Mutagenetix > Incidental Mutations

Incidental Mutation 'R2861:Capn2'

252695

Institutional Source

Beutler Lab

Gene Symbol

Capn2

Ensembl Gene

ENSMUSG00000026509

Gene Name

calpain 2

Synonyms

Capa-2, Capa2, m-calpain

MMRRC Submission

040451-MU

Accession Numbers

Genbank: NM_009794 ; MGI: 88264

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2861 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

182467260-182517608 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 182472920 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068505]

Predicted Effect

probably benign
Transcript: ENSMUST00000068505

SMART Domains

Protein: ENSMUSP00000068895
Gene: ENSMUSG00000026509

Domain	Start	End	E-Value	Type
CysPc	27	352	1.62e-186	SMART
calpain_III	355	510	3.47e-90	SMART
low complexity region	513	532	N/A	INTRINSIC
EFh	576	604	5.86e0	SMART
EFh	606	634	3.21e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194961

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous inactivation of this gene leads to complete prenatal lethality. Mice homozygous for one null allele display placental dysfunction, thin ventricular walls, and peripheral vessel failure. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,965,849	S2079N	probably damaging	Het
Abca13	A	G	11: 9,309,057	S2928G	probably damaging	Het
Abcc9	C	T	6: 142,626,010	V1131M	probably benign	Het
Abcd1	T	A	X: 73,737,458	L713H	probably damaging	Het
Actg1	T	C	11: 120,346,801	I52V	probably benign	Het
Ang	G	T	14: 51,101,818	D139Y	probably damaging	Het
Ano1	C	T	7: 144,590,012	G1011E	probably damaging	Het
Apoe	T	C	7: 19,697,554	Y46C	probably damaging	Het
Ash1l	T	C	3: 89,054,478	W2386R	probably damaging	Het
Asph	T	C	4: 9,598,277	D250G	probably damaging	Het
Atr	A	G	9: 95,874,243	N836S	probably benign	Het
Btg3	A	G	16: 78,364,980	V114A	probably damaging	Het
C2	T	C	17: 34,863,878	T471A	possibly damaging	Het
C4b	T	A	17: 34,734,758	S959C	probably damaging	Het
Cap1	A	T	4: 122,864,725	S221T	probably benign	Het
Cd38	A	G	5: 43,901,433	S130G	probably damaging	Het
Cd8b1	A	G	6: 71,334,101	R202G	probably damaging	Het
Col22a1	A	G	15: 71,815,943		probably null	Het
Cps1	A	T	1: 67,166,375	E519V	probably benign	Het
Cyp2c38	G	A	19: 39,460,694	R72W	probably benign	Het
Cyp3a16	A	T	5: 145,455,499	Y215*	probably null	Het
F5	A	T	1: 164,184,964	K482N	probably damaging	Het
Fam212a	T	C	9: 107,984,404	T238A	probably benign	Het
Fam45a	T	C	19: 60,814,794	S80P	probably benign	Het
Gab1	T	C	8: 80,784,753	M488V	probably benign	Het
Gabpb1	A	G	2: 126,653,574	I86T	probably damaging	Het
Gbx2	C	T	1: 89,929,131	R179Q	probably damaging	Het
Gm11938	C	A	11: 99,603,146	R41L	probably damaging	Het
Gpn1	A	G	5: 31,497,320	D72G	probably damaging	Het
Greb1	A	G	12: 16,711,745	S545P	probably benign	Het
Hsd3b7	T	G	7: 127,802,270	L189R	probably damaging	Het
Iglc1	T	C	16: 19,061,910		probably benign	Het
Il18r1	T	C	1: 40,498,557	V494A	possibly damaging	Het
Itsn2	C	A	12: 4,700,315		probably benign	Het
Kcnn1	T	C	8: 70,846,535	K487R	probably benign	Het
Kdf1	G	A	4: 133,528,541	E190K	probably damaging	Het
Klhdc10	G	A	6: 30,402,140	R48H	unknown	Het
Lama3	G	T	18: 12,453,750	L723F	probably damaging	Het
Lama5	T	C	2: 180,187,247	T2034A	probably benign	Het
Maged1	G	A	X: 94,538,924	P366S	probably damaging	Het
Med14	A	G	X: 12,719,697	I521T	probably benign	Het
Mia2	A	G	12: 59,154,410	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,583,410	R53Q	possibly damaging	Het
Mum1l1	G	A	X: 139,236,680	G656S	possibly damaging	Het
Nmnat2	G	A	1: 153,112,425	V267I	probably benign	Het
Olfr1305	G	T	2: 111,873,473	C127*	probably null	Het
Olfr231	A	G	1: 174,117,732	Y95H	probably damaging	Het
Olfr490	A	G	7: 108,286,962	S55P	probably damaging	Het
Olfr715b	T	A	7: 107,106,468	H131L	probably benign	Het
Opn4	A	G	14: 34,593,828		probably null	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Parp16	G	T	9: 65,233,804	D219Y	probably damaging	Het
Pitpnm2	G	C	5: 124,121,437	H1224Q	probably damaging	Het
Pkd1	C	T	17: 24,565,446	T322I	probably benign	Het
Pkhd1l1	A	C	15: 44,540,871	T2299P	probably damaging	Het
Plin4	T	C	17: 56,106,668	D319G	probably damaging	Het
Ppp6r3	A	C	19: 3,521,782	S122R	possibly damaging	Het
Rims1	A	T	1: 22,432,976	F653I	probably benign	Het
Rnf113a1	A	G	X: 37,192,083	E231G	probably damaging	Het
Rnf41	T	C	10: 128,438,154	L225P	possibly damaging	Het
Ryr2	T	C	13: 11,593,093	E876G	probably damaging	Het
Slc25a10	G	A	11: 120,495,177	V115M	probably damaging	Het
Snx13	T	A	12: 35,138,117	I798N	probably benign	Het
Sri	A	T	5: 8,067,540	Q178L	probably benign	Het
Tex14	T	G	11: 87,474,417	D62E	probably damaging	Het
Tshz1	G	T	18: 84,014,980	H434Q	probably damaging	Het
Vegfd	A	G	X: 164,385,883	E57G	probably damaging	Het
Vmn2r112	T	A	17: 22,603,115	V258E	probably damaging	Het
Vmn2r59	A	G	7: 42,047,003	I105T	possibly damaging	Het
Vmn2r6	G	T	3: 64,547,339	T513N	probably benign	Het
Vmn2r72	A	T	7: 85,750,836	I335N	probably damaging	Het
Wiz	G	T	17: 32,361,706	T257K	probably damaging	Het
Xirp1	T	C	9: 120,019,815	M1V	probably null	Het
Xirp1	A	G	9: 120,018,378	S41P	probably benign	Het

