Mutagenetix > Incidental Mutation

Incidental Mutation 'R7544:Capn7'

584113

Institutional Source

Beutler Lab

Gene Symbol

Capn7

Ensembl Gene

ENSMUSG00000021893

Gene Name

calpain 7

Synonyms

PalBH

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.825) question?

Stock #

R7544 (G1)

Quality Score

205.009

Status

Not validated

Chromosome

Chromosomal Location

31336638-31371986 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 31340050 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 40 (L40V)

Ref Sequence

ENSEMBL: ENSMUSP00000022451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000143472] [ENSMUST00000152182]

AlphaFold

Q9R1S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022451
AA Change: L40V

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

SMART Domains

Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: L40V

Domain	Start	End	E-Value	Type
MIT	3	77	1.54e0	SMART
MIT	83	160	1.07e-17	SMART
CysPc	218	547	1.08e-91	SMART
Blast:CysPc	550	620	4e-39	BLAST
calpain_III	686	810	2.78e-39	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000143472
AA Change: L40V

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

SMART Domains

Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: L40V

Domain	Start	End	E-Value	Type
MIT	3	77	1.54e0	SMART
MIT	83	160	1.07e-17	SMART
CysPc	218	500	2.32e-50	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000152182
AA Change: L40V

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

SMART Domains

Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: L40V

Domain	Start	End	E-Value	Type
MIT	3	77	1.54e0	SMART
MIT	83	160	1.07e-17	SMART
CysPc	218	500	2.32e-50	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.] Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene frequently die before weaning. Survivors display reduced body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
4933427D14Rik	C	T	11: 72,198,939	V40I	probably damaging	Het
Abcb11	T	C	2: 69,265,486	K837E	probably benign	Het
Arhgef10	T	C	8: 14,979,854	S919P	probably benign	Het
Atxn2	T	C	5: 121,781,368	S530P	probably damaging	Het
Bicc1	T	C	10: 70,956,374	E268G	possibly damaging	Het
Cd28	A	T	1: 60,769,700	N191I	probably damaging	Het
Cfap69	G	A	5: 5,595,936	T588M	not run	Het
Csmd1	T	C	8: 16,092,296	E1531G	probably damaging	Het
Cyp4a14	T	A	4: 115,491,086	D398V	probably damaging	Het
Dchs2	T	C	3: 83,355,127	S2901P	probably damaging	Het
Ddx11	G	A	17: 66,126,285	G37S	probably damaging	Het
Diaph1	A	T	18: 37,893,269		probably null	Het
Ech1	T	C	7: 28,825,967	V49A	probably benign	Het
Elovl4	T	C	9: 83,783,218	Y196C	probably damaging	Het
Ern2	G	A	7: 122,173,199	L679F	probably benign	Het
Fbf1	A	T	11: 116,165,833	M17K	probably benign	Het
Flvcr1	C	A	1: 191,025,946	G50W	probably damaging	Het
Fryl	A	G	5: 73,081,039	S1455P	probably benign	Het
Fzd9	A	G	5: 135,249,862	Y390H	probably damaging	Het
Gm10436	T	A	12: 88,176,080	Y451F	probably benign	Het
Gm12800	T	C	4: 101,911,402	S317P	possibly damaging	Het
Gm884	T	C	11: 103,615,448	E1898G	probably benign	Het
Gnai3	C	T	3: 108,118,386	V126M		Het
Gpc5	T	C	14: 115,428,173	F470L	probably damaging	Het
Grin1	T	C	2: 25,305,074	N332S	probably benign	Het
Gtf3c5	T	A	2: 28,579,542	I117F	possibly damaging	Het
Hydin	A	T	8: 110,589,525	S4350C	probably benign	Het
Kcnh4	G	T	11: 100,757,080	H152Q	probably benign	Het
Kcnk12	A	T	17: 87,746,065	S390T	possibly damaging	Het
Klra9	T	G	6: 130,191,220	T28P	probably benign	Het
Lef1	T	A	3: 131,194,765	I327N	probably damaging	Het
Lin54	A	G	5: 100,485,270	V185A	possibly damaging	Het
Lrrc4b	A	T	7: 44,462,551	I616F	probably damaging	Het
Mad2l1bp	A	G	17: 46,152,844	Y85H	possibly damaging	Het
Mars	T	C	10: 127,311,610	E7G	probably benign	Het
Mpnd	G	A	17: 56,011,666	R225H	probably benign	Het
Muc4	T	A	16: 32,736,198	M1K	probably null	Het
Nckap5	A	G	1: 126,026,211	L868S	possibly damaging	Het
Ndst1	G	A	18: 60,697,184	T618M	probably damaging	Het
Npas1	A	T	7: 16,460,974		probably null	Het
Nr2f2	A	T	7: 70,354,751	V384D	probably damaging	Het
Olfr1208	T	A	2: 88,897,361	I79F	probably damaging	Het
Olfr378	A	G	11: 73,425,770	L71P	probably damaging	Het
Olfr516	A	G	7: 108,845,321	S230P	probably benign	Het
Paip1	T	A	13: 119,445,801	F188I	probably damaging	Het
Pcdha4	A	T	18: 36,953,723	I320L	probably benign	Het
Peg10	TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC	T	6: 4,756,427		probably null	Het
Pgpep1	C	T	8: 70,650,518	G110R	unknown	Het
Pidd1	T	A	7: 141,440,339	H558L	possibly damaging	Het
Ppp1r1a	C	T	15: 103,531,349		probably null	Het
Prkcg	A	G	7: 3,310,565	D96G	probably benign	Het
Prpf40b	A	G	15: 99,306,018	N154S	probably benign	Het
Psg17	A	G	7: 18,819,972	Y118H	probably benign	Het
Ptpn12	A	G	5: 21,009,511	I209T	probably damaging	Het
Reln	T	A	5: 21,976,278	K1835*	probably null	Het
Sf3b3	T	C	8: 110,838,283	M298V	probably benign	Het
Slc5a3	T	A	16: 92,077,794	N246K	probably benign	Het
Slmap	T	A	14: 26,429,846	E522D	probably damaging	Het
Slmap	C	T	14: 26,429,848	E522K	probably damaging	Het
Tcp10c	T	A	17: 13,360,998	L230Q	probably damaging	Het
Tdo2	A	G	3: 81,971,635		probably null	Het
Tet3	A	T	6: 83,404,641	W182R	probably damaging	Het
Tmem151a	T	A	19: 5,071,867	M35L	unknown	Het
Tom1l2	TTGATGATG	TTGATG	11: 60,280,214		probably benign	Het
Trak2	A	T	1: 58,921,068		probably null	Het
Trappc11	T	A	8: 47,522,414	E256D	possibly damaging	Het
Trim62	C	T	4: 128,902,553	T281I	probably benign	Het
Trip13	T	C	13: 73,932,902	E115G	probably benign	Het
Trp63	A	G	16: 25,802,087	T10A	probably benign	Het
Urah	A	T	7: 140,835,652	H11L	probably damaging	Het
Usp39	G	A	6: 72,342,908	T109I	probably damaging	Het
Wfikkn2	T	C	11: 94,237,912	T468A	probably benign	Het
Zfhx4	T	G	3: 5,412,815	S3497A	probably damaging	Het
Zfp85	C	T	13: 67,749,065	R296H	probably benign	Het

