Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Capn2'

64439

Institutional Source

Beutler Lab

Gene Symbol

Capn2

Ensembl Gene

ENSMUSG00000026509

Gene Name

calpain 2

Synonyms

Capa2, Capa-2, m-calpain

MMRRC Submission

038361-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0070 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

182294825-182345173 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 182301434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068895 (fasta)

Gene Model

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

AlphaFold

O08529

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: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (68/70)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,109,154 (GRCm39)	I387T	probably damaging	Het
Alpi	A	G	1: 87,028,881 (GRCm39)		probably benign	Het
Ankfn1	A	T	11: 89,283,128 (GRCm39)	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,046,624 (GRCm39)	E892G	probably benign	Het
AU018091	T	C	7: 3,208,738 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,551 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,202,744 (GRCm39)		probably benign	Het
Cdh20	C	T	1: 110,026,102 (GRCm39)	A446V	probably benign	Het
Ciapin1	T	C	8: 95,551,847 (GRCm39)	N246S	possibly damaging	Het
Cmip	T	A	8: 118,153,293 (GRCm39)	I270N	probably damaging	Het
Cyp2d40	A	G	15: 82,644,975 (GRCm39)	V225A	unknown	Het
Dnah9	A	G	11: 66,050,866 (GRCm39)	V142A	probably benign	Het
Dnai4	A	T	4: 102,917,131 (GRCm39)	I571K	probably damaging	Het
Flt3	A	G	5: 147,309,536 (GRCm39)		probably benign	Het
Gm10238	A	G	15: 75,109,434 (GRCm39)		noncoding transcript	Het
Gm4787	T	A	12: 81,425,840 (GRCm39)	D106V	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hycc1	T	C	5: 24,169,997 (GRCm39)	S451G	probably damaging	Het
Ifna11	A	G	4: 88,738,512 (GRCm39)	D106G	possibly damaging	Het
Igkv1-115	G	A	6: 68,138,402 (GRCm39)	V2I	probably benign	Het
Itga6	T	C	2: 71,657,060 (GRCm39)		probably benign	Het
Kcnj6	C	A	16: 94,742,056 (GRCm39)	K5N	probably benign	Het
Kcnt1	T	C	2: 25,782,374 (GRCm39)	V191A	probably benign	Het
Lcorl	G	A	5: 45,891,043 (GRCm39)	R437C	probably damaging	Het
Man2a1	G	A	17: 64,966,074 (GRCm39)		probably null	Het
Map3k14	T	A	11: 103,130,380 (GRCm39)		probably null	Het
Mtch1	T	A	17: 29,559,033 (GRCm39)		probably benign	Het
Myo1c	A	G	11: 75,551,076 (GRCm39)	N217S	probably benign	Het
Or2h15	A	G	17: 38,441,780 (GRCm39)	L101P	probably damaging	Het
Or2w4	T	C	13: 21,795,431 (GRCm39)	K236R	possibly damaging	Het
Orm3	A	G	4: 63,274,883 (GRCm39)	T64A	probably benign	Het
Phf20l1	T	G	15: 66,511,840 (GRCm39)	W940G	probably damaging	Het
Phldb1	C	T	9: 44,619,201 (GRCm39)	R844H	probably damaging	Het
Piezo2	T	C	18: 63,235,155 (GRCm39)	D814G	probably damaging	Het
Pkd2	T	C	5: 104,614,856 (GRCm39)	C233R	probably damaging	Het
Prkd3	A	G	17: 79,261,939 (GRCm39)	Y792H	probably damaging	Het
Pth1r	A	T	9: 110,556,618 (GRCm39)		probably null	Het
Pxdn	T	C	12: 30,032,726 (GRCm39)	L146S	probably damaging	Het
Rnf32	A	G	5: 29,430,125 (GRCm39)	T315A	probably benign	Het
Rpl5	T	C	5: 108,049,766 (GRCm39)	Y12H	probably benign	Het
Serpinh1	A	T	7: 98,998,521 (GRCm39)	S36R	probably damaging	Het
Setx	A	T	2: 29,051,537 (GRCm39)	T2030S	probably benign	Het
Sf3a3	G	A	4: 124,608,748 (GRCm39)	V21I	probably benign	Het
Sin3b	T	A	8: 73,452,210 (GRCm39)	H105Q	probably damaging	Het
Slitrk1	T	C	14: 109,150,749 (GRCm39)		probably benign	Het
Slx4	A	T	16: 3,805,880 (GRCm39)	D557E	possibly damaging	Het
Sprr3	C	T	3: 92,364,609 (GRCm39)	M78I	probably benign	Het
Ssmem1	A	G	6: 30,519,420 (GRCm39)	E35G	possibly damaging	Het
Stag1	C	T	9: 100,838,461 (GRCm39)	P1238S	probably null	Het
Stra6	C	T	9: 58,059,898 (GRCm39)		probably benign	Het
Tmem127	T	C	2: 127,098,979 (GRCm39)	V171A	probably damaging	Het
Tmem150a	A	G	6: 72,335,742 (GRCm39)		probably null	Het
Top2a	C	G	11: 98,905,886 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,644,771 (GRCm39)		probably null	Het
Tusc3	G	A	8: 39,530,421 (GRCm39)	G129R	possibly damaging	Het
Uspl1	A	G	5: 149,146,515 (GRCm39)	Y422C	probably damaging	Het
Vmn2r88	A	T	14: 51,651,597 (GRCm39)	T312S	probably benign	Het
Zc3hav1l	A	T	6: 38,272,125 (GRCm39)	S215T	probably damaging	Het
Zfp947	T	A	17: 22,365,165 (GRCm39)	T170S	probably benign	Het

