Mutagenetix > Incidental Mutation

Incidental Mutation 'R2258:Capn5'

243539

Institutional Source

Beutler Lab

Gene Symbol

Capn5

Ensembl Gene

ENSMUSG00000035547

Gene Name

calpain 5

Synonyms

MMRRC Submission

040258-MU

Accession Numbers

Essential gene?

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

Stock #

R2258 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97770766-97827481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97785082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 131 (W131R)

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: W131R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048183
Gene: ENSMUSG00000035547
AA Change: W131R

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: W131R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102729
Gene: ENSMUSG00000035547
AA Change: W131R

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,267 (GRCm39)	N308S	possibly damaging	Het
Acot5	A	T	12: 84,122,643 (GRCm39)	H409L	possibly damaging	Het
Ang4	A	G	14: 52,001,955 (GRCm39)		probably benign	Het
Ap3d1	A	G	10: 80,556,966 (GRCm39)	S315P	probably benign	Het
Arhgap15	G	A	2: 44,276,359 (GRCm39)	G437R	probably damaging	Het
Cacna2d1	T	C	5: 16,562,287 (GRCm39)	C810R	probably damaging	Het
Ccnj	A	G	19: 40,834,277 (GRCm39)	Q292R	probably benign	Het
Cd177	A	G	7: 24,455,661 (GRCm39)	V287A	possibly damaging	Het
Cdk5r2	T	C	1: 74,895,059 (GRCm39)	L268P	probably damaging	Het
Cfap251	C	G	5: 123,421,411 (GRCm39)		probably null	Het
Clrn2	A	G	5: 45,611,304 (GRCm39)	D51G	probably benign	Het
Cntd1	T	C	11: 101,175,682 (GRCm39)	S174P	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Col17a1	C	T	19: 47,669,816 (GRCm39)		probably null	Het
Cyp2a5	A	G	7: 26,536,528 (GRCm39)	D169G	possibly damaging	Het
Cyp2c37	A	G	19: 39,984,303 (GRCm39)	I264V	possibly damaging	Het
Cyp2j12	A	G	4: 96,021,315 (GRCm39)	I97T	probably damaging	Het
Dipk1b	T	C	2: 26,525,162 (GRCm39)	L157P	probably damaging	Het
Eif3b	T	C	5: 140,413,258 (GRCm39)	F354L	possibly damaging	Het
Eif4a3l1	A	T	6: 136,305,559 (GRCm39)	M7L	probably benign	Het
Entpd2	C	T	2: 25,288,099 (GRCm39)	P108S	probably damaging	Het
F5	T	A	1: 164,019,750 (GRCm39)	S742T	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fndc3b	G	T	3: 27,494,309 (GRCm39)	Q939K	possibly damaging	Het
Gja4	C	A	4: 127,206,623 (GRCm39)	D47Y	probably damaging	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpbar1	T	C	1: 74,318,164 (GRCm39)	F136L	probably benign	Het
Gsn	G	A	2: 35,180,349 (GRCm39)	G130E	probably damaging	Het
Hecw1	A	T	13: 14,490,723 (GRCm39)	D756E	probably benign	Het
Hrc	C	A	7: 44,986,105 (GRCm39)	R419S	possibly damaging	Het
Inpp4a	T	A	1: 37,416,777 (GRCm39)	S433T	probably damaging	Het
Ism2	C	A	12: 87,326,848 (GRCm39)	V320L	possibly damaging	Het
Krt8	G	T	15: 101,907,257 (GRCm39)	D275E	probably benign	Het
Lgalsl2	A	G	7: 5,362,401 (GRCm39)	M11V	probably benign	Het
Lyg2	A	C	1: 37,948,077 (GRCm39)	N132K	probably benign	Het
Lyst	G	A	13: 13,812,243 (GRCm39)	R885Q	probably benign	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mcc	C	A	18: 44,608,203 (GRCm39)	G355W	probably damaging	Het
Mllt6	T	C	11: 97,555,802 (GRCm39)	V44A	probably damaging	Het
Mrgpra3	A	T	7: 47,239,842 (GRCm39)	M28K	probably benign	Het
Ms4a15	A	G	19: 10,962,159 (GRCm39)	C47R	probably benign	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo18b	C	T	5: 113,022,529 (GRCm39)		probably benign	Het
Nat8f4	A	T	6: 85,878,207 (GRCm39)	H105Q	possibly damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Nrap	T	C	19: 56,310,394 (GRCm39)	R1534G	possibly damaging	Het
Nwd2	C	A	5: 63,962,499 (GRCm39)	N694K	probably benign	Het
Oas1c	G	A	5: 120,941,082 (GRCm39)	A35V	probably null	Het
Or2d3b	A	G	7: 106,514,113 (GRCm39)	K236R	probably damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or5p58	C	T	7: 107,694,402 (GRCm39)	R125H	possibly damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pate8	C	A	9: 36,493,161 (GRCm39)	V54L	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Plaat5	C	T	19: 7,590,111 (GRCm39)	R46C	probably damaging	Het
Polr1f	A	G	12: 33,483,587 (GRCm39)	H113R	probably damaging	Het
Prex1	C	T	2: 166,429,077 (GRCm39)	V839I	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Rbm20	T	C	19: 53,840,172 (GRCm39)	S1054P	probably benign	Het
Rhox13	G	C	X: 37,210,221 (GRCm39)	E19Q	unknown	Het
Ryr2	A	G	13: 11,753,102 (GRCm39)	F1740L	possibly damaging	Het
Sox1	C	A	8: 12,446,927 (GRCm39)	N189K	possibly damaging	Het
Spta1	C	A	1: 174,001,907 (GRCm39)	S12R	possibly damaging	Het
Stard13	A	G	5: 150,963,196 (GRCm39)	L971P	probably damaging	Het
Tigd4	T	A	3: 84,501,600 (GRCm39)	N172K	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Vldlr	A	G	19: 27,215,786 (GRCm39)	D220G	probably damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Wdr25	T	A	12: 108,864,100 (GRCm39)	S82T	possibly damaging	Het
Wnk4	C	A	11: 101,165,861 (GRCm39)	P796Q	probably damaging	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het
Zc3h15	G	A	2: 83,487,360 (GRCm39)	V60I	probably benign	Het
Zfp629	G	A	7: 127,210,963 (GRCm39)	T282M	probably damaging	Het
Zscan22	T	G	7: 12,637,887 (GRCm39)	V93G	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
R2005:Capn5	UTSW	7	97,778,570 (GRCm39)	missense	probably benign
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'- AACTCAGTCTGGCCATCCTAC -3'
(R):5'- CGCAGTGAAAGGATGAACTCC -3'

Sequencing Primer
(F):5'- GTCTGGCCATCCTACTCAGACAG -3'
(R):5'- GGATGAACTCCAGTACTCTCG -3'

Posted On

2014-10-16