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

Essential gene?

Probably essential (E-score: 0.848) question?

Stock #

R4676 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31058595-31093943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31081216 bp (GRCm39)

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: 120,078,382 (GRCm39)	I13N	probably damaging	Het
Abcd3	T	A	3: 121,567,815 (GRCm39)	T409S	possibly damaging	Het
Acad12	C	A	5: 121,745,234 (GRCm39)	W317L	probably damaging	Het
Acap1	T	A	11: 69,780,294 (GRCm39)	M50L	probably benign	Het
Acvr1b	T	A	15: 101,100,867 (GRCm39)	V343E	probably damaging	Het
Adgb	C	A	10: 10,302,454 (GRCm39)	G371W	probably damaging	Het
Akap9	A	G	5: 4,082,774 (GRCm39)	K1966R	probably damaging	Het
Akap9	C	T	5: 4,114,515 (GRCm39)	Q48*	probably null	Het
Ano10	T	C	9: 122,092,853 (GRCm39)	R159G	probably damaging	Het
Anxa7	T	C	14: 20,517,983 (GRCm39)	M128V	probably benign	Het
Arhgef40	C	A	14: 52,228,416 (GRCm39)	C554*	probably null	Het
Atf6	T	C	1: 170,614,979 (GRCm39)	Y538C	probably damaging	Het
Atp8b1	A	C	18: 64,671,749 (GRCm39)	D1091E	probably benign	Het
BC034090	A	G	1: 155,102,010 (GRCm39)	Y85H	possibly damaging	Het
Bcas2	A	G	3: 103,083,017 (GRCm39)		probably benign	Het
Bnc2	T	C	4: 84,211,056 (GRCm39)	N463D	probably damaging	Het
Cavin3	T	C	7: 105,130,320 (GRCm39)	E164G	probably damaging	Het
Ccdc191	T	C	16: 43,759,536 (GRCm39)		probably benign	Het
Ccdc88b	A	G	19: 6,830,368 (GRCm39)	V858A	probably benign	Het
Clcn3	A	G	8: 61,383,685 (GRCm39)		probably benign	Het
Commd6	T	C	14: 101,877,720 (GRCm39)		probably benign	Het
Cspg4b	C	A	13: 113,505,341 (GRCm39)	L2157I	probably damaging	Het
Cspg4b	T	G	13: 113,505,342 (GRCm39)	L2157R	probably damaging	Het
Cul3	G	A	1: 80,249,391 (GRCm39)	L561F	probably damaging	Het
Cyfip1	T	A	7: 55,524,761 (GRCm39)	I131N	probably damaging	Het
Dlgap3	T	A	4: 127,127,554 (GRCm39)	Y741N	probably damaging	Het
Dnaaf10	T	C	11: 17,179,794 (GRCm39)	V265A	probably benign	Het
Dnah5	A	T	15: 28,295,406 (GRCm39)	I1380F	possibly damaging	Het
Dync1h1	G	T	12: 110,628,975 (GRCm39)	L4177F	probably damaging	Het
Ethe1	G	A	7: 24,307,319 (GRCm39)	V178M	probably damaging	Het
Flnc	A	T	6: 29,445,153 (GRCm39)		probably null	Het
Get3	C	T	8: 85,745,502 (GRCm39)	A219T	probably benign	Het
Glt8d1	T	C	14: 30,728,649 (GRCm39)	F26L	probably benign	Het
Gm5493	T	A	17: 22,967,054 (GRCm39)	D63E	probably benign	Het
Gm9996	T	A	10: 29,019,834 (GRCm39)		probably benign	Het
Gnl2	T	G	4: 124,947,266 (GRCm39)	S629R	possibly damaging	Het
Gpbp1l1	T	C	4: 116,447,462 (GRCm39)	S381P	probably damaging	Het
Igsf10	A	C	3: 59,233,370 (GRCm39)	F1788V	probably benign	Het
Inpp5d	C	A	1: 87,642,864 (GRCm39)	P935Q	probably damaging	Het
Itch	A	C	2: 155,041,355 (GRCm39)	I468L	probably benign	Het
Itga5	A	T	15: 103,265,637 (GRCm39)	Y192N	probably damaging	Het
Itih3	T	A	14: 30,643,643 (GRCm39)	Q121L	possibly damaging	Het
