Mutagenetix > Incidental Mutation

Incidental Mutation 'R1861:Capn3'

203871

Institutional Source

Beutler Lab

Gene Symbol

Capn3

Ensembl Gene

ENSMUSG00000079110

Gene Name

calpain 3

Synonyms

Capa3, Lp82, Capa-3, p94

MMRRC Submission

039884-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R1861 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120294074-120335400 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 120316963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028748] [ENSMUST00000028749] [ENSMUST00000090028] [ENSMUST00000110716] [ENSMUST00000110719] [ENSMUST00000110721]

AlphaFold

Q64691

Predicted Effect

probably benign
Transcript: ENSMUST00000028748

SMART Domains

Protein: ENSMUSP00000028748
Gene: ENSMUSG00000079110

Domain	Start	End	E-Value	Type
CysPc	32	357	5.98e-199	SMART
calpain_III	360	514	4.27e-90	SMART
EFh	584	612	5.53e-4	SMART
EFh	614	642	1.8e-3	SMART
EFh	679	707	4.32e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000028749

SMART Domains

Protein: ENSMUSP00000028749
Gene: ENSMUSG00000079110

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: ENSMUST00000090028

SMART Domains

Protein: ENSMUSP00000087482
Gene: ENSMUSG00000079110

Domain	Start	End	E-Value	Type
CysPc	32	357	5.98e-199	SMART
calpain_III	360	514	4.27e-90	SMART
low complexity region	585	599	N/A	INTRINSIC
EFh	612	640	5.53e-4	SMART
EFh	642	670	1.8e-3	SMART
EFh	707	735	4.32e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110716

SMART Domains

Protein: ENSMUSP00000106344
Gene: ENSMUSG00000079110

Domain	Start	End	E-Value	Type
CysPc	32	405	8.38e-203	SMART
calpain_III	408	562	4.27e-90	SMART
EFh	632	660	5.53e-4	SMART
EFh	662	690	1.8e-3	SMART
EFh	727	755	4.32e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110719

SMART Domains

Protein: ENSMUSP00000106347
Gene: ENSMUSG00000079110

Domain	Start	End	E-Value	Type
CysPc	32	405	8.38e-203	SMART
calpain_III	408	562	4.27e-90	SMART
low complexity region	633	647	N/A	INTRINSIC
EFh	660	688	5.53e-4	SMART
EFh	690	718	1.8e-3	SMART
EFh	755	783	4.32e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110721

SMART Domains

Protein: ENSMUSP00000106349
Gene: ENSMUSG00000079110

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

noncoding transcript
Transcript: ENSMUST00000124129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145993