Other mutations in Capn7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Capn7	APN	14	31363578	missense	probably benign	0.41
IGL01481:Capn7	APN	14	31355339	missense	probably damaging	1.00
IGL03231:Capn7	APN	14	31355290	missense	probably damaging	1.00
R0018:Capn7	UTSW	14	31354112	nonsense	probably null
R0018:Capn7	UTSW	14	31354112	nonsense	probably null
R0060:Capn7	UTSW	14	31365604	splice site	probably benign
R0060:Capn7	UTSW	14	31365604	splice site	probably benign
R0077:Capn7	UTSW	14	31368115	missense	probably benign	0.10
R0195:Capn7	UTSW	14	31365581	missense	probably damaging	1.00
R0316:Capn7	UTSW	14	31347809	missense	probably benign	0.00
R0815:Capn7	UTSW	14	31369757	missense	possibly damaging	0.85
R0863:Capn7	UTSW	14	31369757	missense	possibly damaging	0.85
R1697:Capn7	UTSW	14	31360160	missense	probably damaging	1.00
R1954:Capn7	UTSW	14	31360150	missense	probably damaging	1.00
R2096:Capn7	UTSW	14	31349887	critical splice donor site	probably null
R3121:Capn7	UTSW	14	31359210	missense	probably damaging	1.00
R3122:Capn7	UTSW	14	31359210	missense	probably damaging	1.00
R4409:Capn7	UTSW	14	31355339	missense	probably damaging	1.00
R4676:Capn7	UTSW	14	31359259	missense	possibly damaging	0.72
R4799:Capn7	UTSW	14	31360557	missense	probably benign	0.01
R5023:Capn7	UTSW	14	31352426	missense	probably damaging	0.99
R5129:Capn7	UTSW	14	31344511	missense	probably damaging	0.99
R5460:Capn7	UTSW	14	31368203	critical splice donor site	probably null
R5608:Capn7	UTSW	14	31370707	missense	probably damaging	1.00
R5665:Capn7	UTSW	14	31369802	missense	probably benign	0.00
R5786:Capn7	UTSW	14	31360145	missense	probably damaging	1.00
R6186:Capn7	UTSW	14	31370918	missense	probably damaging	1.00
R6190:Capn7	UTSW	14	31363603	missense	probably benign	0.10
R6411:Capn7	UTSW	14	31340096	missense	probably benign	0.00
R6514:Capn7	UTSW	14	31344554	missense	probably benign	0.00
R6838:Capn7	UTSW	14	31354173	missense	possibly damaging	0.95
R7041:Capn7	UTSW	14	31336685	unclassified	probably benign
R7047:Capn7	UTSW	14	31336685	unclassified	probably benign
R7124:Capn7	UTSW	14	31336685	unclassified	probably benign
R7224:Capn7	UTSW	14	31370721	nonsense	probably null
R7417:Capn7	UTSW	14	31370706	missense	probably damaging	1.00
R7419:Capn7	UTSW	14	31349822	missense	probably benign	0.02
R7699:Capn7	UTSW	14	31352444	missense	probably benign	0.00
R7700:Capn7	UTSW	14	31352444	missense	probably benign	0.00
R7775:Capn7	UTSW	14	31352410	missense	probably benign	0.00
R7824:Capn7	UTSW	14	31352410	missense	probably benign	0.00
R7908:Capn7	UTSW	14	31366245	critical splice donor site	probably null
R8057:Capn7	UTSW	14	31370979	missense	probably benign	0.27
R8176:Capn7	UTSW	14	31347772	missense	probably benign	0.03
R8270:Capn7	UTSW	14	31358679	missense	probably damaging	0.97
R9103:Capn7	UTSW	14	31369775	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- AAATCACGGCTACTCTGAAGAAG -3'
(R):5'- TGTCAAGATCCAAGGCAGAG -3'

Sequencing Primer
(F):5'- GAAGTGTTTAATAACTGGGTTCTCAG -3'
(R):5'- TCAAGATCCAAGGCAGAGAGACAG -3'

Posted On

2019-10-17