Mutagenetix > Incidental Mutations

Incidental Mutation 'R8194:Capn11'

635374

Institutional Source

Beutler Lab

Gene Symbol

Capn11

Ensembl Gene

ENSMUSG00000058626

Gene Name

calpain 11

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45630204-45659325 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45633399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 526 (D526E)

Ref Sequence

ENSEMBL: ENSMUSP00000113132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120717]

AlphaFold

Q6J756

Predicted Effect

probably damaging
Transcript: ENSMUST00000120717
AA Change: D526E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113132
Gene: ENSMUSG00000058626
AA Change: D526E

Domain	Start	End	E-Value	Type
CysPc	37	362	2.75e-157	SMART
calpain_III	366	523	2.57e-84	SMART
EFh	590	618	3.91e-4	SMART
EFh	620	648	6.88e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230046K03Rik	A	G	10: 83,580,299	I818V	possibly damaging	Het
Arid4a	T	A	12: 71,060,115	Y320*	probably null	Het
Ash1l	T	A	3: 89,052,755	C2265S	probably damaging	Het
Atg4b	T	A	1: 93,785,972	C55*	probably null	Het
Cacna1s	A	T	1: 136,077,692	N405I	probably benign	Het
Ccdc188	A	G	16: 18,218,380	R71G	probably benign	Het
Ccser2	G	A	14: 36,896,263	R772W	probably damaging	Het
Cenpf	T	A	1: 189,682,403	E172D	probably benign	Het
Cep85	T	C	4: 134,134,089	M627V	probably null	Het
Chd1	G	A	17: 17,374,475		probably benign	Het
Cnst	A	G	1: 179,610,194	H441R	probably benign	Het
Cyp2d11	G	T	15: 82,390,437	T313N	probably damaging	Het
Cyp2g1	A	G	7: 26,814,734	N255S	possibly damaging	Het
Dnah5	A	G	15: 28,453,268	D4395G	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 76,002,775		probably benign	Het
Fcnb	C	T	2: 28,078,318	S209N	possibly damaging	Het
Gpsm1	CT	CTT	2: 26,327,352		probably null	Het
Lama4	A	G	10: 39,078,720	S1090G	probably damaging	Het
Malrd1	A	G	2: 15,925,120	D1479G	unknown	Het
Man2a2	T	C	7: 80,361,018	K742E	probably benign	Het
Mapk8	A	T	14: 33,382,284	S392T	probably benign	Het
Mark3	T	C	12: 111,592,683	I53T	probably damaging	Het
Mcmdc2	A	G	1: 9,916,642	I219V	probably benign	Het
Mlycd	A	T	8: 119,407,593	E278V	probably benign	Het
Muc2	G	T	7: 141,704,252	C29F		Het
Mup20	T	C	4: 62,053,484	I77V	probably benign	Het
Myh3	A	G	11: 67,092,002	E849G	probably damaging	Het
Nedd4	A	G	9: 72,686,107	N154S	probably damaging	Het
Olfr397	A	T	11: 73,965,414	I269F	probably benign	Het
Pcdh7	A	T	5: 57,720,336	N411I	probably damaging	Het
Plekhm1	A	G	11: 103,395,060	I183T	possibly damaging	Het
Prkar2a	G	A	9: 108,692,511	V19M	probably damaging	Het
Prss35	T	G	9: 86,755,613	N145K	possibly damaging	Het
Ranbp2	T	A	10: 58,455,925	D251E	possibly damaging	Het
Rnf169	C	A	7: 99,926,444	V315F	probably damaging	Het
Slc32a1	T	C	2: 158,613,841	Y139H	probably damaging	Het
Slc5a2	T	C	7: 128,271,156	V522A	probably benign	Het
Slc6a6	A	T	6: 91,740,971	Q297L	probably damaging	Het
Sos2	A	C	12: 69,598,824	Y914D	probably damaging	Het
Spata1	G	T	3: 146,489,859	T32N	possibly damaging	Het
Srcap	C	T	7: 127,539,197	R1180C	probably damaging	Het
St14	A	T	9: 31,131,625	M1K	probably null	Het
Tcaf1	T	C	6: 42,675,302	T749A	probably benign	Het
Tcp1	T	C	17: 12,922,734		probably null	Het
Tle6	A	G	10: 81,591,054	V576A	probably damaging	Het
Ttc25	G	A	11: 100,563,676	G429E	probably benign	Het
Usp17lc	T	A	7: 103,418,200	M234K	probably benign	Het
Zdhhc18	A	G	4: 133,613,854	L236P	probably damaging	Het
Zfp266	T	C	9: 20,500,314	D189G	probably benign	Het
Zfp474	A	T	18: 52,639,157	D294V	probably damaging	Het
Zfp568	T	C	7: 30,023,333	F568L	probably damaging	Het
Zfp93	A	G	7: 24,276,054	K488R	probably benign	Het

