Mutagenetix > Incidental Mutation

Incidental Mutation 'R0521:Capn5'

48540

Institutional Source

Beutler Lab

Gene Symbol

Capn5

Ensembl Gene

ENSMUSG00000035547

Gene Name

calpain 5

Synonyms

MMRRC Submission

038714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0521 (G1)

Quality Score

134

Status

Not validated

Chromosome

Chromosomal Location

97770766-97827481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 97782089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 217 (R217Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102729 (fasta)

Gene Model

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

AlphaFold

O08688

Predicted Effect

probably damaging
Transcript: ENSMUST00000040971
AA Change: R217Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048183
Gene: ENSMUSG00000035547
AA Change: R217Q

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 damaging
Transcript: ENSMUST00000107112
AA Change: R217Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102729
Gene: ENSMUSG00000035547
AA Change: R217Q

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: 98.4%
10x: 96.5%
20x: 93.3%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	T	4: 144,182,464 (GRCm39)	S335T	probably damaging	Het
Abcb1b	G	A	5: 8,914,238 (GRCm39)	A1203T	probably damaging	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Agt	C	A	8: 125,283,839 (GRCm39)	E427*	probably null	Het
Angel1	G	A	12: 86,769,681 (GRCm39)	S193F	probably benign	Het
Ankrd16	T	C	2: 11,794,692 (GRCm39)	V359A	probably benign	Het
Ankrd33b	T	C	15: 31,367,432 (GRCm39)	D36G	probably damaging	Het
Ano8	A	T	8: 71,931,902 (GRCm39)	C766S	probably benign	Het
Asic1	C	T	15: 99,596,700 (GRCm39)	R499C	probably damaging	Het
Atpsckmt	T	G	15: 31,606,103 (GRCm39)	S20R	probably benign	Het
Bank1	C	T	3: 135,919,703 (GRCm39)	C364Y	probably damaging	Het
Bmerb1	T	A	16: 13,804,676 (GRCm39)	S8T	possibly damaging	Het
Bpifa5	C	A	2: 154,008,869 (GRCm39)	D223E	probably benign	Het
Ccm2	G	A	11: 6,540,886 (GRCm39)	S184N	probably damaging	Het
Ces5a	T	A	8: 94,252,286 (GRCm39)	D202V	probably damaging	Het
Clasrp	A	G	7: 19,322,528 (GRCm39)	I284T	probably benign	Het
Cog7	C	A	7: 121,540,392 (GRCm39)		probably null	Het
Col13a1	A	T	10: 61,698,525 (GRCm39)	M512K	unknown	Het
Cps1	A	C	1: 67,254,723 (GRCm39)	D1304A	probably benign	Het
Crhbp	C	A	13: 95,580,403 (GRCm39)		probably null	Het
Ctdspl2	T	A	2: 121,837,368 (GRCm39)	C377*	probably null	Het
Ctsl	G	A	13: 64,513,032 (GRCm39)	L297F	possibly damaging	Het
Ddost	A	G	4: 138,038,046 (GRCm39)	T262A	probably benign	Het
Ddx4	A	T	13: 112,761,313 (GRCm39)		probably null	Het
Ddx54	A	G	5: 120,764,927 (GRCm39)	I769V	probably benign	Het
Dock1	T	A	7: 134,745,507 (GRCm39)	I1463N	probably benign	Het
Dsg3	T	A	18: 20,660,872 (GRCm39)	Y404N	possibly damaging	Het
Epb42	T	A	2: 120,859,631 (GRCm39)	K186*	probably null	Het
Farp2	A	G	1: 93,504,543 (GRCm39)		probably null	Het
Fbxl9	A	T	8: 106,039,425 (GRCm39)	L617Q	probably damaging	Het
Fev	C	A	1: 74,921,692 (GRCm39)	R86L	possibly damaging	Het
Foxb2	G	T	19: 16,849,820 (GRCm39)	C395*	probably null	Het
Foxn3	A	G	12: 99,175,765 (GRCm39)	V261A	probably benign	Het
Fsd1	A	G	17: 56,298,245 (GRCm39)	D190G	probably benign	Het
Gm9930	A	T	10: 9,410,547 (GRCm39)		noncoding transcript	Het
Gsdma2	A	T	11: 98,545,727 (GRCm39)	K260*	probably null	Het
Hdac7	G	A	15: 97,704,380 (GRCm39)	Q497*	probably null	Het
Hic1	G	A	11: 75,057,713 (GRCm39)	P392L	possibly damaging	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Ifna6	G	T	4: 88,745,887 (GRCm39)	V79F	probably benign	Het
