Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:Cpne8'

44786

Institutional Source

Beutler Lab

Gene Symbol

Cpne8

Ensembl Gene

ENSMUSG00000052560

Gene Name

copine VIII

Synonyms

1200003E11Rik, 1500031E20Rik

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

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

Stock #

R0545 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

90487482-90679432 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90497075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 512 (D512V)

Ref Sequence

ENSEMBL: ENSMUSP00000067774 (fasta)

Gene Model

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

AlphaFold

Q9DC53

Predicted Effect

probably damaging
Transcript: ENSMUST00000064391
AA Change: D512V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: D512V

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

Meta Mutation Damage Score

0.9634

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,542,376	R76H	probably damaging	Het
4932438A13Rik	G	A	3: 36,987,690		probably benign	Het
Adnp2	T	C	18: 80,129,401	I598V	probably benign	Het
Ago3	T	C	4: 126,417,232	N63D	probably damaging	Het
Alkbh7	C	T	17: 56,999,012	R138*	probably null	Het
Atp6ap1l	T	C	13: 90,883,663	H300R	probably benign	Het
BC051076	C	T	5: 87,963,490		noncoding transcript	Het
Bpifb9a	T	A	2: 154,261,950	C104*	probably null	Het
Cacna2d2	T	C	9: 107,525,223	L826P	probably damaging	Het
Car5b	G	A	X: 163,979,301	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,947,188	D526G	probably damaging	Het
Cdh23	T	A	10: 60,331,291	T1861S	probably benign	Het
Ces2f	A	C	8: 104,950,036	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,941,097		probably benign	Het
Chpf2	T	C	5: 24,590,324	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,933,772	R332W	probably damaging	Het
Cma2	A	T	14: 55,973,113	M86L	probably benign	Het
Cog6	A	T	3: 52,996,075	M134K	probably damaging	Het
Col1a1	A	G	11: 94,951,594	D1446G	unknown	Het
Ctnna2	T	A	6: 77,605,182	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,886,661	L16R	probably damaging	Het
Dysf	T	C	6: 84,099,461	S603P	probably damaging	Het
Epha5	A	G	5: 84,067,358		probably null	Het
Ercc3	T	C	18: 32,245,902	S270P	probably damaging	Het
F10	T	A	8: 13,048,249	C151S	probably damaging	Het
Gpr180	T	G	14: 118,160,046	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,041,633	E32G	possibly damaging	Het
Ikzf5	T	C	7: 131,392,500	T133A	possibly damaging	Het
Itch	G	T	2: 155,182,298	G274*	probably null	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Lama3	T	A	18: 12,561,701	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,812,705	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,350,758	D197G	probably benign	Het
Mfap2	A	G	4: 141,014,185		probably benign	Het
Mfhas1	A	G	8: 35,589,048	K226E	probably damaging	Het
Morc1	A	G	16: 48,565,657	R548G	probably benign	Het
Mrgprb5	T	C	7: 48,168,885	N34S	probably benign	Het
Mroh4	T	C	15: 74,625,427	T182A	probably benign	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,167,037	F743L	possibly damaging	Het
Notch4	A	C	17: 34,583,433	D1276A	probably damaging	Het
Olfr139	A	G	11: 74,045,047	C76R	possibly damaging	Het
Olfr215	T	A	6: 116,582,656	I97L	probably benign	Het
Olfr394	A	T	11: 73,888,017	Y118*	probably null	Het
Olfr799	T	A	10: 129,647,349	C74S	probably damaging	Het
Plin4	T	A	17: 56,106,567	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357	T827A	probably benign	Het
Prlr	C	T	15: 10,317,566	T40I	probably damaging	Het
Psme3	T	C	11: 101,319,904		probably benign	Het
Pygb	A	T	2: 150,815,706	D363V	probably benign	Het
Rsph6a	C	T	7: 19,054,946	Q68*	probably null	Het
Serpini2	A	G	3: 75,258,138	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,851,888		probably benign	Het
Skint7	A	C	4: 111,980,198	M58L	probably benign	Het
Slco3a1	G	T	7: 74,320,553	Y435*	probably null	Het
Stk17b	T	C	1: 53,762,583		probably benign	Het
Tinag	T	A	9: 77,031,710	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,958,799	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,759,097	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,053,613	V41F	probably benign	Het
Washc5	C	T	15: 59,342,093	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,806,813	T352A	probably damaging	Het
Zan	A	C	5: 137,396,177	C4467G	unknown	Het
Zc3h7a	T	C	16: 11,152,333		probably benign	Het
Zfp729a	C	A	13: 67,620,226	C628F	probably benign	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
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
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
R8353:Cpne8	UTSW	15	90541293	missense	possibly damaging	0.80
R8405:Cpne8	UTSW	15	90572032	missense	possibly damaging	0.67
R8842:Cpne8	UTSW	15	90572015	missense	probably benign
R8856:Cpne8	UTSW	15	90601841	missense	probably benign	0.06
R8922:Cpne8	UTSW	15	90572010	missense	probably damaging	1.00
R9058:Cpne8	UTSW	15	90497073	missense	probably damaging	1.00
R9550:Cpne8	UTSW	15	90569557	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GCACTCTACAAACAGTGAGCCTGAG -3'
(R):5'- TGACATCCGGCTGTTAACTTCACG -3'

Sequencing Primer
(F):5'- CAAACAGTGAGCCTGAGACAAAG -3'
(R):5'- TAACTTCACGGGGTGCG -3'

Posted On

2013-06-11