Mutagenetix > Incidental Mutation

Incidental Mutation 'R7573:Capns1'

586157

Institutional Source

Beutler Lab

Gene Symbol

Capns1

Ensembl Gene

ENSMUSG00000001794

Gene Name

calpain, small subunit 1

Synonyms

D7Ertd146e, Capa4, Capn4, Capa-4

MMRRC Submission

045659-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29886361-29898236 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29891960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 101 (F101L)

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 damaging
Transcript: ENSMUST00000001845
AA Change: F101L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001845
Gene: ENSMUSG00000001794
AA Change: F101L

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 damaging
Transcript: ENSMUST00000108196
AA Change: F33L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103831
Gene: ENSMUSG00000001794
AA Change: F33L

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 damaging
Transcript: ENSMUST00000126116
AA Change: F101L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117951
Gene: ENSMUSG00000001794
AA Change: F101L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,366,917 (GRCm39)	I49F		Het
1810055G02Rik	T	A	19: 3,765,728 (GRCm39)	M1K	probably null	Het
Abcb1b	G	A	5: 8,878,866 (GRCm39)	C750Y	possibly damaging	Het
Abi2	T	A	1: 60,509,867 (GRCm39)	V412D	probably benign	Het
Alk	C	T	17: 72,207,787 (GRCm39)	V983M	probably damaging	Het
Alppl2	A	T	1: 87,015,953 (GRCm39)	W266R	possibly damaging	Het
Arhgef18	A	G	8: 3,434,918 (GRCm39)	R188G	probably damaging	Het
Atp2c2	A	T	8: 120,478,008 (GRCm39)	D695V	probably damaging	Het
B3gnt4	A	T	5: 123,648,718 (GRCm39)	I28L	probably benign	Het
C2cd3	A	G	7: 100,068,914 (GRCm39)	D536G		Het
Cacna1c	A	G	6: 118,581,406 (GRCm39)	S1733P		Het
Cacna1e	T	C	1: 154,601,911 (GRCm39)		probably benign	Het
Ccdc180	A	G	4: 45,922,015 (GRCm39)	T1030A	probably benign	Het
Cdh23	T	C	10: 60,159,329 (GRCm39)	T2151A	probably benign	Het
Cenpe	T	A	3: 134,953,220 (GRCm39)	L1558Q	probably damaging	Het
Cfap157	T	C	2: 32,667,520 (GRCm39)	H521R	probably benign	Het
Crygs	T	A	16: 22,624,069 (GRCm39)	*179C	probably null	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Cul9	T	C	17: 46,830,836 (GRCm39)	T1686A	probably benign	Het
Cutc	T	C	19: 43,748,382 (GRCm39)	V95A	probably benign	Het
Cxcl3	A	G	5: 90,934,105 (GRCm39)	T26A	probably benign	Het
Dnah9	A	G	11: 66,016,041 (GRCm39)	V400A	probably benign	Het
Dysf	A	T	6: 84,107,104 (GRCm39)	N1139I	possibly damaging	Het
Fam136a	G	A	6: 86,343,667 (GRCm39)	E55K	probably benign	Het
Fam151a	A	G	4: 106,600,502 (GRCm39)	D179G	probably damaging	Het
Fam178b	T	C	1: 36,671,533 (GRCm39)	D196G	probably damaging	Het
Fut9	A	T	4: 25,620,691 (GRCm39)	M41K	probably benign	Het
Gm9195	T	C	14: 72,694,122 (GRCm39)	Q1531R	probably null	Het
Gpr6	A	T	10: 40,946,868 (GRCm39)	V238D	probably damaging	Het
Hoxa2	A	T	6: 52,140,283 (GRCm39)	S234R	probably benign	Het
Itga4	A	G	2: 79,103,337 (GRCm39)	T143A	probably benign	Het
Kcnq2	A	G	2: 180,723,382 (GRCm39)	S693P	probably benign	Het
Kif13b	A	G	14: 65,041,107 (GRCm39)	I1732V	probably benign	Het
Klhl14	A	G	18: 21,785,211 (GRCm39)	V72A	probably benign	Het
