Mutagenetix > Incidental Mutation

Incidental Mutation 'R8837:Capn8'

674198

Institutional Source

Beutler Lab

Gene Symbol

Capn8

Ensembl Gene

ENSMUSG00000038599

Gene Name

calpain 8

Synonyms

nCL-2', nCL-2

MMRRC Submission

068665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8837 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

182392572-182459917 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 182456199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 650 (A650S)

Ref Sequence

ENSEMBL: ENSMUSP00000047164 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048941
AA Change: A650S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047164
Gene: ENSMUSG00000038599
AA Change: A650S

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

unknown
Transcript: ENSMUST00000192671
AA Change: L671F

SMART Domains

Protein: ENSMUSP00000141275
Gene: ENSMUSG00000038599
AA Change: L671F

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	G	5: 8,986,873 (GRCm39)	F764C	probably damaging	Het
Aff1	A	G	5: 103,982,078 (GRCm39)	D739G	possibly damaging	Het
Atosb	A	G	4: 43,034,531 (GRCm39)	S355P	probably damaging	Het
Atp1a3	T	C	7: 24,677,980 (GRCm39)	Y1012C	probably damaging	Het
Btbd10	T	C	7: 112,929,133 (GRCm39)	T206A	probably benign	Het
Catsper1	A	C	19: 5,386,070 (GRCm39)	N101T	probably damaging	Het
Cdh23	A	C	10: 60,160,755 (GRCm39)	S2070R	probably benign	Het
Cep350	A	G	1: 155,737,518 (GRCm39)	V2775A	probably benign	Het
Clybl	G	A	14: 122,419,194 (GRCm39)		probably null	Het
Cog4	T	A	8: 111,579,004 (GRCm39)	N148K	probably benign	Het
Dbnl	G	A	11: 5,741,839 (GRCm39)	G44D	possibly damaging	Het
Dgcr2	A	T	16: 17,667,630 (GRCm39)	N276K	possibly damaging	Het
Dnah9	T	A	11: 65,746,060 (GRCm39)	T4018S	possibly damaging	Het
Dock3	A	G	9: 106,774,539 (GRCm39)	L72P	probably benign	Het
Dync2i2	T	C	2: 29,928,374 (GRCm39)	D84G	probably benign	Het
Fabp4	T	C	3: 10,271,105 (GRCm39)	T51A	probably benign	Het
Fars2	T	A	13: 36,430,409 (GRCm39)	I279N	probably damaging	Het
Fas	A	T	19: 34,296,049 (GRCm39)	Q164L	probably benign	Het
Focad	A	G	4: 88,072,905 (GRCm39)	K107E	probably damaging	Het
Gga3	G	A	11: 115,479,305 (GRCm39)	S338L	probably benign	Het
Grip1	A	G	10: 119,765,940 (GRCm39)	R91G	probably damaging	Het
Igkv3-7	A	G	6: 70,584,942 (GRCm39)	D94G	possibly damaging	Het
Kank3	G	C	17: 34,036,627 (GRCm39)	R165P	probably damaging	Het
Kmt2d	A	T	15: 98,762,048 (GRCm39)	L434Q	unknown	Het
Krt18	A	G	15: 101,938,265 (GRCm39)	T163A	possibly damaging	Het
Lcn10	T	A	2: 25,575,298 (GRCm39)		probably benign	Het
Lrrc37a	G	T	11: 103,394,795 (GRCm39)	P210Q	probably benign	Het
Lyst	T	A	13: 13,852,548 (GRCm39)	S2183T	probably benign	Het
Mga	G	A	2: 119,769,272 (GRCm39)		probably benign	Het
Myh9	G	A	15: 77,661,137 (GRCm39)	A818V	possibly damaging	Het
Or1j15	T	C	2: 36,458,703 (GRCm39)	I31T	probably benign	Het
Or1o3	G	T	17: 37,573,807 (GRCm39)	Y249*	probably null	Het
Or8b1	A	T	9: 38,399,597 (GRCm39)	I91F	probably benign	Het
Pde7b	A	G	10: 20,314,469 (GRCm39)		probably null	Het
Pik3cb	A	T	9: 98,936,117 (GRCm39)	Y772N	possibly damaging	Het
Ppl	C	G	16: 4,906,854 (GRCm39)	R1147P	probably damaging	Het
Prl3d2	A	T	13: 27,307,926 (GRCm39)	D69V	probably benign	Het
Psd3	A	G	8: 68,172,596 (GRCm39)	F871L	probably damaging	Het
Rlf	G	A	4: 121,045,432 (GRCm39)	P152S	probably benign	Het
Rpa1	T	C	11: 75,204,167 (GRCm39)	E270G	possibly damaging	Het
Scfd2	T	C	5: 74,691,656 (GRCm39)	T209A	probably benign	Het
Scn11a	A	G	9: 119,621,410 (GRCm39)	L669P	probably damaging	Het
Sec31b	A	T	19: 44,506,106 (GRCm39)	C933*	probably null	Het
Serpina3k	G	T	12: 104,309,292 (GRCm39)	M245I	probably benign	Het
Slc9a3	T	A	13: 74,305,823 (GRCm39)	I280N	probably damaging	Het
Soat1	A	G	1: 156,261,772 (GRCm39)	V412A	probably damaging	Het
Spata31d1a	A	T	13: 59,850,596 (GRCm39)	S511T	possibly damaging	Het
Sphkap	A	T	1: 83,253,384 (GRCm39)	V1455E	possibly damaging	Het
Spns1	G	A	7: 125,971,593 (GRCm39)	S319F	possibly damaging	Het
Tbxas1	G	T	6: 39,048,364 (GRCm39)	M403I		Het
Tln2	A	T	9: 67,157,866 (GRCm39)	C1158S	probably damaging	Het
Tnrc18	T	C	5: 142,778,811 (GRCm39)	T98A	possibly damaging	Het
Ttc23	T	C	7: 67,319,494 (GRCm39)	L118P	probably damaging	Het
Tyr	T	A	7: 87,087,223 (GRCm39)	I430L	probably damaging	Het
Uck2	A	G	1: 167,070,715 (GRCm39)	F5L	probably benign	Het
Ush2a	G	A	1: 188,485,847 (GRCm39)	V2986I	probably benign	Het
Vmn2r96	A	G	17: 18,802,888 (GRCm39)	D266G	probably benign	Het
Yrdc	A	G	4: 124,747,677 (GRCm39)	D213G	probably benign	Het
Zfp612	C	A	8: 110,815,603 (GRCm39)	T270K	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
R5224:Capn8	UTSW	1	182,424,554 (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
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'- GCAGAGGAGTCCTGCTTTATAGG -3'
(R):5'- CGTCCCATCCTCATGAATATCAG -3'

Sequencing Primer
(F):5'- GTTTCCACAGAATCATGGATGGCC -3'
(R):5'- CTTTTAATCCCTAGGCTCCAAAAG -3'

Posted On

2021-07-15