Il20ra	A	T	10: 19,635,388 (GRCm39)	Q543L	probably damaging	Het
Itk	T	A	11: 46,251,115 (GRCm39)	D163V	probably damaging	Het
Kcnu1	T	G	8: 26,400,916 (GRCm39)	L688R	probably damaging	Het
Kdm5b	T	A	1: 134,545,771 (GRCm39)	S977R	possibly damaging	Het
Kng1	G	A	16: 22,879,232 (GRCm39)	A45T	possibly damaging	Het
Map1a	T	G	2: 121,136,234 (GRCm39)	L2350R	probably damaging	Het
Mdfic	A	G	6: 15,799,755 (GRCm39)	D212G	probably benign	Het
Ms4a1	C	A	19: 11,236,043 (GRCm39)		probably null	Het
Myo9a	T	A	9: 59,801,635 (GRCm39)	F1944L	probably damaging	Het
Nbea	A	T	3: 55,915,689 (GRCm39)	W928R	probably damaging	Het
Nfatc2ip	T	G	7: 125,995,751 (GRCm39)	D46A	possibly damaging	Het
Ngly1	C	T	14: 16,290,774 (GRCm38)	Q419*	probably null	Het
Nsd2	T	A	5: 34,000,682 (GRCm39)	N66K	probably damaging	Het
Nsmce4a	T	C	7: 130,138,732 (GRCm39)	H304R	probably damaging	Het
Odad2	G	A	18: 7,222,676 (GRCm39)	P531L	possibly damaging	Het
Or10a2	T	A	7: 106,673,965 (GRCm39)	L310Q	possibly damaging	Het
Or2y11	C	T	11: 49,443,291 (GRCm39)	T239M	probably damaging	Het
Or4a2	T	C	2: 89,248,544 (GRCm39)	Y71C	probably damaging	Het
Or51v8	T	A	7: 103,319,696 (GRCm39)	I181F	possibly damaging	Het
Or7e168	G	A	9: 19,720,156 (GRCm39)	V181I	probably benign	Het
Or8c20	A	C	9: 38,260,499 (GRCm39)	N40T	probably damaging	Het
Or8h9	C	T	2: 86,789,190 (GRCm39)	G204D	probably damaging	Het
Peg3	T	C	7: 6,714,427 (GRCm39)	E265G	probably damaging	Het
Pkd1	A	G	17: 24,814,193 (GRCm39)	S4188G	probably benign	Het
Pramel32	A	T	4: 88,547,559 (GRCm39)	N37K	probably damaging	Het
R3hdm1	G	A	1: 128,121,440 (GRCm39)	V315I	probably benign	Het
Rab24	A	T	13: 55,468,738 (GRCm39)		probably null	Het
Rap1gap2	A	T	11: 74,332,592 (GRCm39)	M71K	probably damaging	Het
Rergl	T	G	6: 139,473,524 (GRCm39)	K42T	probably damaging	Het
Septin5	T	C	16: 18,443,647 (GRCm39)	T92A	probably benign	Het
Setdb1	A	G	3: 95,246,140 (GRCm39)	V595A	probably benign	Het
Slc17a8	A	G	10: 89,412,192 (GRCm39)	S414P	probably benign	Het
Thnsl2	A	T	6: 71,111,243 (GRCm39)	D208E	probably damaging	Het
Tie1	A	C	4: 118,333,343 (GRCm39)	I841R	probably damaging	Het
Tll1	T	G	8: 64,551,505 (GRCm39)	D292A	probably damaging	Het
Tnfaip8l1	A	T	17: 56,478,727 (GRCm39)	T6S	probably damaging	Het
Trim17	T	A	11: 58,859,320 (GRCm39)	V178E	probably damaging	Het
Ttc27	A	T	17: 75,163,544 (GRCm39)	R717S	possibly damaging	Het
Upk2	G	T	9: 44,365,418 (GRCm39)	P50Q	probably damaging	Het
Usp9y	A	T	Y: 1,307,880 (GRCm39)	C2319S	probably benign	Het
Vmn2r100	A	T	17: 19,742,178 (GRCm39)	D184V	probably damaging	Het
Vmn2r9	C	A	5: 108,996,154 (GRCm39)	G165*	probably null	Het
Xkr6	A	T	14: 64,056,871 (GRCm39)	I261F	probably benign	Het
Xpnpep3	T	G	15: 81,311,693 (GRCm39)	I133S	possibly damaging	Het
Yipf1	A	G	4: 107,193,387 (GRCm39)	Y91C	probably benign	Het
Zfp442	T	C	2: 150,253,169 (GRCm39)	D31G	possibly damaging	Het
Zfp628	A	T	7: 4,922,939 (GRCm39)	Q387L	probably damaging	Het
Zfp804a	C	T	2: 82,089,761 (GRCm39)	Q1197*	probably null	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	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
R1459:Capn5	UTSW	7	97,781,049 (GRCm39)	missense	possibly damaging	0.84
R2005:Capn5	UTSW	7	97,778,570 (GRCm39)	missense	probably benign
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'- ACTTAAAGGGACGAGAGACTCCCTG -3'
(R):5'- AAGATTCAGACCTGCCTGGAGACC -3'

Sequencing Primer
(F):5'- TATCTCAAAGGCTGGGACAC -3'
(R):5'- TGCCTGGAGACCTGAGC -3'

Posted On

2013-06-12