Mutagenetix > Incidental Mutation

Incidental Mutation 'R7136:Capn12'

568599

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 #

R7136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28881422-28893563 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 28883107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000069055 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	T	5: 5,466,631	D63E	possibly damaging	Het
1700123K08Rik	A	G	5: 138,562,348	S262P	probably damaging	Het
Abcc2	A	G	19: 43,837,460	E1512G	probably damaging	Het
Abcg2	T	G	6: 58,684,340	Y459D	possibly damaging	Het
Amy1	T	C	3: 113,563,599	Y197C	probably damaging	Het
Bptf	A	G	11: 107,099,715	I516T	probably damaging	Het
Cbln2	T	A	18: 86,716,672	L190Q	probably damaging	Het
Ccdc157	C	T	11: 4,148,592	E305K	possibly damaging	Het
Ccdc47	A	G	11: 106,205,004	S289P	probably benign	Het
Chd3	C	T	11: 69,348,438	E1756K	probably null	Het
Chrd	G	T	16: 20,734,522	A183S	possibly damaging	Het
Cp	C	T	3: 19,985,658	R880*	probably null	Het
Cyp24a1	A	T	2: 170,494,143	D191E	probably benign	Het
Dnah1	T	C	14: 31,298,656	Y1252C	probably damaging	Het
Eps8l1	A	G	7: 4,477,404	D487G	probably damaging	Het
Fam227b	T	G	2: 126,124,028	Q159P	probably damaging	Het
Fat3	A	G	9: 16,378,185	I14T	probably benign	Het
Fbxl19	C	A	7: 127,750,045	T129N	possibly damaging	Het
Fuca2	T	C	10: 13,505,921	F193L	probably benign	Het
Gm10037	A	G	13: 67,842,992		probably null	Het
H2-Q1	T	C	17: 35,320,627		probably null	Het
Hgh1	A	G	15: 76,370,431	M336V	probably benign	Het
Il12b	T	C	11: 44,408,030	L104P	probably benign	Het
Kcnh2	A	T	5: 24,332,991	F125I	probably benign	Het
Kcnk7	A	G	19: 5,706,076	H110R	probably benign	Het
Kdm3a	G	A	6: 71,611,780	P415L	probably benign	Het
Kifc3	T	C	8: 95,103,449	T610A	probably benign	Het
Lmbr1l	C	A	15: 98,911,491		probably null	Het
Lmo7	T	A	14: 101,920,539	M1436K	unknown	Het
Lrp1	C	T	10: 127,558,622	C2574Y	probably damaging	Het
Med13l	A	G	5: 118,721,522	E258G	possibly damaging	Het
Mesp1	T	C	7: 79,793,158	I124V	probably damaging	Het
Mrgpra2a	A	T	7: 47,427,186	I108N	probably benign	Het
Nos1	G	T	5: 117,895,860	R349L	possibly damaging	Het
Olfr1356	T	C	10: 78,847,781	I45V	probably benign	Het
Olfr195	C	T	16: 59,148,964	T38I	probably damaging	Het
Osgin1	T	A	8: 119,441,437	M1K	probably null	Het
Pde4dip	C	T	3: 97,694,063	S2346N	probably benign	Het
Pde7a	T	C	3: 19,231,094	M310V	probably benign	Het
Pigw	G	A	11: 84,877,759	T248M	probably damaging	Het
Pink1	T	C	4: 138,317,458	T323A	probably damaging	Het
Polr3a	C	T	14: 24,461,815	R891Q	probably damaging	Het
Prkar1b	C	A	5: 139,108,608	C75F	probably benign	Het
Prss58	C	T	6: 40,900,053		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Qars	T	C	9: 108,512,772	I350T	probably damaging	Het
Qprt	T	C	7: 127,108,812	K149R	probably damaging	Het
Rasgrf1	T	A	9: 89,991,598	D653E	probably damaging	Het
Rbm26	T	C	14: 105,144,267	M481V	possibly damaging	Het
Rdx	C	T	9: 52,086,445	T573M	probably damaging	Het
Rgs14	A	G	13: 55,379,695		probably null	Het
Robo2	T	C	16: 73,956,550	E813G	probably damaging	Het
Rrbp1	A	T	2: 143,949,680	F1369I	probably benign	Het
Sh2d4b	T	A	14: 40,840,252	T319S	probably benign	Het
Slc7a15	G	T	12: 8,538,895	N217K	probably damaging	Het
Stmn1	A	G	4: 134,470,777	K42E	probably damaging	Het
Tbl2	T	G	5: 135,149,828	W31G	probably benign	Het
Tmem8b	T	C	4: 43,669,845	C114R	possibly damaging	Het
Tsc2	T	C	17: 24,613,280	S711G	probably benign	Het
Ttn	T	C	2: 76,836,560	R11531G	unknown	Het
Ube2e3	T	C	2: 78,913,741	Y105H	probably benign	Het
Usp16	G	T	16: 87,483,171	C753F	probably benign	Het
Vmn1r13	T	C	6: 57,210,254	S133P	possibly damaging	Het
Vmn2r76	T	A	7: 86,228,767	Q474L	probably benign	Het
Vps52	T	C	17: 33,965,288	I601T	probably benign	Het
Wasf1	A	T	10: 40,926,591	T81S	possibly damaging	Het
Wdr82	A	G	9: 106,171,333	S39G	probably benign	Het
Zdhhc13	A	G	7: 48,801,332	I108V	probably benign	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
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'- GCATGATGACATAGGCTTCAC -3'
(R):5'- TCAGTACTCCACGTGGCTTG -3'

Sequencing Primer
(F):5'- GATGACATAGGCTTCACAGTTACC -3'
(R):5'- CATGTTCTTGGGGCTGCAGC -3'

Posted On

2019-08-29