Mutagenetix > Incidental Mutation

Incidental Mutation 'R0032:Cpne8'

59441

Institutional Source

Beutler Lab

Gene Symbol

Cpne8

Ensembl Gene

ENSMUSG00000052560

Gene Name

copine VIII

Synonyms

1500031E20Rik, 1200003E11Rik

MMRRC Submission

038326-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0032 (G1) of strain 731

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90371684-90563591 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 90453771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000086024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064391] [ENSMUST00000088649]

AlphaFold

Q9DC53

Predicted Effect

probably benign
Transcript: ENSMUST00000064391

SMART Domains

Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560

Domain	Start	End	E-Value	Type
C2	37	145	9.76e-10	SMART
C2	170	277	1.06e-10	SMART
low complexity region	284	291	N/A	INTRINSIC
VWA	320	518	1.34e-9	SMART
low complexity region	559	569	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088649

SMART Domains

Protein: ENSMUSP00000086024
Gene: ENSMUSG00000052560

Domain	Start	End	E-Value	Type
C2	37	139	8.78e-3	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (89/89)

MGI Phenotype

FUNCTION: This gene encodes a member of the copine family of highly conserved, calcium-dependent phospholipid binding proteins. The encoded protein has two characteristic C2 domains and a VWFA domain and may play a role in membrane trafficking. A related pseudogene is found on chromosome 8. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,959,156 (GRCm39)	T97S	probably benign	Het
Adcy1	T	C	11: 7,094,729 (GRCm39)	S552P	possibly damaging	Het
Arrb1	T	C	7: 99,231,472 (GRCm39)	F9L	probably damaging	Het
Auts2	G	C	5: 131,468,931 (GRCm39)	D571E	probably damaging	Het
C2cd3	T	A	7: 100,093,652 (GRCm39)		probably benign	Het
Ccbe1	T	G	18: 66,424,723 (GRCm39)	T35P	possibly damaging	Het
Cct6b	G	T	11: 82,644,469 (GRCm39)	T202K	possibly damaging	Het
Cd86	A	T	16: 36,441,235 (GRCm39)	S77R	probably damaging	Het
Cdk5rap3	A	T	11: 96,799,579 (GRCm39)	L412Q	possibly damaging	Het
Cdsn	G	A	17: 35,866,452 (GRCm39)	G327D	probably damaging	Het
Cfap54	C	T	10: 92,768,559 (GRCm39)	R188H	probably benign	Het
Clca3a2	T	A	3: 144,522,494 (GRCm39)	I176F	probably benign	Het
Cop1	T	C	1: 159,152,606 (GRCm39)		probably null	Het
Ctsg	T	A	14: 56,339,196 (GRCm39)	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,457,043 (GRCm39)	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,746,387 (GRCm39)		probably null	Het
Des	A	G	1: 75,338,810 (GRCm39)	E195G	possibly damaging	Het
Dicer1	A	T	12: 104,671,057 (GRCm39)	L995*	probably null	Het
Dnah10	A	G	5: 124,877,955 (GRCm39)	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Dnmbp	A	C	19: 43,891,158 (GRCm39)	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,504,648 (GRCm39)	S829F	probably damaging	Het
Enkur	T	C	2: 21,194,115 (GRCm39)	I153V	probably benign	Het
Epb41l3	G	T	17: 69,517,379 (GRCm39)		probably null	Het
Erf	T	C	7: 24,944,500 (GRCm39)	Y277C	possibly damaging	Het
Fcsk	G	A	8: 111,618,735 (GRCm39)	T341M	possibly damaging	Het
Fstl5	T	A	3: 76,555,742 (GRCm39)		probably benign	Het
Galnt16	T	C	12: 80,639,243 (GRCm39)	V419A	probably damaging	Het
