Mutagenetix > Incidental Mutation

Incidental Mutation 'R0316:Capn7'

34215

Institutional Source

Beutler Lab

Gene Symbol

Capn7

Ensembl Gene

ENSMUSG00000021893

Gene Name

calpain 7

Synonyms

PalBH

MMRRC Submission

038526-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.818) question?

Stock #

R0316 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31058595-31093943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31069766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 197 (C197S)

Ref Sequence

ENSEMBL: ENSMUSP00000119214 (fasta)

Gene Model

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

AlphaFold

Q9R1S8

Predicted Effect

probably benign
Transcript: ENSMUST00000022451
AA Change: C197S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: C197S

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: ENSMUST00000143472
AA Change: C197S

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

SMART Domains

Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: C197S

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 benign
Transcript: ENSMUST00000152182
AA Change: C197S

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

SMART Domains

Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: C197S

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.2%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,888,765 (GRCm39)	F276I	probably damaging	Het
Ado	A	G	10: 67,384,548 (GRCm39)	L19P	possibly damaging	Het
Ago2	T	C	15: 73,002,725 (GRCm39)	H169R	probably damaging	Het
Asic1	G	A	15: 99,569,819 (GRCm39)	A47T	probably benign	Het
Atg16l2	A	T	7: 100,942,603 (GRCm39)	I364N	probably damaging	Het
C130050O18Rik	G	A	5: 139,400,313 (GRCm39)	R122Q	probably damaging	Het
Casp16	T	C	17: 23,771,066 (GRCm39)	D113G	probably damaging	Het
Cdh18	T	A	15: 23,366,999 (GRCm39)	V235D	probably damaging	Het
Clca4a	G	T	3: 144,659,525 (GRCm39)	T777K	probably damaging	Het
Col17a1	A	G	19: 47,673,972 (GRCm39)		probably null	Het
Col5a3	C	A	9: 20,686,621 (GRCm39)	D1335Y	unknown	Het
Cpxm1	T	C	2: 130,235,091 (GRCm39)	E576G	probably damaging	Het
Dcbld2	T	C	16: 58,253,808 (GRCm39)	S182P	probably damaging	Het
Dclk1	C	T	3: 55,410,313 (GRCm39)	S616L	probably damaging	Het
Dll4	C	A	2: 119,161,634 (GRCm39)	D405E	probably damaging	Het
Dnah1	G	A	14: 31,000,108 (GRCm39)	R2462C	probably benign	Het
Dnah3	A	T	7: 119,564,882 (GRCm39)	Y2594N	possibly damaging	Het
Ess2	G	A	16: 17,727,958 (GRCm39)	P103S	probably benign	Het
Fam110a	C	A	2: 151,812,006 (GRCm39)	A255S	probably benign	Het
Fbn2	G	A	18: 58,246,397 (GRCm39)	R502W	probably damaging	Het
Fgl2	A	G	5: 21,580,521 (GRCm39)	S288G	possibly damaging	Het
Gm1527	T	C	3: 28,969,923 (GRCm39)	S342P	probably damaging	Het
Gm19668	A	T	10: 77,634,564 (GRCm39)		probably benign	Het
