Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:Cpne8'

595520

Institutional Source

Beutler Lab

Gene Symbol

Cpne8

Ensembl Gene

ENSMUSG00000052560

Gene Name

copine VIII

Synonyms

1500031E20Rik, 1200003E11Rik

MMRRC Submission

045782-MU

Accession Numbers

Essential gene?

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

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90371684-90563591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90385621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 469 (I469K)

Ref Sequence

ENSEMBL: ENSMUSP00000067774 (fasta)

Gene Model

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

AlphaFold

Q9DC53

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064391
AA Change: I469K

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: I469K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (65/65)

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
Adam34	T	G	8: 44,104,208 (GRCm39)	N479T	probably damaging	Het
Add3	C	G	19: 53,227,892 (GRCm39)	L526V	probably damaging	Het
Alas1	T	C	9: 106,124,150 (GRCm39)	T3A	probably benign	Het
Arap3	C	T	18: 38,122,520 (GRCm39)	D579N	probably damaging	Het
Armc6	C	A	8: 70,675,248 (GRCm39)	D326Y	probably damaging	Het
Atp6v1e2	G	A	17: 87,251,813 (GRCm39)	T195I	probably damaging	Het
Atrnl1	A	G	19: 57,690,504 (GRCm39)	E904G	probably damaging	Het
Bhlhe40	T	A	6: 108,639,559 (GRCm39)	D112E	probably benign	Het
Brf1	T	G	12: 112,927,865 (GRCm39)	K438T	probably benign	Het
Cabs1	A	T	5: 88,128,145 (GRCm39)	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,429,071 (GRCm39)	M1937L	probably benign	Het
Cd55b	A	T	1: 130,339,230 (GRCm39)	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,213,510 (GRCm39)	*120W	probably null	Het
Col17a1	C	A	19: 47,643,629 (GRCm39)		probably null	Het
Crtac1	G	T	19: 42,290,690 (GRCm39)	S337*	probably null	Het
Cx3cl1	T	C	8: 95,506,867 (GRCm39)	S291P	probably damaging	Het
Dhx36	G	T	3: 62,396,389 (GRCm39)	Q423K	probably benign	Het
Eif3h	G	T	15: 51,650,219 (GRCm39)	Q322K	possibly damaging	Het
Ero1b	A	G	13: 12,620,722 (GRCm39)	*494W	probably null	Het
Exph5	G	A	9: 53,284,475 (GRCm39)	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam222b	A	G	11: 78,044,577 (GRCm39)	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,420,086 (GRCm39)	R509L	probably damaging	Het
Fgf14	T	C	14: 124,373,656 (GRCm39)	Y86C	probably damaging	Het
Fras1	A	T	5: 96,860,310 (GRCm39)	I2119F	probably benign	Het
Gpr37	G	A	6: 25,669,116 (GRCm39)	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,808,644 (GRCm39)	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,407,204 (GRCm39)	N342S	probably benign	Het
Kcnh6	T	C	11: 105,908,401 (GRCm39)	V339A	probably benign	Het
Klk1b9	A	T	7: 43,627,840 (GRCm39)	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,519,751 (GRCm39)	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428 (GRCm39)	Y306*	probably null	Het
Manba	C	T	3: 135,223,770 (GRCm39)	T219M	probably benign	Het
Mastl	T	C	2: 23,030,807 (GRCm39)		probably null	Het
Med15	T	G	16: 17,473,038 (GRCm39)	M550L	possibly damaging	Het
Men1	G	A	19: 6,387,312 (GRCm39)		probably null	Het
Msh4	C	T	3: 153,571,957 (GRCm39)		probably null	Het
Myh6	G	T	14: 55,202,822 (GRCm39)	D32E	probably damaging	Het
Ntmt2	A	G	1: 163,530,753 (GRCm39)	C229R	probably benign	Het
Ntn4	A	G	10: 93,569,544 (GRCm39)	D419G	possibly damaging	Het
Nup155	C	T	15: 8,151,623 (GRCm39)	P393S	probably damaging	Het
Or2y1d	T	A	11: 49,321,727 (GRCm39)	C141*	probably null	Het
Or6b2b	A	T	1: 92,419,029 (GRCm39)	F149L	probably benign	Het
Pakap	C	T	4: 57,709,876 (GRCm39)	P274S	probably damaging	Het
Papss2	A	T	19: 32,611,403 (GRCm39)		probably null	Het
Pcdhgc3	T	C	18: 37,939,932 (GRCm39)	V111A	possibly damaging	Het
Pcnx2	C	T	8: 126,577,069 (GRCm39)	V988I	probably benign	Het
Pom121	C	T	5: 135,407,002 (GRCm39)	G1178S	probably damaging	Het
Prss33	A	G	17: 24,053,203 (GRCm39)	C213R	probably damaging	Het
Scap	G	A	9: 110,207,435 (GRCm39)		probably null	Het
Shfl	T	C	9: 20,784,461 (GRCm39)	Y182H	possibly damaging	Het
Sirpb1c	T	A	3: 15,902,550 (GRCm39)	I10F	possibly damaging	Het
Slc28a2b	A	G	2: 122,317,214 (GRCm39)	E25G	probably damaging	Het
Spata31e2	C	A	1: 26,723,579 (GRCm39)	A534S	probably benign	Het
Spink5	T	C	18: 44,096,419 (GRCm39)	L16P	probably damaging	Het
Sting1	C	T	18: 35,868,318 (GRCm39)	A261T	probably damaging	Het
Stk4	T	G	2: 163,952,146 (GRCm39)	M1R	probably null	Het
Stub1	A	T	17: 26,050,106 (GRCm39)	Y253*	probably null	Het
Tasor	C	A	14: 27,169,454 (GRCm39)	N338K	probably damaging	Het
Tbce	A	G	13: 14,203,875 (GRCm39)	V29A	probably damaging	Het
Tchhl1	A	G	3: 93,379,065 (GRCm39)	R590G	probably benign	Het
Ubr4	C	T	4: 139,186,231 (GRCm39)	P613L	unknown	Het
Vmn2r3	G	T	3: 64,182,939 (GRCm39)	C253*	probably null	Het
Wfdc8	C	A	2: 164,441,906 (GRCm39)	E215D	possibly damaging	Het
Zfp874b	T	C	13: 67,621,975 (GRCm39)	D441G	probably benign	Het
Zscan4d	G	T	7: 10,899,169 (GRCm39)	P36Q	possibly 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
R2357:Cpne8	UTSW	15	90,503,877 (GRCm39)	missense	probably damaging	0.99
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
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'- CATGCAGCACTGGGATAAATG -3'
(R):5'- TGTATATCAGAGGCTTCCGGCG -3'

Sequencing Primer
(F):5'- CACTGGGATAAATGTGGGACTGTTTC -3'
(R):5'- CATTAGTAGAATGCTGGTTTGGCC -3'

Posted On

2019-11-12