Mutagenetix > Incidental Mutation

Incidental Mutation 'R5129:Capn7'

394922

Institutional Source

Beutler Lab

Gene Symbol

Capn7

Ensembl Gene

ENSMUSG00000021893

Gene Name

calpain 7

Synonyms

PalBH

MMRRC Submission

042717-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.846) question?

Stock #

R5129 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31336638-31371986 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31344511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 94 (V94A)

Ref Sequence

ENSEMBL: ENSMUSP00000119214 (fasta)

Gene Model

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

AlphaFold

Q9R1S8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022451
AA Change: V94A

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: V94A

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: V94A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: V94A

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: V94A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: V94A

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

0.1530

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (51/52)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,561,361		noncoding transcript	Het
Abcf1	C	T	17: 35,960,795		probably benign	Het
Adamts14	T	A	10: 61,249,618	D209V	probably benign	Het
Aldh3b1	A	G	19: 3,915,336	F392L	probably benign	Het
Atp1a2	A	T	1: 172,275,955	D999E	probably benign	Het
Cdh13	A	G	8: 119,095,215	D271G	probably damaging	Het
Cntnap5b	G	A	1: 100,379,090	G844D	probably damaging	Het
Col6a4	T	C	9: 106,013,377	E1906G	probably damaging	Het
Daw1	T	C	1: 83,205,903	Y225H	probably damaging	Het
Dvl3	T	A	16: 20,517,340	M49K	possibly damaging	Het
Eef1b2	T	G	1: 63,179,580	S175A	probably damaging	Het
Epb41l1	A	T	2: 156,509,281	Y425F	possibly damaging	Het
Fam43b	A	T	4: 138,395,472	L179*	probably null	Het
Fbxw28	A	G	9: 109,326,603	L314P	probably damaging	Het
Fstl4	C	A	11: 53,186,439	D674E	probably damaging	Het
G3bp1	T	C	11: 55,489,116	V92A	possibly damaging	Het
Gm3604	A	T	13: 62,369,774	Y257N	probably benign	Het
Gm5415	C	A	1: 32,545,479	R450M	probably damaging	Het
Gm5415	T	A	1: 32,545,480	R450W	probably damaging	Het
Gm5900	A	G	7: 104,950,016		noncoding transcript	Het
Hectd4	G	A	5: 121,343,510	V3041M	possibly damaging	Het
Hivep2	A	G	10: 14,130,864	K1069E	probably damaging	Het
Hlf	T	C	11: 90,390,252	D38G	probably benign	Het
Hsd3b7	C	A	7: 127,801,134	C18*	probably null	Het
Kdm5a	T	C	6: 120,405,022	C676R	probably damaging	Het
Klhdc7b	A	G	15: 89,388,548	Y1211C	probably damaging	Het
Krt78	C	A	15: 101,947,580	V599L	possibly damaging	Het
Mroh9	C	G	1: 163,060,760	G249R	probably damaging	Het
Nbas	T	C	12: 13,390,960	L1097P	probably damaging	Het
Nf2	A	C	11: 4,816,145	D87E	probably benign	Het
Olfr113	T	C	17: 37,575,180	Y81C	probably damaging	Het
Olfr961	T	A	9: 39,647,494	I256N	probably benign	Het
Ppil3	A	G	1: 58,440,833		probably benign	Het
Prrc2a	T	C	17: 35,160,178	E276G	unknown	Het
Spata16	A	G	3: 26,667,564	E78G	probably damaging	Het
Tlr3	A	T	8: 45,402,981	I54K	probably damaging	Het
Tmem72	A	G	6: 116,702,013	L34P	probably damaging	Het
Triobp	A	G	15: 78,961,096	R213G	probably benign	Het
Tyrp1	T	A	4: 80,846,607	V7D	probably damaging	Het
Uhrf2	A	G	19: 30,075,221	I372V	probably benign	Het
Uty	T	C	Y: 1,158,592	T484A	probably benign	Het
Vcan	T	C	13: 89,690,240	D2395G	probably damaging	Het
Vmn1r225	T	A	17: 20,503,116	I273N	probably damaging	Het
Zfp451	C	T	1: 33,802,933		probably benign	Het
Zfp457	T	C	13: 67,293,356	E385G	probably benign	Het
Zfp74	C	T	7: 29,932,455	M121I	probably benign	Het
Zfp866	A	T	8: 69,767,709		probably null	Het
Zfp874a	A	T	13: 67,442,981	C195S	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
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
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'- CCCTGATGTCTAAATAATTGGGTTTGG -3'
(R):5'- TGATAGAATGGCAGGGCTCC -3'

Sequencing Primer
(F):5'- CTAAATAATTGGGTTTGGGCAGG -3'
(R):5'- GGGCTCCTTCCAAATAAATAAATCTG -3'

Posted On

2016-06-21