Mutagenetix > Incidental Mutation

Incidental Mutation 'R2005:Capn5'

225371

Institutional Source

Beutler Lab

Gene Symbol

Capn5

Ensembl Gene

ENSMUSG00000035547

Gene Name

calpain 5

Synonyms

MMRRC Submission

040014-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97770766-97827481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97778570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 350 (I350V)

Ref Sequence

ENSEMBL: ENSMUSP00000102729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040971] [ENSMUST00000107112]

AlphaFold

O08688

Predicted Effect

probably benign
Transcript: ENSMUST00000040971
AA Change: I350V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048183
Gene: ENSMUSG00000035547
AA Change: I350V

Domain	Start	End	E-Value	Type
CysPc	8	351	4.18e-212	SMART
calpain_III	353	496	1.21e-66	SMART
C2	518	619	1.29e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107112
AA Change: I350V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102729
Gene: ENSMUSG00000035547
AA Change: I350V

Domain	Start	End	E-Value	Type
CysPc	8	351	4.18e-212	SMART
calpain_III	353	496	1.21e-66	SMART
C2	518	619	1.29e-9	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the calpain family of proteins. Unlike many members of the calpain gene family, this gene lacks a calmodulin-like domain, required for calcium binding. Mouse models for Huntington's disease displayed increased levels of the protein encoded by this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for one allele of this gene occasionally exhibit reduced viability but are usually normal. Homozygotes for another allele die as embryos. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,841,562 (GRCm39)	A961V	probably benign	Het
Adcy10	A	G	1: 165,352,591 (GRCm39)	Y475C	probably benign	Het
Adgrb3	T	C	1: 25,150,799 (GRCm39)	M1145V	probably benign	Het
Akr1c21	A	G	13: 4,624,214 (GRCm39)	T23A	probably damaging	Het
Ankrd33b	A	T	15: 31,297,814 (GRCm39)	S314R	probably damaging	Het
Apc	T	C	18: 34,443,962 (GRCm39)		probably null	Het
Atg9a	T	A	1: 75,162,635 (GRCm39)	Q460L	probably benign	Het
Birc2	C	T	9: 7,860,342 (GRCm39)	C292Y	probably damaging	Het
Cc2d2a	G	A	5: 43,883,715 (GRCm39)		probably null	Het
Cdh22	T	A	2: 165,022,843 (GRCm39)	E76V	probably damaging	Het
Cdh8	T	C	8: 99,760,103 (GRCm39)		probably null	Het
Cdkn1b	ATTCTTCTTC	ATTCTTCTTCTTC	6: 134,898,919 (GRCm39)		probably benign	Het
Cfap54	T	A	10: 92,720,630 (GRCm39)	D2608V	unknown	Het
Crebrf	T	C	17: 26,961,857 (GRCm39)	V318A	possibly damaging	Het
Cwf19l2	A	T	9: 3,430,720 (GRCm39)	N351Y	possibly damaging	Het
Cyp2c67	A	T	19: 39,631,789 (GRCm39)	M136K	probably damaging	Het
Ddx10	A	G	9: 53,151,775 (GRCm39)		probably null	Het
Ddx47	A	G	6: 134,995,084 (GRCm39)	N92S	probably benign	Het
Ddx50	T	A	10: 62,476,243 (GRCm39)	H306L	probably benign	Het
Dnajc27	A	G	12: 4,147,317 (GRCm39)	T167A	possibly damaging	Het
Dscam	T	G	16: 96,840,120 (GRCm39)	K162N	probably benign	Het
Eif4h	G	A	5: 134,656,531 (GRCm39)	T53I	probably benign	Het
Elmo2	T	C	2: 165,140,199 (GRCm39)	N332S	probably benign	Het
Ergic3	A	G	2: 155,853,028 (GRCm39)	N157S	possibly damaging	Het
F2rl1	G	T	13: 95,649,782 (GRCm39)	R367S	probably damaging	Het
