Mutagenetix > Incidental Mutation

Incidental Mutation 'R4969:Cpne8'

384302

Institutional Source

Beutler Lab

Gene Symbol

Cpne8

Ensembl Gene

ENSMUSG00000052560

Gene Name

copine VIII

Synonyms

1500031E20Rik, 1200003E11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90371684-90563591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90503929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 79 (T79A)

Ref Sequence

ENSEMBL: ENSMUSP00000086024 (fasta)

Gene Model

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

AlphaFold

Q9DC53

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064391
AA Change: T79A

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: T79A

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 damaging
Transcript: ENSMUST00000088649
AA Change: T79A

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

SMART Domains

Protein: ENSMUSP00000086024
Gene: ENSMUSG00000052560
AA Change: T79A

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,754,943 (GRCm39)	I1525T	probably benign	Het
Agtpbp1	A	G	13: 59,648,392 (GRCm39)	V476A	probably benign	Het
Aipl1	A	G	11: 71,922,256 (GRCm39)	I151T	probably benign	Het
Apc	C	T	18: 34,445,971 (GRCm39)	R938*	probably null	Het
Atp2a2	A	G	5: 122,596,554 (GRCm39)	F855S	possibly damaging	Het
Axdnd1	T	C	1: 156,223,075 (GRCm39)	T261A	possibly damaging	Het
Cbfa2t2	A	G	2: 154,365,900 (GRCm39)	D370G	probably damaging	Het
Cep350	T	C	1: 155,736,025 (GRCm39)	I2964V	probably damaging	Het
Clec16a	T	C	16: 10,386,375 (GRCm39)	V158A	probably damaging	Het
Col6a5	G	A	9: 105,741,806 (GRCm39)	T2371I	probably damaging	Het
Cyp2b13	A	G	7: 25,780,413 (GRCm39)	R145G	probably damaging	Het
Disc1	G	A	8: 125,851,289 (GRCm39)	W391*	probably null	Het
Dnah8	G	A	17: 30,941,988 (GRCm39)	V1745I	probably damaging	Het
Dsp	T	C	13: 38,376,886 (GRCm39)	V1557A	probably benign	Het
Egfem1	T	A	3: 29,637,145 (GRCm39)	Y194N	probably damaging	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Esd	T	A	14: 74,982,153 (GRCm39)	S189R	possibly damaging	Het
Fancf	A	T	7: 51,511,196 (GRCm39)	Y269*	probably null	Het
Fbln2	A	T	6: 91,248,569 (GRCm39)	H1078L	possibly damaging	Het
Fbxw13	A	G	9: 109,010,592 (GRCm39)		probably null	Het
Fcgr2b	A	T	1: 170,790,941 (GRCm39)	V284D	probably benign	Het
Fuz	G	A	7: 44,549,718 (GRCm39)	G363R	probably damaging	Het
Gas7	A	G	11: 67,574,234 (GRCm39)	E403G	probably damaging	Het
Gnl1	A	G	17: 36,291,581 (GRCm39)	D49G	possibly damaging	Het
Gucy2g	A	G	19: 55,214,445 (GRCm39)	V561A	probably benign	Het
H1f7	A	T	15: 98,154,216 (GRCm39)	V311E	unknown	Het
Hebp2	T	C	10: 18,420,122 (GRCm39)	T104A	probably benign	Het
Ighv1-19	T	A	12: 114,672,377 (GRCm39)	Q80L	probably benign	Het
Kctd19	T	A	8: 106,122,959 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,955,428 (GRCm39)	L905P	probably damaging	Het
