Mutagenetix > Incidental Mutation

Incidental Mutation 'R7438:Capn8'

576709

Institutional Source

Beutler Lab

Gene Symbol

Capn8

Ensembl Gene

ENSMUSG00000038599

Gene Name

calpain 8

Synonyms

nCL-2', nCL-2

MMRRC Submission

045514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

182392572-182459917 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 182426240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 192 (Y192N)

Ref Sequence

ENSEMBL: ENSMUSP00000047164 (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: Y192N

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

SMART Domains

Protein: ENSMUSP00000047164
Gene: ENSMUSG00000038599
AA Change: Y192N

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: Y192N

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

SMART Domains

Protein: ENSMUSP00000129549
Gene: ENSMUSG00000038599
AA Change: Y192N

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: Y192N

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

SMART Domains

Protein: ENSMUSP00000141275
Gene: ENSMUSG00000038599
AA Change: Y192N

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (88/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,853,858 (GRCm39)	S425G	probably benign	Het
Adam29	A	G	8: 56,324,609 (GRCm39)	I615T	probably damaging	Het
Arap2	A	T	5: 62,906,818 (GRCm39)	I67N	probably damaging	Het
Asxl2	C	T	12: 3,477,108 (GRCm39)		probably benign	Het
Atp13a4	C	T	16: 29,260,014 (GRCm39)	G607D		Het
Atp2c2	G	A	8: 120,474,936 (GRCm39)	V514M	probably damaging	Het
Baiap3	A	G	17: 25,468,082 (GRCm39)	C311R	possibly damaging	Het
Becn1	A	C	11: 101,185,052 (GRCm39)	S137R	probably benign	Het
C1qtnf6	G	T	15: 78,409,574 (GRCm39)	T91K	probably benign	Het
C8a	T	C	4: 104,718,626 (GRCm39)	K110E	probably damaging	Het
Camta2	A	G	11: 70,574,714 (GRCm39)		probably null	Het
Ccdc170	C	T	10: 4,508,512 (GRCm39)	Q579*	probably null	Het
Cenpa	G	T	5: 30,824,292 (GRCm39)		probably benign	Het
Cltc	A	G	11: 86,616,054 (GRCm39)	V404A	probably benign	Het
Cyp3a11	A	T	5: 145,802,710 (GRCm39)	L261Q	probably benign	Het
Daw1	T	A	1: 83,170,436 (GRCm39)	S249R	probably benign	Het
Dchs1	T	A	7: 105,404,155 (GRCm39)	I2796F	probably benign	Het
Dis3l2	T	C	1: 86,673,222 (GRCm39)		probably null	Het
Dnah5	A	T	15: 28,347,098 (GRCm39)	D2527V	probably damaging	Het
Dsg4	G	A	18: 20,599,685 (GRCm39)	R767Q	probably damaging	Het
Edaradd	A	G	13: 12,493,338 (GRCm39)	I118T	probably damaging	Het
Fam83h	A	G	15: 75,876,275 (GRCm39)	F354S	possibly damaging	Het
Fat3	A	G	9: 15,899,778 (GRCm39)	V3085A	probably benign	Het
Fer	A	G	17: 64,440,516 (GRCm39)	D711G	possibly damaging	Het
G6pc1	G	T	11: 101,267,503 (GRCm39)	V318F	probably benign	Het
Gal3st1	C	A	11: 3,948,227 (GRCm39)	H145N	probably benign	Het
Helz	C	T	11: 107,552,856 (GRCm39)	P1211S	probably damaging	Het
Herc1	A	G	9: 66,302,038 (GRCm39)	I667V	probably benign	Het
Herc2	T	A	7: 55,753,466 (GRCm39)		probably null	Het
Hivep1	C	T	13: 42,308,387 (GRCm39)	T209I	probably damaging	Het
Hsph1	A	G	5: 149,542,485 (GRCm39)	Y678H	probably damaging	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ighv1-23	T	C	12: 114,728,095 (GRCm39)	D109G	probably damaging	Het
Itgb3	T	C	11: 104,534,403 (GRCm39)	V420A	possibly damaging	Het
Kcnk13	C	A	12: 100,027,985 (GRCm39)	N353K	probably damaging	Het
Kif21a	A	G	15: 90,877,999 (GRCm39)	F270L	probably benign	Het
