Mutagenetix > Incidental Mutation

Incidental Mutation 'R1880:Capn2'

209016

Institutional Source

Beutler Lab

Gene Symbol

Capn2

Ensembl Gene

ENSMUSG00000026509

Gene Name

calpain 2

Synonyms

Capa2, Capa-2, m-calpain

MMRRC Submission

039901-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

182294825-182345173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 182316581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 293 (W293R)

Ref Sequence

ENSEMBL: ENSMUSP00000068895 (fasta)

Gene Model

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

AlphaFold

O08529

Predicted Effect

probably damaging
Transcript: ENSMUST00000068505
AA Change: W293R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068895
Gene: ENSMUSG00000026509
AA Change: W293R

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: ENSMUST00000195868

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.2%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,072,615 (GRCm39)	D846G	possibly damaging	Het
Arhgef5	C	A	6: 43,250,022 (GRCm39)	Q258K	possibly damaging	Het
Atp10b	G	T	11: 43,150,259 (GRCm39)	G1319V	probably damaging	Het
Axl	T	C	7: 25,473,973 (GRCm39)	T315A	probably damaging	Het
Brd10	C	A	19: 29,695,523 (GRCm39)	L1323F	probably benign	Het
Btnl2	A	G	17: 34,584,337 (GRCm39)	E420G	possibly damaging	Het
Cd209f	A	G	8: 4,155,464 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Col1a1	A	G	11: 94,841,394 (GRCm39)	K1259R	unknown	Het
Dpysl3	A	T	18: 43,462,939 (GRCm39)		probably null	Het
Dus4l	T	C	12: 31,690,869 (GRCm39)	I261V	probably benign	Het
Ell3	T	C	2: 121,270,792 (GRCm39)	D247G	probably benign	Het
Erg	G	A	16: 95,178,168 (GRCm39)	T246I	probably benign	Het
Eva1c	T	C	16: 90,694,303 (GRCm39)	I196T	possibly damaging	Het
Fbxo43	T	C	15: 36,162,661 (GRCm39)	D182G	probably benign	Het
Frrs1	T	C	3: 116,690,444 (GRCm39)		probably null	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gata4	G	T	14: 63,442,144 (GRCm39)	P20Q	probably damaging	Het
Gmnc	T	C	16: 26,784,361 (GRCm39)	D48G	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Habp2	A	G	19: 56,306,260 (GRCm39)	I481V	possibly damaging	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Hnrnpul1	A	G	7: 25,432,523 (GRCm39)	V380A	possibly damaging	Het
Hspa2	G	A	12: 76,452,694 (GRCm39)	D463N	possibly damaging	Het
Itga11	A	G	9: 62,585,231 (GRCm39)	D2G	probably benign	Het
Kel	G	A	6: 41,664,479 (GRCm39)	L653F	possibly damaging	Het
Lgr5	T	C	10: 115,288,184 (GRCm39)	Y748C	probably damaging	Het
Lpxn	A	G	19: 12,781,452 (GRCm39)	K57E	probably benign	Het
Ltbp2	G	T	12: 84,876,045 (GRCm39)	H501N	probably benign	Het
Macf1	G	A	4: 123,332,384 (GRCm39)	A2419V	probably damaging	Het
Map3k12	A	G	15: 102,410,499 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,285 (GRCm39)	V668I	possibly damaging	Het
Mmp10	T	C	9: 7,505,575 (GRCm39)	S280P	probably benign	Het
Neb	C	A	2: 52,148,743 (GRCm39)	M2601I	probably damaging	Het
Nsd1	T	A	13: 55,361,606 (GRCm39)	N191K	probably damaging	Het
Or2w1	A	T	13: 21,317,802 (GRCm39)	N286Y	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Or5w14	C	A	2: 87,541,639 (GRCm39)	G204C	probably damaging	Het
Or6c214	A	G	10: 129,591,290 (GRCm39)	F10L	probably benign	Het
Patj	C	T	4: 98,385,477 (GRCm39)	P364S	probably benign	Het
Pex1	T	C	5: 3,655,770 (GRCm39)	V39A	probably benign	Het
Pira13	C	T	7: 3,827,950 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,388,638 (GRCm39)	I1332F	probably benign	Het
Polq	T	C	16: 36,906,954 (GRCm39)	V2026A	possibly damaging	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Ppp4r4	T	A	12: 103,571,294 (GRCm39)	Y678N	possibly damaging	Het
Rpf2	T	C	10: 40,109,154 (GRCm39)	D95G	possibly damaging	Het
Sema3c	A	T	5: 17,932,464 (GRCm39)	K656*	probably null	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Snap25	G	A	2: 136,619,305 (GRCm39)	V153M	probably damaging	Het
Snrnp70	T	C	7: 45,026,786 (GRCm39)		probably null	Het
Tas2r144	C	T	6: 42,193,004 (GRCm39)	T248I	probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Usp38	T	C	8: 81,727,695 (GRCm39)	E346G	probably damaging	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r91	A	T	7: 19,835,698 (GRCm39)	S206C	probably damaging	Het
Vps36	T	C	8: 22,703,578 (GRCm39)		probably null	Het
Wdfy3	T	C	5: 102,065,301 (GRCm39)	N1289S	probably benign	Het
Zfp759	T	C	13: 67,287,276 (GRCm39)	C276R	probably damaging	Het
Zkscan17	G	A	11: 59,378,455 (GRCm39)	Q243*	probably null	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
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'- GGACCTCATTTCTTGGCACTG -3'
(R):5'- TATGATTTTCCAAAGCTGCCCAG -3'

Sequencing Primer
(F):5'- TGCCCACAGTGCCACCTC -3'
(R):5'- CCAGCAGTGATCTGAGGGTTAAGTC -3'

Posted On

2014-06-30