Mutagenetix > Incidental Mutation

Incidental Mutation 'R6923:Capn5'

539734

Institutional Source

Beutler Lab

Gene Symbol

Capn5

Ensembl Gene

ENSMUSG00000035547

Gene Name

calpain 5

Synonyms

MMRRC Submission

045381-MU

Accession Numbers

Essential gene?

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

Stock #

R6923 (G1)

Quality Score

148.008

Status

Validated

Chromosome

Chromosomal Location

97770766-97827481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97778461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 386 (Q386L)

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: Q386L

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

SMART Domains

Protein: ENSMUSP00000048183
Gene: ENSMUSG00000035547
AA Change: Q386L

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: Q386L

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

SMART Domains

Protein: ENSMUSP00000102729
Gene: ENSMUSG00000035547
AA Change: Q386L

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

Meta Mutation Damage Score

0.2926

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Albfm1	A	G	5: 90,725,652 (GRCm39)	N288S	probably benign	Het
Ap4b1	T	A	3: 103,719,530 (GRCm39)	D81E	probably benign	Het
Atg16l1	A	T	1: 87,702,078 (GRCm39)		probably null	Het
Atp11a	A	G	8: 12,906,949 (GRCm39)	T459A	probably damaging	Het
Bloc1s5	T	A	13: 38,815,040 (GRCm39)	I40F	probably damaging	Het
Bltp2	T	A	11: 78,165,452 (GRCm39)	S1323T	possibly damaging	Het
Cbfa2t2	C	T	2: 154,376,903 (GRCm39)	H529Y	probably damaging	Het
Cd3d	T	C	9: 44,897,157 (GRCm39)		probably benign	Het
Cenpa	A	G	5: 30,829,806 (GRCm39)		probably null	Het
Chit1	A	T	1: 134,077,163 (GRCm39)	Y322F	probably null	Het
Cntnap5c	T	A	17: 58,399,345 (GRCm39)	N399K	possibly damaging	Het
Dock8	A	T	19: 25,072,970 (GRCm39)	T417S	probably benign	Het
Firrm	A	G	1: 163,814,454 (GRCm39)		probably null	Het
Fkbp2	A	G	19: 6,956,537 (GRCm39)			Het
Fsip1	G	A	2: 118,080,394 (GRCm39)	R121C	probably benign	Het
Gbp2b	T	C	3: 142,306,320 (GRCm39)	I131T	probably benign	Het
Gm12695	T	C	4: 96,658,053 (GRCm39)	N39D	probably benign	Het
Gm4922	T	C	10: 18,659,616 (GRCm39)	R369G	probably damaging	Het
Gpatch3	C	T	4: 133,309,836 (GRCm39)	L390F	probably damaging	Het
Gpd2	G	A	2: 57,245,800 (GRCm39)	M443I	probably damaging	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hdac1-ps	A	G	17: 78,800,343 (GRCm39)	T445A	possibly damaging	Het
Jph3	A	G	8: 122,480,110 (GRCm39)	T263A	possibly damaging	Het
Me3	C	A	7: 89,495,093 (GRCm39)	A337E	probably damaging	Het
Mndal	A	C	1: 173,712,264 (GRCm39)		probably null	Het
Msantd5l	C	T	11: 51,144,808 (GRCm39)	D158N	probably damaging	Het
Muc6	C	T	7: 141,217,453 (GRCm39)	E2342K	possibly damaging	Het
Neb	A	G	2: 52,076,076 (GRCm39)	V5659A	probably damaging	Het
Nkapd1	T	A	9: 50,521,610 (GRCm39)	I104L	probably benign	Het
Nrxn1	G	A	17: 91,395,661 (GRCm39)	A165V	probably benign	Het
Or5b94	T	A	19: 12,652,409 (GRCm39)	I280N	possibly damaging	Het
Or5b97	T	C	19: 12,878,676 (GRCm39)	N156S	probably benign	Het
Orc2	A	G	1: 58,539,534 (GRCm39)	L35S	probably benign	Het
Pax4	A	G	6: 28,447,118 (GRCm39)		probably null	Het
Pcdhb7	C	T	18: 37,475,522 (GRCm39)		probably null	Het
Pla2r1	C	T	2: 60,345,310 (GRCm39)	E349K	probably benign	Het
Polr2a	C	T	11: 69,626,787 (GRCm39)	A1516T	probably benign	Het
Pramel23	A	T	4: 143,425,676 (GRCm39)	I89N	probably benign	Het
Prpf38a	G	T	4: 108,427,401 (GRCm39)	D187E	possibly damaging	Het
Rdh16f1	T	A	10: 127,624,737 (GRCm39)		probably null	Het
S100z	T	A	13: 95,615,090 (GRCm39)	D25V	probably damaging	Het
Scamp2	T	G	9: 57,488,895 (GRCm39)	F199V	probably damaging	Het
Semp2l2b	C	A	10: 21,943,654 (GRCm39)	G109C	probably damaging	Het
Senp2	T	G	16: 21,830,326 (GRCm39)		probably benign	Het
Sltm	T	A	9: 70,481,892 (GRCm39)	S365T	probably damaging	Het
Smg6	C	G	11: 74,820,169 (GRCm39)	P147A	possibly damaging	Het
Spem2	T	A	11: 69,708,603 (GRCm39)	R121W	probably damaging	Het
Sufu	A	G	19: 46,439,405 (GRCm39)		probably null	Het
Syt2	T	C	1: 134,674,501 (GRCm39)	V313A	possibly damaging	Het
Tet2	C	T	3: 133,185,102 (GRCm39)		probably null	Het
Tfeb	T	A	17: 48,097,908 (GRCm39)	I232N	probably benign	Het
Ticrr	T	G	7: 79,341,601 (GRCm39)	I1062M	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vrk2	G	A	11: 26,439,893 (GRCm39)	A226V	probably damaging	Het
Wnk1	A	T	6: 119,942,639 (GRCm39)		probably benign	Het
Xpo4	G	T	14: 57,841,168 (GRCm39)	T505K	probably benign	Het
Yy1	A	T	12: 108,759,594 (GRCm39)	I86F	probably benign	Het
Zc3h15	A	G	2: 83,487,400 (GRCm39)	D73G	possibly 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
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
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'- TTCCTCATTGTGACCATATGCAG -3'
(R):5'- TGCCTTCCTGCACTTAGGATG -3'

Sequencing Primer
(F):5'- CATTGTGACCATATGCAGGGCAG -3'
(R):5'- CACTTAGGATGACCTTTGAGGAC -3'

Posted On

2018-11-06