Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Capn12'

17038

Institutional Source

Beutler Lab

Gene Symbol

Capn12

Ensembl Gene

ENSMUSG00000054083

Gene Name

calpain 12

Synonyms

MMRRC Submission

038361-MU

Accession Numbers

Ncbi RefSeq: NM_001110807.1; MGI: 1891369

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0070 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

28881422-28893563 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 28889126 bp (GRCm38)

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: 88.0%
3x: 83.9%
10x: 69.3%
20x: 41.9%

Validation Efficiency

88% (67/76)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 55,802,154	I387T	probably damaging	Het
Ankfn1	A	T	11: 89,392,302	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,447,452	E892G	probably benign	Het
AU018091	T	C	7: 3,158,898		probably null	Het
Capn2	C	A	1: 182,473,869		probably benign	Het
Cd79b	A	G	11: 106,311,918		probably benign	Het
Cdh7	C	T	1: 110,098,372	A446V	probably benign	Het
Ciapin1	T	C	8: 94,825,219	N246S	possibly damaging	Het
Fam126a	T	C	5: 23,964,999	S451G	probably damaging	Het
Flt3	A	G	5: 147,372,726		probably benign	Het
Gm2027	T	A	12: 44,222,362		probably benign	Het
Hipk2	G	A	6: 38,818,984	R117*	probably null	Het
Hykk	T	A	9: 54,922,348		probably benign	Het
Kansl1l	T	C	1: 66,801,103	D346G	probably damaging	Het
Kcnt1	T	C	2: 25,892,362	V191A	probably benign	Het
Lcorl	G	A	5: 45,733,701	R437C	probably damaging	Het
Mtch1	T	A	17: 29,340,059		probably benign	Het
Myo1c	A	G	11: 75,660,250	N217S	probably benign	Het
Nav2	A	G	7: 49,570,714	E1669G	probably damaging	Het
Olfr132	A	G	17: 38,130,889	L101P	probably damaging	Het
Olfr1362	T	C	13: 21,611,261	K236R	possibly damaging	Het
Olfr470	T	G	7: 107,844,917	D272A	probably damaging	Het
Phf20l1	T	G	15: 66,639,991	W940G	probably damaging	Het
Pi4k2b	A	C	5: 52,756,918	D309A	probably damaging	Het
Pkd2	T	C	5: 104,466,990	C233R	probably damaging	Het
Prkd3	A	G	17: 78,954,510	Y792H	probably damaging	Het
Pxdn	T	C	12: 29,982,727	L146S	probably damaging	Het
Serpinh1	A	T	7: 99,349,314	S36R	probably damaging	Het
Setx	A	T	2: 29,161,525	T2030S	probably benign	Het
Sin3b	T	A	8: 72,725,582	H105Q	probably damaging	Het
Slx4	A	T	16: 3,988,016	D557E	possibly damaging	Het
Stag1	C	T	9: 100,956,408	P1238S	probably null	Het
Stra6	C	T	9: 58,152,615		probably benign	Het
Taok1	T	A	11: 77,553,717	M511L	probably benign	Het
Tmem127	T	C	2: 127,257,059	V171A	probably damaging	Het
Tmem147	T	C	7: 30,728,101	Y97C	probably damaging	Het
Tmem150a	A	G	6: 72,358,759		probably null	Het
Top2a	C	G	11: 99,015,060		probably null	Het
Zc3hav1l	A	T	6: 38,295,190	S215T	probably damaging	Het
Zscan20	C	T	4: 128,585,882	V939I	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
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
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

Protein Function and Prediction

Capn12 encodes CAPN12, a member of the calpain large subunit family of cytosolic calcium-activated cysteine proteases (1). Calpains function in several cellular processes including cell division, integrin-cytoskeletal interactions, synaptic plasticity, and apoptosis. CAPN12 has potential protease and calcium-binding domains, similar to the classical calpains (1). The function of CAPN12 has not been elucidated, but expression in the hair follicle indicate it may function to regulate hair growth.

Expression/Localization

In situ hybridization and Northern blot analyses determined that the cortex of the hair follicle is the major site of Capn12 expression during the anagen phase of the hair cycle (1).

References

1. Dear, T. N., Meier, N. T., Hunn, M., and Boehm, T. (2000) Gene Structure, Chromosomal Localization, and Expression Pattern of Capn12, a New Member of the Calpain Large Subunit Gene Family. Genomics. 68, 152-160.

Posted On

2013-01-20

Science Writer

Anne Murray