Itih3	T	A	14: 30,640,906 (GRCm39)	Q302L	probably null	Het
Kctd17	T	A	15: 78,319,959 (GRCm39)		probably benign	Het
Lsm1	T	C	8: 26,283,717 (GRCm39)	L43P	probably damaging	Het
Magi3	A	T	3: 103,923,141 (GRCm39)	M1192K	probably benign	Het
Mecom	A	G	3: 30,322,817 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,483,606 (GRCm39)	V597A	probably damaging	Het
Mtmr3	A	T	11: 4,477,855 (GRCm39)	F63Y	probably benign	Het
Naa16	A	G	14: 79,573,788 (GRCm39)		probably benign	Het
Neto1	A	T	18: 86,416,427 (GRCm39)	T45S	possibly damaging	Het
Nlrp4a	A	T	7: 26,149,654 (GRCm39)	R420S	probably damaging	Het
Nr1h4	T	C	10: 89,309,736 (GRCm39)	D317G	probably damaging	Het
Or8b53	A	G	9: 38,666,955 (GRCm39)		probably benign	Het
Or9i16	C	T	19: 13,864,765 (GRCm39)	D270N	probably damaging	Het
Or9q2	T	A	19: 13,772,838 (GRCm39)	I46F	possibly damaging	Het
Pde5a	A	T	3: 122,541,542 (GRCm39)	M11L	possibly damaging	Het
Plxnb1	G	A	9: 108,939,503 (GRCm39)	R1416Q	possibly damaging	Het
Polm	A	T	11: 5,785,749 (GRCm39)	Y141*	probably null	Het
Rxfp1	A	G	3: 79,612,975 (GRCm39)	F32L	probably damaging	Het
Scrt1	T	A	15: 76,405,868 (GRCm39)	D13V	possibly damaging	Het
Slc1a7	T	A	4: 107,834,871 (GRCm39)	V79E	possibly damaging	Het
Snurf	T	C	7: 59,645,270 (GRCm39)	Q48R	probably benign	Het
Srek1	T	C	13: 103,894,695 (GRCm39)		probably benign	Het
Stxbp5l	T	C	16: 37,076,246 (GRCm39)	S267G	probably damaging	Het
Taf5	C	T	19: 47,063,409 (GRCm39)	R320W	probably damaging	Het
Tars2	A	T	3: 95,660,403 (GRCm39)	N106K	probably damaging	Het
Tatdn3	A	T	1: 190,781,531 (GRCm39)	L207Q	probably damaging	Het
Tdrd6	T	C	17: 43,938,501 (GRCm39)	E849G	probably damaging	Het
Tedc2	T	C	17: 24,438,985 (GRCm39)	T111A	probably benign	Het
Tfg	T	A	16: 56,514,854 (GRCm39)		probably null	Het
Tgds	A	T	14: 118,353,643 (GRCm39)	S225T	probably benign	Het
Tnks2	T	A	19: 36,852,671 (GRCm39)	Y134*	probably null	Het
Trappc1	T	A	11: 69,216,356 (GRCm39)	V134D	probably damaging	Het
Ttc3	C	A	16: 94,243,620 (GRCm39)	P853Q	probably damaging	Het
Ttc7	C	A	17: 87,678,163 (GRCm39)		probably benign	Het
Ttf1	A	G	2: 28,964,606 (GRCm39)	S643G	probably damaging	Het
Tubgcp3	A	T	8: 12,700,171 (GRCm39)	S338T	probably damaging	Het
Ugt1a6a	T	C	1: 88,067,007 (GRCm39)	I271T	possibly damaging	Het
Vipas39	T	A	12: 87,288,075 (GRCm39)	Y445F	probably damaging	Het
Vmn1r31	A	C	6: 58,448,998 (GRCm39)	I289S	probably damaging	Het
Zfp112	A	G	7: 23,825,685 (GRCm39)	E551G	probably damaging	Het
Zfp397	T	A	18: 24,093,854 (GRCm39)	Y446*	probably null	Het
Zfp442	A	T	2: 150,251,526 (GRCm39)	H124Q	probably damaging	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
R0316:Capn7	UTSW	14	31,069,766 (GRCm39)	missense	probably benign	0.00
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
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'- TTTCCAGGTCAAATGAGGAGTGG -3'
(R):5'- AGGTGACAGCTTTGCAATCTC -3'

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

Posted On

2015-10-08