Klkb1	T	C	8: 45,735,814 (GRCm39)	D183G	probably benign	Het
Krt6b	T	C	15: 101,588,460 (GRCm39)	R67G	possibly damaging	Het
Krt75	T	C	15: 101,482,248 (GRCm39)	I7V	probably benign	Het
Lpo	A	T	11: 87,697,751 (GRCm39)	N685K	probably benign	Het
Mroh7	A	T	4: 106,538,070 (GRCm39)	I1202N	probably benign	Het
Muc4	T	A	16: 32,754,572 (GRCm38)	M1482K	probably benign	Het
Mylk	T	A	16: 34,791,810 (GRCm39)	V1494E	probably damaging	Het
Neurl4	A	G	11: 69,801,913 (GRCm39)	D17G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,725 (GRCm39)	Y228C	probably damaging	Het
Nprl2	G	A	9: 107,420,273 (GRCm39)		probably null	Het
Nxf1	A	G	19: 8,739,669 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or52u1	A	T	7: 104,237,730 (GRCm39)	N240Y	probably damaging	Het
Pde3b	A	G	7: 114,118,847 (GRCm39)	E662G	possibly damaging	Het
Plekhm3	G	A	1: 64,977,078 (GRCm39)	R131C	probably damaging	Het
Plpp7	T	C	2: 31,985,950 (GRCm39)	S43P	probably benign	Het
Pramel5	A	G	4: 143,998,187 (GRCm39)	L352P	probably damaging	Het
Prepl	T	C	17: 85,395,902 (GRCm39)	S27G	probably benign	Het
Ptprd	A	G	4: 76,051,542 (GRCm39)	I227T	probably damaging	Het
Pttg1ip	C	T	10: 77,419,854 (GRCm39)	Q6*	probably null	Het
Rgl1	C	T	1: 152,424,813 (GRCm39)		probably null	Het
Riiad1	C	A	3: 94,380,173 (GRCm39)	G41*	probably null	Het
Rnf214	C	T	9: 45,807,486 (GRCm39)	R239H	probably damaging	Het
Rpap3	C	T	15: 97,584,407 (GRCm39)	V346I	probably benign	Het
Scaf4	G	A	16: 90,048,831 (GRCm39)	Q328*	probably null	Het
Sec23a	A	G	12: 59,051,274 (GRCm39)		probably null	Het
Slc5a8	T	A	10: 88,740,774 (GRCm39)		probably null	Het
Slc9a8	A	G	2: 167,288,449 (GRCm39)	T183A	probably benign	Het
Sod3	A	T	5: 52,525,736 (GRCm39)	H145L	probably damaging	Het
Sp4	A	G	12: 118,263,341 (GRCm39)	V235A	probably damaging	Het
Spp1	A	C	5: 104,588,153 (GRCm39)	E185A	possibly damaging	Het
Susd1	A	T	4: 59,351,679 (GRCm39)	W461R	probably benign	Het
Svil	A	C	18: 5,095,516 (GRCm39)	K1124Q	probably damaging	Het
Tdrd12	A	T	7: 35,186,720 (GRCm39)		probably null	Het
Terb1	A	T	8: 105,221,795 (GRCm39)	N168K	probably benign	Het
Tnnt1	A	G	7: 4,510,573 (GRCm39)	L216P	probably damaging	Het
Ttc28	A	G	5: 111,424,121 (GRCm39)	K1463E	probably damaging	Het
Twf2	T	G	9: 106,089,098 (GRCm39)		probably null	Het
Urb1	C	T	16: 90,602,299 (GRCm39)	R90Q	probably damaging	Het
Wdr45b	A	T	11: 121,219,650 (GRCm39)	C299*	probably null	Het
Wrap73	A	G	4: 154,237,138 (GRCm39)	S54G	probably damaging	Het
Zeb2	T	C	2: 44,888,931 (GRCm39)	K323R	probably damaging	Het
Zfp410	T	C	12: 84,378,582 (GRCm39)	I302T	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
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
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'- TCAATACTGTGCTCCAGCTC -3'
(R):5'- CAGGCACATCTCTCTGAAGC -3'

Sequencing Primer
(F):5'- TCCGGGTACTCAGAGCAATC -3'
(R):5'- AGGCACATCTCTCTGAAGCTGTTG -3'

Posted On

2016-04-27