Mutagenetix > Incidental Mutation

Incidental Mutation 'R9623:Capn2'

724917

Institutional Source

Beutler Lab

Gene Symbol

Capn2

Ensembl Gene

ENSMUSG00000026509

Gene Name

calpain 2

Synonyms

Capa2, Capa-2, m-calpain

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9623 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

182294825-182345173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 182344795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 42 (A42V)

Ref Sequence

ENSEMBL: ENSMUSP00000068895 (fasta)

Gene Model

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

AlphaFold

O08529

Predicted Effect

probably benign
Transcript: ENSMUST00000068505
AA Change: A42V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000068895
Gene: ENSMUSG00000026509
AA Change: A42V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	T	7: 119,181,975 (GRCm39)	Y408F	probably benign	Het
Adamts9	G	T	6: 92,857,661 (GRCm39)	P876T	probably benign	Het
Afap1l2	T	A	19: 56,906,462 (GRCm39)	D479V	probably damaging	Het
Aire	T	C	10: 77,873,809 (GRCm39)	E300G	probably damaging	Het
Ampd3	A	G	7: 110,402,307 (GRCm39)	E428G	probably damaging	Het
Apaf1	A	T	10: 90,913,463 (GRCm39)	Y153*	probably null	Het
Arhgap10	T	C	8: 77,985,786 (GRCm39)	T694A	probably benign	Het
Arhgef39	A	G	4: 43,496,819 (GRCm39)		probably null	Het
Arhgef5	T	C	6: 43,251,736 (GRCm39)	V829A	possibly damaging	Het
Arrdc4	A	G	7: 68,390,741 (GRCm39)	M333T		Het
Boc	G	T	16: 44,322,018 (GRCm39)	R215S		Het
Ccdc136	T	A	6: 29,405,939 (GRCm39)	M95K	probably benign	Het
Ccdc183	A	T	2: 25,499,520 (GRCm39)	Y438N	probably benign	Het
Ccnf	C	A	17: 24,468,367 (GRCm39)	R10M	probably damaging	Het
Cd19	A	G	7: 126,011,284 (GRCm39)	F300S	probably damaging	Het
Cdkl3	G	T	11: 51,895,816 (GRCm39)	C21F	probably damaging	Het
Celf2	C	T	2: 6,620,522 (GRCm39)	R183Q	probably damaging	Het
Clca3a1	T	G	3: 144,719,698 (GRCm39)	D424A	probably benign	Het
Clec3a	A	G	8: 115,144,887 (GRCm39)	D21G	probably benign	Het
Clec4e	T	C	6: 123,263,306 (GRCm39)	N78S	probably benign	Het
Clpb	A	T	7: 101,313,399 (GRCm39)	S128C	possibly damaging	Het
Cntnap5a	T	A	1: 116,369,985 (GRCm39)	Y867*	probably null	Het
Dgkg	G	C	16: 22,385,194 (GRCm39)	N437K		Het
Dnhd1	A	G	7: 105,335,773 (GRCm39)	E1139G	probably damaging	Het
Dnhd1	G	A	7: 105,344,134 (GRCm39)	R1826H	probably damaging	Het
Etl4	A	G	2: 20,811,052 (GRCm39)	H1413R		Het
Fibp	T	A	19: 5,513,850 (GRCm39)	V271D	possibly damaging	Het
Gabra4	G	T	5: 71,791,023 (GRCm39)	T273K	probably damaging	Het
Gan	G	A	8: 117,914,219 (GRCm39)	D206N	probably damaging	Het
Gstz1	A	T	12: 87,206,923 (GRCm39)	I106F	probably damaging	Het
Hivep2	T	G	10: 14,006,546 (GRCm39)	L1048R	probably damaging	Het
Htr6	A	T	4: 138,801,750 (GRCm39)	M108K	probably damaging	Het
Hycc1	A	C	5: 24,170,255 (GRCm39)	S365A	probably benign	Het
Itgad	A	G	7: 127,803,723 (GRCm39)	E1134G	probably damaging	Het
Lrp1b	C	T	2: 41,366,648 (GRCm39)	G657S		Het
Lrp2	T	C	2: 69,307,423 (GRCm39)	I2879V	probably benign	Het
Lyst	G	T	13: 13,852,587 (GRCm39)	V2196L	probably benign	Het
Mettl5	T	A	2: 69,711,717 (GRCm39)	I50F	possibly damaging	Het
Mmadhc	A	G	2: 50,186,341 (GRCm39)		probably benign	Het
Msantd1	G	A	5: 35,075,076 (GRCm39)	W46*	probably null	Het
Mto1	T	C	9: 78,364,712 (GRCm39)	I317T	probably damaging	Het
Myef2	T	G	2: 124,957,377 (GRCm39)	D126A	probably damaging	Het