Gm10226	A	G	17: 21,910,963 (GRCm39)	D66G	possibly damaging	Het
Gm15821	T	A	17: 34,431,199 (GRCm39)		probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Impdh2	A	G	9: 108,438,860 (GRCm39)	D71G	probably damaging	Het
Ipo11	A	C	13: 106,970,971 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,712,209 (GRCm39)	C261R	probably damaging	Het
Iqsec3	T	C	6: 121,450,089 (GRCm39)	D145G	possibly damaging	Het
Itga11	T	C	9: 62,681,377 (GRCm39)	F998L	probably benign	Het
Junb	T	C	8: 85,704,415 (GRCm39)	H215R	probably benign	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kcnn3	CGCAGCAGCAGCAGCAGCAGCAG	CGCAGCAGCAGCAGCAGCAG	3: 89,427,972 (GRCm39)		probably benign	Het
Krt73	T	C	15: 101,702,487 (GRCm39)	S459G	probably benign	Het
Krt74	T	A	15: 101,669,887 (GRCm39)		noncoding transcript	Het
Meis3	C	A	7: 15,916,210 (GRCm39)		probably benign	Het
Mlh3	A	G	12: 85,292,523 (GRCm39)		probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Naip6	C	T	13: 100,439,745 (GRCm39)	E341K	probably benign	Het
Nbeal2	G	T	9: 110,466,936 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,015,321 (GRCm39)	V842E	probably benign	Het
Oma1	T	A	4: 103,223,209 (GRCm39)	S465T	possibly damaging	Het
Opa1	A	T	16: 29,433,887 (GRCm39)	H574L	probably damaging	Het
Or10al2	T	A	17: 37,983,378 (GRCm39)	W155R	probably damaging	Het
Or6c210	T	A	10: 129,496,269 (GRCm39)	V198D	probably benign	Het
Or8c13	A	G	9: 38,091,904 (GRCm39)	C72R	probably damaging	Het
Otog	T	A	7: 45,937,637 (GRCm39)	L1782*	probably null	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Pcsk5	T	C	19: 17,542,179 (GRCm39)	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,112,728 (GRCm39)		probably benign	Het
Pilra	T	A	5: 137,829,527 (GRCm39)	D179V	probably damaging	Het
Piwil1	G	A	5: 128,820,344 (GRCm39)	S247N	probably benign	Het
Ppp2r1a	G	A	17: 21,165,846 (GRCm39)		probably benign	Het
Prss58	T	G	6: 40,872,633 (GRCm39)	T158P	probably benign	Het
Setmar	T	A	6: 108,053,377 (GRCm39)	C290*	probably null	Het
Slc35e3	T	C	10: 117,580,837 (GRCm39)	M156V	probably benign	Het
Slc4a5	T	A	6: 83,250,139 (GRCm39)	I509N	probably damaging	Het
Slit2	G	A	5: 48,414,198 (GRCm39)	R938Q	probably damaging	Het
Snrpn	A	G	7: 59,634,830 (GRCm39)	Y168H	probably damaging	Het
Sycn	C	T	7: 28,240,717 (GRCm39)	A128V	possibly damaging	Het
Synm	C	A	7: 67,383,675 (GRCm39)	R1329M	possibly damaging	Het
Syt8	T	C	7: 141,992,926 (GRCm39)	V152A	probably benign	Het
Tcp10a	T	C	17: 7,604,306 (GRCm39)	M247T	probably benign	Het
Tjp2	A	G	19: 24,086,059 (GRCm39)	L821S	probably damaging	Het
Tppp2	G	T	14: 52,156,866 (GRCm39)	R81L	possibly damaging	Het
Trim34b	A	G	7: 103,985,784 (GRCm39)	D473G	possibly damaging	Het
Trpc3	A	G	3: 36,698,405 (GRCm39)	I618T	probably damaging	Het
Trpm5	A	T	7: 142,638,978 (GRCm39)	D264E	probably damaging	Het
Tuba8	A	T	6: 121,202,863 (GRCm39)	D392V	probably benign	Het
Vmn1r50	C	A	6: 90,084,782 (GRCm39)	P176T	probably damaging	Het
Vmn1r76	T	C	7: 11,665,194 (GRCm39)	I7V	probably benign	Het
Vmn2r26	T	A	6: 124,016,858 (GRCm39)	W441R	possibly damaging	Het
Vmn2r57	T	C	7: 41,049,157 (GRCm39)		probably null	Het
Zc3h4	T	A	7: 16,168,565 (GRCm39)	D891E	unknown	Het
Zfp120	A	T	2: 149,959,512 (GRCm39)	V270E	possibly damaging	Het
Znhit1	G	C	5: 137,013,901 (GRCm39)	R8G	possibly damaging	Het

