Mutagenetix > Incidental Mutation

Incidental Mutation 'R8223:Capn2'

636799

Institutional Source

Beutler Lab

Gene Symbol

Capn2

Ensembl Gene

ENSMUSG00000026509

Gene Name

calpain 2

Synonyms

Capa2, Capa-2, m-calpain

MMRRC Submission

067641-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

182294825-182345173 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 182310099 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 null
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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,668,692 (GRCm39)	W18R	probably damaging	Het
Alms1	T	A	6: 85,620,222 (GRCm39)	Y2417*	probably null	Het
Apold1	T	A	6: 134,961,148 (GRCm39)	S201T	probably benign	Het
Arhgap31	G	A	16: 38,424,084 (GRCm39)	P661S	probably benign	Het
Cacfd1	T	C	2: 26,908,396 (GRCm39)	V110A	possibly damaging	Het
Chadl	T	C	15: 81,579,335 (GRCm39)	E98G	possibly damaging	Het
Crxos	T	C	7: 15,631,394 (GRCm39)	Y31H	probably benign	Het
Cyp4f14	A	C	17: 33,130,627 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,689,839 (GRCm39)	I95T	probably benign	Het
Dars1	T	C	1: 128,299,961 (GRCm39)	E341G	probably benign	Het
Dchs1	G	T	7: 105,411,824 (GRCm39)	R1431S	possibly damaging	Het
Dop1a	T	A	9: 86,400,345 (GRCm39)	H1001Q	probably damaging	Het
Efemp1	T	C	11: 28,804,528 (GRCm39)	Y19H	probably benign	Het
Eml1	T	G	12: 108,502,569 (GRCm39)	F726V	probably benign	Het
Fdx1	A	T	9: 51,859,921 (GRCm39)	D136E	probably benign	Het
Ganab	A	T	19: 8,888,192 (GRCm39)	D446V	probably damaging	Het
Gusb	A	G	5: 130,018,953 (GRCm39)	V561A	probably benign	Het
Hcn1	A	T	13: 118,010,406 (GRCm39)	D328V	unknown	Het
Hdgfl1	A	G	13: 26,954,047 (GRCm39)	Y9H	probably damaging	Het
Hes3	T	A	4: 152,371,572 (GRCm39)	S101C	probably damaging	Het
Igkv2-112	T	C	6: 68,197,579 (GRCm39)	S84P	probably benign	Het
Ints9	C	T	14: 65,257,809 (GRCm39)	P330S	possibly damaging	Het
Kdm7a	A	T	6: 39,126,235 (GRCm39)	N583K	probably damaging	Het
Klhl10	C	T	11: 100,338,227 (GRCm39)	T322M	probably damaging	Het
Kmt2c	A	T	5: 25,529,216 (GRCm39)	V1545D	possibly damaging	Het
Laptm5	T	C	4: 130,653,511 (GRCm39)		probably null	Het
Ldlr	A	G	9: 21,658,546 (GRCm39)	T833A	probably damaging	Het
Llgl1	G	T	11: 60,593,648 (GRCm39)	L40F	possibly damaging	Het
Lrrc14	T	C	15: 76,598,756 (GRCm39)	L464S	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Lysmd3	T	A	13: 81,817,386 (GRCm39)	L121H		Het
Map2	T	C	1: 66,464,649 (GRCm39)	S1680P	probably damaging	Het
Med12l	T	C	3: 58,993,784 (GRCm39)	V583A	possibly damaging	Het
Mfsd4b5	A	G	10: 39,846,246 (GRCm39)	Y445H	probably damaging	Het
Morf4l1	G	A	9: 89,979,475 (GRCm39)	P169S	probably benign	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Ola1	A	G	2: 72,929,694 (GRCm39)	L303P	probably damaging	Het
Or1j19	T	A	2: 36,677,409 (GRCm39)	Y291N		Het
Or1o2	T	C	17: 37,542,727 (GRCm39)	D178G	possibly damaging	Het
Or7e166	T	C	9: 19,624,705 (GRCm39)	I194T	probably benign	Het
Or9i2	G	T	19: 13,816,225 (GRCm39)	T104K	probably damaging	Het
Pdlim3	A	T	8: 46,353,562 (GRCm39)	H99L	possibly damaging	Het
Plagl2	G	T	2: 153,073,461 (GRCm39)	T480N	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprq	C	T	10: 107,535,499 (GRCm39)	R422Q	probably benign	Het
Rad18	T	A	6: 112,664,982 (GRCm39)	R51*	probably null	Het
Rpap3	T	A	15: 97,589,185 (GRCm39)	T250S	probably benign	Het
Serpinb11	T	C	1: 107,305,262 (GRCm39)	Y213H	probably benign	Het
Slc15a4	A	G	5: 127,686,080 (GRCm39)	F201L	possibly damaging	Het
Slc25a4	A	G	8: 46,663,896 (GRCm39)	S22P	probably damaging	Het
Slfn1	T	A	11: 83,012,245 (GRCm39)	N120K	probably damaging	Het
Smok3c	T	C	5: 138,063,655 (GRCm39)	S381P	probably benign	Het
Sry	T	A	Y: 2,663,204 (GRCm39)	Q152L	unknown	Het
Taar2	T	A	10: 23,817,248 (GRCm39)	W263R	probably damaging	Het
Thnsl1	T	A	2: 21,216,924 (GRCm39)	V226E	probably benign	Het
Tmeff2	T	C	1: 51,172,279 (GRCm39)		probably null	Het
Tox	A	G	4: 6,842,408 (GRCm39)	Y41H	probably damaging	Het
Trank1	T	A	9: 111,194,957 (GRCm39)	Y994N	probably damaging	Het
Trim9	C	T	12: 70,297,789 (GRCm39)	A713T	probably damaging	Het
Tub	T	A	7: 108,628,533 (GRCm39)	M393K	probably benign	Het
Ube4a	A	G	9: 44,871,333 (GRCm39)	L22P	possibly damaging	Het
Usp47	A	G	7: 111,703,583 (GRCm39)	K1165R	probably damaging	Het
Usp6nl	T	A	2: 6,435,327 (GRCm39)	I362K	probably damaging	Het
Vmn1r217	T	C	13: 23,298,369 (GRCm39)	I178V	probably benign	Het
Vmn1r45	T	A	6: 89,910,074 (GRCm39)	T299S	probably damaging	Het
Vmn2r5	A	T	3: 64,398,726 (GRCm39)	L751*	probably null	Het
Xkr8	G	A	4: 132,458,246 (GRCm39)	P144L	probably damaging	Het
Zfpm2	T	C	15: 40,616,355 (GRCm39)	I35T	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
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
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'- TACTCTAGGGTCATGGGGAAACAG -3'
(R):5'- TCCTTCCAGTGTGGCCTATG -3'

Sequencing Primer
(F):5'- GAACTCTCTAGATACTTAGCCCTGAG -3'
(R):5'- CCTATGTACTTTGAGTTGCAGTGC -3'

Posted On

2020-07-13