Mutagenetix > Incidental Mutation

Incidental Mutation 'R2357:Cpne8'

247467

Institutional Source

Beutler Lab

Gene Symbol

Cpne8

Ensembl Gene

ENSMUSG00000052560

Gene Name

copine VIII

Synonyms

1500031E20Rik, 1200003E11Rik

MMRRC Submission

040339-MU

Accession Numbers

Essential gene?

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

Stock #

R2357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90371684-90563591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90503877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 96 (L96Q)

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: L96Q

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: L96Q

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: L96Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000086024
Gene: ENSMUSG00000052560
AA Change: L96Q

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

Meta Mutation Damage Score

0.7369

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,569,844 (GRCm39)	T520K	possibly damaging	Het
Abca13	T	C	11: 9,247,336 (GRCm39)	L2361P	probably damaging	Het
Acsl6	T	A	11: 54,218,106 (GRCm39)	M248K	probably damaging	Het
Adam11	G	T	11: 102,665,334 (GRCm39)	V467L	probably benign	Het
Afap1	C	T	5: 36,141,618 (GRCm39)	H501Y	probably damaging	Het
Ankrd28	A	T	14: 31,486,251 (GRCm39)	Y22*	probably null	Het
Ccdc124	A	T	8: 71,321,179 (GRCm39)	L187Q	probably damaging	Het
Cdc42bpa	G	A	1: 179,894,792 (GRCm39)	S324N	possibly damaging	Het
Cgnl1	T	A	9: 71,632,950 (GRCm39)	K134*	probably null	Het
Cnpy3	G	T	17: 47,062,909 (GRCm39)	S47R	probably damaging	Het
Crisp3	A	T	17: 40,533,396 (GRCm39)	Y212N	probably damaging	Het
Cryba1	A	T	11: 77,613,427 (GRCm39)		probably benign	Het
Cyc1	A	G	15: 76,229,766 (GRCm39)	M288V	possibly damaging	Het
Dnah8	T	A	17: 30,990,846 (GRCm39)	D3296E	probably benign	Het
Dnah8	A	G	17: 31,093,909 (GRCm39)	T4668A	probably benign	Het
Dnajb6	T	A	5: 29,958,638 (GRCm39)	F113I	probably damaging	Het
Dync2h1	A	G	9: 7,081,053 (GRCm39)	I2881T	probably benign	Het
Eps8l1	T	C	7: 4,473,354 (GRCm39)	S179P	probably benign	Het
Esco2	C	A	14: 66,064,000 (GRCm39)	A395S	probably benign	Het
Evi5l	T	C	8: 4,243,113 (GRCm39)		probably benign	Het
Exoc6b	T	C	6: 84,966,321 (GRCm39)	T218A	possibly damaging	Het
Gde1	A	T	7: 118,290,814 (GRCm39)	F170L	probably benign	Het
Ggt5	A	C	10: 75,445,075 (GRCm39)	I361L	probably benign	Het
Golga3	C	T	5: 110,350,514 (GRCm39)	T683M	probably damaging	Het
Golgb1	A	G	16: 36,732,370 (GRCm39)	Q539R	probably damaging	Het
Grm2	A	G	9: 106,524,780 (GRCm39)	V645A	probably damaging	Het
Gtf2h4	A	T	17: 35,978,891 (GRCm39)	V408D	probably damaging	Het
Gucy1a2	A	T	9: 3,797,299 (GRCm39)	H583L	probably damaging	Het
Hivep2	C	T	10: 14,019,043 (GRCm39)	A1938V	probably benign	Het
Iars1	T	C	13: 49,841,679 (GRCm39)	Y56H	probably damaging	Het
Il17re	A	G	6: 113,445,431 (GRCm39)	I381V	possibly damaging	Het
Klrd1	T	A	6: 129,573,872 (GRCm39)	*71K	probably null	Het
Kng1	A	T	16: 22,897,815 (GRCm39)	Y405F	possibly damaging	Het
Kptn	G	T	7: 15,859,709 (GRCm39)	C311F	probably damaging	Het
Lama5	T	C	2: 179,821,890 (GRCm39)	I2982V	probably benign	Het
Mamstr	G	T	7: 45,291,754 (GRCm39)	D35Y	probably damaging	Het
Mdc1	A	G	17: 36,158,337 (GRCm39)	D239G	probably benign	Het
Mindy3	T	G	2: 12,408,987 (GRCm39)		probably benign	Het
Mrpl39	A	T	16: 84,524,452 (GRCm39)	H204Q	probably benign	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myo5a	T	A	9: 75,108,647 (GRCm39)	M1476K	probably damaging	Het
Nol4	A	G	18: 23,172,967 (GRCm39)	S45P	probably benign	Het
Nol8	T	C	13: 49,807,980 (GRCm39)		probably null	Het
Or4f61	A	G	2: 111,922,743 (GRCm39)	I101T	possibly damaging	Het
Or5d18	A	T	2: 87,865,028 (GRCm39)	W152R	probably damaging	Het
Or6c207	C	A	10: 129,104,642 (GRCm39)	K183N	probably benign	Het
Or8b56	T	C	9: 38,739,634 (GRCm39)	S216P	probably benign	Het
Plau	T	A	14: 20,888,683 (GRCm39)	V100D	probably damaging	Het
Plpp7	T	C	2: 31,999,654 (GRCm39)	V6A	probably benign	Het
Prr14	T	C	7: 127,074,535 (GRCm39)	S356P	probably benign	Het
Rabl3	A	G	16: 37,362,293 (GRCm39)	D44G	probably null	Het
Rasa4	T	C	5: 136,120,101 (GRCm39)	V59A	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rictor	A	T	15: 6,813,043 (GRCm39)	N932I	probably damaging	Het
Rpl9-ps6	A	G	19: 32,443,743 (GRCm39)	V70A	probably benign	Het
S100a7l2	A	T	3: 90,995,733 (GRCm39)	S56R	probably benign	Het
St3gal1	A	G	15: 66,985,631 (GRCm39)	Y8H	probably benign	Het
Strn	G	A	17: 78,963,028 (GRCm39)	T745I	probably damaging	Het
Tbx15	C	T	3: 99,223,672 (GRCm39)		probably null	Het
Tbx20	T	A	9: 24,681,072 (GRCm39)	D140V	possibly damaging	Het
Ttn	A	C	2: 76,666,923 (GRCm39)	Y42*	probably null	Het
Usp9y	G	A	Y: 1,394,050 (GRCm39)	T560I	possibly damaging	Het
Vmn2r111	A	G	17: 22,778,151 (GRCm39)		probably benign	Het
Vps13d	GG	GGGGGG	4: 144,801,547 (GRCm39)		probably null	Het
Wfdc12	A	T	2: 164,032,170 (GRCm39)	I40N	probably damaging	Het
Zfp78	G	A	7: 6,382,056 (GRCm39)	G369R	probably 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
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
R4969:Cpne8	UTSW	15	90,503,929 (GRCm39)	missense	probably damaging	1.00
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'- AATACTGTGCTCCAGCTCTG -3'
(R):5'- CATCTCTCTGAAGCTGTTGTTG -3'

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

Posted On

2014-11-11