Mutagenetix > Incidental Mutation

Incidental Mutation 'R1653:Capn8'

188833

Institutional Source

Beutler Lab

Gene Symbol

Capn8

Ensembl Gene

ENSMUSG00000038599

Gene Name

calpain 8

Synonyms

nCL-2, nCL-2'

MMRRC Submission

039689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

182565007-182632352 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 182623951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 578 (N578D)

Ref Sequence

ENSEMBL: ENSMUSP00000141275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048941] [ENSMUST00000192671]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048941
AA Change: N578D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000047164
Gene: ENSMUSG00000038599
AA Change: N578D

Domain	Start	End	E-Value	Type
CysPc	27	352	5.02e-183	SMART
calpain_III	355	512	5.34e-91	SMART
EFh	579	607	3.12e0	SMART
EFh	609	637	4.32e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192671
AA Change: N578D

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141275
Gene: ENSMUSG00000038599
AA Change: N578D

Domain	Start	End	E-Value	Type
CysPc	27	352	2.2e-185	SMART
calpain_III	355	512	1.4e-93	SMART
EFh	579	607	1.5e-2	SMART
EFh	609	637	2.1e-1	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele or allele that produces a proteolytically inactive protein exhibit increased sensitivity to ethanol-induced gastric mucosa injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	T	8: 43,650,645 (GRCm38)	C654*	probably null	Het
Adamts19	T	A	18: 58,890,293 (GRCm38)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,101,503 (GRCm38)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,346,831 (GRCm38)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,935,624 (GRCm38)	I198V	probably benign	Het
Bcan	T	A	3: 87,994,196 (GRCm38)	I400F	probably damaging	Het
Capn10	A	G	1: 92,946,898 (GRCm38)	Y617C	probably damaging	Het
Casd1	T	C	6: 4,624,134 (GRCm38)	L309P	probably benign	Het
Ccser1	T	A	6: 61,311,465 (GRCm38)	I204K	probably benign	Het
Cd276	T	C	9: 58,537,449 (GRCm38)	T80A	probably benign	Het
Cdh3	T	C	8: 106,539,068 (GRCm38)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,413,520 (GRCm38)	T659A	possibly damaging	Het
Col6a4	C	T	9: 106,072,409 (GRCm38)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,286,468 (GRCm38)	V575D	probably damaging	Het
Ep400	G	A	5: 110,693,174 (GRCm38)	Q1795*	probably null	Het
Gcnt3	A	G	9: 70,035,077 (GRCm38)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,858,287 (GRCm38)	I96T	possibly damaging	Het
Gpr183	A	G	14: 121,954,263 (GRCm38)	F282S	probably damaging	Het
Igfals	T	C	17: 24,881,078 (GRCm38)	V381A	probably benign	Het
Irs3	C	A	5: 137,644,521 (GRCm38)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,602,481 (GRCm38)	F410S	probably damaging	Het
Klc4	T	C	17: 46,631,859 (GRCm38)	Y593C	possibly damaging	Het
Lce1h	T	A	3: 92,763,443 (GRCm38)	Q134L	unknown	Het
Lyst	T	C	13: 13,635,226 (GRCm38)	S494P	probably damaging	Het
Marchf3	A	G	18: 56,811,895 (GRCm38)	M42T	probably benign	Het
Myh7	A	G	14: 54,990,789 (GRCm38)	I250T	probably benign	Het
N4bp1	G	T	8: 86,844,948 (GRCm38)	H807Q	probably benign	Het
Ndn	C	T	7: 62,348,508 (GRCm38)	P34L	probably benign	Het
Nfs1	C	T	2: 156,125,336 (GRCm38)	G44D	probably damaging	Het
Nrg1	C	T	8: 31,818,653 (GRCm38)	R445H	probably damaging	Het
Or14c43	T	C	7: 86,466,212 (GRCm38)	V267A	probably benign	Het
Or4e5	A	T	14: 52,490,772 (GRCm38)	F64Y	probably damaging	Het
Or56a5	T	A	7: 105,143,870 (GRCm38)	D141V	possibly damaging	Het
Pak5	C	T	2: 136,116,887 (GRCm38)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,888,995 (GRCm38)		probably null	Het
Sin3b	G	T	8: 72,741,519 (GRCm38)	V290L	probably benign	Het
Sirt1	T	C	10: 63,321,809 (GRCm38)	T609A	probably benign	Het
Skint5	A	T	4: 113,490,678 (GRCm38)	S1289T	unknown	Het
Slc32a1	A	T	2: 158,614,889 (GRCm38)	H488L	probably benign	Het
Slc35b3	A	G	13: 38,955,798 (GRCm38)	S18P	probably benign	Het
Spaca7	T	A	8: 12,586,501 (GRCm38)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,080,527 (GRCm38)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 89,107,442 (GRCm38)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,272 (GRCm38)	L1117*	probably null	Het
Wdcp	T	C	12: 4,851,815 (GRCm38)	L557P	probably damaging	Het
Wwp2	T	C	8: 107,483,410 (GRCm38)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,389,924 (GRCm38)	R467H	possibly damaging	Het
Zfp747l1	G	T	7: 127,384,480 (GRCm38)	H483Q	possibly damaging	Het
Zfp839	T	A	12: 110,855,250 (GRCm38)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,660,577 (GRCm38)	Q1106*	probably null	Het
Zrsr2-ps1	T	A	11: 22,974,158 (GRCm38)	C311S	probably damaging	Het

