Mutagenetix > Incidental Mutation

Incidental Mutation 'R6849:Cpne9'

534906

Institutional Source

Beutler Lab

Gene Symbol

Cpne9

Ensembl Gene

ENSMUSG00000030270

Gene Name

copine family member IX

Synonyms

A730016F12Rik

MMRRC Submission

044953-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R6849 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113259244-113282532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 113279079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 491 (V491G)

Ref Sequence

ENSEMBL: ENSMUSP00000044416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041203] [ENSMUST00000130191]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041203
AA Change: V491G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: V491G

Domain	Start	End	E-Value	Type
C2	14	122	2.12e-10	SMART
C2	143	257	5.15e-9	SMART
VWA	297	495	4.4e-10	SMART
low complexity region	536	553	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130191

Meta Mutation Damage Score

0.8933

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	G	T	8: 125,366,261 (GRCm39)	Q161K	probably damaging	Het
4930578I06Rik	A	T	14: 64,223,687 (GRCm39)	W30R	probably damaging	Het
4930578I06Rik	G	T	14: 64,223,688 (GRCm39)	N29K	probably benign	Het
Aldh6a1	A	G	12: 84,490,561 (GRCm39)	V18A	probably benign	Het
Apoa5	A	G	9: 46,181,298 (GRCm39)	K125E	probably benign	Het
Atosa	A	C	9: 74,916,594 (GRCm39)	N398H	probably damaging	Het
Bphl	T	A	13: 34,234,252 (GRCm39)		probably null	Het
C2cd3	T	A	7: 100,056,134 (GRCm39)	V514E	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Cep192	A	G	18: 67,945,506 (GRCm39)	D202G	probably benign	Het
Chd5	A	T	4: 152,462,995 (GRCm39)	N1420Y	probably damaging	Het
Cnot10	A	T	9: 114,461,004 (GRCm39)	D55E	probably benign	Het
Cntn1	T	A	15: 92,203,127 (GRCm39)	I803N	probably damaging	Het
Col7a1	G	T	9: 108,804,121 (GRCm39)	V2217L	unknown	Het
Cracd	C	A	5: 77,004,857 (GRCm39)	A406E	unknown	Het
Cracd	C	T	5: 77,005,004 (GRCm39)	A455V	unknown	Het
Csnk2a1	C	A	2: 152,092,484 (GRCm39)	H18Q	probably benign	Het
D130040H23Rik	T	A	8: 69,755,303 (GRCm39)	Y253*	probably null	Het
Dnah14	A	T	1: 181,636,510 (GRCm39)	M4321L	probably benign	Het
Dnah5	A	G	15: 28,278,770 (GRCm39)	T1122A	probably benign	Het
Eif4g1	A	G	16: 20,499,495 (GRCm39)	I515V	probably benign	Het
Fbn1	T	C	2: 125,163,611 (GRCm39)	K2082E	possibly damaging	Het
Fstl1	A	G	16: 37,641,521 (GRCm39)	K99R	probably benign	Het
Gar1	T	C	3: 129,623,038 (GRCm39)	N117S	probably damaging	Het
Gm3238	A	T	10: 77,606,744 (GRCm39)		probably benign	Het
Gm32742	C	T	9: 51,050,014 (GRCm39)	M1528I	probably benign	Het
H2-T3	T	C	17: 36,500,697 (GRCm39)	I49V	probably benign	Het
Hyou1	A	G	9: 44,298,561 (GRCm39)	I581V	probably damaging	Het
Itk	T	C	11: 46,222,762 (GRCm39)	N563S	probably damaging	Het
Lingo1	A	G	9: 56,526,900 (GRCm39)	L563P	probably damaging	Het
Lipc	A	G	9: 70,726,129 (GRCm39)		probably null	Het
Map4k3	A	C	17: 80,937,842 (GRCm39)		probably null	Het
Mctp2	C	T	7: 71,861,466 (GRCm39)	C393Y	probably damaging	Het
Mei1	T	A	15: 81,964,146 (GRCm39)	L229M	possibly damaging	Het
Or13g1	T	C	7: 85,956,248 (GRCm39)	I24M	possibly damaging	Het
Or9i2	G	T	19: 13,816,203 (GRCm39)	C111*	probably null	Het
Pcnx2	A	G	8: 126,587,949 (GRCm39)	V833A	probably damaging	Het
Pde8b	T	C	13: 95,184,307 (GRCm39)	N388D	possibly damaging	Het
Pi4ka	G	A	16: 17,121,285 (GRCm39)	A1197V	possibly damaging	Het
Psd	A	G	19: 46,306,185 (GRCm39)	Y36H	probably damaging	Het
Scn8a	T	A	15: 100,853,468 (GRCm39)		probably null	Het
Shisa6	A	G	11: 66,416,327 (GRCm39)	V155A	probably benign	Het
Slc45a3	T	A	1: 131,905,702 (GRCm39)	C242S	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tmc3	T	A	7: 83,235,565 (GRCm39)	I54K	probably damaging	Het
Tmprss11g	T	A	5: 86,644,491 (GRCm39)	I118F	probably benign	Het
Ttn	T	A	2: 76,744,687 (GRCm39)	D5454V	possibly damaging	Het
Ube2f	A	G	1: 91,181,935 (GRCm39)		probably null	Het
Ubr7	T	C	12: 102,724,342 (GRCm39)	S19P	probably damaging	Het
Vav3	T	C	3: 109,428,782 (GRCm39)	V371A	probably damaging	Het
Vmn2r28	A	G	7: 5,483,806 (GRCm39)	V798A	probably damaging	Het
Vmn2r95	T	G	17: 18,664,181 (GRCm39)	C467G	probably damaging	Het
Vmn2r95	G	T	17: 18,664,182 (GRCm39)	C467F	probably damaging	Het
Vps13b	A	G	15: 35,905,455 (GRCm39)	D3325G	probably damaging	Het
Wnk2	T	C	13: 49,220,834 (GRCm39)	T1158A	probably damaging	Het
Zfp616	T	A	11: 73,976,276 (GRCm39)	N848K	possibly damaging	Het

