F	possibly damaging	Het
Pou6f1	T	A	15: 100,578,412	N531I	probably damaging	Het
Prdm10	A	G	9: 31,353,405	Y712C	probably damaging	Het
Ptbp3	T	C	4: 59,514,297	T43A	possibly damaging	Het
Ptpn13	T	C	5: 103,582,778		probably null	Het
Rnf135	T	C	11: 80,196,949		probably null	Het
Serpinb3d	A	G	1: 107,078,221	L379P	probably damaging	Het
Sh2d6	T	A	6: 72,517,598	T124S	probably benign	Het
Slc26a5	G	A	5: 21,837,994	P153S	probably damaging	Het
Slc5a7	A	G	17: 54,281,794	F275S	possibly damaging	Het
Snx14	A	G	9: 88,394,442	S606P	probably damaging	Het
Sphkap	A	T	1: 83,278,084	I648K	possibly damaging	Het
Spon2	T	C	5: 33,214,560	T301A	probably damaging	Het
Srpr	C	T	9: 35,213,151	T48I	probably benign	Het
Taar9	G	A	10: 24,109,510	P9S	probably benign	Het
Tacc1	A	T	8: 25,182,389	S274R	possibly damaging	Het
Tc2n	A	G	12: 101,651,117	S348P	possibly damaging	Het
Timd2	G	T	11: 46,687,181	T41K	probably damaging	Het
Tmem132a	T	A	19: 10,865,493	E206V	probably damaging	Het
Tpi1	A	T	6: 124,812,581		probably benign	Het
Traf5	T	G	1: 191,997,804	T429P	probably benign	Het
Trav4-3	A	G	14: 53,599,158	S27G	possibly damaging	Het
Tubd1	T	C	11: 86,567,069	M462T	probably benign	Het
Ube4a	T	C	9: 44,948,822	D314G	probably damaging	Het
Vmn2r58	G	T	7: 41,865,071	T158K	probably damaging	Het
Vmn2r68	C	A	7: 85,234,440	M152I	probably benign	Het
Vmn2r91	A	G	17: 18,105,396	E92G	probably damaging	Het
Wdr20rt	T	C	12: 65,226,621	V113A	probably damaging	Het
Zfp729a	T	C	13: 67,620,427	H561R	probably damaging	Het
Zfp804a	T	A	2: 82,235,842	D52E	probably 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
R4983:Capn12	UTSW	7	28890370	missense	probably benign	0.00
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'- TCGGCCTCAGTAGAGAAAGG -3'
(R):5'- CCTCAGCTTCAAACCTATGAGAAG -3'

Sequencing Primer
(F):5'- GACTGAGGAAGACGCTCCC -3'
(R):5'- ATGGTGCTAGAGCCACACTGTC -3'

Posted On

2016-02-04