Mutagenetix > Incidental Mutation

Incidental Mutation 'R4412:Cpne9'

327962

Institutional Source

Beutler Lab

Gene Symbol

Cpne9

Ensembl Gene

ENSMUSG00000030270

Gene Name

copine family member IX

Synonyms

MMRRC Submission

041135-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R4412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113282307-113305627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113290001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 132 (K132E)

Ref Sequence

ENSEMBL: ENSMUSP00000044416 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041203
AA Change: K132E

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: K132E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204050

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,577,453		probably benign	Het
Adprhl1	T	C	8: 13,246,114	K144E	probably benign	Het
Alpl	A	G	4: 137,758,628	I2T	possibly damaging	Het
Chdh	G	T	14: 30,031,715	G194C	probably damaging	Het
Cp	A	T	3: 19,966,353	D170V	probably damaging	Het
Cyp2b9	T	G	7: 26,198,443	L224R	probably damaging	Het
Dmxl1	A	G	18: 49,848,761	N153S	probably benign	Het
Dnah17	T	C	11: 118,073,683	Y2423C	probably damaging	Het
Dnajc14	G	T	10: 128,806,205		probably benign	Het
Eipr1	A	T	12: 28,859,373	D213V	probably damaging	Het
Fat1	T	C	8: 45,023,599	V1894A	probably damaging	Het
Flrt2	G	A	12: 95,780,273	V462I	probably benign	Het
Gigyf2	A	G	1: 87,436,860	E954G	probably damaging	Het
Glis1	A	G	4: 107,634,718	H593R	probably damaging	Het
Gpr21	C	G	2: 37,517,432		probably benign	Het
Gsdmc3	A	G	15: 63,866,796	M139T	probably benign	Het
Hydin	C	T	8: 110,415,736	T749I	probably damaging	Het
Ilf3	C	T	9: 21,399,560	P620S	possibly damaging	Het
Khdc3	A	G	9: 73,102,874	T71A	possibly damaging	Het
Ms4a12	T	C	19: 11,230,443	N33S	probably benign	Het
Nisch	A	G	14: 31,186,658		probably benign	Het
Npr2	G	A	4: 43,644,150	C593Y	probably damaging	Het
Npr3	G	C	15: 11,905,149	T164R	probably benign	Het
Olfr1231	A	G	2: 89,303,340	I84T	probably benign	Het
Palld	A	G	8: 61,687,372	Y534H	probably damaging	Het
Pcdhb10	TC	T	18: 37,414,141		probably null	Het
Plekhg3	A	C	12: 76,577,764	T1127P	probably damaging	Het
Podnl1	A	T	8: 84,130,665	H301L	probably benign	Het
Ripk2	A	G	4: 16,124,511	V399A	probably benign	Het
Rpp30	T	A	19: 36,100,255	N172K	possibly damaging	Het
Sin3b	C	T	8: 72,739,779	A291V	probably benign	Het
Slc12a6	A	T	2: 112,335,888	Q204L	possibly damaging	Het
Snx9	C	T	17: 5,908,394	T249M	probably damaging	Het
Sohlh2	C	A	3: 55,197,002	T264K	probably damaging	Het
Srrm2	A	G	17: 23,810,468		probably benign	Het
Syne2	T	A	12: 76,106,060	H6674Q	probably benign	Het
Tyw1	T	A	5: 130,335,232		probably null	Het
Vmn1r115	C	T	7: 20,844,282	R235K	probably benign	Het
Vmn2r50	A	C	7: 10,050,308	F80V	probably damaging	Het
Yme1l1	G	A	2: 23,175,187	R236H	probably damaging	Het

Other mutations in Cpne9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Cpne9	APN	6	113293022	missense	possibly damaging	0.54
IGL02318:Cpne9	APN	6	113293738	missense	possibly damaging	0.74
IGL02800:Cpne9	APN	6	113302073	missense	probably benign	0.40
IGL02819:Cpne9	APN	6	113300663	missense	probably damaging	0.99
IGL03111:Cpne9	APN	6	113300610	missense	possibly damaging	0.79
measured	UTSW	6	113290013	missense	probably damaging	0.98
prudence	UTSW	6	113284445	missense	possibly damaging	0.69
PIT4366001:Cpne9	UTSW	6	113294746	missense	probably damaging	1.00
R0145:Cpne9	UTSW	6	113300601	missense	probably damaging	0.97
R0319:Cpne9	UTSW	6	113294693	missense	probably damaging	1.00
R0514:Cpne9	UTSW	6	113290013	missense	probably damaging	0.98
R0586:Cpne9	UTSW	6	113295063	missense	probably damaging	0.96
R0594:Cpne9	UTSW	6	113290400	splice site	probably benign
R1464:Cpne9	UTSW	6	113294737	missense	probably damaging	1.00
R1464:Cpne9	UTSW	6	113294737	missense	probably damaging	1.00
R4184:Cpne9	UTSW	6	113282457	unclassified	probably benign
R4243:Cpne9	UTSW	6	113283023	unclassified	probably benign
R4256:Cpne9	UTSW	6	113283023	unclassified	probably benign
R4258:Cpne9	UTSW	6	113283023	unclassified	probably benign
R4690:Cpne9	UTSW	6	113302055	missense	probably damaging	1.00
R5062:Cpne9	UTSW	6	113304488	missense	probably damaging	0.99
R5249:Cpne9	UTSW	6	113293073	splice site	probably benign
R5437:Cpne9	UTSW	6	113304630	unclassified	probably benign
R5523:Cpne9	UTSW	6	113290231	missense	probably damaging	1.00
R5979:Cpne9	UTSW	6	113293749	missense	probably benign	0.44
R6207:Cpne9	UTSW	6	113294773	missense	possibly damaging	0.88
R6849:Cpne9	UTSW	6	113302118	missense	probably damaging	0.98
R6989:Cpne9	UTSW	6	113300583	missense	possibly damaging	0.95
R7376:Cpne9	UTSW	6	113290013	missense	probably damaging	0.98
R7524:Cpne9	UTSW	6	113302064	missense	probably damaging	1.00
R7631:Cpne9	UTSW	6	113302118	missense	possibly damaging	0.72
R7689:Cpne9	UTSW	6	113290004	missense	probably damaging	1.00
R7757:Cpne9	UTSW	6	113284445	missense	possibly damaging	0.69
R8134:Cpne9	UTSW	6	113295042	missense	probably benign	0.16
R8418:Cpne9	UTSW	6	113283437	missense	possibly damaging	0.95
R8810:Cpne9	UTSW	6	113304545	missense	probably damaging	0.99
R8833:Cpne9	UTSW	6	113304512	missense	probably damaging	1.00
R9174:Cpne9	UTSW	6	113302071	missense	probably damaging	1.00
R9503:Cpne9	UTSW	6	113294771	missense	possibly damaging	0.67
R9520:Cpne9	UTSW	6	113304452	missense	probably damaging	1.00
R9738:Cpne9	UTSW	6	113290440	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCTTTTCTCACCAAGAGCC -3'
(R):5'- AGGAAAGGGTCTGACTTCCC -3'

Sequencing Primer
(F):5'- GCCTCTCCGAATAGAAGTGG -3'
(R):5'- TTTGCACACAGCTGCATGG -3'

Posted On

2015-07-07