Mutagenetix > Incidental Mutation

Incidental Mutation 'R2174:Capn2'

237665

Institutional Source

Beutler Lab

Gene Symbol

Capn2

Ensembl Gene

ENSMUSG00000026509

Gene Name

calpain 2

Synonyms

Capa2, Capa-2, m-calpain

MMRRC Submission

040176-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182294825-182345173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 182307290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 516 (I516N)

Ref Sequence

ENSEMBL: ENSMUSP00000068895 (fasta)

Gene Model

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

AlphaFold

O08529

Predicted Effect

probably benign
Transcript: ENSMUST00000068505
AA Change: I516N

PolyPhen 2 Score 0.222 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000068895
Gene: ENSMUSG00000026509
AA Change: I516N

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: ENSMUST00000192230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194961

Meta Mutation Damage Score

0.1115

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (73/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	T	C	7: 37,894,252 (GRCm39)	I95T	possibly damaging	Het
Adarb1	A	G	10: 77,131,632 (GRCm39)	I619T	probably benign	Het
Aldh2	T	C	5: 121,710,731 (GRCm39)		probably benign	Het
Antxrl	T	A	14: 33,782,357 (GRCm39)	L180Q	probably damaging	Het
Asnsd1	A	T	1: 53,386,760 (GRCm39)	I289N	probably benign	Het
Asxl3	T	G	18: 22,586,701 (GRCm39)	S164A	possibly damaging	Het
Cacnb2	C	T	2: 14,963,578 (GRCm39)	T108I	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cenpo	T	C	12: 4,267,318 (GRCm39)	K73R	probably benign	Het
Cfap20dc	T	C	14: 8,558,109 (GRCm38)	I159V	probably benign	Het
Clasp1	A	G	1: 118,487,825 (GRCm39)	H823R	probably damaging	Het
Col6a4	T	C	9: 105,937,331 (GRCm39)	D1395G	probably damaging	Het
Ddx60	A	G	8: 62,409,175 (GRCm39)	I404V	probably damaging	Het
Ddx60	G	T	8: 62,470,234 (GRCm39)	M1407I	probably benign	Het
Dennd3	A	T	15: 73,427,154 (GRCm39)	R844W	probably damaging	Het
Depdc1b	A	T	13: 108,498,787 (GRCm39)	K157*	probably null	Het
Dnai7	T	C	6: 145,120,896 (GRCm39)	H641R	probably damaging	Het
Dnajc1	T	C	2: 18,312,762 (GRCm39)	D196G	probably damaging	Het
Fanca	A	G	8: 123,998,009 (GRCm39)	W1226R	probably benign	Het
Fbxl13	A	G	5: 21,787,046 (GRCm39)	V297A	possibly damaging	Het
Fnta	A	T	8: 26,503,498 (GRCm39)	F96I	possibly damaging	Het
Fzd3	T	C	14: 65,449,680 (GRCm39)		probably benign	Het
Gckr	T	C	5: 31,484,353 (GRCm39)	V597A	possibly damaging	Het
Gm43302	T	C	5: 105,422,216 (GRCm39)	K496R	probably benign	Het
Gm5283	A	G	3: 17,285,005 (GRCm39)		noncoding transcript	Het
Gm6741	A	G	17: 91,544,332 (GRCm39)	I32V	probably benign	Het
Gnptab	T	A	10: 88,269,906 (GRCm39)	F870I	probably damaging	Het
Gpx8	G	A	13: 113,182,140 (GRCm39)	P98S	probably benign	Het
Grm2	T	C	9: 106,524,994 (GRCm39)	I574V	probably benign	Het
Gtf3c5	T	C	2: 28,457,787 (GRCm39)	D468G	probably benign	Het
