Mutagenetix > Incidental Mutations

Incidental Mutation 'R1568:Cpne8'

175446

Institutional Source

Beutler Lab

Gene Symbol

Cpne8

Ensembl Gene

ENSMUSG00000052560

Gene Name

copine VIII

Synonyms

1200003E11Rik, 1500031E20Rik

MMRRC Submission

039607-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R1568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90487482-90679432 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90619642 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 107 (R107S)

Ref Sequence

ENSEMBL: ENSMUSP00000086024 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064391
AA Change: R107S

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: R107S

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: R107S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086024
Gene: ENSMUSG00000052560
AA Change: R107S

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,589,971	K48E	probably damaging	Het
4931408C20Rik	T	C	1: 26,685,869	T77A	probably benign	Het
Adam18	T	G	8: 24,647,783		probably null	Het
Adgb	A	T	10: 10,442,665	Y138*	probably null	Het
Adra1d	T	C	2: 131,546,172	R488G	possibly damaging	Het
Ahnak	G	A	19: 9,002,375	G341E	probably damaging	Het
Ankmy1	T	C	1: 92,881,116	D690G	probably damaging	Het
Arhgef38	C	T	3: 133,132,464	E21K	probably damaging	Het
Atp8b2	T	C	3: 89,949,848	M402V	probably damaging	Het
Atp8b4	G	T	2: 126,325,394	H1062N	probably benign	Het
Bdnf	A	G	2: 109,723,794	H131R	probably damaging	Het
Cblb	C	T	16: 52,135,829	T265M	probably damaging	Het
Cenpe	T	A	3: 135,239,758	M1011K	probably benign	Het
Clca2	A	T	3: 145,075,649	Y711*	probably null	Het
Clca4a	A	G	3: 144,952,929	Y842H	probably benign	Het
Clspn	T	A	4: 126,581,517	M1021K	probably benign	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Dnah5	T	A	15: 28,409,177	N3580K	probably damaging	Het
Dsp	T	C	13: 38,175,147	I298T	probably damaging	Het
Dync2h1	T	C	9: 7,157,553	K858R	probably null	Het
Fasn	A	T	11: 120,813,249	V1448E	possibly damaging	Het
Ghdc	A	G	11: 100,768,505	I322T	probably benign	Het
Gins2	T	C	8: 120,582,200	D105G	probably damaging	Het
Insr	A	T	8: 3,165,576	D975E	probably benign	Het
Klrc3	T	C	6: 129,639,547	D169G	probably benign	Het
Krt76	T	A	15: 101,885,008	S532C	unknown	Het
Lamp3	A	T	16: 19,673,525	M323K	probably damaging	Het
Lgmn	T	C	12: 102,394,609	I423M	possibly damaging	Het
Lpgat1	A	T	1: 191,776,426	T359S	possibly damaging	Het
Lrguk	T	A	6: 34,086,438	I466N	probably damaging	Het
Magi3	A	C	3: 104,089,527	M234R	probably benign	Het
Myh14	G	A	7: 44,611,698	R1042*	probably null	Het
Nfia	T	G	4: 98,111,224	Y378D	possibly damaging	Het
Npffr1	T	A	10: 61,626,233	S383T	possibly damaging	Het
Olfr1308	C	A	2: 111,960,240	V278F	probably benign	Het
Olfr1410	T	C	1: 92,607,954	L39P	probably damaging	Het
Olfr1466	C	A	19: 13,342,175	P139Q	probably benign	Het
Olfr658	T	A	7: 104,644,770	I199F	probably benign	Het
Osr1	G	A	12: 9,579,798		probably null	Het
Pde4b	A	C	4: 102,597,699	R375S	probably damaging	Het
Pde8a	A	G	7: 81,292,263	E150G	probably damaging	Het
Pkhd1l1	A	T	15: 44,545,501		probably null	Het
Ppp3ca	A	G	3: 136,928,544	T422A	probably benign	Het
Proser1	T	C	3: 53,477,759	V354A	possibly damaging	Het
Rgs20	G	T	1: 5,020,827	R127S	probably benign	Het
Sec22a	T	C	16: 35,347,628	D171G	probably benign	Het
Secisbp2	A	G	13: 51,673,107	E417G	possibly damaging	Het
Serpinb6b	T	C	13: 32,974,912	L32S	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Slc39a10	A	T	1: 46,826,215	S487T	probably benign	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Spag6	A	G	2: 18,733,114	D265G	probably benign	Het
Sybu	G	T	15: 44,718,832	S132*	probably null	Het
Virma	T	C	4: 11,528,776	S1288P	probably damaging	Het
Vmn1r229	T	A	17: 20,814,805	V104D	probably damaging	Het
Vmn1r238	T	C	18: 3,123,358	T19A	probably benign	Het
Vmn2r86	C	T	10: 130,453,141	V164I	probably benign	Het
Wfdc13	G	T	2: 164,686,934	A64S	probably damaging	Het
Zfp873	C	A	10: 82,060,279	H318Q	probably damaging	Het
Zyg11a	A	G	4: 108,183,646		probably null	Het

