Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02799:Capns1'

392271

Institutional Source

Beutler Lab

Gene Symbol

Capns1

Ensembl Gene

ENSMUSG00000001794

Gene Name

calpain, small subunit 1

Synonyms

D7Ertd146e, Capa4, Capn4, Capa-4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02799 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29886361-29898236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29891644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 133 (D133E)

Ref Sequence

ENSEMBL: ENSMUSP00000117951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001845] [ENSMUST00000108196] [ENSMUST00000126116]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001845
AA Change: D133E

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000001845
Gene: ENSMUSG00000001794
AA Change: D133E

Domain	Start	End	E-Value	Type
low complexity region	10	64	N/A	INTRINSIC
EFh	143	171	3.93e0	SMART
EFh	173	201	1.42e1	SMART
EFh	238	265	6.09e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108196
AA Change: D65E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103831
Gene: ENSMUSG00000001794
AA Change: D65E

Domain	Start	End	E-Value	Type
EFh	75	103	3.93e0	SMART
EFh	105	133	1.42e1	SMART
EFh	170	197	6.09e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126116
AA Change: D133E

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117951
Gene: ENSMUSG00000001794
AA Change: D133E

Domain	Start	End	E-Value	Type
low complexity region	10	64	N/A	INTRINSIC
EFh	143	171	3.93e0	SMART
EFh	173	201	1.42e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208688

Meta Mutation Damage Score

0.1768

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality around E11.5. Mutant embryos exhibit cardiac developmental defects, reduced yolk sac vasculature, hemorrhaging in the area between the embryo and amnion, and accumulation of nucleated erythroid cells in the heart chambers, blood vessels, and developing liver. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	G	6: 86,083,234 (GRCm39)	N444S	possibly damaging	Het
Atp2b2	A	T	6: 113,739,813 (GRCm39)	Y823*	probably null	Het
Atp2c1	A	C	9: 105,290,242 (GRCm39)		probably benign	Het
Cast	A	G	13: 74,884,871 (GRCm39)	V361A	probably damaging	Het
Cd69	G	A	6: 129,245,223 (GRCm39)		probably benign	Het
Celsr2	T	A	3: 108,321,378 (GRCm39)	D478V	probably damaging	Het
Cenpf	T	C	1: 189,391,849 (GRCm39)	E661G	probably damaging	Het
Chrna1	A	G	2: 73,404,985 (GRCm39)		probably benign	Het
Clec5a	C	A	6: 40,554,983 (GRCm39)	V138F	probably damaging	Het
Ctsj	T	A	13: 61,151,634 (GRCm39)	I95F	probably benign	Het
Dcaf1	T	A	9: 106,735,139 (GRCm39)	S696T	probably benign	Het
Dcp1a	T	C	14: 30,241,636 (GRCm39)		probably null	Het
Dnajc14	C	T	10: 128,642,725 (GRCm39)	P216S	possibly damaging	Het
Dst	T	C	1: 34,218,930 (GRCm39)	I1790T	possibly damaging	Het
Ehmt1	A	T	2: 24,705,818 (GRCm39)	H789Q	probably damaging	Het
Exoc7	A	T	11: 116,192,007 (GRCm39)	L188Q	probably damaging	Het
Faap100	A	G	11: 120,261,561 (GRCm39)	L823P	probably damaging	Het
Fdxacb1	T	A	9: 50,683,896 (GRCm39)	S620T	probably benign	Het
Fhl2	C	T	1: 43,167,562 (GRCm39)	R177Q	probably benign	Het
Gars1	C	A	6: 55,040,084 (GRCm39)	T337K	probably damaging	Het
Ggta1	A	T	2: 35,312,211 (GRCm39)	F56I	probably damaging	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gpr108	T	A	17: 57,544,482 (GRCm39)	I343F	probably damaging	Het
Gpr12	T	A	5: 146,520,629 (GRCm39)	I98F	possibly damaging	Het
Hk2	A	G	6: 82,737,219 (GRCm39)	L3P	probably damaging	Het
Imp4	C	A	1: 34,479,258 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,720,888 (GRCm39)	V1049M	probably damaging	Het
Klhl24	T	C	16: 19,933,331 (GRCm39)	V314A	probably damaging	Het
Krt32	A	T	11: 99,978,733 (GRCm39)	V107D	possibly damaging	Het
Krtap5-1	G	A	7: 141,850,242 (GRCm39)	Q189*	probably null	Het
Lrrc9	A	G	12: 72,553,178 (GRCm39)	E1360G	probably damaging	Het
Mdc1	G	T	17: 36,157,083 (GRCm39)	L163F	possibly damaging	Het
Mroh1	T	G	15: 76,276,661 (GRCm39)		probably null	Het
Myh8	A	G	11: 67,192,418 (GRCm39)		probably benign	Het
Ndufab1	A	T	7: 121,692,949 (GRCm39)		probably benign	Het
Nek3	A	G	8: 22,648,735 (GRCm39)		probably benign	Het
Ngly1	A	T	14: 16,260,636 (GRCm38)	I107L	probably benign	Het
Nkain4	A	T	2: 180,577,728 (GRCm39)		probably null	Het
Nsd2	T	A	5: 34,022,132 (GRCm39)		probably benign	Het
Or4n4	A	G	14: 50,518,801 (GRCm39)	I303T	probably benign	Het
Or5e1	A	T	7: 108,354,830 (GRCm39)	M256L	probably benign	Het
Or5t9	A	T	2: 86,659,300 (GRCm39)	H68L	probably damaging	Het
Or7e166	T	A	9: 19,624,314 (GRCm39)	Y64N	probably damaging	Het
Or8b12	T	A	9: 37,657,805 (GRCm39)	I125N	probably damaging	Het
Pcnt	G	A	10: 76,248,417 (GRCm39)	Q901*	probably null	Het
Pctp	C	A	11: 89,881,913 (GRCm39)	W81C	probably damaging	Het
Pik3r5	A	T	11: 68,386,773 (GRCm39)	I801F	probably damaging	Het
Ptprj	A	T	2: 90,299,942 (GRCm39)	N193K	probably benign	Het
Rab11fip1	A	T	8: 27,642,788 (GRCm39)	D670E	probably benign	Het
Racgap1	T	C	15: 99,530,628 (GRCm39)	K201E	probably benign	Het
Ranbp2	T	C	10: 58,316,086 (GRCm39)	F2269L	probably damaging	Het
Rint1	C	A	5: 24,024,478 (GRCm39)	A760D	possibly damaging	Het
Ryr2	G	A	13: 11,680,848 (GRCm39)	P3166S	probably damaging	Het
Snap29	A	G	16: 17,240,367 (GRCm39)	N158D	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
St6galnac1	G	T	11: 116,657,473 (GRCm39)		probably benign	Het
Strc	G	A	2: 121,209,717 (GRCm39)	T202I	probably damaging	Het
Stxbp4	A	G	11: 90,385,426 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,309,059 (GRCm39)	M650K	probably damaging	Het
Tbc1d2b	C	T	9: 90,105,487 (GRCm39)		probably benign	Het
Tcfl5	A	T	2: 180,280,419 (GRCm39)	I328N	possibly damaging	Het
Tenm2	A	G	11: 36,164,235 (GRCm39)	Y337H	probably damaging	Het
Tgfbr2	T	C	9: 115,939,204 (GRCm39)	K233E	possibly damaging	Het
Tnk2	T	C	16: 32,484,699 (GRCm39)		probably benign	Het
Trbv13-2	A	G	6: 41,098,471 (GRCm39)		probably benign	Het
Tut4	T	C	4: 108,370,725 (GRCm39)	Y875H	probably benign	Het
Usp6nl	T	A	2: 6,432,360 (GRCm39)		probably benign	Het
Vmn2r62	A	G	7: 42,437,396 (GRCm39)	S363P	possibly damaging	Het
Vnn3	T	C	10: 23,727,869 (GRCm39)	I93T	possibly damaging	Het
Ylpm1	A	G	12: 85,091,258 (GRCm39)	D1108G	probably damaging	Het
Zbtb17	G	A	4: 141,190,691 (GRCm39)	G170S	probably benign	Het
Zfyve26	T	C	12: 79,320,084 (GRCm39)	E1087G	probably benign	Het

