Mutagenetix > Incidental Mutation

Incidental Mutation 'R7417:Capn7'

575408

Institutional Source

Beutler Lab

Gene Symbol

Capn7

Ensembl Gene

ENSMUSG00000021893

Gene Name

calpain 7

Synonyms

PalBH

MMRRC Submission

045495-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.821) question?

Stock #

R7417 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31336638-31371986 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31370706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 737 (Y737H)

Ref Sequence

ENSEMBL: ENSMUSP00000022451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022451] [ENSMUST00000091903] [ENSMUST00000100730] [ENSMUST00000140002] [ENSMUST00000143472] [ENSMUST00000152182]

AlphaFold

Q9R1S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022451
AA Change: Y737H

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

SMART Domains

Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: Y737H

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: ENSMUST00000091903

SMART Domains

Protein: ENSMUSP00000089517
Gene: ENSMUSG00000021892

Domain	Start	End	E-Value	Type
Pfam:SH3BP5	42	272	2.2e-99	PFAM
low complexity region	323	335	N/A	INTRINSIC
low complexity region	407	428	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100730

SMART Domains

Protein: ENSMUSP00000098296
Gene: ENSMUSG00000021892

Domain	Start	End	E-Value	Type
Pfam:SH3BP5	60	274	5.5e-95	PFAM
low complexity region	321	333	N/A	INTRINSIC
low complexity region	405	426	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000143472

