Mutagenetix > Incidental Mutation

Incidental Mutation 'R9150:Capn12'

694961

Institutional Source

Beutler Lab

Gene Symbol

Capn12

Ensembl Gene

ENSMUSG00000054083

Gene Name

calpain 12

Synonyms

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001110807.1; MGI: 1891369

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28881422-28893563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28890953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 642 (N642D)

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: N642D

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000069055
Gene: ENSMUSG00000054083
AA Change: N642D

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

probably benign
Transcript: ENSMUST00000216863

Predicted Effect

probably benign
Transcript: ENSMUST00000217157

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	CTCCGGTGAGTGCCTCATCC	CTCC	5: 137,555,092		probably null	Het
Ampd1	A	T	3: 103,081,043	I101F	possibly damaging	Het
Arhgap11a	A	G	2: 113,843,269	V92A	possibly damaging	Het
Arih1	C	A	9: 59,436,786	L189F	possibly damaging	Het
B4galt3	A	G	1: 171,276,326	R379G	probably benign	Het
BC080695	A	G	4: 143,571,961	Y158C	probably benign	Het
C130026I21Rik	T	A	1: 85,113,638	Q33L	probably damaging	Het
Cdc42ep3	T	C	17: 79,334,870	H207R	probably benign	Het
Dcps	A	T	9: 35,124,642	L316H	probably damaging	Het
Dmgdh	A	G	13: 93,688,595	Y142C	probably damaging	Het
Elmo2	A	G	2: 165,298,687	V300A	probably damaging	Het
Eml6	A	T	11: 29,805,791	V821E	probably benign	Het
Fam181a	A	T	12: 103,315,880	N15Y	probably damaging	Het
Gm26657	G	T	4: 56,740,835	E7*	probably null	Het
Gm8267	A	T	14: 44,717,905	S220T	probably benign	Het
Gpld1	A	T	13: 24,962,322	Y183F	probably damaging	Het
Gpr158	G	A	2: 21,826,440	G784R	probably benign	Het
Grm2	A	G	9: 106,647,458	L215P		Het
Gtpbp1	A	G	15: 79,707,964	D252G	probably damaging	Het
Heatr5b	A	G	17: 78,796,019	V1135A	probably benign	Het
Lrrc8e	A	C	8: 4,236,030	K752Q	probably benign	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mapre2	A	G	18: 23,858,151	T201A	probably benign	Het
Mcm9	A	T	10: 53,626,014	N85K		Het
Mdga1	T	C	17: 29,838,446	T92A	probably damaging	Het
Mgea5	A	T	19: 45,782,982	V50E	probably benign	Het
Mrvi1	T	C	7: 110,898,998	T397A	probably benign	Het
Nemf	A	C	12: 69,341,046	D421E	probably benign	Het
Olfr1032	A	T	2: 86,008,282	K169*	probably null	Het
Olfr1055	A	T	2: 86,346,992	M258K	probably damaging	Het
Olfr177	G	T	16: 58,872,642	C169*	probably null	Het
Olfr309	G	C	7: 86,306,734	F126L	probably damaging	Het
Pcdhga5	A	C	18: 37,694,880	N127T	probably damaging	Het
Phyhipl	A	T	10: 70,569,057	V107E	probably damaging	Het
Pkd1l1	G	A	11: 8,836,256	R2383C		Het
Ppp1r16a	G	A	15: 76,690,854		probably benign	Het
Rnf41	T	C	10: 128,436,530	V142A		Het
Sgcd	C	T	11: 46,979,343	V264I	probably damaging	Het
Six2	A	G	17: 85,685,335	S247P	probably benign	Het
Slc17a7	T	G	7: 45,170,743	Y241D	probably damaging	Het
Slc30a5	T	A	13: 100,803,407	K724*	probably null	Het
Slitrk1	T	A	14: 108,911,669	I537F	possibly damaging	Het
Spen	C	T	4: 141,517,157	R189Q	unknown	Het
Srd5a3	T	A	5: 76,149,768	L139Q	probably damaging	Het
Tgfbrap1	A	T	1: 43,075,825	Y38*	probably null	Het
Tln2	A	T	9: 67,221,496	M1437K	probably damaging	Het
Tmem87b	T	C	2: 128,845,481	I467T	probably damaging	Het
Tnfrsf21	T	A	17: 43,087,800	I599N	probably damaging	Het
Trmt112	T	A	19: 6,910,252	L23Q	probably damaging	Het
Tsc22d1	T	A	14: 76,416,616	N178K	probably damaging	Het
Ttc23	A	G	7: 67,726,102	Y476C	probably damaging	Het
Twf1	A	T	15: 94,586,393	W83R	probably damaging	Het
Vmn2r14	T	A	5: 109,219,917	H403L	probably damaging	Het
Wiz	A	T	17: 32,367,835	I167N	probably benign	Het
Zdhhc22	G	A	12: 86,988,418	P87S	probably benign	Het
Zfp618	C	T	4: 63,121,366	Q401*	probably null	Het
Zfp715	T	A	7: 43,299,289	I416F	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
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
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'- TTTGAACTTGTCCCCAACAGC -3'
(R):5'- GCCACAGATAAGCAGTCAGAGC -3'

Sequencing Primer
(F):5'- CTCCTTCTCACAGGTGTAGAGTG -3'
(R):5'- TAAGCAGTCAGAGCCTCCAGG -3'

Posted On

2022-01-20