Other mutations in Cpne8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Cpne8	APN	15	90497058	splice site	probably benign
IGL00545:Cpne8	APN	15	90540259	missense	probably benign
IGL00951:Cpne8	APN	15	90601893	intron	probably benign
IGL01069:Cpne8	APN	15	90615110	critical splice donor site	probably null
IGL01294:Cpne8	APN	15	90501445	missense	probably damaging	0.96
IGL01720:Cpne8	APN	15	90501500	missense	probably benign	0.01
IGL01843:Cpne8	APN	15	90569497	missense	probably benign	0.17
PIT4431001:Cpne8	UTSW	15	90551975	missense	probably damaging	0.98
R0016:Cpne8	UTSW	15	90501405	splice site	probably benign
R0016:Cpne8	UTSW	15	90501405	splice site	probably benign
R0032:Cpne8	UTSW	15	90569568	splice site	probably benign
R0032:Cpne8	UTSW	15	90569568	splice site	probably benign
R0096:Cpne8	UTSW	15	90499915	missense	probably benign	0.24
R0545:Cpne8	UTSW	15	90497075	missense	probably damaging	1.00
R0637:Cpne8	UTSW	15	90648621	missense	probably damaging	1.00
R0834:Cpne8	UTSW	15	90540259	missense	probably benign
R0894:Cpne8	UTSW	15	90649271	missense	probably damaging	0.97
R1629:Cpne8	UTSW	15	90571972	missense	probably benign	0.03
R1747:Cpne8	UTSW	15	90584915	missense	probably benign	0.00
R1761:Cpne8	UTSW	15	90648618	missense	probably damaging	1.00
R1884:Cpne8	UTSW	15	90648628	splice site	probably benign
R2357:Cpne8	UTSW	15	90619674	missense	probably damaging	0.99
R2434:Cpne8	UTSW	15	90509511	missense	probably benign	0.07
R4043:Cpne8	UTSW	15	90572001	missense	probably damaging	1.00
R4875:Cpne8	UTSW	15	90648568	splice site	probably benign
R4969:Cpne8	UTSW	15	90619726	missense	probably damaging	1.00
R4981:Cpne8	UTSW	15	90679235	missense	probably benign	0.05
R5086:Cpne8	UTSW	15	90648568	splice site	probably benign
R5154:Cpne8	UTSW	15	90499918	missense	probably benign	0.10
R5199:Cpne8	UTSW	15	90648609	missense	probably benign	0.10
R5424:Cpne8	UTSW	15	90516057	missense	probably benign	0.00
R5528:Cpne8	UTSW	15	90619690	missense	possibly damaging	0.95
R5946:Cpne8	UTSW	15	90488988	makesense	probably null
R6158:Cpne8	UTSW	15	90571988	missense	probably damaging	1.00
R6977:Cpne8	UTSW	15	90497091	missense	probably benign	0.10
R7486:Cpne8	UTSW	15	90515906	critical splice donor site	probably null
R7522:Cpne8	UTSW	15	90601819	missense	probably benign	0.09
R7684:Cpne8	UTSW	15	90649247	missense	probably damaging	1.00
R7726:Cpne8	UTSW	15	90501418	missense	possibly damaging	0.94
R7799:Cpne8	UTSW	15	90540247	missense	probably damaging	1.00
R8162:Cpne8	UTSW	15	90619678	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTGCTCCAGCTCTGGCTGAATAG -3'
(R):5'- CGGTAGTTTGGTCTTCAGGCACATC -3'

Sequencing Primer
(F):5'- GCTCTGGCTGAATAGAATAAAACTG -3'
(R):5'- AGGCACATCTCTCTGAAGCTG -3'

Posted On

2014-04-24