Mutagenetix > Incidental Mutation

Incidental Mutation 'R7819:Capn3'

601722

Institutional Source

Beutler Lab

Gene Symbol

Capn3

Ensembl Gene

ENSMUSG00000079110

Gene Name

calpain 3

Synonyms

Capa3, Lp82, Capa-3, p94

MMRRC Submission

045873-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R7819 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120294074-120335400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120294646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 98 (V98A)

Ref Sequence

ENSEMBL: ENSMUSP00000028749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028749] [ENSMUST00000110721] [ENSMUST00000135074]

AlphaFold

Q64691

Predicted Effect

probably benign
Transcript: ENSMUST00000028749
AA Change: V98A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028749
Gene: ENSMUSG00000079110
AA Change: V98A

Domain	Start	End	E-Value	Type
CysPc	56	425	2.09e-212	SMART
calpain_III	428	582	4.27e-90	SMART
Pfam:Calpain_u2	583	653	1.3e-31	PFAM
EFh	696	724	5.53e-4	SMART
EFh	726	754	1.8e-3	SMART
EFh	791	819	4.32e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110721
AA Change: V98A

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

SMART Domains

Protein: ENSMUSP00000106349
Gene: ENSMUSG00000079110
AA Change: V98A

Domain	Start	End	E-Value	Type
CysPc	56	377	1.13e-208	SMART
calpain_III	380	534	4.27e-90	SMART
EFh	604	632	5.53e-4	SMART
EFh	634	662	1.8e-3	SMART
EFh	699	727	4.32e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135074