Hectd3	A	T	4: 116,856,898 (GRCm39)	M482L	probably benign	Het
Ier5	G	T	1: 154,974,599 (GRCm39)	P193H	possibly damaging	Het
Inpp4a	A	G	1: 37,435,211 (GRCm39)	N827S	probably damaging	Het
Kif13a	A	G	13: 46,922,652 (GRCm39)	L387P	probably damaging	Het
Map3k1	G	C	13: 111,889,016 (GRCm39)	H1314D	possibly damaging	Het
Mbl2	G	A	19: 30,211,412 (GRCm39)	C11Y	possibly damaging	Het
Msr1	A	G	8: 40,084,381 (GRCm39)	L58P	probably damaging	Het
Mtmr10	T	A	7: 63,986,512 (GRCm39)	F530Y	possibly damaging	Het
Myo7b	A	G	18: 32,116,610 (GRCm39)	L999P	probably damaging	Het
Myoz3	T	C	18: 60,723,296 (GRCm39)	E8G	probably benign	Het
Naip6	C	A	13: 100,435,495 (GRCm39)	M1009I	probably benign	Het
Nav2	T	A	7: 49,102,411 (GRCm39)	M342K	probably damaging	Het
Ndufaf6	T	C	4: 11,070,228 (GRCm39)	H131R	probably benign	Het
Nlrp4a	T	C	7: 26,148,849 (GRCm39)	L152P	probably damaging	Het
Or9s23	A	G	1: 92,501,379 (GRCm39)	N162S	probably benign	Het
Pan3	T	C	5: 147,387,463 (GRCm39)	I144T	possibly damaging	Het
Prkdc	A	T	16: 15,552,786 (GRCm39)	Q2074L	probably benign	Het
Pthlh	G	A	6: 147,158,510 (GRCm39)	T150I	probably benign	Het
Ptprq	A	T	10: 107,541,414 (GRCm39)	Y371N	probably damaging	Het
Rfwd3	A	G	8: 112,009,975 (GRCm39)	S377P	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sap130	T	C	18: 31,810,532 (GRCm39)		probably null	Het
Sap25	T	G	5: 137,640,891 (GRCm39)	M229R	possibly damaging	Het
Scaper	A	T	9: 55,766,321 (GRCm39)	V479E	probably null	Het
Scn3a	T	A	2: 65,337,550 (GRCm39)	D649V	probably damaging	Het
Slco1a7	A	T	6: 141,673,319 (GRCm39)	Y406*	probably null	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Sowahb	T	C	5: 93,192,284 (GRCm39)	E145G	possibly damaging	Het
Stxbp5	T	A	10: 9,711,590 (GRCm39)	I277F	possibly damaging	Het
Tanc1	T	C	2: 59,674,177 (GRCm39)	S1754P	possibly damaging	Het
Tanc2	A	G	11: 105,801,135 (GRCm39)	D1117G	probably benign	Het
Tbc1d31	A	G	15: 57,815,137 (GRCm39)	M605V	possibly damaging	Het
Tekt3	A	T	11: 62,985,514 (GRCm39)	D440V	possibly damaging	Het
Tmem67	C	T	4: 12,063,730 (GRCm39)	W477*	probably null	Het
Tra2a	T	C	6: 49,227,861 (GRCm39)		probably benign	Het
Trappc12	A	G	12: 28,797,380 (GRCm39)	F51L	possibly damaging	Het
Trrap	C	A	5: 144,758,665 (GRCm39)	P2183Q	probably benign	Het
Ubn2	T	A	6: 38,447,076 (GRCm39)		probably null	Het
Unc5d	A	T	8: 29,184,568 (GRCm39)	V644E	probably damaging	Het
Xpo4	A	G	14: 57,827,547 (GRCm39)	L883P	probably damaging	Het
Zbbx	T	G	3: 74,959,721 (GRCm39)	D616A	possibly damaging	Het
Zfp943	T	A	17: 22,211,804 (GRCm39)	C297S	probably damaging	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
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
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'- TCGGGCTTTAATGAACAAGAGAC -3'
(R):5'- TTGCTCTATTCCACACGGG -3'

Sequencing Primer
(F):5'- CTTTAATGAACAAGAGACTGGCTG -3'
(R):5'- AAAAAGTATCTCTGCCCTGGCTACTG -3'

Posted On

2014-10-02