Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Cpne8'

489724

Institutional Source

Beutler Lab

Gene Symbol

Cpne8

Ensembl Gene

ENSMUSG00000052560

Gene Name

copine VIII

Synonyms

1200003E11Rik, 1500031E20Rik

MMRRC Submission

044305-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90487482-90679432 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 90571988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 191 (S191A)

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: S191A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: S191A

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

0.3517

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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
2700049A03Rik	T	C	12: 71,170,636	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,512,672	T32A	probably benign	Het
Adprhl1	C	T	8: 13,224,977	V594M	possibly damaging	Het
Ano3	A	T	2: 110,665,875	Y845N	probably damaging	Het
Arhgap24	A	T	5: 102,892,912	I575L	probably benign	Het
Aurka	A	C	2: 172,363,596		probably null	Het
C1qtnf5	A	T	9: 44,108,970		probably benign	Het
Cacnb2	A	G	2: 14,985,601	D454G	possibly damaging	Het
Ccdc58	T	A	16: 36,089,929	V118D	probably damaging	Het
Chchd5	T	C	2: 129,130,517	L87P	probably damaging	Het
Col7a1	G	T	9: 108,964,603	R1377L	unknown	Het
Dhx30	A	T	9: 110,087,030	I671N	probably damaging	Het
Dnah12	A	T	14: 26,773,685	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,320,987	M272V	probably damaging	Het
Fat4	A	T	3: 38,983,262	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401	L1407F	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Gm11565	T	A	11: 99,914,918	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311	R30*	probably null	Het
Htt	T	C	5: 34,907,086	I2943T	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lmo7	T	A	14: 101,900,137	D247E	probably benign	Het
Mastl	G	T	2: 23,132,772	N646K	possibly damaging	Het
Mei4	G	T	9: 81,927,576	L237F	probably damaging	Het
Mettl27	C	T	5: 134,940,576	P170S	possibly damaging	Het
Mgam	T	A	6: 40,757,714	I896K	probably damaging	Het
Moxd1	T	A	10: 24,284,777	C443S	probably damaging	Het
Myo18b	A	T	5: 112,874,172	N451K	probably benign	Het
Myo7b	T	C	18: 31,988,549	I768V	probably benign	Het
Nos1	A	C	5: 117,867,574	I120L	probably benign	Het
Nsd1	T	C	13: 55,245,621	V345A	probably benign	Het
Olfr1095	A	G	2: 86,851,515	L61P	possibly damaging	Het
Olfr1205	T	C	2: 88,831,146	F10L	probably damaging	Het
Olfr150	C	T	9: 39,737,076	T87I	probably benign	Het
Olfr170	C	A	16: 19,605,925	V248F	probably damaging	Het
Olfr344	A	T	2: 36,569,116	T173S	probably benign	Het
Pdzph1	T	G	17: 58,973,627	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,747,876	L546*	probably null	Het
Pla2g4f	T	C	2: 120,301,071	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,424,676	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,804,021	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,967,254	D35G	probably damaging	Het
Rock2	A	G	12: 16,954,918	D424G	probably benign	Het
Scg2	A	T	1: 79,435,400	D495E	probably damaging	Het
Slc39a2	G	A	14: 51,894,224		probably null	Het
Snrnp48	T	A	13: 38,210,236	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176	M99T	probably damaging	Het
Specc1	T	G	11: 62,118,124	F235L	probably damaging	Het
St13	A	T	15: 81,399,601		probably null	Het
Swap70	T	A	7: 110,270,023	M341K	probably damaging	Het
Synj2	A	G	17: 5,986,212	D67G	probably benign	Het
Tmem135	T	A	7: 89,156,444	I251F	probably benign	Het
Tmem87a	A	T	2: 120,360,103		probably null	Het
Tom1l2	C	T	11: 60,232,927	D128N	probably damaging	Het
Tpx2	C	A	2: 152,873,104	H82N	probably benign	Het
Trip12	A	T	1: 84,761,012	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,125,562	T153A	probably benign	Het
Utrn	C	T	10: 12,690,822	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,036,289	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,933,680	D37V	probably damaging	Het
Vwce	C	T	19: 10,644,221	R206C	possibly damaging	Het
Wrn	G	T	8: 33,319,172	F265L	probably damaging	Het
Zfp472	T	A	17: 32,978,389	C479*	probably null	Het
Zfp831	A	T	2: 174,643,858	T109S	possibly damaging	Het
Znfx1	G	T	2: 167,056,726	Q93K	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
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
R5528:Cpne8	UTSW	15	90619690	missense	possibly damaging	0.95
R5946:Cpne8	UTSW	15	90488988	makesense	probably null
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'- AGGTTTGAAATAGAAAATCGCACCC -3'
(R):5'- TCCTTCAATAAGTAATGGCCTCTC -3'

Sequencing Primer
(F):5'- CGCACCCTTCTTTAAAGTATCAAG -3'
(R):5'- ATAAGTAATGGCCTCTCCTCTACAG -3'

Posted On

2017-10-10