Mutagenetix > Incidental Mutation

Incidental Mutation 'R4676:Capn7'

349602

Institutional Source

Beutler Lab

Gene Symbol

Capn7

Ensembl Gene

ENSMUSG00000021893

Gene Name

calpain 7

Synonyms

PalBH

MMRRC Submission

042013-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.819) question?

Stock #

R4676 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31336638-31371986 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31359259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 411 (H411L)

Ref Sequence

ENSEMBL: ENSMUSP00000022451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000140002] [ENSMUST00000143472] [ENSMUST00000152182]

AlphaFold

Q9R1S8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022451
AA Change: H411L

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: H411L

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 benign
Transcript: ENSMUST00000140002

SMART Domains

Protein: ENSMUSP00000117152
Gene: ENSMUSG00000021892

Domain	Start	End	E-Value	Type
Pfam:SH3BP5	42	272	2.3e-99	PFAM
low complexity region	323	335	N/A	INTRINSIC
low complexity region	407	428	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143472
AA Change: H411L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: H411L

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

possibly damaging
Transcript: ENSMUST00000152182
AA Change: H411L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: H411L

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

Meta Mutation Damage Score

0.1490

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,150,652	I13N	probably damaging	Het
Abcd3	T	A	3: 121,774,166	T409S	possibly damaging	Het
Acad12	C	A	5: 121,607,171	W317L	probably damaging	Het
Acap1	T	A	11: 69,889,468	M50L	probably benign	Het
Acvr1b	T	A	15: 101,202,986	V343E	probably damaging	Het
Adgb	C	A	10: 10,426,710	G371W	probably damaging	Het
AF529169	A	G	9: 89,601,553	V597A	probably damaging	Het
Akap9	A	G	5: 4,032,774	K1966R	probably damaging	Het
Akap9	C	T	5: 4,064,515	Q48*	probably null	Het
Ano10	T	C	9: 122,263,787	R159G	probably damaging	Het
Anxa7	T	C	14: 20,467,915	M128V	probably benign	Het
Arhgef40	C	A	14: 51,990,959	C554*	probably null	Het
Asna1	C	T	8: 85,018,873	A219T	probably benign	Het
Atf6	T	C	1: 170,787,410	Y538C	probably damaging	Het
Atp8b1	A	C	18: 64,538,678	D1091E	probably benign	Het
BC034090	A	G	1: 155,226,264	Y85H	possibly damaging	Het
BC067074	C	A	13: 113,368,807	L2157I	probably damaging	Het
BC067074	T	G	13: 113,368,808	L2157R	probably damaging	Het
Bcas2	A	G	3: 103,175,701		probably benign	Het
Bnc2	T	C	4: 84,292,819	N463D	probably damaging	Het
Cavin3	T	C	7: 105,481,113	E164G	probably damaging	Het
Ccdc191	T	C	16: 43,939,173		probably benign	Het
Ccdc88b	A	G	19: 6,853,000	V858A	probably benign	Het
Clcn3	A	G	8: 60,930,651		probably benign	Het
Commd6	T	C	14: 101,640,284		probably benign	Het
Cul3	G	A	1: 80,271,674	L561F	probably damaging	Het
Cyfip1	T	A	7: 55,875,013	I131N	probably damaging	Het
Dlgap3	T	A	4: 127,233,761	Y741N	probably damaging	Het
Dnah5	A	T	15: 28,295,260	I1380F	possibly damaging	Het
Dync1h1	G	T	12: 110,662,541	L4177F	probably damaging	Het
Ethe1	G	A	7: 24,607,894	V178M	probably damaging	Het