Other mutations in Capn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02049:Capn2	APN	1	182473954	splice site	probably benign
IGL02589:Capn2	APN	1	182484348	missense	probably damaging	1.00
IGL02679:Capn2	APN	1	182472584	missense	probably benign
IGL03207:Capn2	APN	1	182489013	missense	possibly damaging	0.92
E7848:Capn2	UTSW	1	182486594	missense	possibly damaging	0.67
R0070:Capn2	UTSW	1	182473869	splice site	probably benign
R0070:Capn2	UTSW	1	182473869	splice site	probably benign
R0540:Capn2	UTSW	1	182492184	nonsense	probably null
R0571:Capn2	UTSW	1	182470760	missense	probably benign	0.01
R1620:Capn2	UTSW	1	182517137	missense	probably damaging	1.00
R1818:Capn2	UTSW	1	182472597	missense	probably benign	0.00
R1819:Capn2	UTSW	1	182472597	missense	probably benign	0.00
R1822:Capn2	UTSW	1	182472960	missense	possibly damaging	0.95
R1880:Capn2	UTSW	1	182489016	missense	probably damaging	1.00
R2174:Capn2	UTSW	1	182479725	missense	probably benign	0.22
R2391:Capn2	UTSW	1	182478609	missense	probably benign	0.01
R2860:Capn2	UTSW	1	182472920	splice site	probably benign
R2878:Capn2	UTSW	1	182517233	missense	probably benign	0.00
R3052:Capn2	UTSW	1	182487772	missense	probably benign	0.06
R4463:Capn2	UTSW	1	182479764	intron	probably benign
R4669:Capn2	UTSW	1	182470780	missense	probably benign	0.00
R5077:Capn2	UTSW	1	182472573	missense	possibly damaging	0.71
R5397:Capn2	UTSW	1	182470706	missense	probably damaging	1.00
R5696:Capn2	UTSW	1	182478600	missense	possibly damaging	0.79
R6777:Capn2	UTSW	1	182470177	critical splice donor site	probably null
R6800:Capn2	UTSW	1	182481480	missense	probably damaging	0.99
R7741:Capn2	UTSW	1	182479723	nonsense	probably null
R7814:Capn2	UTSW	1	182492146	missense	probably damaging	1.00
R7995:Capn2	UTSW	1	182478546	critical splice donor site	probably null
R8223:Capn2	UTSW	1	182482534	critical splice donor site	probably null
R8446:Capn2	UTSW	1	182484231	missense	possibly damaging	0.90
R8496:Capn2	UTSW	1	182477275	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGGAAACTCTTGACAGTGACC -3'
(R):5'- TCTGTGAAACCTCTGTGCTTG -3'

Sequencing Primer
(F):5'- CTGGTCACTTATCAGGCATAGG -3'
(R):5'- AAACCTCTGTGCTTGTGTTGG -3'

Posted On

2014-12-04