Mutagenetix > Incidental Mutation

Incidental Mutation 'R0195:Capn7'

23390

Institutional Source

Beutler Lab

Gene Symbol

Capn7

Ensembl Gene

ENSMUSG00000021893

Gene Name

calpain 7

Synonyms

PalBH

MMRRC Submission

038454-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.818) question?

Stock #

R0195 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

31058595-31093943 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31087538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 593 (I593T)

Ref Sequence

ENSEMBL: ENSMUSP00000022451 (fasta)

Gene Model

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

AlphaFold

Q9R1S8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022451
AA Change: I593T

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

SMART Domains

Protein: ENSMUSP00000022451
Gene: ENSMUSG00000021893
AA Change: I593T

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 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228237

Meta Mutation Damage Score

0.8256

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.4%

Validation Efficiency

98% (156/160)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,403,800 (GRCm39)	R362P	possibly damaging	Het
Adam24	T	A	8: 41,134,805 (GRCm39)	W758R	probably benign	Het
Adam26b	G	T	8: 43,973,307 (GRCm39)	T565K	probably damaging	Het
Adam7	T	G	14: 68,765,076 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,102,942 (GRCm39)		probably benign	Het
Add1	A	G	5: 34,767,990 (GRCm39)		probably benign	Het
Ago1	A	G	4: 126,357,484 (GRCm39)	C64R	probably benign	Het
Ankrd12	C	T	17: 66,356,943 (GRCm39)		probably null	Het
Arhgef33	A	G	17: 80,688,863 (GRCm39)	K820E	probably damaging	Het
Arl9	T	C	5: 77,154,341 (GRCm39)	V8A	probably damaging	Het
Aspm	T	C	1: 139,406,873 (GRCm39)	L1920P	probably damaging	Het
Atad2	A	G	15: 57,963,350 (GRCm39)		probably benign	Het
Atp2b2	A	T	6: 113,770,835 (GRCm39)	V358E	probably benign	Het
C3ar1	A	C	6: 122,828,114 (GRCm39)	C34W	possibly damaging	Het
C6	G	A	15: 4,792,953 (GRCm39)	V353M	probably benign	Het
Casc3	T	A	11: 98,712,319 (GRCm39)	D119E	probably damaging	Het
Ccna1	T	A	3: 54,961,785 (GRCm39)	E45V	probably damaging	Het
Cdc37	A	G	9: 21,053,576 (GRCm39)	V180A	probably benign	Het
Cdh23	A	G	10: 60,152,838 (GRCm39)	I2393T	probably damaging	Het
Cnbd1	T	C	4: 18,906,988 (GRCm39)		probably benign	Het
Cngb3	A	T	4: 19,280,975 (GRCm39)	M15L	probably benign	Het
Crygn	A	G	5: 24,961,036 (GRCm39)	M90T	possibly damaging	Het
Cse1l	T	A	2: 166,782,008 (GRCm39)	S661R	probably benign	Het
D830013O20Rik	C	T	12: 73,411,095 (GRCm39)		noncoding transcript	Het
Ddx24	C	T	12: 103,385,220 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,676,998 (GRCm39)		probably null	Het
Dnah9	C	T	11: 65,786,731 (GRCm39)	G3634E	probably benign	Het
Dnttip2	A	T	3: 122,069,810 (GRCm39)	T342S	probably benign	Het
Evx2	G	T	2: 74,489,388 (GRCm39)	R125S	probably damaging	Het
Fbxl5	A	T	5: 43,928,140 (GRCm39)	L40Q	probably damaging	Het