Gm5901	A	T	7: 105,026,522 (GRCm39)	T97S	probably damaging	Het
Greb1l	A	G	18: 10,547,420 (GRCm39)	Y1546C	probably damaging	Het
Impg1	A	T	9: 80,249,347 (GRCm39)	S619T	probably damaging	Het
Itih2	C	A	2: 10,110,057 (GRCm39)	Q565H	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,464 (GRCm39)	N386K	probably benign	Het
Lama3	T	C	18: 12,652,934 (GRCm39)	M218T	probably benign	Het
Lipg	T	C	18: 75,094,012 (GRCm39)	S12G	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mex3d	G	T	10: 80,217,505 (GRCm39)	P571T	probably damaging	Het
Neb	A	C	2: 52,085,482 (GRCm39)	Y1538D	possibly damaging	Het
Nsd1	T	C	13: 55,361,584 (GRCm39)	I184T	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5b99	T	A	19: 12,976,766 (GRCm39)	C139S	probably damaging	Het
Or5w18	T	C	2: 87,633,525 (GRCm39)	F264S	probably damaging	Het
Pacs1	T	C	19: 5,185,149 (GRCm39)		silent	Het
Pdcd11	T	C	19: 47,101,611 (GRCm39)	V932A	probably damaging	Het
Pkd2	A	G	5: 104,625,032 (GRCm39)	D276G	probably damaging	Het
Pkia	T	A	3: 7,502,499 (GRCm39)	D25E	probably damaging	Het
Plxna2	A	C	1: 194,326,458 (GRCm39)	S131R	probably damaging	Het
Prelid1	T	C	13: 55,472,220 (GRCm39)	V132A	possibly damaging	Het
Psma3	T	C	12: 71,030,163 (GRCm39)	Y59H	probably benign	Het
Ptchd3	A	C	11: 121,732,916 (GRCm39)	E602A	possibly damaging	Het
Ptpro	T	C	6: 137,353,987 (GRCm39)	V121A	possibly damaging	Het
Ptprt	A	G	2: 161,449,239 (GRCm39)	L878P	probably damaging	Het
Pxn	G	A	5: 115,692,027 (GRCm39)	G370S	probably damaging	Het
Rcn2	G	T	9: 55,949,453 (GRCm39)	A40S	probably benign	Het
Rnf215	A	G	11: 4,089,760 (GRCm39)	N258D	probably damaging	Het
Rnpc3	T	C	3: 113,423,622 (GRCm39)	T28A	probably damaging	Het
Rtel1	T	A	2: 180,997,795 (GRCm39)	V1100E	possibly damaging	Het
Scn3a	T	A	2: 65,291,173 (GRCm39)	I1858F	probably damaging	Het
Slc9c1	G	A	16: 45,400,595 (GRCm39)	R735Q	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata13	A	G	14: 60,929,788 (GRCm39)	T449A	probably benign	Het
Svep1	A	G	4: 58,072,737 (GRCm39)	W2191R	probably damaging	Het
Thbs1	G	A	2: 117,948,055 (GRCm39)	R405H	probably damaging	Het
Tnn	A	G	1: 159,948,137 (GRCm39)	Y859H	possibly damaging	Het
Tonsl	A	G	15: 76,513,500 (GRCm39)	S1245P	possibly damaging	Het
Tpcn1	G	A	5: 120,677,324 (GRCm39)	T661M	probably damaging	Het
Trap1	A	G	16: 3,863,424 (GRCm39)	F533L	probably benign	Het
Ttc23	T	C	7: 67,328,821 (GRCm39)		probably null	Het
Vax2	T	C	6: 83,688,426 (GRCm39)	S50P	possibly damaging	Het
Vmn1r5	A	C	6: 56,962,784 (GRCm39)	E153A	probably benign	Het
Vmn2r14	G	T	5: 109,366,762 (GRCm39)	P486Q	probably benign	Het
Vmn2r96	T	A	17: 18,802,827 (GRCm39)	F246I	probably damaging	Het
Zc3h10	C	A	10: 128,380,624 (GRCm39)	E244D	probably damaging	Het
Zdhhc18	T	A	4: 133,340,966 (GRCm39)	K265*	probably null	Het