Other mutations in Capn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02049:Capn2	APN	1	182,301,519 (GRCm39)	splice site	probably benign
IGL02589:Capn2	APN	1	182,311,913 (GRCm39)	missense	probably damaging	1.00
IGL02679:Capn2	APN	1	182,300,149 (GRCm39)	missense	probably benign
IGL03207:Capn2	APN	1	182,316,578 (GRCm39)	missense	possibly damaging	0.92
E7848:Capn2	UTSW	1	182,314,159 (GRCm39)	missense	possibly damaging	0.67
R0070:Capn2	UTSW	1	182,301,434 (GRCm39)	splice site	probably benign
R0540:Capn2	UTSW	1	182,319,749 (GRCm39)	nonsense	probably null
R0571:Capn2	UTSW	1	182,298,325 (GRCm39)	missense	probably benign	0.01
R1620:Capn2	UTSW	1	182,344,702 (GRCm39)	missense	probably damaging	1.00
R1818:Capn2	UTSW	1	182,300,162 (GRCm39)	missense	probably benign	0.00
R1819:Capn2	UTSW	1	182,300,162 (GRCm39)	missense	probably benign	0.00
R1822:Capn2	UTSW	1	182,300,525 (GRCm39)	missense	possibly damaging	0.95
R1880:Capn2	UTSW	1	182,316,581 (GRCm39)	missense	probably damaging	1.00
R2174:Capn2	UTSW	1	182,307,290 (GRCm39)	missense	probably benign	0.22
R2391:Capn2	UTSW	1	182,306,174 (GRCm39)	missense	probably benign	0.01
R2860:Capn2	UTSW	1	182,300,485 (GRCm39)	splice site	probably benign
R2861:Capn2	UTSW	1	182,300,485 (GRCm39)	splice site	probably benign
R2878:Capn2	UTSW	1	182,344,798 (GRCm39)	missense	probably benign	0.00
R3052:Capn2	UTSW	1	182,315,337 (GRCm39)	missense	probably benign	0.06
R4463:Capn2	UTSW	1	182,307,329 (GRCm39)	intron	probably benign
R4669:Capn2	UTSW	1	182,298,345 (GRCm39)	missense	probably benign	0.00
R5077:Capn2	UTSW	1	182,300,138 (GRCm39)	missense	possibly damaging	0.71
R5397:Capn2	UTSW	1	182,298,271 (GRCm39)	missense	probably damaging	1.00
R5696:Capn2	UTSW	1	182,306,165 (GRCm39)	missense	possibly damaging	0.79
R6777:Capn2	UTSW	1	182,297,742 (GRCm39)	critical splice donor site	probably null
R6800:Capn2	UTSW	1	182,309,045 (GRCm39)	missense	probably damaging	0.99
R7741:Capn2	UTSW	1	182,307,288 (GRCm39)	nonsense	probably null
R7814:Capn2	UTSW	1	182,319,711 (GRCm39)	missense	probably damaging	1.00
R7995:Capn2	UTSW	1	182,306,111 (GRCm39)	critical splice donor site	probably null
R8223:Capn2	UTSW	1	182,310,099 (GRCm39)	critical splice donor site	probably null
R8446:Capn2	UTSW	1	182,311,796 (GRCm39)	missense	possibly damaging	0.90
R8496:Capn2	UTSW	1	182,304,840 (GRCm39)	missense	probably benign	0.04
R9623:Capn2	UTSW	1	182,344,795 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GACACGGATTCATGTCAGACCCAC -3'
(R):5'- CCTGTCAGCATTTAAAGGCCCAGC -3'

Sequencing Primer
(F):5'- CTATGGTTTAGGAAAGCTCTGC -3'
(R):5'- gggagtcagaagaagtgttgag -3'

Posted On

2013-08-06