Mutagenetix > Incidental Mutation

Incidental Mutation 'R4777:Capn5'

368020

Institutional Source

Beutler Lab

Gene Symbol

Capn5

Ensembl Gene

ENSMUSG00000035547

Gene Name

calpain 5

Synonyms

MMRRC Submission

041992-MU

Accession Numbers

Essential gene?

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

Stock #

R4777 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

97770766-97827481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97780925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 284 (N284I)

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: N284I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048183
Gene: ENSMUSG00000035547
AA Change: N284I

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: N284I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102729
Gene: ENSMUSG00000035547
AA Change: N284I

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: 98.4%
10x: 96.7%
20x: 93.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,503 (GRCm39)	S231R	probably benign	Het
5730455P16Rik	A	T	11: 80,265,041 (GRCm39)	I137N	probably damaging	Het
Abhd10	G	A	16: 45,557,279 (GRCm39)	Q176*	probably null	Het
Acer3	T	C	7: 97,910,804 (GRCm39)	Y86C	probably damaging	Het
Ankrd36	T	C	11: 5,557,120 (GRCm39)	V356A	probably benign	Het
Atp1a1	A	G	3: 101,502,312 (GRCm39)		probably null	Het
Bmp8b	G	A	4: 123,015,793 (GRCm39)	R260Q	possibly damaging	Het
C2cd3	T	A	7: 100,065,539 (GRCm39)	V775D	possibly damaging	Het
Cacna1b	T	A	2: 24,622,337 (GRCm39)	I216F	probably damaging	Het
Cbr1	C	A	16: 93,406,942 (GRCm39)	D219E	probably benign	Het
Cdca2	C	T	14: 67,950,589 (GRCm39)	R114Q	probably damaging	Het
Cdh20	G	A	1: 109,922,055 (GRCm39)	W49*	probably null	Het
Cep152	C	T	2: 125,406,015 (GRCm39)	V1506I	probably benign	Het
Cfap97	C	T	8: 46,648,334 (GRCm39)	Q537*	probably null	Het
Cpsf2	T	A	12: 101,963,091 (GRCm39)	V385E	probably damaging	Het
Dse	A	G	10: 34,029,584 (GRCm39)	V502A	possibly damaging	Het
Fam171a1	T	A	2: 3,224,550 (GRCm39)	F300L	probably benign	Het
Fnip1	T	G	11: 54,391,382 (GRCm39)	N438K	probably damaging	Het
Fstl5	C	T	3: 76,500,807 (GRCm39)	T412M	probably damaging	Het
Gm11938	T	A	11: 99,494,059 (GRCm39)	Q12L	unknown	Het
Hcls1	G	T	16: 36,775,678 (GRCm39)	A171S	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hydin	G	T	8: 111,137,096 (GRCm39)	C633F	probably damaging	Het
Ica1	A	T	6: 8,644,145 (GRCm39)	D381E	probably benign	Het
Ift74	A	G	4: 94,541,234 (GRCm39)	K220E	probably benign	Het
Igfn1	A	T	1: 135,882,600 (GRCm39)	D2748E	probably benign	Het
Il16	A	C	7: 83,300,104 (GRCm39)	D396E	probably benign	Het
Impdh1	G	T	6: 29,205,201 (GRCm39)	A200E	possibly damaging	Het
Itga4	C	T	2: 79,144,054 (GRCm39)	T647I	possibly damaging	Het
Jpt1	A	T	11: 115,391,497 (GRCm39)	M104K	probably benign	Het
Krt73	C	A	15: 101,702,436 (GRCm39)	A476S	probably benign	Het
Lama3	T	C	18: 12,546,828 (GRCm39)	Y363H	probably damaging	Het
Lgr4	C	T	2: 109,827,027 (GRCm39)	P177L	probably damaging	Het