Other mutations in Capns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Capns1	APN	7	29,889,565 (GRCm39)	missense	probably benign	0.00
IGL01128:Capns1	APN	7	29,889,558 (GRCm39)	missense	probably benign	0.00
IGL02175:Capns1	APN	7	29,889,957 (GRCm39)	missense	probably benign	0.28
IGL02966:Capns1	APN	7	29,891,618 (GRCm39)	missense	probably damaging	1.00
R0578:Capns1	UTSW	7	29,893,453 (GRCm39)	unclassified	probably benign
R1484:Capns1	UTSW	7	29,893,511 (GRCm39)	unclassified	probably benign
R2153:Capns1	UTSW	7	29,891,765 (GRCm39)	missense	probably damaging	1.00
R5111:Capns1	UTSW	7	29,891,944 (GRCm39)	missense	probably benign
R5323:Capns1	UTSW	7	29,887,147 (GRCm39)	missense	possibly damaging	0.85
R5350:Capns1	UTSW	7	29,889,551 (GRCm39)	missense	probably damaging	1.00
R6684:Capns1	UTSW	7	29,893,324 (GRCm39)	missense	probably damaging	0.98
R7573:Capns1	UTSW	7	29,891,960 (GRCm39)	missense	probably damaging	1.00
R7611:Capns1	UTSW	7	29,889,539 (GRCm39)	missense	probably damaging	1.00
R8828:Capns1	UTSW	7	29,889,963 (GRCm39)	missense	probably damaging	1.00
R9076:Capns1	UTSW	7	29,893,510 (GRCm39)	start codon destroyed	probably null
R9115:Capns1	UTSW	7	29,889,978 (GRCm39)	missense	probably benign	0.31
R9526:Capns1	UTSW	7	29,891,612 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTAAGTCTGTGTCCTCCAAG -3'
(R):5'- AGTTCCCATCCCGGTTTATGG -3'

Sequencing Primer
(F):5'- CTGTGTCCTCCAAGTATGAAGGC -3'
(R):5'- CCGGTTTATGGTCTCCAGAC -3'

Posted On

2016-06-09