Fbxo36	G	A	1: 84,877,790 (GRCm39)	A151T	probably benign	Het
Foxf2	G	T	13: 31,810,124 (GRCm39)	R21L	unknown	Het
Gmip	T	A	8: 70,266,693 (GRCm39)	H269Q	probably benign	Het
Gng4	T	A	13: 13,980,751 (GRCm39)	V32E	probably benign	Het
Grm3	T	C	5: 9,639,793 (GRCm39)	Y84C	possibly damaging	Het
Helz2	C	T	2: 180,873,122 (GRCm39)	R2396H	probably benign	Het
Icosl	A	T	10: 77,907,787 (GRCm39)	M116L	possibly damaging	Het
Itgb3bp	A	C	4: 99,702,295 (GRCm39)	N16K	probably benign	Het
Kcnt2	A	G	1: 140,480,756 (GRCm39)	M824V	probably damaging	Het
Mki67	T	A	7: 135,300,238 (GRCm39)	K1599*	probably null	Het
Mmp25	G	A	17: 23,859,216 (GRCm39)	R144W	probably damaging	Het
Mmrn1	A	T	6: 60,953,068 (GRCm39)	I450F	possibly damaging	Het
Mroh2b	A	T	15: 4,946,640 (GRCm39)	K480M	probably damaging	Het
Nbn	T	A	4: 15,979,351 (GRCm39)	D445E	probably benign	Het
Npbwr1	T	A	1: 5,986,570 (GRCm39)	S315C	probably damaging	Het
Or10ag56	T	A	2: 87,139,792 (GRCm39)	S240T	probably benign	Het
Or1e19	A	T	11: 73,316,065 (GRCm39)	V248E	probably damaging	Het
Or5d38	A	G	2: 87,954,891 (GRCm39)	L146P	probably damaging	Het
Or7g16	G	A	9: 18,726,801 (GRCm39)	S263L	probably benign	Het
Pard3b	A	T	1: 62,184,050 (GRCm39)	E183D	probably benign	Het
Pde10a	G	A	17: 9,147,923 (GRCm39)		probably null	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Prdm13	T	C	4: 21,685,695 (GRCm39)		probably benign	Het
Rc3h2	T	A	2: 37,279,765 (GRCm39)	K461*	probably null	Het
Reep2	C	T	18: 34,978,674 (GRCm39)	T117M	probably damaging	Het
Rhbdd1	A	G	1: 82,318,531 (GRCm39)	N138S	probably benign	Het
Rnf19a	A	T	15: 36,241,916 (GRCm39)	F708I	possibly damaging	Het
Robo2	G	A	16: 73,730,003 (GRCm39)	H1069Y	possibly damaging	Het
Rpl9	C	T	5: 65,546,878 (GRCm39)	V112I	probably benign	Het
Sec16a	A	C	2: 26,329,092 (GRCm39)	S974R	probably benign	Het
Sfrp5	A	G	19: 42,187,275 (GRCm39)	M265T	probably benign	Het
Skint7	T	C	4: 111,842,047 (GRCm39)	I305T	probably benign	Het
Slc6a7	T	C	18: 61,134,713 (GRCm39)	D454G	possibly damaging	Het
Slco6c1	A	G	1: 97,009,214 (GRCm39)	I407T	probably damaging	Het
Slfn8	A	T	11: 82,894,976 (GRCm39)	M610K	probably damaging	Het
Spidr	A	G	16: 15,865,913 (GRCm39)	S299P	probably damaging	Het
Sptbn4	C	T	7: 27,065,844 (GRCm39)	W2034*	probably null	Het
Stard9	T	A	2: 120,495,426 (GRCm39)	F100L	possibly damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stc1	T	C	14: 69,269,096 (GRCm39)		probably null	Het
Sun2	T	C	15: 79,610,825 (GRCm39)	E667G	possibly damaging	Het
Tacc2	T	C	7: 130,333,280 (GRCm39)	S511P	probably damaging	Het
Tasp1	T	G	2: 139,819,598 (GRCm39)	K202Q	probably damaging	Het
Tdrd6	A	G	17: 43,939,546 (GRCm39)	F501L	probably damaging	Het
Tgds	A	G	14: 118,368,068 (GRCm39)	V35A	possibly damaging	Het
Tubgcp6	G	A	15: 88,988,369 (GRCm39)	T860I	probably benign	Het
Twf1	C	T	15: 94,483,328 (GRCm39)		probably null	Het
Vangl1	A	G	3: 102,070,782 (GRCm39)	S385P	probably benign	Het
Vmn2r117	A	G	17: 23,696,618 (GRCm39)	I263T	probably damaging	Het
Washc5	A	G	15: 59,213,004 (GRCm39)	L892P	possibly damaging	Het
Wnk4	T	C	11: 101,154,716 (GRCm39)	C302R	probably damaging	Het
Zfp395	A	G	14: 65,626,334 (GRCm39)	E191G	possibly damaging	Het
Zkscan17	A	G	11: 59,383,042 (GRCm39)	L302P	probably damaging	Het

