Mutagenetix > Incidental Mutation

Incidental Mutation 'R5224:Capn8'

402475

Institutional Source

Beutler Lab

Gene Symbol

Capn8

Ensembl Gene

ENSMUSG00000038599

Gene Name

calpain 8

Synonyms

nCL-2', nCL-2

MMRRC Submission

042797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5224 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182392572-182459917 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 182424554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 117 (N117T)

Ref Sequence

ENSEMBL: ENSMUSP00000129549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048941] [ENSMUST00000168514] [ENSMUST00000192671]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048941
AA Change: N117T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047164
Gene: ENSMUSG00000038599
AA Change: N117T

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 damaging
Transcript: ENSMUST00000168514
AA Change: N117T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129549
Gene: ENSMUSG00000038599
AA Change: N117T

Domain	Start	End	E-Value	Type
CysPc	27	352	5.02e-183	SMART
Pfam:Calpain_III	355	381	6.3e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192671
AA Change: N117T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141275
Gene: ENSMUSG00000038599
AA Change: N117T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193260

Meta Mutation Damage Score

0.4356

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (58/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	CGTGACCTTTCTGGT	CGT	10: 85,481,386 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,862,921 (GRCm39)	S699G	probably damaging	Het
Atp10d	C	T	5: 72,426,669 (GRCm39)	A959V	probably benign	Het
Axl	T	C	7: 25,486,369 (GRCm39)	M112V	probably benign	Het
Brd10	A	T	19: 29,696,450 (GRCm39)	S1014R	possibly damaging	Het
Camk1g	A	T	1: 193,037,342 (GRCm39)	D119E	probably damaging	Het
Cct3	G	A	3: 88,204,532 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,752,080 (GRCm39)	T1293A	possibly damaging	Het
Depdc1b	A	G	13: 108,521,354 (GRCm39)	D387G	probably damaging	Het
Dtx3l	A	G	16: 35,759,163 (GRCm39)	Y29H	possibly damaging	Het
Erp44	A	T	4: 48,279,435 (GRCm39)	N2K	probably benign	Het
Fmn1	A	G	2: 113,195,470 (GRCm39)	E390G	unknown	Het
Ganab	T	A	19: 8,887,955 (GRCm39)	D396E	probably benign	Het
Gatd3a	A	G	10: 77,999,367 (GRCm39)	V148A	probably damaging	Het
Gcc2	T	A	10: 58,121,982 (GRCm39)	S1140T	probably damaging	Het
Gm7008	T	C	12: 40,273,342 (GRCm39)		probably benign	Het
Gphn	T	A	12: 78,637,361 (GRCm39)	F354I	probably damaging	Het
H2-T7	G	A	17: 36,454,231 (GRCm39)		noncoding transcript	Het
Hnrnpul1	G	A	7: 25,444,600 (GRCm39)	T236M	probably damaging	Het
Itpr2	T	A	6: 146,068,149 (GRCm39)	M2410L	probably benign	Het
Jaml	T	A	9: 45,015,564 (GRCm39)	M356K	probably damaging	Het
Kbtbd12	T	A	6: 88,594,681 (GRCm39)		probably benign	Het
Ldlrad3	G	T	2: 101,943,954 (GRCm39)	N39K	probably damaging	Het
Lrp1b	G	A	2: 41,000,852 (GRCm39)	T2238I	possibly damaging	Het
Lypd8	T	A	11: 58,277,634 (GRCm39)	C139S	possibly damaging	Het
Masp1	G	T	16: 23,313,445 (GRCm39)	H163Q	probably damaging	Het
Mpo	T	C	11: 87,687,283 (GRCm39)		probably benign	Het
Muc19	A	T	15: 91,825,910 (GRCm39)		noncoding transcript	Het
Muc5ac	T	A	7: 141,347,708 (GRCm39)	S438T	probably benign	Het
Nav2	T	C	7: 49,201,473 (GRCm39)	V160A	probably benign	Het
Nlrc5	G	T	8: 95,220,944 (GRCm39)	A1128S	probably benign	Het
Nlrp5	T	A	7: 23,117,401 (GRCm39)	L375Q	probably damaging	Het
Nlrp9a	A	G	7: 26,256,717 (GRCm39)	T112A	probably benign	Het
Nppa	T	C	4: 148,085,773 (GRCm39)	S127P	probably damaging	Het
Or8k24	A	G	2: 86,216,193 (GRCm39)	S190P	possibly damaging	Het
Osbpl1a	T	C	18: 13,066,753 (GRCm39)	N2S	probably benign	Het
Otoa	A	G	7: 120,739,016 (GRCm39)	T742A	probably damaging	Het
Pcdh10	A	G	3: 45,347,249 (GRCm39)	R1015G	probably damaging	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Plpp1	T	A	13: 112,988,046 (GRCm39)	Y56*	probably null	Het
Ppp1r12a	A	G	10: 108,096,886 (GRCm39)	T236A	probably benign	Het
Rhag	T	C	17: 41,139,395 (GRCm39)	L110P	probably damaging	Het
Scn11a	T	A	9: 119,583,858 (GRCm39)	N1586Y	probably damaging	Het
Sgms2	T	A	3: 131,135,766 (GRCm39)	K36I	probably damaging	Het
Slc22a2	A	G	17: 12,805,719 (GRCm39)	N157D	probably damaging	Het
Stx19	T	G	16: 62,642,937 (GRCm39)	M251R	probably benign	Het
Suco	A	G	1: 161,662,274 (GRCm39)	I719T	probably benign	Het
Tnr	A	G	1: 159,750,885 (GRCm39)	D1282G	probably damaging	Het
Tram1	T	C	1: 13,648,349 (GRCm39)	R154G	probably benign	Het
Ubtfl1	G	T	9: 18,321,326 (GRCm39)	V285L	probably benign	Het
Ugt2b38	A	G	5: 87,571,601 (GRCm39)	S144P	probably benign	Het
Washc2	T	G	6: 116,185,965 (GRCm39)	*58G	probably null	Het
Zfp354a	T	A	11: 50,960,876 (GRCm39)	S362R	probably damaging	Het