SMART Domains

Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893

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

SMART Domains

Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,152,889 (GRCm38)	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,417,365 (GRCm38)		probably null	Het
Aldh6a1	T	C	12: 84,441,782 (GRCm38)	Q110R	probably benign	Het
Alg11	A	T	8: 22,062,028 (GRCm38)	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,476,194 (GRCm38)	Y271H	probably damaging	Het
Ano8	T	A	8: 71,480,833 (GRCm38)	D605V	unknown	Het
Best2	C	T	8: 85,009,666 (GRCm38)		probably null	Het
Brca1	A	G	11: 101,524,981 (GRCm38)	S776P	probably damaging	Het
Cblc	A	T	7: 19,788,974 (GRCm38)	S333T	probably benign	Het
Ccm2	T	A	11: 6,593,091 (GRCm38)	M257K	probably benign	Het
Cd320	T	A	17: 33,847,556 (GRCm38)	C103*	probably null	Het
Cd53	A	G	3: 106,768,919 (GRCm38)	F44S	probably benign	Het
Col9a2	G	A	4: 121,054,292 (GRCm38)	R610H	not run	Het
Cubn	T	C	2: 13,426,967 (GRCm38)	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,201,988 (GRCm38)		probably null	Het
Dmrt2	A	T	19: 25,678,598 (GRCm38)	R520S	probably benign	Het
Dnai3	A	T	3: 146,093,080 (GRCm38)		probably null	Het
Drg2	A	G	11: 60,454,680 (GRCm38)	M1V	probably null	Het
Ect2	A	G	3: 27,098,419 (GRCm38)	S908P	probably damaging	Het
Eipr1	A	G	12: 28,866,955 (GRCm38)	T341A	probably benign	Het
Ell3	A	C	2: 121,440,410 (GRCm38)	I214R	probably benign	Het
Emsy	A	T	7: 98,615,486 (GRCm38)	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,900,462 (GRCm38)	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,962,808 (GRCm38)	V8M	possibly damaging	Het
Fthl17b	C	T	X: 8,962,804 (GRCm38)	R9Q	possibly damaging	Het
Gcsam	C	A	16: 45,619,877 (GRCm38)	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,774,080 (GRCm38)	I150F	probably damaging	Het
H2bw2	G	A	X: 136,927,722 (GRCm38)	R120K	unknown	Het
Hk2	G	A	6: 82,743,345 (GRCm38)	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345 (GRCm38)	H147L	probably benign	Het
Map3k6	T	A	4: 133,248,396 (GRCm38)	S732T	probably benign	Het
Masp2	A	G	4: 148,605,721 (GRCm38)	E229G	probably benign	Het
Mccc2	A	G	13: 99,971,777 (GRCm38)		probably null	Het
Mia3	A	G	1: 183,327,653 (GRCm38)	V359A		Het
Mob1a	A	T	6: 83,332,510 (GRCm38)	T80S	probably benign	Het
Msantd2	G	A	9: 37,523,294 (GRCm38)	G478S	probably damaging	Het
Mtf1	A	G	4: 124,825,181 (GRCm38)	E329G	probably null	Het
Myh9	T	A	15: 77,763,865 (GRCm38)	K1804*	probably null	Het
Ndst3	A	G	3: 123,671,664 (GRCm38)	W220R	probably damaging	Het
Nln	A	G	13: 104,036,970 (GRCm38)	L576P	probably damaging	Het
Nlrc4	A	G	17: 74,446,488 (GRCm38)	M300T	probably benign	Het
Obscn	G	T	11: 59,129,577 (GRCm38)	D880E	possibly damaging	Het
Oprd1	T	C	4: 132,117,452 (GRCm38)	T82A	probably damaging	Het
Or2n1d	T	A	17: 38,335,292 (GRCm38)	I45N	probably damaging	Het
Or4f60	A	C	2: 112,072,100 (GRCm38)	V161G	probably benign	Het
Orc3	A	G	4: 34,595,136 (GRCm38)	C278R	probably damaging	Het
Pde4d	T	A	13: 109,632,788 (GRCm38)		probably null	Het
Pms1	T	C	1: 53,197,072 (GRCm38)	E683G	probably benign	Het
Prdm2	A	T	4: 143,179,299 (GRCm38)	Y73N	probably damaging	Het
Prkaa2	T	C	4: 105,075,543 (GRCm38)	Q36R	probably benign	Het
Psg22	A	G	7: 18,722,966 (GRCm38)	E258G	probably damaging	Het
Ptprf	T	C	4: 118,212,172 (GRCm38)	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,273,069 (GRCm38)	Y759F	probably benign	Het
Ripor2	A	G	13: 24,696,550 (GRCm38)	D411G	probably damaging	Het
Ryr2	A	C	13: 11,556,748 (GRCm38)		probably null	Het
Sdr42e1	T	C	8: 117,662,751 (GRCm38)	T384A	probably benign	Het
Sec1	A	T	7: 45,684,725 (GRCm38)		probably null	Het
Sec16a	A	T	2: 26,421,397 (GRCm38)	F616I		Het
Sipa1l2	T	C	8: 125,482,106 (GRCm38)	D521G	possibly damaging	Het
Smc1b	T	A	15: 85,097,542 (GRCm38)	Q759L	probably benign	Het
Snph	A	T	2: 151,600,343 (GRCm38)	S57R	probably damaging	Het
Sqor	A	T	2: 122,787,530 (GRCm38)	T103S	probably benign	Het
Srbd1	A	G	17: 86,136,321 (GRCm38)	V159A	probably benign	Het
Srsf2	A	T	11: 116,852,901 (GRCm38)	V10E	probably damaging	Het
Swap70	T	A	7: 110,264,109 (GRCm38)		probably null	Het
Synm	A	C	7: 67,733,206 (GRCm38)	*675G	probably null	Het
Tek	A	G	4: 94,811,345 (GRCm38)	E320G	probably benign	Het
Tenm3	T	C	8: 48,236,183 (GRCm38)	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,125,863 (GRCm38)	K56R	possibly damaging	Het
Top3b	G	A	16: 16,877,850 (GRCm38)		probably benign	Het
Tssc4	G	T	7: 143,070,688 (GRCm38)	E244D	possibly damaging	Het
Twnk	G	A	19: 45,010,564 (GRCm38)		probably null	Het
Ube4a	A	C	9: 44,956,713 (GRCm38)	I45S	probably benign	Het
Unc79	A	T	12: 103,088,758 (GRCm38)	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,746,315 (GRCm38)	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,933,053 (GRCm38)	I312L	probably benign	Het
Vmn1r77	A	G	7: 12,041,684 (GRCm38)	Y129C	probably damaging	Het
Zer1	A	G	2: 30,102,822 (GRCm38)	L600P	probably damaging	Het
Zfp266	T	C	9: 20,500,936 (GRCm38)	T114A	probably benign	Het
Zrsr2-ps1	T	C	11: 22,974,662 (GRCm38)		probably null	Het