Net1	A	G	13: 3,937,569 (GRCm39)		probably null	Het
Nnmt	A	T	9: 48,503,660 (GRCm39)	M122K	probably benign	Het
Nos1	A	G	5: 118,087,849 (GRCm39)	K1371E	probably benign	Het
Nrcam	G	C	12: 44,636,931 (GRCm39)	W1121C	probably damaging	Het
Nt5c2	A	G	19: 46,877,409 (GRCm39)	S511P		Het
Or10w1	C	A	19: 13,632,414 (GRCm39)	A207E	probably damaging	Het
Or1j17	G	T	2: 36,578,778 (GRCm39)	V255F	probably benign	Het
Or2k2	T	C	4: 58,785,585 (GRCm39)	I46V	possibly damaging	Het
Or4a73	A	G	2: 89,421,261 (GRCm39)	F66S	probably benign	Het
P2rx7	A	G	5: 122,790,860 (GRCm39)	K66E	probably damaging	Het
Paqr4	A	G	17: 23,956,656 (GRCm39)	W236R	probably damaging	Het
Parm1	A	G	5: 91,760,923 (GRCm39)	Y265C	probably damaging	Het
Pcbp2	T	C	15: 102,392,628 (GRCm39)	Y178H	probably damaging	Het
Pidd1	G	A	7: 141,021,678 (GRCm39)	P261S	probably damaging	Het
Pik3r6	T	C	11: 68,442,159 (GRCm39)	V705A	possibly damaging	Het
Pla2g15	G	T	8: 106,887,275 (GRCm39)	V156F	possibly damaging	Het
Prpf6	G	A	2: 181,289,137 (GRCm39)	V609M	possibly damaging	Het
Resf1	A	G	6: 149,226,965 (GRCm39)	N4D	possibly damaging	Het
Rprd2	A	G	3: 95,679,505 (GRCm39)	V491A	probably benign	Het
Rtp3	T	A	9: 110,818,600 (GRCm39)	H27L	probably damaging	Het
Sema5b	G	A	16: 35,443,121 (GRCm39)	R42Q	possibly damaging	Het
Serpina3f	A	G	12: 104,183,743 (GRCm39)	K202E	probably damaging	Het
Slc25a33	T	G	4: 149,833,767 (GRCm39)	M168L	probably benign	Het
Slc7a8	A	G	14: 54,964,341 (GRCm39)	C371R	probably damaging	Het
Smyd1	T	C	6: 71,192,808 (GRCm39)	N467S	probably benign	Het
Sptbn4	A	G	7: 27,107,807 (GRCm39)	W872R	probably damaging	Het
Syne1	A	T	10: 5,152,009 (GRCm39)	I5766N	probably damaging	Het
Syne2	A	G	12: 75,986,760 (GRCm39)	S1699G	probably benign	Het
Synpo2	T	C	3: 122,908,047 (GRCm39)	D423G	possibly damaging	Het
Tcf19	A	T	17: 35,825,792 (GRCm39)	F122I	probably damaging	Het
Tdpoz4	A	T	3: 93,704,221 (GRCm39)	T173S	probably benign	Het
Trappc8	T	A	18: 20,983,975 (GRCm39)	H681L	possibly damaging	Het
Trim36	A	G	18: 46,308,623 (GRCm39)	F413S	probably benign	Het
Tsks	A	G	7: 44,605,931 (GRCm39)	T466A	possibly damaging	Het
Ubr1	T	C	2: 120,764,820 (GRCm39)	I545V	probably benign	Het
Ubr4	A	G	4: 139,159,024 (GRCm39)	E1170G	probably benign	Het
Usp29	A	G	7: 6,964,396 (GRCm39)	R80G	possibly damaging	Het
Utrn	C	T	10: 12,282,225 (GRCm39)	R3258H	probably damaging	Het
Vmn1r13	T	G	6: 57,187,549 (GRCm39)	V236G	probably benign	Het
Vmn1r33	T	A	6: 66,589,002 (GRCm39)	D184V	probably damaging	Het
Vmn2r87	T	C	10: 130,315,794 (GRCm39)	N91D	probably damaging	Het
Wrn	A	G	8: 33,774,644 (GRCm39)		probably null	Het
Zan	G	A	5: 137,461,636 (GRCm39)	P1181L	unknown	Het
Zbtb47	C	A	9: 121,591,990 (GRCm39)	Y103*	probably null	Het
Zfc3h1	C	A	10: 115,259,362 (GRCm39)	L1645I	possibly damaging	Het
Zfhx2	G	T	14: 55,302,191 (GRCm39)	P1931Q	probably damaging	Het
Zfp352	A	G	4: 90,113,128 (GRCm39)	K423E	probably benign	Het
Zfp574	T	A	7: 24,780,515 (GRCm39)	H512Q		Het
Zfp7	G	A	15: 76,774,531 (GRCm39)	R191H	probably benign	Het
Zfp771	A	T	7: 126,844,301 (GRCm39)	K46*	probably null	Het
Zkscan8	T	C	13: 21,704,763 (GRCm39)	E392G	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
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

Predicted Primers

PCR Primer
(F):5'- ACTAAGCAGGGACTACCGAG -3'
(R):5'- AACTTGCGATTGTCGTCCCC -3'

Sequencing Primer
(F):5'- ACTTGCAGCCTCCCGGAAC -3'
(R):5'- GTGAATCATCCCCGCAGCAG -3'

Posted On

2022-09-12