Git1	T	A	11: 77,391,899 (GRCm39)	D240E	probably benign	Het
Glp2r	T	A	11: 67,600,534 (GRCm39)	K438N	probably damaging	Het
Hivep1	T	A	13: 42,309,629 (GRCm39)	I623N	probably benign	Het
Il17re	A	G	6: 113,443,098 (GRCm39)	E312G	probably damaging	Het
Itgb7	G	A	15: 102,130,618 (GRCm39)		probably benign	Het
Itpr3	A	G	17: 27,333,088 (GRCm39)	Y1900C	probably damaging	Het
Krt1c	G	A	15: 101,721,626 (GRCm39)	Q472*	probably null	Het
Krtap5-1	A	C	7: 141,850,434 (GRCm39)	C125G	unknown	Het
Macf1	A	G	4: 123,328,709 (GRCm39)	S2554P	probably damaging	Het
Marchf10	C	T	11: 105,276,351 (GRCm39)	G646R	probably damaging	Het
Mrpl48	A	C	7: 100,195,560 (GRCm39)		probably benign	Het
Myo16	A	T	8: 10,365,538 (GRCm39)		probably benign	Het
Nrcam	A	T	12: 44,631,628 (GRCm39)	E1060D	probably benign	Het
Nsd3	T	A	8: 26,170,709 (GRCm39)	C731S	probably damaging	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Nxnl2	G	T	13: 51,325,483 (GRCm39)	R42L	probably damaging	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Orc1	C	T	4: 108,471,505 (GRCm39)	R786*	probably null	Het
P2ry6	A	T	7: 100,587,904 (GRCm39)	W152R	probably damaging	Het
Pex5l	T	C	3: 33,047,102 (GRCm39)	N283D	possibly damaging	Het
Pgk2	T	C	17: 40,518,622 (GRCm39)	I269V	probably benign	Het
Phgdh	T	G	3: 98,223,866 (GRCm39)		probably benign	Het
Pzp	A	T	6: 128,464,441 (GRCm39)	L1362Q	probably damaging	Het
Rbbp9	T	C	2: 144,390,026 (GRCm39)		probably benign	Het
Rffl	A	G	11: 82,700,989 (GRCm39)	L244P	probably damaging	Het
Serpina11	T	C	12: 103,952,131 (GRCm39)	Y213C	probably damaging	Het
Spopfm1	A	G	3: 94,173,229 (GRCm39)	Y79C	possibly damaging	Het
Srsf11	A	G	3: 157,742,172 (GRCm39)		probably benign	Het
Sspo	T	A	6: 48,463,570 (GRCm39)	V3785E	probably benign	Het
Svep1	A	T	4: 58,089,514 (GRCm39)	S1632T	possibly damaging	Het
Tm4sf1	T	A	3: 57,200,480 (GRCm39)	D74V	probably damaging	Het
Tmprss15	T	A	16: 78,831,222 (GRCm39)	T393S	probably benign	Het
Tnfaip3	A	G	10: 18,881,461 (GRCm39)	L275P	probably damaging	Het
Trim30c	A	G	7: 104,031,636 (GRCm39)	V393A	probably benign	Het
Tssk2	T	A	16: 17,717,439 (GRCm39)	S281T	probably benign	Het
Tubb4a	A	G	17: 57,388,499 (GRCm39)	S176P	probably damaging	Het
Unc45b	T	A	11: 82,828,654 (GRCm39)	M785K	probably damaging	Het
Vldlr	A	T	19: 27,215,786 (GRCm39)	D261V	probably damaging	Het
Vmn1r176	G	T	7: 23,535,010 (GRCm39)	Q48K	probably benign	Het
Vmn2r110	A	T	17: 20,794,317 (GRCm39)	L784Q	probably benign	Het
Vps13b	A	G	15: 35,472,045 (GRCm39)	T783A	probably benign	Het
Zfp800	A	G	6: 28,243,846 (GRCm39)	M373T	probably damaging	Het
Zmym1	A	G	4: 126,941,704 (GRCm39)	F895L	possibly 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
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
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'- CTTTTGGTCATTGCCAGTAGCCATTTT -3'
(R):5'- CCTCTCCAATCCACTGGACCAGTAAA -3'

Sequencing Primer
(F):5'- cccaggttcagttcccag -3'
(R):5'- TGAGAAAACATTTTCAGAGCACTTA -3'

Posted On

2013-04-16