Other mutations in Capn7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Capn7	APN	14	31,363,578 (GRCm38)	missense	probably benign	0.41
IGL01481:Capn7	APN	14	31,355,339 (GRCm38)	missense	probably damaging	1.00
IGL03231:Capn7	APN	14	31,355,290 (GRCm38)	missense	probably damaging	1.00
R0018:Capn7	UTSW	14	31,354,112 (GRCm38)	nonsense	probably null
R0018:Capn7	UTSW	14	31,354,112 (GRCm38)	nonsense	probably null
R0060:Capn7	UTSW	14	31,365,604 (GRCm38)	splice site	probably benign
R0060:Capn7	UTSW	14	31,365,604 (GRCm38)	splice site	probably benign
R0077:Capn7	UTSW	14	31,368,115 (GRCm38)	missense	probably benign	0.10
R0195:Capn7	UTSW	14	31,365,581 (GRCm38)	missense	probably damaging	1.00
R0316:Capn7	UTSW	14	31,347,809 (GRCm38)	missense	probably benign	0.00
R0815:Capn7	UTSW	14	31,369,757 (GRCm38)	missense	possibly damaging	0.85
R0863:Capn7	UTSW	14	31,369,757 (GRCm38)	missense	possibly damaging	0.85
R1697:Capn7	UTSW	14	31,360,160 (GRCm38)	missense	probably damaging	1.00
R1954:Capn7	UTSW	14	31,360,150 (GRCm38)	missense	probably damaging	1.00
R2096:Capn7	UTSW	14	31,349,887 (GRCm38)	critical splice donor site	probably null
R3121:Capn7	UTSW	14	31,359,210 (GRCm38)	missense	probably damaging	1.00
R3122:Capn7	UTSW	14	31,359,210 (GRCm38)	missense	probably damaging	1.00
R4409:Capn7	UTSW	14	31,355,339 (GRCm38)	missense	probably damaging	1.00
R4676:Capn7	UTSW	14	31,359,259 (GRCm38)	missense	possibly damaging	0.72
R4799:Capn7	UTSW	14	31,360,557 (GRCm38)	missense	probably benign	0.01
R5023:Capn7	UTSW	14	31,352,426 (GRCm38)	missense	probably damaging	0.99
R5129:Capn7	UTSW	14	31,344,511 (GRCm38)	missense	probably damaging	0.99
R5460:Capn7	UTSW	14	31,368,203 (GRCm38)	critical splice donor site	probably null
R5608:Capn7	UTSW	14	31,370,707 (GRCm38)	missense	probably damaging	1.00
R5665:Capn7	UTSW	14	31,369,802 (GRCm38)	missense	probably benign	0.00
R5786:Capn7	UTSW	14	31,360,145 (GRCm38)	missense	probably damaging	1.00
R6186:Capn7	UTSW	14	31,370,918 (GRCm38)	missense	probably damaging	1.00
R6190:Capn7	UTSW	14	31,363,603 (GRCm38)	missense	probably benign	0.10
R6411:Capn7	UTSW	14	31,340,096 (GRCm38)	missense	probably benign	0.00
R6514:Capn7	UTSW	14	31,344,554 (GRCm38)	missense	probably benign	0.00
R6838:Capn7	UTSW	14	31,354,173 (GRCm38)	missense	possibly damaging	0.95
R7041:Capn7	UTSW	14	31,336,685 (GRCm38)	unclassified	probably benign
R7047:Capn7	UTSW	14	31,336,685 (GRCm38)	unclassified	probably benign
R7124:Capn7	UTSW	14	31,336,685 (GRCm38)	unclassified	probably benign
R7224:Capn7	UTSW	14	31,370,721 (GRCm38)	nonsense	probably null
R7419:Capn7	UTSW	14	31,349,822 (GRCm38)	missense	probably benign	0.02
R7544:Capn7	UTSW	14	31,340,050 (GRCm38)	missense	probably damaging	1.00
R7699:Capn7	UTSW	14	31,352,444 (GRCm38)	missense	probably benign	0.00
R7700:Capn7	UTSW	14	31,352,444 (GRCm38)	missense	probably benign	0.00
R7775:Capn7	UTSW	14	31,352,410 (GRCm38)	missense	probably benign	0.00
R7824:Capn7	UTSW	14	31,352,410 (GRCm38)	missense	probably benign	0.00
R7908:Capn7	UTSW	14	31,366,245 (GRCm38)	critical splice donor site	probably null
R8057:Capn7	UTSW	14	31,370,979 (GRCm38)	missense	probably benign	0.27
R8176:Capn7	UTSW	14	31,347,772 (GRCm38)	missense	probably benign	0.03
R8270:Capn7	UTSW	14	31,358,679 (GRCm38)	missense	probably damaging	0.97
R9103:Capn7	UTSW	14	31,369,775 (GRCm38)	missense	probably benign	0.23
R9732:Capn7	UTSW	14	31,368,074 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CGGTTCTTGGAATGCCATATGG -3'
(R):5'- CCCAGCAGGTATGTTTTCCAG -3'

Sequencing Primer
(F):5'- CTACATAGTGAGTTCCAGGACAGTC -3'
(R):5'- CAGCAGGTATGTTTTCCAGTTCTAAG -3'

Posted On

2019-10-07