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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.862) 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	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,417,365		probably null	Het
Aldh6a1	T	C	12: 84,441,782	Q110R	probably benign	Het
Alg11	A	T	8: 22,062,028	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,476,194	Y271H	probably damaging	Het
Ano8	T	A	8: 71,480,833	D605V	unknown	Het
Best2	C	T	8: 85,009,666		probably null	Het
Brca1	A	G	11: 101,524,981	S776P	probably damaging	Het
Cblc	A	T	7: 19,788,974	S333T	probably benign	Het
Ccm2	T	A	11: 6,593,091	M257K	probably benign	Het
Cd320	T	A	17: 33,847,556	C103*	probably null	Het
Cd53	A	G	3: 106,768,919	F44S	probably benign	Het
Col9a2	G	A	4: 121,054,292	R610H	not run	Het
Cubn	T	C	2: 13,426,967	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,201,988		probably null	Het
Dmrt2	A	T	19: 25,678,598	R520S	probably benign	Het
Drg2	A	G	11: 60,454,680	M1V	probably null	Het
Ect2	A	G	3: 27,098,419	S908P	probably damaging	Het
Eipr1	A	G	12: 28,866,955	T341A	probably benign	Het
Ell3	A	C	2: 121,440,410	I214R	probably benign	Het
Emsy	A	T	7: 98,615,486	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,900,462	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,962,804	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,962,808	V8M	possibly damaging	Het
Gcsam	C	A	16: 45,619,877	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,774,080	I150F	probably damaging	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Hk2	G	A	6: 82,743,345	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345	H147L	probably benign	Het
Map3k6	T	A	4: 133,248,396	S732T	probably benign	Het
Masp2	A	G	4: 148,605,721	E229G	probably benign	Het
Mccc2	A	G	13: 99,971,777		probably null	Het
Mia3	A	G	1: 183,327,653	V359A		Het
Mob1a	A	T	6: 83,332,510	T80S	probably benign	Het
Msantd2	G	A	9: 37,523,294	G478S	probably damaging	Het
Mtf1	A	G	4: 124,825,181	E329G	probably null	Het
Myh9	T	A	15: 77,763,865	K1804*	probably null	Het
Ndst3	A	G	3: 123,671,664	W220R	probably damaging	Het
Nln	A	G	13: 104,036,970	L576P	probably damaging	Het
Nlrc4	A	G	17: 74,446,488	M300T	probably benign	Het
Obscn	G	T	11: 59,129,577	D880E	possibly damaging	Het
Olfr1313	A	C	2: 112,072,100	V161G	probably benign	Het
Olfr136	T	A	17: 38,335,292	I45N	probably damaging	Het
Oprd1	T	C	4: 132,117,452	T82A	probably damaging	Het
Orc3	A	G	4: 34,595,136	C278R	probably damaging	Het
Pde4d	T	A	13: 109,632,788		probably null	Het
Pms1	T	C	1: 53,197,072	E683G	probably benign	Het
Prdm2	A	T	4: 143,179,299	Y73N	probably damaging	Het
Prkaa2	T	C	4: 105,075,543	Q36R	probably benign	Het
Psg22	A	G	7: 18,722,966	E258G	probably damaging	Het
Ptprf	T	C	4: 118,212,172	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,273,069	Y759F	probably benign	Het
Ripor2	A	G	13: 24,696,550	D411G	probably damaging	Het
Ryr2	A	C	13: 11,556,748		probably null	Het
Sdr42e1	T	C	8: 117,662,751	T384A	probably benign	Het
Sec1	A	T	7: 45,684,725		probably null	Het
Sec16a	A	T	2: 26,421,397	F616I		Het
Sipa1l2	T	C	8: 125,482,106	D521G	possibly damaging	Het
Smc1b	T	A	15: 85,097,542	Q759L	probably benign	Het
Snph	A	T	2: 151,600,343	S57R	probably damaging	Het
Sqor	A	T	2: 122,787,530	T103S	probably benign	Het
Srbd1	A	G	17: 86,136,321	V159A	probably benign	Het
Srsf2	A	T	11: 116,852,901	V10E	probably damaging	Het
Swap70	T	A	7: 110,264,109		probably null	Het
Synm	A	C	7: 67,733,206	*675G	probably null	Het
Tek	A	G	4: 94,811,345	E320G	probably benign	Het
Tenm3	T	C	8: 48,236,183	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,125,863	K56R	possibly damaging	Het
Top3b	G	A	16: 16,877,850		probably benign	Het
Tssc4	G	T	7: 143,070,688	E244D	possibly damaging	Het
Twnk	G	A	19: 45,010,564		probably null	Het
Ube4a	A	C	9: 44,956,713	I45S	probably benign	Het
Unc79	A	T	12: 103,088,758	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,746,315	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,933,053	I312L	probably benign	Het
Vmn1r77	A	G	7: 12,041,684	Y129C	probably damaging	Het
Wdr63	A	T	3: 146,093,080		probably null	Het
Zer1	A	G	2: 30,102,822	L600P	probably damaging	Het
Zfp266	T	C	9: 20,500,936	T114A	probably benign	Het
Zrsr1	T	C	11: 22,974,662		probably null	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
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
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

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