Mutagenetix > Incidental Mutation

Incidental Mutation 'R3824:Capn3'

275254

Institutional Source

Beutler Lab

Gene Symbol

Capn3

Ensembl Gene

ENSMUSG00000079110

Gene Name

calpain 3

Synonyms

Capa-3, Capa3, Lp82, p94

MMRRC Submission

040885-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120456019-120504913 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 120484483 bp (GRCm38)

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: ENSMUST00000145993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151924

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,611	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,802,913	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,119,150		probably null	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abcc3	T	C	11: 94,368,620		probably null	Het
Acad10	A	T	5: 121,622,818	M941K	probably benign	Het
Agrn	A	G	4: 156,169,302	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,393,549	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,480,465	T308S	probably benign	Het
C8b	G	T	4: 104,783,009	A170S	probably benign	Het
Cabyr	T	A	18: 12,751,690	D411E	probably benign	Het
Cd200r4	T	C	16: 44,820,950	F19L	probably benign	Het
Cflar	T	A	1: 58,735,697	Y218N	probably benign	Het
Col11a2	T	C	17: 34,054,180	Y630H	probably damaging	Het
Coq6	T	C	12: 84,372,415		probably benign	Het
Drg2	A	G	11: 60,459,508	T98A	possibly damaging	Het
Fam205c	A	G	4: 42,873,492		probably null	Het
Fry	T	A	5: 150,496,419	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,351,429	S240P	probably benign	Het
Glmp	G	A	3: 88,326,411	V107I	probably damaging	Het
Gls	A	C	1: 52,232,988	M2R	possibly damaging	Het
Gm13078	A	T	4: 143,726,685	H121L	probably benign	Het
Gm5724	T	C	6: 141,754,374	Q144R	possibly damaging	Het
Gm906	G	A	13: 50,245,512	S926F	possibly damaging	Het
Igfbp4	A	G	11: 99,048,235	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621	Y645*	probably null	Het
Kat6a	G	T	8: 22,862,364	V55F	probably damaging	Het
Kat8	T	A	7: 127,924,482	D292E	possibly damaging	Het
Myo19	T	A	11: 84,885,679	C54S	probably damaging	Het
Myo5b	C	T	18: 74,661,655	H532Y	probably benign	Het
Nckap1	T	C	2: 80,540,560	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,660,271	V105M	probably benign	Het
Olfr1076	T	G	2: 86,509,023	L188R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,793	S260G	possibly damaging	Het
Olfr888	A	T	9: 38,108,838	I51F	possibly damaging	Het
Olfr895	T	G	9: 38,268,518	S2A	probably benign	Het
Olfr904	T	A	9: 38,464,526	C162S	probably benign	Het
Palld	T	C	8: 61,709,033	D439G	probably damaging	Het
Pcf11	T	C	7: 92,659,620		probably benign	Het
Pigo	A	T	4: 43,020,909	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,583,271		probably null	Het
Plscr3	G	A	11: 69,850,138	V267M	probably benign	Het
Prom2	A	G	2: 127,535,673		probably benign	Het
Ptk7	A	G	17: 46,565,378	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,350,789	I1743F	probably benign	Het
Ptprm	A	G	17: 66,809,575	V894A	probably benign	Het
Rack1	A	G	11: 48,802,304	T105A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sdk1	A	G	5: 141,936,049	T267A	probably benign	Het
Sorcs3	T	A	19: 48,722,956	D653E	probably damaging	Het
St8sia1	A	G	6: 142,829,025	L276P	probably damaging	Het
Sync	T	C	4: 129,294,363	V396A	possibly damaging	Het
Taok3	A	G	5: 117,255,937	T592A	probably benign	Het
Tas2r104	T	A	6: 131,685,039	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,659,330	I252S	probably benign	Het
Tmem259	T	C	10: 79,978,448	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,834,197	N200K	possibly damaging	Het
Usp24	G	A	4: 106,379,066	V984I	probably benign	Het
Vmn1r189	T	A	13: 22,102,212	T152S	probably benign	Het
Vmn1r2	A	T	4: 3,172,413	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,958,258	N86H	probably damaging	Het
Zfp12	T	C	5: 143,240,322	V72A	probably benign	Het

