Mutagenetix > Incidental Mutations

Incidental Mutation 'R5528:Cpne8'

433548

Institutional Source

Beutler Lab

Gene Symbol

Cpne8

Ensembl Gene

ENSMUSG00000052560

Gene Name

copine VIII

Synonyms

1200003E11Rik, 1500031E20Rik

MMRRC Submission

043086-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R5528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90487482-90679432 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90619690 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 91 (V91I)

Ref Sequence

ENSEMBL: ENSMUSP00000086024 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064391
AA Change: V91I

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: V91I

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

possibly damaging
Transcript: ENSMUST00000088649
AA Change: V91I

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086024
Gene: ENSMUSG00000052560
AA Change: V91I

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

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.4%
20x: 91.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,066,499	L483P	probably benign	Het
1700025F22Rik	T	C	19: 11,141,635	S37G	possibly damaging	Het
3110043O21Rik	T	C	4: 35,213,556	D198G	probably benign	Het
4930519G04Rik	T	G	5: 114,874,354		probably null	Het
Ablim2	C	T	5: 35,856,166	Q148*	probably null	Het
Ap3s2	A	T	7: 79,880,486	*194R	probably null	Het
Arpp21	C	T	9: 112,149,353	A235T	probably benign	Het
Ccdc33	T	C	9: 58,028,795	D939G	probably benign	Het
Celsr2	A	T	3: 108,413,294	I734N	probably damaging	Het
Clcn1	C	A	6: 42,300,341	N455K	probably benign	Het
Ddx1	A	G	12: 13,229,294	V448A	probably damaging	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Eif2a	G	T	3: 58,548,512	D311Y	probably damaging	Het
Eif2ak4	G	A	2: 118,427,938	E512K	probably damaging	Het
Esp15	A	T	17: 39,644,749	Y69F	probably benign	Het
Fam102a	G	A	2: 32,566,327	A334T	probably damaging	Het
Gm5689	A	G	18: 42,173,662		probably null	Het
Gucy1a1	A	T	3: 82,109,073	Y203N	probably damaging	Het
Hook3	T	C	8: 26,072,293	Q248R	probably damaging	Het
Ifit2	T	A	19: 34,573,537	V159E	possibly damaging	Het
Il17rd	T	C	14: 27,088,067	V20A	possibly damaging	Het
Kcnq3	T	A	15: 66,025,178	D291V	probably damaging	Het
Klf11	A	T	12: 24,654,930	M111L	probably benign	Het
Lama5	T	A	2: 180,194,563	H1165L	probably benign	Het
Lmo7	A	G	14: 101,902,086	N702S	probably damaging	Het
Lta4h	T	C	10: 93,471,874	V323A	probably damaging	Het
Mkrn3	T	C	7: 62,418,987	E352G	possibly damaging	Het
Mtf2	T	A	5: 108,094,157	L277Q	probably damaging	Het
Myo9b	A	G	8: 71,323,274	N370D	probably benign	Het
Nlrp4e	A	C	7: 23,336,891	K723T	probably benign	Het
Nsun3	A	G	16: 62,735,326	V279A	possibly damaging	Het
Pde6b	A	G	5: 108,423,558	D459G	probably benign	Het
Phgdh	T	C	3: 98,328,339	I121V	probably benign	Het
Pik3r5	T	C	11: 68,495,977	C811R	probably damaging	Het
Spaca6	A	C	17: 17,831,082	I27L	probably benign	Het
Trmt1l	G	A	1: 151,454,995	V588I	probably benign	Het
Tshr	A	G	12: 91,537,193	N302D	probably damaging	Het
Vmn2r23	A	G	6: 123,713,002	D279G	probably damaging	Het
Wnt3a	T	C	11: 59,275,280	N58S	probably damaging	Het
Zkscan8	A	G	13: 21,520,725	V276A	probably damaging	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
R1568:Cpne8	UTSW	15	90619642	missense	probably damaging	0.98
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
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
R8405:Cpne8	UTSW	15	90572032	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- TCAATACTGTGCTCCAGCTCTG -3'
(R):5'- CATCTCTCTGAAGCTGTTGTTG -3'

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

Posted On

2016-10-06