Other mutations in Cpne9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Cpne9	APN	6	113,269,983 (GRCm39)	missense	possibly damaging	0.54
IGL02318:Cpne9	APN	6	113,270,699 (GRCm39)	missense	possibly damaging	0.74
IGL02800:Cpne9	APN	6	113,279,034 (GRCm39)	missense	probably benign	0.40
IGL02819:Cpne9	APN	6	113,277,624 (GRCm39)	missense	probably damaging	0.99
IGL03111:Cpne9	APN	6	113,277,571 (GRCm39)	missense	possibly damaging	0.79
measured	UTSW	6	113,266,974 (GRCm39)	missense	probably damaging	0.98
prudence	UTSW	6	113,261,406 (GRCm39)	missense	possibly damaging	0.69
PIT4366001:Cpne9	UTSW	6	113,271,707 (GRCm39)	missense	probably damaging	1.00
R0145:Cpne9	UTSW	6	113,277,562 (GRCm39)	missense	probably damaging	0.97
R0319:Cpne9	UTSW	6	113,271,654 (GRCm39)	missense	probably damaging	1.00
R0514:Cpne9	UTSW	6	113,266,974 (GRCm39)	missense	probably damaging	0.98
R0586:Cpne9	UTSW	6	113,272,024 (GRCm39)	missense	probably damaging	0.96
R0594:Cpne9	UTSW	6	113,267,361 (GRCm39)	splice site	probably benign
R1464:Cpne9	UTSW	6	113,271,698 (GRCm39)	missense	probably damaging	1.00
R1464:Cpne9	UTSW	6	113,271,698 (GRCm39)	missense	probably damaging	1.00
R4184:Cpne9	UTSW	6	113,259,418 (GRCm39)	unclassified	probably benign
R4243:Cpne9	UTSW	6	113,259,984 (GRCm39)	unclassified	probably benign
R4256:Cpne9	UTSW	6	113,259,984 (GRCm39)	unclassified	probably benign
R4258:Cpne9	UTSW	6	113,259,984 (GRCm39)	unclassified	probably benign
R4412:Cpne9	UTSW	6	113,266,962 (GRCm39)	missense	possibly damaging	0.78
R4690:Cpne9	UTSW	6	113,279,016 (GRCm39)	missense	probably damaging	1.00
R5062:Cpne9	UTSW	6	113,281,449 (GRCm39)	missense	probably damaging	0.99
R5249:Cpne9	UTSW	6	113,270,034 (GRCm39)	splice site	probably benign
R5437:Cpne9	UTSW	6	113,281,591 (GRCm39)	unclassified	probably benign
R5523:Cpne9	UTSW	6	113,267,192 (GRCm39)	missense	probably damaging	1.00
R5979:Cpne9	UTSW	6	113,270,710 (GRCm39)	missense	probably benign	0.44
R6207:Cpne9	UTSW	6	113,271,734 (GRCm39)	missense	possibly damaging	0.88
R6989:Cpne9	UTSW	6	113,277,544 (GRCm39)	missense	possibly damaging	0.95
R7376:Cpne9	UTSW	6	113,266,974 (GRCm39)	missense	probably damaging	0.98
R7524:Cpne9	UTSW	6	113,279,025 (GRCm39)	missense	probably damaging	1.00
R7631:Cpne9	UTSW	6	113,279,079 (GRCm39)	missense	possibly damaging	0.72
R7689:Cpne9	UTSW	6	113,266,965 (GRCm39)	missense	probably damaging	1.00
R7757:Cpne9	UTSW	6	113,261,406 (GRCm39)	missense	possibly damaging	0.69
R8134:Cpne9	UTSW	6	113,272,003 (GRCm39)	missense	probably benign	0.16
R8418:Cpne9	UTSW	6	113,260,398 (GRCm39)	missense	possibly damaging	0.95
R8810:Cpne9	UTSW	6	113,281,506 (GRCm39)	missense	probably damaging	0.99
R8833:Cpne9	UTSW	6	113,281,473 (GRCm39)	missense	probably damaging	1.00
R9174:Cpne9	UTSW	6	113,279,032 (GRCm39)	missense	probably damaging	1.00
R9503:Cpne9	UTSW	6	113,271,732 (GRCm39)	missense	possibly damaging	0.67
R9520:Cpne9	UTSW	6	113,281,413 (GRCm39)	missense	probably damaging	1.00
R9738:Cpne9	UTSW	6	113,267,401 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACTGTGGAATGCGAGTGTC -3'
(R):5'- TGACCCCTCAAAAGAACTGTTC -3'

Sequencing Primer
(F):5'- AATGCGAGTGTCAGGTCTCC -3'
(R):5'- GTGATGCAGTATTGTAACTCCAGC -3'

Posted On

2018-09-12