Other mutations in Capn11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Capn11	APN	17	45643767	missense	probably damaging	1.00
IGL01116:Capn11	APN	17	45638880	unclassified	probably benign
IGL01121:Capn11	APN	17	45639132	missense	probably benign	0.04
IGL01366:Capn11	APN	17	45653200	missense	probably damaging	1.00
IGL01533:Capn11	APN	17	45632904	missense	probably benign
IGL01595:Capn11	APN	17	45639434	missense	probably benign	0.02
IGL02197:Capn11	APN	17	45639856	missense	probably benign	0.14
IGL02683:Capn11	APN	17	45653591	missense	probably damaging	1.00
IGL02696:Capn11	APN	17	45632709	missense	probably damaging	1.00
IGL02711:Capn11	APN	17	45632415	missense	probably damaging	1.00
IGL02900:Capn11	APN	17	45630614	splice site	probably null
IGL03033:Capn11	APN	17	45642547	missense	probably damaging	1.00
R0883:Capn11	UTSW	17	45638881	unclassified	probably benign
R1494:Capn11	UTSW	17	45643809	missense	probably damaging	1.00
R1735:Capn11	UTSW	17	45632401	nonsense	probably null
R1785:Capn11	UTSW	17	45638697	missense	probably benign	0.02
R1952:Capn11	UTSW	17	45642959	missense	probably damaging	1.00
R2149:Capn11	UTSW	17	45633107	critical splice acceptor site	probably null
R2397:Capn11	UTSW	17	45653221	missense	probably damaging	1.00
R2495:Capn11	UTSW	17	45638763	missense	probably damaging	0.97
R2516:Capn11	UTSW	17	45633799	missense	probably damaging	0.98
R3934:Capn11	UTSW	17	45634287	splice site	probably benign
R4016:Capn11	UTSW	17	45653756	missense	probably damaging	1.00
R4226:Capn11	UTSW	17	45642466	critical splice donor site	probably null
R4227:Capn11	UTSW	17	45642466	critical splice donor site	probably null
R4774:Capn11	UTSW	17	45633080	missense	probably benign	0.00
R4892:Capn11	UTSW	17	45633097	frame shift	probably null
R5244:Capn11	UTSW	17	45633892	missense	probably damaging	1.00
R5667:Capn11	UTSW	17	45639674	missense	possibly damaging	0.87
R5671:Capn11	UTSW	17	45639674	missense	possibly damaging	0.87
R5991:Capn11	UTSW	17	45659352	splice site	probably null
R6180:Capn11	UTSW	17	45630766	missense	probably damaging	1.00
R6193:Capn11	UTSW	17	45653504	critical splice donor site	probably null
R6774:Capn11	UTSW	17	45657330	intron	probably benign
R7047:Capn11	UTSW	17	45638696	nonsense	probably null
R7302:Capn11	UTSW	17	45643812	missense	probably damaging	1.00
R7516:Capn11	UTSW	17	45638840	missense	possibly damaging	0.95
R7563:Capn11	UTSW	17	45633965	missense	probably damaging	0.99
R7718:Capn11	UTSW	17	45643781	missense	probably damaging	1.00
R7999:Capn11	UTSW	17	45639206	missense	probably damaging	1.00
R8058:Capn11	UTSW	17	45643755	missense	probably null	1.00
R8737:Capn11	UTSW	17	45632875	missense	probably benign	0.01
R8989:Capn11	UTSW	17	45643857	missense	probably damaging	1.00
R9037:Capn11	UTSW	17	45639431	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCGGTCTTTAAAACACCCTCC -3'
(R):5'- TTCACGGAAACTGAGGCACG -3'

Sequencing Primer
(F):5'- CAGATTTCTGAGTTCGAGGCCAC -3'
(R):5'- TTACTGGGAACTGAACTCTGGACC -3'

Posted On

2020-07-13