Other mutations in Capn7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Capn7	APN	14	31,085,535 (GRCm39)	missense	probably benign	0.41
IGL01481:Capn7	APN	14	31,077,296 (GRCm39)	missense	probably damaging	1.00
IGL03231:Capn7	APN	14	31,077,247 (GRCm39)	missense	probably damaging	1.00
R0018:Capn7	UTSW	14	31,076,069 (GRCm39)	nonsense	probably null
R0018:Capn7	UTSW	14	31,076,069 (GRCm39)	nonsense	probably null
R0060:Capn7	UTSW	14	31,087,561 (GRCm39)	splice site	probably benign
R0060:Capn7	UTSW	14	31,087,561 (GRCm39)	splice site	probably benign
R0077:Capn7	UTSW	14	31,090,072 (GRCm39)	missense	probably benign	0.10
R0195:Capn7	UTSW	14	31,087,538 (GRCm39)	missense	probably damaging	1.00
R0815:Capn7	UTSW	14	31,091,714 (GRCm39)	missense	possibly damaging	0.85
R0863:Capn7	UTSW	14	31,091,714 (GRCm39)	missense	possibly damaging	0.85
R1697:Capn7	UTSW	14	31,082,117 (GRCm39)	missense	probably damaging	1.00
R1954:Capn7	UTSW	14	31,082,107 (GRCm39)	missense	probably damaging	1.00
R2096:Capn7	UTSW	14	31,071,844 (GRCm39)	critical splice donor site	probably null
R3121:Capn7	UTSW	14	31,081,167 (GRCm39)	missense	probably damaging	1.00
R3122:Capn7	UTSW	14	31,081,167 (GRCm39)	missense	probably damaging	1.00
R4409:Capn7	UTSW	14	31,077,296 (GRCm39)	missense	probably damaging	1.00
R4676:Capn7	UTSW	14	31,081,216 (GRCm39)	missense	possibly damaging	0.72
R4799:Capn7	UTSW	14	31,082,514 (GRCm39)	missense	probably benign	0.01
R5023:Capn7	UTSW	14	31,074,383 (GRCm39)	missense	probably damaging	0.99
R5129:Capn7	UTSW	14	31,066,468 (GRCm39)	missense	probably damaging	0.99
R5460:Capn7	UTSW	14	31,090,160 (GRCm39)	critical splice donor site	probably null
R5608:Capn7	UTSW	14	31,092,664 (GRCm39)	missense	probably damaging	1.00
R5665:Capn7	UTSW	14	31,091,759 (GRCm39)	missense	probably benign	0.00
R5786:Capn7	UTSW	14	31,082,102 (GRCm39)	missense	probably damaging	1.00
R6186:Capn7	UTSW	14	31,092,875 (GRCm39)	missense	probably damaging	1.00
R6190:Capn7	UTSW	14	31,085,560 (GRCm39)	missense	probably benign	0.10
R6411:Capn7	UTSW	14	31,062,053 (GRCm39)	missense	probably benign	0.00
R6514:Capn7	UTSW	14	31,066,511 (GRCm39)	missense	probably benign	0.00
R6838:Capn7	UTSW	14	31,076,130 (GRCm39)	missense	possibly damaging	0.95
R7041:Capn7	UTSW	14	31,058,642 (GRCm39)	unclassified	probably benign
R7047:Capn7	UTSW	14	31,058,642 (GRCm39)	unclassified	probably benign
R7124:Capn7	UTSW	14	31,058,642 (GRCm39)	unclassified	probably benign
R7224:Capn7	UTSW	14	31,092,678 (GRCm39)	nonsense	probably null
R7417:Capn7	UTSW	14	31,092,663 (GRCm39)	missense	probably damaging	1.00
R7419:Capn7	UTSW	14	31,071,779 (GRCm39)	missense	probably benign	0.02
R7544:Capn7	UTSW	14	31,062,007 (GRCm39)	missense	probably damaging	1.00
R7699:Capn7	UTSW	14	31,074,401 (GRCm39)	missense	probably benign	0.00
R7700:Capn7	UTSW	14	31,074,401 (GRCm39)	missense	probably benign	0.00
R7775:Capn7	UTSW	14	31,074,367 (GRCm39)	missense	probably benign	0.00
R7824:Capn7	UTSW	14	31,074,367 (GRCm39)	missense	probably benign	0.00
R7908:Capn7	UTSW	14	31,088,202 (GRCm39)	critical splice donor site	probably null
R8057:Capn7	UTSW	14	31,092,936 (GRCm39)	missense	probably benign	0.27
R8176:Capn7	UTSW	14	31,069,729 (GRCm39)	missense	probably benign	0.03
R8270:Capn7	UTSW	14	31,080,636 (GRCm39)	missense	probably damaging	0.97
R9103:Capn7	UTSW	14	31,091,732 (GRCm39)	missense	probably benign	0.23
R9732:Capn7	UTSW	14	31,090,031 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCAGAAGCATTGAGTGAACCTTTGAC -3'
(R):5'- GTGCTGGCTATGCACACAAAACC -3'

Sequencing Primer
(F):5'- TGAGTGAACCTTTGACAAAGCC -3'
(R):5'- CAGAGTACATGTCTAGGATTAGAACC -3'

Posted On

2013-05-09