Kit	T	A	5: 75,799,660 (GRCm39)	V464D	probably benign	Het
Klhl36	G	A	8: 120,596,914 (GRCm39)	W205*	probably null	Het
Krt17	A	G	11: 100,149,291 (GRCm39)	Y260H	probably damaging	Het
Lats1	C	T	10: 7,588,706 (GRCm39)	Q1108*	probably null	Het
Lrch1	G	A	14: 74,994,477 (GRCm39)	T709I	possibly damaging	Het
Lrrc58	C	A	16: 37,689,053 (GRCm39)	Q66K	probably benign	Het
Mei1	G	A	15: 81,999,682 (GRCm39)	A664T		Het
Mtmr6	C	T	14: 60,537,753 (GRCm39)	T546M	probably benign	Het
Ncoa3	T	A	2: 165,910,449 (GRCm39)	F1288L	probably damaging	Het
Nwd1	G	T	8: 73,434,458 (GRCm39)	V1352L	probably benign	Het
Or4k77	T	A	2: 111,199,707 (GRCm39)	H243Q	probably damaging	Het
Or5ac17	A	T	16: 59,036,761 (GRCm39)	C72S	probably benign	Het
Ovol3	C	T	7: 29,934,646 (GRCm39)		probably null	Het
Palb2	C	A	7: 121,716,554 (GRCm39)	V843L	probably damaging	Het
Pds5a	T	A	5: 65,809,878 (GRCm39)		probably null	Het
Per1	A	G	11: 68,995,561 (GRCm39)	S714G	possibly damaging	Het
Plch2	G	A	4: 155,084,917 (GRCm39)	R442C	probably damaging	Het
Pon2	A	T	6: 5,289,080 (GRCm39)	S26R	probably benign	Het
Ppp1r9a	A	T	6: 5,115,378 (GRCm39)	N834Y	probably damaging	Het
Pramel22	T	C	4: 143,382,130 (GRCm39)	I189V	probably damaging	Het
Rbm46	C	T	3: 82,749,795 (GRCm39)	W483*	probably null	Het
Rnd1	A	T	15: 98,571,782 (GRCm39)	V88E	probably damaging	Het
Sbno2	T	A	10: 79,905,409 (GRCm39)	T142S	unknown	Het
Scn9a	C	T	2: 66,377,531 (GRCm39)	V384M	possibly damaging	Het
Sertad4	T	A	1: 192,529,018 (GRCm39)	H266L	possibly damaging	Het
Setd5	T	A	6: 113,092,043 (GRCm39)	M288K	possibly damaging	Het
Sfxn4	T	A	19: 60,845,799 (GRCm39)	N66Y	probably damaging	Het
Sinhcaf	A	G	6: 148,834,600 (GRCm39)	Y10H	probably benign	Het
Skint6	T	A	4: 113,095,425 (GRCm39)	N78I	probably damaging	Het
Sltm	G	T	9: 70,480,748 (GRCm39)	G200V	unknown	Het
Smg1	A	G	7: 117,795,116 (GRCm39)	I477T	unknown	Het
Supv3l1	C	T	10: 62,266,249 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,062,337 (GRCm39)	R4220G	probably benign	Het
Tbr1	A	T	2: 61,635,161 (GRCm39)	H37L	possibly damaging	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,345,211 (GRCm39)		probably benign	Het
Tmem231	G	T	8: 112,645,040 (GRCm39)	S155R	probably damaging	Het
Trem3	A	G	17: 48,565,498 (GRCm39)	*184W	probably null	Het
Trim33	T	A	3: 103,253,956 (GRCm39)		probably benign	Het
Tsen2	G	A	6: 115,536,943 (GRCm39)	W233*	probably null	Het
Ttc21a	T	A	9: 119,774,605 (GRCm39)	N286K	probably damaging	Het
Tulp4	A	T	17: 6,248,983 (GRCm39)	M194L	probably benign	Het
Ube3b	C	A	5: 114,553,345 (GRCm39)	R906S	possibly damaging	Het
Ube3b	A	C	5: 114,556,687 (GRCm39)	D1006A	probably damaging	Het
Vipas39	A	T	12: 87,288,705 (GRCm39)		probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Zan	T	G	5: 137,423,824 (GRCm39)	I2692L	unknown	Het
Zfp142	C	A	1: 74,624,679 (GRCm39)	E48D	probably benign	Het
Zfp598	T	C	17: 24,896,504 (GRCm39)	Y194H	probably damaging	Het
Zfp85	T	C	13: 67,897,064 (GRCm39)	N336S	probably benign	Het
Zfyve27	A	T	19: 42,177,959 (GRCm39)		probably null	Het
Zp3	T	C	5: 136,011,559 (GRCm39)	S126P	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
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'- GTCTGAAATGGAAGCCTGTGTG -3'
(R):5'- ACCAGGATTCACCATTTCCTG -3'

Sequencing Primer
(F):5'- AAATGGAAGCCTGTGTGTGTTC -3'
(R):5'- AGGATTCACCATTTCCTGTACATTG -3'

Posted On

2019-10-07