Other mutations in Capn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Capn3	APN	2	120486482	intron	probably benign
IGL00976:Capn3	APN	2	120491901	missense	possibly damaging	0.81
IGL01538:Capn3	APN	2	120502186	splice site	probably null
IGL01564:Capn3	APN	2	120480708	missense	probably damaging	1.00
IGL02527:Capn3	APN	2	120504485	missense	probably damaging	0.99
IGL02605:Capn3	APN	2	120496037	missense	probably damaging	0.98
IGL02678:Capn3	APN	2	120502998	missense	probably damaging	1.00
IGL02899:Capn3	APN	2	120491901	missense	possibly damaging	0.81
IGL03255:Capn3	APN	2	120489708	missense	probably damaging	1.00
R0053:Capn3	UTSW	2	120491837	missense	possibly damaging	0.95
R0053:Capn3	UTSW	2	120491837	missense	possibly damaging	0.95
R0096:Capn3	UTSW	2	120502529	missense	possibly damaging	0.94
R0096:Capn3	UTSW	2	120502529	missense	possibly damaging	0.94
R0276:Capn3	UTSW	2	120488065	splice site	probably benign
R0601:Capn3	UTSW	2	120502596	splice site	probably null
R0714:Capn3	UTSW	2	120491880	missense	probably benign	0.32
R1217:Capn3	UTSW	2	120486421	nonsense	probably null
R1530:Capn3	UTSW	2	120482208	missense	probably damaging	1.00
R1566:Capn3	UTSW	2	120502993	missense	possibly damaging	0.72
R1745:Capn3	UTSW	2	120489689	missense	possibly damaging	0.87
R1748:Capn3	UTSW	2	120497013	missense	probably benign	0.10
R1861:Capn3	UTSW	2	120486482	intron	probably benign
R1960:Capn3	UTSW	2	120463940	missense	probably benign	0.00
R1971:Capn3	UTSW	2	120480747	missense	possibly damaging	0.95
R1994:Capn3	UTSW	2	120495937	missense	probably damaging	1.00
R2043:Capn3	UTSW	2	120491901	missense	possibly damaging	0.81
R2254:Capn3	UTSW	2	120501251	missense	probably benign	0.01
R2255:Capn3	UTSW	2	120501251	missense	probably benign	0.01
R3738:Capn3	UTSW	2	120485287	missense	possibly damaging	0.85
R4796:Capn3	UTSW	2	120502998	missense	probably damaging	1.00
R5073:Capn3	UTSW	2	120491820	missense	probably damaging	1.00
R5116:Capn3	UTSW	2	120485292	missense	probably benign	0.00
R5152:Capn3	UTSW	2	120501330	intron	probably benign
R5420:Capn3	UTSW	2	120495296	intron	probably benign
R5478:Capn3	UTSW	2	120464185	splice site	probably null
R5506:Capn3	UTSW	2	120502420	missense	probably damaging	0.97
R5664:Capn3	UTSW	2	120477025	missense	probably benign	0.04
R5733:Capn3	UTSW	2	120484594	nonsense	probably null
R6212:Capn3	UTSW	2	120477186	missense	probably benign	0.17
R7176:Capn3	UTSW	2	120504492	missense	possibly damaging	0.46
R7219:Capn3	UTSW	2	120503454	missense	probably damaging	0.99
R7365:Capn3	UTSW	2	120494814	missense	probably damaging	0.98
R7819:Capn3	UTSW	2	120464165	missense	probably benign	0.05
R8052:Capn3	UTSW	2	120486386	missense	probably benign
R8834:Capn3	UTSW	2	120464053	missense	probably damaging	0.98
R8970:Capn3	UTSW	2	120464085	missense	possibly damaging	0.90
R9088:Capn3	UTSW	2	120490970	missense	probably benign
R9473:Capn3	UTSW	2	120496054	nonsense	probably null
R9512:Capn3	UTSW	2	120496054	missense	probably damaging	0.99
R9663:Capn3	UTSW	2	120486378	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGGAATCACTTGGGATACACG -3'
(R):5'- CCCACCCCTGTAGTCCTAAATG -3'

Sequencing Primer
(F):5'- GACCTACTATGTCTAGAACTGGGC -3'
(R):5'- AAATGTTTCCCATCCTAAATGTTGCC -3'

Posted On

2015-04-02