Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Capn7'

192355

Institutional Source

Beutler Lab

Gene Symbol

Capn7

Ensembl Gene

ENSMUSG00000021893

Gene Name

calpain 7

Synonyms

PalBH

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31336638-31371986 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31360160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 441 (T441M)

Ref Sequence

ENSEMBL: ENSMUSP00000119214 (fasta)

Gene Model

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

AlphaFold

Q9R1S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022451
AA Change: T441M

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

SMART Domains

Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: T441M

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

probably damaging
Transcript: ENSMUST00000143472
AA Change: T441M

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

SMART Domains

Protein: ENSMUSP00000118596
Gene: ENSMUSG00000021893
AA Change: T441M

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: T441M

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

SMART Domains

Protein: ENSMUSP00000119214
Gene: ENSMUSG00000021893
AA Change: T441M

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	probably benign	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
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
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'- TGTGTGCTGCCAGCCTTAGTTATC -3'
(R):5'- TGGCTCTAAAGTCTGACCATCATTGC -3'

Sequencing Primer
(F):5'- GAAACCCTGTGATTTGGTAAGCC -3'
(R):5'- TCCAAAACCGCATAGGCATG -3'

Posted On

2014-05-14