Other mutations in Capn8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01880:Capn8	APN	1	182,597,576 (GRCm38)	missense	probably damaging	1.00
IGL02814:Capn8	APN	1	182,598,771 (GRCm38)	missense	probably damaging	1.00
R0063:Capn8	UTSW	1	182,602,112 (GRCm38)	missense	probably damaging	1.00
R0063:Capn8	UTSW	1	182,602,112 (GRCm38)	missense	probably damaging	1.00
R0330:Capn8	UTSW	1	182,630,138 (GRCm38)	missense	probably benign	0.30
R1679:Capn8	UTSW	1	182,613,467 (GRCm38)	missense	probably damaging	1.00
R1783:Capn8	UTSW	1	182,598,822 (GRCm38)	missense	probably damaging	1.00
R1819:Capn8	UTSW	1	182,598,826 (GRCm38)	missense	probably damaging	1.00
R1831:Capn8	UTSW	1	182,611,101 (GRCm38)	critical splice donor site	probably null
R2045:Capn8	UTSW	1	182,613,386 (GRCm38)	missense	probably benign	0.00
R2298:Capn8	UTSW	1	182,613,420 (GRCm38)	missense	probably benign	0.29
R4331:Capn8	UTSW	1	182,604,454 (GRCm38)	missense	probably damaging	1.00
R4485:Capn8	UTSW	1	182,598,741 (GRCm38)	missense	possibly damaging	0.76
R4835:Capn8	UTSW	1	182,604,551 (GRCm38)	missense	probably damaging	0.98
R5055:Capn8	UTSW	1	182,571,961 (GRCm38)	missense	probably damaging	1.00
R5224:Capn8	UTSW	1	182,596,989 (GRCm38)	missense	probably damaging	1.00
R5327:Capn8	UTSW	1	182,628,604 (GRCm38)	missense	probably benign	0.03
R5497:Capn8	UTSW	1	182,620,180 (GRCm38)	missense	probably benign
R6307:Capn8	UTSW	1	182,607,699 (GRCm38)	missense	probably damaging	0.98
R6895:Capn8	UTSW	1	182,628,669 (GRCm38)	missense	possibly damaging	0.51
R7216:Capn8	UTSW	1	182,598,798 (GRCm38)	missense	possibly damaging	0.89
R7438:Capn8	UTSW	1	182,598,675 (GRCm38)	missense	probably damaging	1.00
R8258:Capn8	UTSW	1	182,565,133 (GRCm38)	missense	probably benign	0.00
R8259:Capn8	UTSW	1	182,565,133 (GRCm38)	missense	probably benign	0.00
R8334:Capn8	UTSW	1	182,611,105 (GRCm38)	splice site	probably null
R8837:Capn8	UTSW	1	182,628,634 (GRCm38)	missense	possibly damaging	0.88
R9746:Capn8	UTSW	1	182,611,105 (GRCm38)	splice site	probably null
Z1177:Capn8	UTSW	1	182,613,346 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCCACAGCTTGAAGCACAATG -3'
(R):5'- TCCCAGGTGTGGCAAAGACAAC -3'

Sequencing Primer
(F):5'- CTTGAAGCACAATGCCAGGG -3'
(R):5'- CTTCCTGGAAAAAGGTAGAGGAGC -3'

Posted On

2014-05-09