Other mutations in Cpne8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Cpne8	APN	15	90,381,261 (GRCm39)	splice site	probably benign
IGL00545:Cpne8	APN	15	90,424,462 (GRCm39)	missense	probably benign
IGL00951:Cpne8	APN	15	90,486,096 (GRCm39)	intron	probably benign
IGL01069:Cpne8	APN	15	90,499,313 (GRCm39)	critical splice donor site	probably null
IGL01294:Cpne8	APN	15	90,385,648 (GRCm39)	missense	probably damaging	0.96
IGL01720:Cpne8	APN	15	90,385,703 (GRCm39)	missense	probably benign	0.01
IGL01843:Cpne8	APN	15	90,453,700 (GRCm39)	missense	probably benign	0.17
PIT4431001:Cpne8	UTSW	15	90,436,178 (GRCm39)	missense	probably damaging	0.98
R0016:Cpne8	UTSW	15	90,385,608 (GRCm39)	splice site	probably benign
R0016:Cpne8	UTSW	15	90,385,608 (GRCm39)	splice site	probably benign
R0032:Cpne8	UTSW	15	90,453,771 (GRCm39)	splice site	probably benign
R0096:Cpne8	UTSW	15	90,384,118 (GRCm39)	missense	probably benign	0.24
R0545:Cpne8	UTSW	15	90,381,278 (GRCm39)	missense	probably damaging	1.00
R0637:Cpne8	UTSW	15	90,532,824 (GRCm39)	missense	probably damaging	1.00
R0834:Cpne8	UTSW	15	90,424,462 (GRCm39)	missense	probably benign
R0894:Cpne8	UTSW	15	90,533,474 (GRCm39)	missense	probably damaging	0.97
R1568:Cpne8	UTSW	15	90,503,845 (GRCm39)	missense	probably damaging	0.98
R1629:Cpne8	UTSW	15	90,456,175 (GRCm39)	missense	probably benign	0.03
R1747:Cpne8	UTSW	15	90,469,118 (GRCm39)	missense	probably benign	0.00
R1761:Cpne8	UTSW	15	90,532,821 (GRCm39)	missense	probably damaging	1.00
R1884:Cpne8	UTSW	15	90,532,831 (GRCm39)	splice site	probably benign
R2357:Cpne8	UTSW	15	90,503,877 (GRCm39)	missense	probably damaging	0.99
R2434:Cpne8	UTSW	15	90,393,714 (GRCm39)	missense	probably benign	0.07
R4043:Cpne8	UTSW	15	90,456,204 (GRCm39)	missense	probably damaging	1.00
R4875:Cpne8	UTSW	15	90,532,771 (GRCm39)	splice site	probably benign
R4969:Cpne8	UTSW	15	90,503,929 (GRCm39)	missense	probably damaging	1.00
R4981:Cpne8	UTSW	15	90,563,438 (GRCm39)	missense	probably benign	0.05
R5086:Cpne8	UTSW	15	90,532,771 (GRCm39)	splice site	probably benign
R5154:Cpne8	UTSW	15	90,384,121 (GRCm39)	missense	probably benign	0.10
R5199:Cpne8	UTSW	15	90,532,812 (GRCm39)	missense	probably benign	0.10
R5424:Cpne8	UTSW	15	90,400,260 (GRCm39)	missense	probably benign	0.00
R5528:Cpne8	UTSW	15	90,503,893 (GRCm39)	missense	possibly damaging	0.95
R5946:Cpne8	UTSW	15	90,373,191 (GRCm39)	makesense	probably null
R6158:Cpne8	UTSW	15	90,456,191 (GRCm39)	missense	probably damaging	1.00
R6977:Cpne8	UTSW	15	90,381,294 (GRCm39)	missense	probably benign	0.10
R7486:Cpne8	UTSW	15	90,400,109 (GRCm39)	critical splice donor site	probably null
R7522:Cpne8	UTSW	15	90,486,022 (GRCm39)	missense	probably benign	0.09
R7684:Cpne8	UTSW	15	90,533,450 (GRCm39)	missense	probably damaging	1.00
R7726:Cpne8	UTSW	15	90,385,621 (GRCm39)	missense	possibly damaging	0.94
R7799:Cpne8	UTSW	15	90,424,450 (GRCm39)	missense	probably damaging	1.00
R8162:Cpne8	UTSW	15	90,503,881 (GRCm39)	missense	probably benign
R8353:Cpne8	UTSW	15	90,425,496 (GRCm39)	missense	possibly damaging	0.80
R8405:Cpne8	UTSW	15	90,456,235 (GRCm39)	missense	possibly damaging	0.67
R8842:Cpne8	UTSW	15	90,456,218 (GRCm39)	missense	probably benign
R8856:Cpne8	UTSW	15	90,486,044 (GRCm39)	missense	probably benign	0.06
R8922:Cpne8	UTSW	15	90,456,213 (GRCm39)	missense	probably damaging	1.00
R9058:Cpne8	UTSW	15	90,381,276 (GRCm39)	missense	probably damaging	1.00
R9550:Cpne8	UTSW	15	90,453,760 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ATGAACATTCCCCGTGCTCAGTC -3'
(R):5'- TAAATCAGGTGGCGACAGCAGC -3'

Sequencing Primer
(F):5'- GCTCAGTCTGCATGTCTCAG -3'
(R):5'- TGGGCAACAGTAACTCTGC -3'

Posted On

2013-07-11