Other mutations in Capn8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01880:Capn8	APN	1	182,425,141 (GRCm39)	missense	probably damaging	1.00
IGL02814:Capn8	APN	1	182,426,336 (GRCm39)	missense	probably damaging	1.00
R0063:Capn8	UTSW	1	182,429,677 (GRCm39)	missense	probably damaging	1.00
R0063:Capn8	UTSW	1	182,429,677 (GRCm39)	missense	probably damaging	1.00
R0330:Capn8	UTSW	1	182,457,703 (GRCm39)	missense	probably benign	0.30
R1653:Capn8	UTSW	1	182,451,516 (GRCm39)	missense	probably benign	0.04
R1679:Capn8	UTSW	1	182,441,032 (GRCm39)	missense	probably damaging	1.00
R1783:Capn8	UTSW	1	182,426,387 (GRCm39)	missense	probably damaging	1.00
R1819:Capn8	UTSW	1	182,426,391 (GRCm39)	missense	probably damaging	1.00
R1831:Capn8	UTSW	1	182,438,666 (GRCm39)	critical splice donor site	probably null
R2045:Capn8	UTSW	1	182,440,951 (GRCm39)	missense	probably benign	0.00
R2298:Capn8	UTSW	1	182,440,985 (GRCm39)	missense	probably benign	0.29
R4331:Capn8	UTSW	1	182,432,019 (GRCm39)	missense	probably damaging	1.00
R4485:Capn8	UTSW	1	182,426,306 (GRCm39)	missense	possibly damaging	0.76
R4835:Capn8	UTSW	1	182,432,116 (GRCm39)	missense	probably damaging	0.98
R5055:Capn8	UTSW	1	182,399,526 (GRCm39)	missense	probably damaging	1.00
R5327:Capn8	UTSW	1	182,456,169 (GRCm39)	missense	probably benign	0.03
R5497:Capn8	UTSW	1	182,447,745 (GRCm39)	missense	probably benign
R6307:Capn8	UTSW	1	182,435,264 (GRCm39)	missense	probably damaging	0.98
R6895:Capn8	UTSW	1	182,456,234 (GRCm39)	missense	possibly damaging	0.51
R7216:Capn8	UTSW	1	182,426,363 (GRCm39)	missense	possibly damaging	0.89
R7438:Capn8	UTSW	1	182,426,240 (GRCm39)	missense	probably damaging	1.00
R8258:Capn8	UTSW	1	182,392,698 (GRCm39)	missense	probably benign	0.00
R8259:Capn8	UTSW	1	182,392,698 (GRCm39)	missense	probably benign	0.00
R8334:Capn8	UTSW	1	182,438,670 (GRCm39)	splice site	probably null
R8837:Capn8	UTSW	1	182,456,199 (GRCm39)	missense	possibly damaging	0.88
R9746:Capn8	UTSW	1	182,438,670 (GRCm39)	splice site	probably null
Z1177:Capn8	UTSW	1	182,440,911 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTGTTTATACATAACCCTGTCGC -3'
(R):5'- GTGATTCTCTTGGCCCATGG -3'

Sequencing Primer
(F):5'- CGCAGGAATTCTGTTACAGC -3'
(R):5'- TGGAGTGTGTATCCAAATCACCCAG -3'

Posted On

2016-07-22