SMART Domains

Protein: ENSMUSP00000116898
Gene: ENSMUSG00000062646

Domain	Start	End	E-Value	Type
low complexity region	30	44	N/A	INTRINSIC
Pfam:Gal_mutarotas_2	221	292	2.3e-21	PFAM
Pfam:Glyco_hydro_31	333	778	2.5e-137	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in muscle dystrophy. The psoas, soleus, and deltoid muscles are the most severely affected. The mutant allele appears to be preferentially transmitted resulting in ratio distortion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	G	6: 52,156,254 (GRCm39)		probably benign	Het
Abcg3	T	C	5: 105,125,594 (GRCm39)	T30A	probably benign	Het
Adra1b	A	T	11: 43,726,194 (GRCm39)	V241D	probably damaging	Het
Ahctf1	A	T	1: 179,595,880 (GRCm39)	N170K	probably benign	Het
Ahr	A	G	12: 35,559,999 (GRCm39)	L218P	probably damaging	Het
Apol8	C	T	15: 77,633,959 (GRCm39)	V206M	probably damaging	Het
Arhgap11a	T	A	2: 113,665,263 (GRCm39)		probably null	Het
B3galnt1	T	C	3: 69,483,108 (GRCm39)	Y51C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Casp12	T	C	9: 5,352,805 (GRCm39)	L209P	probably damaging	Het
Ccdc96	A	T	5: 36,643,329 (GRCm39)	Q445L	probably damaging	Het
Cdc37	A	G	9: 21,052,260 (GRCm39)	S301P	probably damaging	Het
Cep89	A	T	7: 35,131,968 (GRCm39)	H634L	probably benign	Het
Cert1	A	T	13: 96,765,575 (GRCm39)	T447S	possibly damaging	Het
Cfap251	A	G	5: 123,392,322 (GRCm39)		probably benign	Het
Chmp3	T	A	6: 71,538,008 (GRCm39)	Y12*	probably null	Het
Clgn	A	T	8: 84,134,829 (GRCm39)	I156F	possibly damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Crb2	T	A	2: 37,681,603 (GRCm39)	N815K	probably benign	Het
Crppa	A	G	12: 36,431,902 (GRCm39)	T44A	probably benign	Het
Csgalnact2	A	C	6: 118,098,050 (GRCm39)	L97V	possibly damaging	Het
Ctsh	T	A	9: 89,942,556 (GRCm39)	M37K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,058,718 (GRCm39)	E394G	probably damaging	Het
Ddx31	T	G	2: 28,782,463 (GRCm39)	L602R	probably damaging	Het
Defb40	T	A	8: 19,025,050 (GRCm39)	Y52F	probably benign	Het
Dip2a	A	G	10: 76,126,862 (GRCm39)	V710A	probably benign	Het
Dnah2	T	C	11: 69,407,419 (GRCm39)	I150V	probably benign	Het
Eln	A	T	5: 134,766,035 (GRCm39)	L56Q	unknown	Het
Ezh1	T	C	11: 101,085,740 (GRCm39)	N639S	probably damaging	Het
Fzd3	A	G	14: 65,472,775 (GRCm39)	F331S	probably damaging	Het
Gbp9	T	C	5: 105,251,745 (GRCm39)	T68A	possibly damaging	Het
Gltp	A	G	5: 114,812,161 (GRCm39)	M104T	probably benign	Het
Gmps	G	A	3: 63,893,048 (GRCm39)	V118M	probably damaging	Het
Gpsm1	T	C	2: 26,229,705 (GRCm39)	L42P	probably damaging	Het
Hsfy2	T	A	1: 56,675,418 (GRCm39)	H373L	probably benign	Het
Ica1l	A	T	1: 60,054,953 (GRCm39)	F93I	possibly damaging	Het
Idh1	A	G	1: 65,204,277 (GRCm39)	S278P	probably damaging	Het
Ighmbp2	C	T	19: 3,317,276 (GRCm39)	G532D	possibly damaging	Het
Ikbkb	A	G	8: 23,161,742 (GRCm39)	L382S	probably benign	Het
Il1rap	T	A	16: 26,541,151 (GRCm39)	M464K	possibly damaging	Het
Ing2	G	A	8: 48,122,063 (GRCm39)	R162C	probably damaging	Het
Ints1	A	T	5: 139,746,522 (GRCm39)	L1275H	probably damaging	Het
Itga1	T	C	13: 115,185,837 (GRCm39)	E55G	probably damaging	Het
Itih4	T	C	14: 30,623,620 (GRCm39)	F930L	probably benign	Het
Kcnh8	A	G	17: 53,263,743 (GRCm39)	T747A	probably benign	Het
Kit	A	G	5: 75,806,592 (GRCm39)	E699G	probably benign	Het
Lamc3	T	C	2: 31,811,775 (GRCm39)	S921P	probably benign	Het
Lrrc63	TGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGC	14: 75,362,661 (GRCm39)		probably benign	Het
Map10	TCAGTTGTCCAG	TCAG	8: 126,397,260 (GRCm39)		probably null	Het
Map2k5	T	C	9: 63,265,300 (GRCm39)	E76G	probably damaging	Het
Mgat3	G	T	15: 80,095,973 (GRCm39)	E267*	probably null	Het
Nhsl3	A	G	4: 129,116,276 (GRCm39)	V841A	probably benign	Het
Npepps	C	A	11: 97,139,095 (GRCm39)	G159V	probably damaging	Het
Nrap	A	G	19: 56,323,720 (GRCm39)	V1284A	probably benign	Het
Or10a3	T	A	7: 108,480,610 (GRCm39)	I68F	probably damaging	Het
Or6c66b	A	T	10: 129,376,562 (GRCm39)	H52L	probably benign	Het
Oxgr1	T	C	14: 120,260,281 (GRCm39)		probably null	Het
Pcdhb18	T	C	18: 37,624,308 (GRCm39)	L546P	possibly damaging	Het
Pcdhga5	G	A	18: 37,829,633 (GRCm39)	V694M	probably damaging	Het
Pde9a	A	T	17: 31,679,174 (GRCm39)	I255F	possibly damaging	Het
Pi4k2a	G	A	19: 42,079,013 (GRCm39)	G25R	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ppp1r37	A	G	7: 19,267,989 (GRCm39)	I302T	probably damaging	Het
Prkar2a	T	A	9: 108,622,744 (GRCm39)	Y311N	probably damaging	Het
Prkd3	A	T	17: 79,279,930 (GRCm39)	D254E	probably benign	Het
Prmt9	T	C	8: 78,294,973 (GRCm39)	V439A	probably benign	Het
Ptpra	T	C	2: 130,346,126 (GRCm39)	S96P	probably benign	Het
Rnf103	A	G	6: 71,485,914 (GRCm39)	T182A	probably benign	Het
Rpusd4	A	G	9: 35,179,228 (GRCm39)	S15G	probably benign	Het
Sco1	A	G	11: 66,949,219 (GRCm39)	Y229C	probably damaging	Het
Skint5	T	A	4: 113,417,032 (GRCm39)	Q1139L	unknown	Het
Slc16a12	A	G	19: 34,652,579 (GRCm39)	V189A	probably damaging	Het
Slfn8	T	G	11: 82,895,081 (GRCm39)	N575T	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Stard9	T	C	2: 120,531,465 (GRCm39)	L2574P	probably damaging	Het
Syn3	A	T	10: 85,891,404 (GRCm39)		probably benign	Het
Tspo2	A	T	17: 48,756,985 (GRCm39)	D32E	probably damaging	Het
Vmn1r72	A	G	7: 11,403,552 (GRCm39)	F299L	probably benign	Het
Xbp1	G	A	11: 5,474,886 (GRCm39)	M262I	probably benign	Het
Zfp354b	G	A	11: 50,814,632 (GRCm39)	Q98*	probably null	Het
Zfp582	A	C	7: 6,357,165 (GRCm39)	H326P	probably damaging	Het