Other mutations in Capn5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01019:Capn5	APN	7	97,784,971 (GRCm39)	missense	probably damaging	1.00
IGL01311:Capn5	APN	7	97,811,130 (GRCm39)	missense	probably damaging	1.00
IGL01768:Capn5	APN	7	97,774,480 (GRCm39)	missense	probably damaging	1.00
IGL01926:Capn5	APN	7	97,777,679 (GRCm39)	critical splice donor site	probably null
IGL02076:Capn5	APN	7	97,780,950 (GRCm39)	nonsense	probably null
IGL02505:Capn5	APN	7	97,780,403 (GRCm39)	missense	possibly damaging	0.85
BB007:Capn5	UTSW	7	97,773,085 (GRCm39)	missense	probably benign
BB017:Capn5	UTSW	7	97,773,085 (GRCm39)	missense	probably benign
PIT4466001:Capn5	UTSW	7	97,773,195 (GRCm39)	missense	probably benign	0.00
R0178:Capn5	UTSW	7	97,782,098 (GRCm39)	missense	probably damaging	1.00
R0518:Capn5	UTSW	7	97,782,089 (GRCm39)	missense	probably damaging	1.00
R0521:Capn5	UTSW	7	97,782,089 (GRCm39)	missense	probably damaging	1.00
R1459:Capn5	UTSW	7	97,781,049 (GRCm39)	missense	possibly damaging	0.84
R2258:Capn5	UTSW	7	97,785,082 (GRCm39)	missense	probably damaging	0.99
R2327:Capn5	UTSW	7	97,775,574 (GRCm39)	missense	probably benign	0.07
R3797:Capn5	UTSW	7	97,775,036 (GRCm39)	missense	probably null	0.77
R4032:Capn5	UTSW	7	97,778,453 (GRCm39)	missense	probably damaging	0.96
R4620:Capn5	UTSW	7	97,778,578 (GRCm39)	missense	probably damaging	0.98
R4717:Capn5	UTSW	7	97,773,126 (GRCm39)	missense	probably benign	0.02
R4777:Capn5	UTSW	7	97,780,925 (GRCm39)	missense	probably damaging	1.00
R4823:Capn5	UTSW	7	97,775,648 (GRCm39)	missense	probably damaging	1.00
R4841:Capn5	UTSW	7	97,780,879 (GRCm39)	splice site	probably null
R4965:Capn5	UTSW	7	97,775,624 (GRCm39)	missense	probably damaging	0.99
R5568:Capn5	UTSW	7	97,775,137 (GRCm39)	missense	probably damaging	1.00
R5732:Capn5	UTSW	7	97,778,593 (GRCm39)	missense	possibly damaging	0.95
R5792:Capn5	UTSW	7	97,780,402 (GRCm39)	missense	probably benign	0.09
R6892:Capn5	UTSW	7	97,785,148 (GRCm39)	missense	probably damaging	1.00
R6923:Capn5	UTSW	7	97,778,461 (GRCm39)	missense	probably damaging	1.00
R7095:Capn5	UTSW	7	97,775,038 (GRCm39)	missense	probably benign	0.10
R7391:Capn5	UTSW	7	97,780,426 (GRCm39)	missense	probably benign	0.02
R7553:Capn5	UTSW	7	97,773,231 (GRCm39)	missense	probably damaging	1.00
R7930:Capn5	UTSW	7	97,773,085 (GRCm39)	missense	probably benign
R8876:Capn5	UTSW	7	97,780,902 (GRCm39)	missense	probably benign	0.01
R8914:Capn5	UTSW	7	97,784,997 (GRCm39)	missense	probably damaging	0.99
R9012:Capn5	UTSW	7	97,814,050 (GRCm39)	start gained	probably benign
R9087:Capn5	UTSW	7	97,775,531 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGTCACTCAGGTCCATGG -3'
(R):5'- ACACGTACATTCTTGTTTTGCTCAG -3'

Sequencing Primer
(F):5'- TCACTCAGGTCCATGGCTGAC -3'
(R):5'- GGTTCATCCCATTTTACAGATGAGG -3'

Posted On

2014-08-25