Flnc	A	T	6: 29,445,154		probably null	Het
Glt8d1	T	C	14: 31,006,692	F26L	probably benign	Het
Gm5493	T	A	17: 22,748,081	D63E	probably benign	Het
Gm9996	T	A	10: 29,143,838		probably benign	Het
Gnl2	T	G	4: 125,053,473	S629R	possibly damaging	Het
Gpbp1l1	T	C	4: 116,590,265	S381P	probably damaging	Het
Igsf10	A	C	3: 59,325,949	F1788V	probably benign	Het
Inpp5d	C	A	1: 87,715,142	P935Q	probably damaging	Het
Itch	A	C	2: 155,199,435	I468L	probably benign	Het
Itga5	A	T	15: 103,357,210	Y192N	probably damaging	Het
Itih3	T	A	14: 30,918,949	Q302L	probably null	Het
Itih3	T	A	14: 30,921,686	Q121L	possibly damaging	Het
Kctd17	T	A	15: 78,435,759		probably benign	Het
Lsm1	T	C	8: 25,793,689	L43P	probably damaging	Het
Magi3	A	T	3: 104,015,825	M1192K	probably benign	Het
Mecom	A	G	3: 30,268,668		probably benign	Het
Mtmr3	A	T	11: 4,527,855	F63Y	probably benign	Het
Naa16	A	G	14: 79,336,348		probably benign	Het
Neto1	A	T	18: 86,398,302	T45S	possibly damaging	Het
Nlrp4a	A	T	7: 26,450,229	R420S	probably damaging	Het
Nr1h4	T	C	10: 89,473,874	D317G	probably damaging	Het
Olfr1497	T	A	19: 13,795,474	I46F	possibly damaging	Het
Olfr1504	C	T	19: 13,887,401	D270N	probably damaging	Het
Olfr920	A	G	9: 38,755,659		probably benign	Het
Pde5a	A	T	3: 122,747,893	M11L	possibly damaging	Het
Plxnb1	G	A	9: 109,110,435	R1416Q	possibly damaging	Het
Polm	A	T	11: 5,835,749	Y141*	probably null	Het
Rxfp1	A	G	3: 79,705,668	F32L	probably damaging	Het
Scrt1	T	A	15: 76,521,668	D13V	possibly damaging	Het
Slc1a7	T	A	4: 107,977,674	V79E	possibly damaging	Het
Snurf	T	C	7: 59,995,522	Q48R	probably benign	Het
Srek1	T	C	13: 103,758,187		probably benign	Het
Stxbp5l	T	C	16: 37,255,884	S267G	probably damaging	Het
Taf5	C	T	19: 47,074,970	R320W	probably damaging	Het
Tars2	A	T	3: 95,753,091	N106K	probably damaging	Het
Tatdn3	A	T	1: 191,049,334	L207Q	probably damaging	Het
Tdrd6	T	C	17: 43,627,610	E849G	probably damaging	Het
Tedc2	T	C	17: 24,220,011	T111A	probably benign	Het
Tfg	T	A	16: 56,694,491		probably null	Het
Tgds	A	T	14: 118,116,231	S225T	probably benign	Het
Tnks2	T	A	19: 36,875,271	Y134*	probably null	Het
Trappc1	T	A	11: 69,325,530	V134D	probably damaging	Het
Ttc3	C	A	16: 94,442,761	P853Q	probably damaging	Het
Ttc7	C	A	17: 87,370,735		probably benign	Het
Ttf1	A	G	2: 29,074,594	S643G	probably damaging	Het
Tubgcp3	A	T	8: 12,650,171	S338T	probably damaging	Het
Ugt1a6a	T	C	1: 88,139,285	I271T	possibly damaging	Het
Vipas39	T	A	12: 87,241,301	Y445F	probably damaging	Het
Vmn1r31	A	C	6: 58,472,013	I289S	probably damaging	Het
Wdr92	T	C	11: 17,229,794	V265A	probably benign	Het
Zfp112	A	G	7: 24,126,260	E551G	probably damaging	Het
Zfp397	T	A	18: 23,960,797	Y446*	probably null	Het
Zfp442	A	T	2: 150,409,606	H124Q	probably damaging	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
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
R7544:Capn7	UTSW	14	31340050	missense	probably damaging	1.00
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
R9732:Capn7	UTSW	14	31368074	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTTCCAGGTCAAATGAGGAGTGG -3'
(R):5'- AGGTGACAGCTTTGCAATCTC -3'

Sequencing Primer
(F):5'- TCAAATGAGGAGTGGGTATCATACTG -3'
(R):5'- AGGTGACAGCTTTGCAATCTCTATTC -3'

Posted On

2015-10-08