Lrp2	T	C	2: 69,312,608 (GRCm39)	D2560G	probably damaging	Het
Ly6m	T	C	15: 74,752,532 (GRCm39)	N48S	probably benign	Het
Macf1	A	T	4: 123,270,295 (GRCm39)	F6617I	probably damaging	Het
Mcf2l	T	A	8: 13,068,051 (GRCm39)		probably null	Het
Mcub	T	A	3: 129,763,600 (GRCm39)	Q42L	probably damaging	Het
Mfsd9	C	T	1: 40,820,700 (GRCm39)	V150I	possibly damaging	Het
Myo15b	T	C	11: 115,770,478 (GRCm39)	V96A	probably damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or10aa3	T	G	1: 173,878,244 (GRCm39)	Y102D	probably damaging	Het
Or10g6	T	C	9: 39,933,994 (GRCm39)	F102L	possibly damaging	Het
Or1r1	A	G	11: 73,875,221 (GRCm39)	V71A	probably benign	Het
Pgap6	T	C	17: 26,340,515 (GRCm39)	V633A	probably damaging	Het
Pinlyp	T	A	7: 24,241,568 (GRCm39)	I153F	possibly damaging	Het
Plk2	A	C	13: 110,534,307 (GRCm39)	M296L	probably benign	Het
Plvap	T	C	8: 71,960,630 (GRCm39)	Y262C	probably benign	Het
Ppfia3	C	A	7: 44,990,581 (GRCm39)	G1066V	probably damaging	Het
Prokr1	A	G	6: 87,565,842 (GRCm39)	M1T	probably null	Het
Ptgs2	G	T	1: 149,981,138 (GRCm39)	A474S	probably benign	Het
Pth2r	A	G	1: 65,427,676 (GRCm39)	T450A	possibly damaging	Het
Ranbp6	A	T	19: 29,789,037 (GRCm39)	F438L	probably damaging	Het
Ripor1	A	T	8: 106,341,622 (GRCm39)	Q102L	probably damaging	Het
Rprd2	C	T	3: 95,694,686 (GRCm39)	V116I	probably benign	Het
Sacs	T	C	14: 61,449,258 (GRCm39)	V3768A	probably damaging	Het
Scn8a	T	C	15: 100,913,832 (GRCm39)	Y1075H	probably damaging	Het
Senp3	C	T	11: 69,569,063 (GRCm39)	G366D	probably damaging	Het
Smim1	T	C	4: 154,108,107 (GRCm39)		probably benign	Het
Sptan1	A	G	2: 29,886,447 (GRCm39)	I817V	probably damaging	Het
Stag3	A	T	5: 138,307,461 (GRCm39)		probably benign	Het
Stk17b	A	T	1: 53,810,867 (GRCm39)	H79Q	probably damaging	Het
Svil	A	G	18: 5,088,813 (GRCm39)	K1296E	probably damaging	Het
Tmem117	T	A	15: 94,992,331 (GRCm39)	Y330*	probably null	Het
Tnxb	G	T	17: 34,890,917 (GRCm39)	R420L	probably damaging	Het
Trim9	C	A	12: 70,393,845 (GRCm39)	C33F	probably damaging	Het
Usp29	A	C	7: 6,965,747 (GRCm39)	Y530S	probably benign	Het
Vps26b	T	C	9: 26,921,752 (GRCm39)	T258A	possibly damaging	Het
Vrtn	C	A	12: 84,695,600 (GRCm39)	H117N	probably damaging	Het
Wdr33	C	T	18: 32,014,301 (GRCm39)	H388Y	probably damaging	Het
Zfp451	A	T	1: 33,821,186 (GRCm39)	V222D	possibly damaging	Het
Zfp953	A	G	13: 67,491,193 (GRCm39)	I253T	probably benign	Het
Zfy2	A	G	Y: 2,116,194 (GRCm39)	V282A	probably benign	Het
Zscan29	A	T	2: 120,999,805 (GRCm39)	V132D	probably damaging	Het
Zswim4	G	T	8: 84,963,586 (GRCm39)	D16E	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
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
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
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'- ACTGTCCTTGATGAACCTACCC -3'
(R):5'- GTTTAGATCCCAGTGTGACCC -3'

Sequencing Primer
(F):5'- GCACCACACTTACACTGGAAAG -3'
(R):5'- TAGATCCCAGTGTGACCCTCCTG -3'

Posted On

2015-12-29