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (117/121)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	C	A	9: 89,034,884 (GRCm39)		noncoding transcript	Het
Abra	C	A	15: 41,732,430 (GRCm39)	R212L	probably damaging	Het
Actr1a	T	C	19: 46,372,714 (GRCm39)	E87G	probably damaging	Het
Adam26a	A	G	8: 44,022,578 (GRCm39)	V304A	possibly damaging	Het
Alg2	T	A	4: 47,471,670 (GRCm39)	K379N	probably benign	Het
Alk	G	T	17: 72,181,933 (GRCm39)		probably benign	Het
Aopep	A	G	13: 63,163,597 (GRCm39)	Y206C	probably damaging	Het
Arhgef17	A	G	7: 100,531,475 (GRCm39)	Y331H	probably damaging	Het
Art3	A	G	5: 92,560,094 (GRCm39)		probably benign	Het
Asap1	G	A	15: 64,007,647 (GRCm39)		probably benign	Het
Atad2	A	T	15: 57,960,114 (GRCm39)		probably null	Het
Atp8b5	G	A	4: 43,372,906 (GRCm39)	R1150H	probably damaging	Het
Bltp2	C	T	11: 78,178,755 (GRCm39)		probably benign	Het
Brdt	T	C	5: 107,507,324 (GRCm39)	S575P	probably benign	Het
Casd1	T	A	6: 4,640,951 (GRCm39)	Y691N	probably damaging	Het
Ccdc127	T	G	13: 74,505,098 (GRCm39)	H215Q	possibly damaging	Het
Cenpe	T	C	3: 134,974,740 (GRCm39)	L2300P	probably damaging	Het
Clasp1	T	C	1: 118,498,661 (GRCm39)	F898L	possibly damaging	Het
Clcn1	C	A	6: 42,290,925 (GRCm39)	P933Q	possibly damaging	Het
Cntn3	T	A	6: 102,222,032 (GRCm39)	N489I	probably benign	Het
Col16a1	T	C	4: 129,955,517 (GRCm39)		probably benign	Het
Col24a1	G	A	3: 145,243,022 (GRCm39)		probably null	Het
Col8a2	C	T	4: 126,205,417 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,675,208 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,522,588 (GRCm39)	C2694S	probably damaging	Het
Cyp2c40	T	C	19: 39,775,319 (GRCm39)	Y311C	probably benign	Het
Dennd5b	T	A	6: 148,969,760 (GRCm39)	N231I	probably damaging	Het
Dgkh	T	A	14: 78,816,232 (GRCm39)	H936L	probably benign	Het
Dmtf1	T	C	5: 9,170,347 (GRCm39)		probably null	Het
Dnai2	T	C	11: 114,643,777 (GRCm39)	V481A	possibly damaging	Het
Dnai3	T	C	3: 145,788,801 (GRCm39)	Y260C	probably damaging	Het
Dpyd	T	G	3: 118,710,780 (GRCm39)	V396G	probably damaging	Het
Elmo3	A	G	8: 106,035,213 (GRCm39)	D448G	probably damaging	Het
Emsy	A	T	7: 98,290,822 (GRCm39)	V100E	probably damaging	Het
Erbb2	T	C	11: 98,303,563 (GRCm39)		probably null	Het
Faah	T	C	4: 115,865,432 (GRCm39)	K85R	probably benign	Het
Fam149a	A	T	8: 45,792,399 (GRCm39)	Y686*	probably null	Het
Fat4	T	C	3: 39,064,633 (GRCm39)	V4863A	probably benign	Het
Fbxl8	A	G	8: 105,995,561 (GRCm39)	T358A	probably damaging	Het
Fcgbpl1	A	G	7: 27,854,157 (GRCm39)	Y1707C	probably damaging	Het
Fgfr3	A	G	5: 33,887,090 (GRCm39)	T165A	probably damaging	Het
Fnbp1l	A	T	3: 122,354,581 (GRCm39)	H180Q	probably damaging	Het
Gm8180	T	A	14: 44,021,196 (GRCm39)	H4L	probably benign	Het
Gon4l	T	C	3: 88,802,794 (GRCm39)	V1135A	probably damaging	Het
Gstcd	G	T	3: 132,688,868 (GRCm39)	N627K	probably damaging	Het
Gtf2a1l	G	A	17: 89,022,382 (GRCm39)	V458I	probably damaging	Het
Gtf3c3	T	C	1: 54,477,997 (GRCm39)	E26G	possibly damaging	Het
Hrct1	A	T	4: 43,727,404 (GRCm39)	T15S	probably benign	Het
Ift122	C	A	6: 115,868,889 (GRCm39)	R459S	probably damaging	Het
Irf1	T	A	11: 53,665,183 (GRCm39)	C187S	possibly damaging	Het
Kcnh7	A	G	2: 62,607,736 (GRCm39)	V615A	probably damaging	Het
Kif1c	T	C	11: 70,594,168 (GRCm39)	S61P	probably damaging	Het
Mamdc2	T	C	19: 23,336,517 (GRCm39)	T331A	probably damaging	Het
Mark2	T	C	19: 7,268,128 (GRCm39)	D25G	possibly damaging	Het
Me2	T	C	18: 73,918,785 (GRCm39)	D432G	probably benign	Het
Mfap3	T	C	11: 57,419,032 (GRCm39)	V64A	probably benign	Het
Nadk2	T	A	15: 9,108,399 (GRCm39)	M416K	probably benign	Het
Ndufs1	C	T	1: 63,186,576 (GRCm39)	G631D	probably benign	Het
Nomo1	G	A	7: 45,727,525 (GRCm39)	V1055I	probably benign	Het