Other mutations in Capn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Capn3	APN	2	120,316,963 (GRCm39)	intron	probably benign
IGL00976:Capn3	APN	2	120,322,382 (GRCm39)	missense	possibly damaging	0.81
IGL01538:Capn3	APN	2	120,332,667 (GRCm39)	splice site	probably null
IGL01564:Capn3	APN	2	120,311,189 (GRCm39)	missense	probably damaging	1.00
IGL02527:Capn3	APN	2	120,334,966 (GRCm39)	missense	probably damaging	0.99
IGL02605:Capn3	APN	2	120,326,518 (GRCm39)	missense	probably damaging	0.98
IGL02678:Capn3	APN	2	120,333,479 (GRCm39)	missense	probably damaging	1.00
IGL02899:Capn3	APN	2	120,322,382 (GRCm39)	missense	possibly damaging	0.81
IGL03255:Capn3	APN	2	120,320,189 (GRCm39)	missense	probably damaging	1.00
R0053:Capn3	UTSW	2	120,322,318 (GRCm39)	missense	possibly damaging	0.95
R0053:Capn3	UTSW	2	120,322,318 (GRCm39)	missense	possibly damaging	0.95
R0096:Capn3	UTSW	2	120,333,010 (GRCm39)	missense	possibly damaging	0.94
R0096:Capn3	UTSW	2	120,333,010 (GRCm39)	missense	possibly damaging	0.94
R0276:Capn3	UTSW	2	120,318,546 (GRCm39)	splice site	probably benign
R0601:Capn3	UTSW	2	120,333,077 (GRCm39)	splice site	probably null
R0714:Capn3	UTSW	2	120,322,361 (GRCm39)	missense	probably benign	0.32
R1217:Capn3	UTSW	2	120,316,902 (GRCm39)	nonsense	probably null
R1530:Capn3	UTSW	2	120,312,689 (GRCm39)	missense	probably damaging	1.00
R1566:Capn3	UTSW	2	120,333,474 (GRCm39)	missense	possibly damaging	0.72
R1745:Capn3	UTSW	2	120,320,170 (GRCm39)	missense	possibly damaging	0.87
R1748:Capn3	UTSW	2	120,327,494 (GRCm39)	missense	probably benign	0.10
R1861:Capn3	UTSW	2	120,316,963 (GRCm39)	intron	probably benign
R1960:Capn3	UTSW	2	120,294,421 (GRCm39)	missense	probably benign	0.00
R1971:Capn3	UTSW	2	120,311,228 (GRCm39)	missense	possibly damaging	0.95
R1994:Capn3	UTSW	2	120,326,418 (GRCm39)	missense	probably damaging	1.00
R2043:Capn3	UTSW	2	120,322,382 (GRCm39)	missense	possibly damaging	0.81
R2254:Capn3	UTSW	2	120,331,732 (GRCm39)	missense	probably benign	0.01
R2255:Capn3	UTSW	2	120,331,732 (GRCm39)	missense	probably benign	0.01
R3738:Capn3	UTSW	2	120,315,768 (GRCm39)	missense	possibly damaging	0.85
R3824:Capn3	UTSW	2	120,314,964 (GRCm39)	splice site	probably benign
R4796:Capn3	UTSW	2	120,333,479 (GRCm39)	missense	probably damaging	1.00
R5073:Capn3	UTSW	2	120,322,301 (GRCm39)	missense	probably damaging	1.00
R5116:Capn3	UTSW	2	120,315,773 (GRCm39)	missense	probably benign	0.00
R5152:Capn3	UTSW	2	120,331,811 (GRCm39)	intron	probably benign
R5420:Capn3	UTSW	2	120,325,777 (GRCm39)	intron	probably benign
R5478:Capn3	UTSW	2	120,294,666 (GRCm39)	splice site	probably null
R5506:Capn3	UTSW	2	120,332,901 (GRCm39)	missense	probably damaging	0.97
R5664:Capn3	UTSW	2	120,307,506 (GRCm39)	missense	probably benign	0.04
R5733:Capn3	UTSW	2	120,315,075 (GRCm39)	nonsense	probably null
R6212:Capn3	UTSW	2	120,307,667 (GRCm39)	missense	probably benign	0.17
R7176:Capn3	UTSW	2	120,334,973 (GRCm39)	missense	possibly damaging	0.46
R7219:Capn3	UTSW	2	120,333,935 (GRCm39)	missense	probably damaging	0.99
R7365:Capn3	UTSW	2	120,325,295 (GRCm39)	missense	probably damaging	0.98
R8052:Capn3	UTSW	2	120,316,867 (GRCm39)	missense	probably benign
R8834:Capn3	UTSW	2	120,294,534 (GRCm39)	missense	probably damaging	0.98
R8970:Capn3	UTSW	2	120,294,566 (GRCm39)	missense	possibly damaging	0.90
R9088:Capn3	UTSW	2	120,321,451 (GRCm39)	missense	probably benign
R9473:Capn3	UTSW	2	120,326,535 (GRCm39)	nonsense	probably null
R9512:Capn3	UTSW	2	120,326,535 (GRCm39)	missense	probably damaging	0.99
R9663:Capn3	UTSW	2	120,316,859 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAAGTGGCATCTATTCGGC -3'
(R):5'- ACTTTCATGAACAGCAGAAAGC -3'

Sequencing Primer
(F):5'- GGCATCTATTCGGCCATCATTAG -3'
(R):5'- TGAGAGAAGCAGCCCTGACC -3'

Posted On

2019-12-03