Krt1c	T	A	15: 101,722,954 (GRCm39)	D348V	probably benign	Het
Map4k2	A	T	19: 6,394,094 (GRCm39)	E300D	probably benign	Het
Mars1	A	G	10: 127,138,679 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,403 (GRCm39)	D354G	probably benign	Het
Mrpl15	T	C	1: 4,847,778 (GRCm39)	T174A	probably damaging	Het
Myom2	G	A	8: 15,172,450 (GRCm39)	C1183Y	probably damaging	Het
Nfkb2	C	A	19: 46,297,082 (GRCm39)	Q336K	possibly damaging	Het
Nlrp2	A	G	7: 5,320,468 (GRCm39)		probably null	Het
Nlrp9b	T	C	7: 19,753,125 (GRCm39)	L10P	probably damaging	Het
Nrip2	A	G	6: 128,377,232 (GRCm39)	S53G	probably benign	Het
Or13a22	G	A	7: 140,072,912 (GRCm39)	M120I	probably damaging	Het
Or4k36	T	C	2: 111,146,277 (GRCm39)	I151T	probably benign	Het
Or52a5b	A	G	7: 103,416,677 (GRCm39)	M309T	probably benign	Het
Or52z13	C	T	7: 103,246,735 (GRCm39)	L71F	probably benign	Het
Or8b54	A	T	9: 38,686,791 (GRCm39)	K80I	probably damaging	Het
Or8g18	C	T	9: 39,148,977 (GRCm39)	V248I	probably benign	Het
Pak5	A	G	2: 135,958,225 (GRCm39)	S288P	probably damaging	Het
Pjvk	T	C	2: 76,487,809 (GRCm39)	F234L	probably benign	Het
Plekhm2	T	C	4: 141,358,658 (GRCm39)	N616D	probably benign	Het
Pnkp	C	T	7: 44,506,852 (GRCm39)	R9C	probably damaging	Het
Prom1	A	G	5: 44,213,272 (GRCm39)	C154R	probably damaging	Het
Rab3gap2	T	A	1: 185,014,579 (GRCm39)	W1243R	probably benign	Het
Rad17	C	T	13: 100,765,974 (GRCm39)	A385T	probably damaging	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rnf213	T	C	11: 119,349,310 (GRCm39)	C3804R		Het
Ros1	T	A	10: 52,046,072 (GRCm39)	T153S	probably benign	Het
Sema4g	T	C	19: 44,986,010 (GRCm39)	S284P	probably damaging	Het
Septin9	C	T	11: 117,090,571 (GRCm39)		probably benign	Het
Slc2a9	T	C	5: 38,574,569 (GRCm39)	S236G	probably damaging	Het
Slc9c1	T	C	16: 45,398,256 (GRCm39)	F674L	probably benign	Het
Slfn5	A	T	11: 82,849,585 (GRCm39)	K361N	probably damaging	Het
Smad6	A	G	9: 63,929,052 (GRCm39)	L88S	unknown	Het
Smarca4	T	A	9: 21,550,371 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,735,240 (GRCm39)	N198K	probably damaging	Het
Sorcs1	G	A	19: 50,141,234 (GRCm39)	Q1166*	probably null	Het
Stap1	A	G	5: 86,238,854 (GRCm39)	N212S	possibly damaging	Het
Tbx2	C	G	11: 85,724,138 (GRCm39)	A69G	possibly damaging	Het
Tmc1	C	A	19: 20,884,372 (GRCm39)	D23Y	probably damaging	Het
Tmf1	A	T	6: 97,135,455 (GRCm39)	D940E	probably benign	Het
Trim27	T	A	13: 21,364,770 (GRCm39)	C36S	probably damaging	Het
Unc80	G	A	1: 66,560,696 (GRCm39)	G808D	probably damaging	Het
Usp17ld	G	T	7: 102,900,094 (GRCm39)	Y279*	probably null	Het
Usp40	G	A	1: 87,913,794 (GRCm39)	A433V	probably benign	Het
Vmn1r49	G	A	6: 90,049,843 (GRCm39)	A53V	probably benign	Het
Vmn1r84	T	C	7: 12,095,787 (GRCm39)	N302S	probably benign	Het
Wfdc2	A	T	2: 164,407,741 (GRCm39)	I137L	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
IGL02799:Capns1	UTSW	7	29,891,644 (GRCm39)	missense	probably benign	0.05
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
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'- ATATTCATGAGTTCTGTGGCGC -3'
(R):5'- TTTGAGGGCCCCTAAGCTAAAC -3'

Sequencing Primer
(F):5'- AGTTCTGTGGCGCTGACCTC -3'
(R):5'- TAAGCTAAACCCTGGGTCTCAG -3'

Posted On

2019-10-24