Nuggc	T	A	14: 65,879,450 (GRCm39)		probably benign	Het
Nwd2	T	C	5: 63,962,197 (GRCm39)	S594P	probably damaging	Het
Or13c3	T	A	4: 52,856,373 (GRCm39)	I47L	probably benign	Het
Or4a27	T	G	2: 88,559,674 (GRCm39)	I90L	probably damaging	Het
Or4b1b	C	A	2: 90,112,502 (GRCm39)	C139F	probably damaging	Het
Or5b113	T	A	19: 13,342,705 (GRCm39)	S238T	possibly damaging	Het
Or6p1	T	C	1: 174,258,657 (GRCm39)	I221T	probably damaging	Het
Or8c10	C	T	9: 38,278,902 (GRCm39)	S10L	probably benign	Het
Pakap	A	G	4: 57,709,468 (GRCm39)	I138V	probably damaging	Het
Pcyt2	G	A	11: 120,501,968 (GRCm39)	P332S	probably benign	Het
Phaf1	A	G	8: 105,966,703 (GRCm39)	E150G	probably null	Het
Phf14	A	T	6: 11,987,610 (GRCm39)	M630L	probably benign	Het
Piezo1	T	C	8: 123,222,489 (GRCm39)	N919S	possibly damaging	Het
Pif1	A	T	9: 65,496,735 (GRCm39)	I283F	probably damaging	Het
Pknox2	G	A	9: 36,834,957 (GRCm39)	H171Y	probably damaging	Het
Pramel17	A	T	4: 101,694,135 (GRCm39)	D249E	probably benign	Het
Prkg2	T	A	5: 99,095,275 (GRCm39)	D632V	probably damaging	Het
Prr29	G	A	11: 106,266,264 (GRCm39)	A6T	probably damaging	Het
Rims1	T	A	1: 22,635,639 (GRCm39)	Y114F	probably damaging	Het
Ryr1	A	T	7: 28,708,977 (GRCm39)	D4796E	unknown	Het
Scnn1b	G	A	7: 121,513,484 (GRCm39)	C399Y	probably damaging	Het
Scp2	T	C	4: 107,948,518 (GRCm39)	Y153C	probably damaging	Het
Sema3d	A	G	5: 12,547,570 (GRCm39)	K164R	probably benign	Het
Siglecf	A	G	7: 43,001,648 (GRCm39)	T153A	probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Skint2	T	C	4: 112,504,315 (GRCm39)		probably benign	Het
Slc22a8	G	A	19: 8,583,503 (GRCm39)	R236H	probably damaging	Het
Slc25a40	T	A	5: 8,492,431 (GRCm39)		probably null	Het
Slc26a5	T	C	5: 22,021,956 (GRCm39)	D490G	possibly damaging	Het
Slc26a7	G	T	4: 14,522,873 (GRCm39)	D482E	probably benign	Het
Smarca2	A	T	19: 26,601,284 (GRCm39)	M77L	probably benign	Het
Sos2	A	G	12: 69,664,137 (GRCm39)	L449P	probably damaging	Het
Spaca1	A	G	4: 34,044,206 (GRCm39)	V96A	probably damaging	Het
Spata31d1b	T	A	13: 59,865,150 (GRCm39)	I766N	possibly damaging	Het
Specc1l	T	C	10: 75,145,693 (GRCm39)	Y1113H	probably damaging	Het
Speg	A	G	1: 75,365,649 (GRCm39)	R677G	probably damaging	Het
Taf5l	A	T	8: 124,724,729 (GRCm39)	D363E	probably damaging	Het
Tex56	A	T	13: 35,116,490 (GRCm39)	I80F	possibly damaging	Het
Tmem208	A	G	8: 106,061,438 (GRCm39)	K155E	possibly damaging	Het
Tppp2	A	C	14: 52,158,062 (GRCm39)	N169T	probably benign	Het
Trrap	T	A	5: 144,752,727 (GRCm39)		probably null	Het
Ttll6	T	A	11: 96,029,700 (GRCm39)	Y204*	probably null	Het
Ttn	A	T	2: 76,602,992 (GRCm39)	I18410K	probably benign	Het
V1rd19	T	A	7: 23,703,149 (GRCm39)	V205D	probably damaging	Het
Vdac3	A	T	8: 23,070,515 (GRCm39)	I132K	possibly damaging	Het
Vmn2r95	T	G	17: 18,672,530 (GRCm39)	C756G	probably damaging	Het
Zc3h15	A	G	2: 83,494,334 (GRCm39)	T421A	unknown	Het
Zc3hc1	T	C	6: 30,374,837 (GRCm39)	T235A	probably benign	Het
Zcchc14	A	G	8: 122,335,990 (GRCm39)		probably benign	Het
Zfp318	T	A	17: 46,722,366 (GRCm39)	N1456K	possibly damaging	Het
Zfp606	A	G	7: 12,214,858 (GRCm39)		probably benign	Het
Zfp811	T	A	17: 33,016,399 (GRCm39)	H546L	probably damaging	Het
Zfp94	A	T	7: 24,008,541 (GRCm39)	Y33N	probably damaging	Het
Zfyve9	G	T	4: 108,539,492 (GRCm39)		probably benign	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
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
R7819:Capn3	UTSW	2	120,294,646 (GRCm39)	missense	probably benign	0.05
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'- CTGCATTTACGCTCTGTTGATG -3'
(R):5'- CACATGGGCCGTTCAAACAG -3'

Sequencing Primer
(F):5'- GCATTTACGCTCTGTTGATGTCTTTC -3'
(R):5'- CCGTTCAAACAGGAGGATGC -3'

Posted On

2014-06-23