Mutagenetix > Incidental Mutation

Incidental Mutation 'R5062:Cpne9'

386680

Institutional Source

Beutler Lab

Gene Symbol

Cpne9

Ensembl Gene

ENSMUSG00000030270

Gene Name

copine family member IX

Synonyms

MMRRC Submission

042652-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R5062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113282307-113305627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113304488 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 510 (M510K)

Ref Sequence

ENSEMBL: ENSMUSP00000044416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041203] [ENSMUST00000113117] [ENSMUST00000113119] [ENSMUST00000113121] [ENSMUST00000113122] [ENSMUST00000130191] [ENSMUST00000203577] [ENSMUST00000204198] [ENSMUST00000204626]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041203
AA Change: M510K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: M510K

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: ENSMUST00000113117

SMART Domains

Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	105	254	1e-35	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	762	773	N/A	INTRINSIC
low complexity region	855	869	N/A	INTRINSIC
low complexity region	901	911	N/A	INTRINSIC
low complexity region	940	964	N/A	INTRINSIC
low complexity region	993	1019	N/A	INTRINSIC
low complexity region	1078	1090	N/A	INTRINSIC
PWWP	1115	1198	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113119

SMART Domains

Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	8.5e-39	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	856	870	N/A	INTRINSIC
low complexity region	902	912	N/A	INTRINSIC
low complexity region	941	965	N/A	INTRINSIC
low complexity region	994	1020	N/A	INTRINSIC
low complexity region	1079	1091	N/A	INTRINSIC
PWWP	1116	1199	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113121

SMART Domains

Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	105	254	5.5e-36	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	856	870	N/A	INTRINSIC
low complexity region	902	912	N/A	INTRINSIC
low complexity region	941	965	N/A	INTRINSIC
low complexity region	994	1020	N/A	INTRINSIC
PWWP	1082	1165	4.1e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113122

SMART Domains

Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	2.63e0	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	105	254	5.5e-36	PFAM
PHD	274	320	7.63e-10	SMART
PHD	384	447	1.05e-7	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1.58e-37	SMART
low complexity region	762	773	N/A	INTRINSIC
low complexity region	855	869	N/A	INTRINSIC
low complexity region	901	911	N/A	INTRINSIC
low complexity region	940	964	N/A	INTRINSIC
low complexity region	993	1019	N/A	INTRINSIC
PWWP	1081	1164	4.1e-42	SMART

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: ENSMUST00000156734

Predicted Effect

probably benign
Transcript: ENSMUST00000203577

SMART Domains

Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	1.2e-2	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	5.1e-36	PFAM
PHD	274	320	4.9e-12	SMART
PHD	384	447	6.8e-10	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	739	1.3e-34	SMART
low complexity region	768	779	N/A	INTRINSIC
low complexity region	861	875	N/A	INTRINSIC
low complexity region	907	917	N/A	INTRINSIC
low complexity region	946	970	N/A	INTRINSIC
low complexity region	999	1025	N/A	INTRINSIC
low complexity region	1084	1096	N/A	INTRINSIC
PWWP	1121	1204	2.6e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204198

SMART Domains

Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	1.2e-2	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	4.4e-36	PFAM
PHD	274	320	4.9e-12	SMART
PHD	384	447	6.8e-10	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	733	1e-39	SMART
low complexity region	856	870	N/A	INTRINSIC
low complexity region	899	925	N/A	INTRINSIC
PWWP	987	1070	2.6e-44	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203569

Predicted Effect

probably benign
Transcript: ENSMUST00000204626

SMART Domains

Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632

Domain	Start	End	E-Value	Type
ZnF_C2H2	21	47	1.2e-2	SMART
low complexity region	74	85	N/A	INTRINSIC
Pfam:EPL1	106	254	4.9e-36	PFAM
PHD	274	320	4.9e-12	SMART
PHD	384	447	6.8e-10	SMART
low complexity region	461	498	N/A	INTRINSIC
BROMO	625	739	1.3e-34	SMART
low complexity region	768	779	N/A	INTRINSIC
low complexity region	861	875	N/A	INTRINSIC
low complexity region	907	917	N/A	INTRINSIC
low complexity region	946	970	N/A	INTRINSIC
low complexity region	999	1025	N/A	INTRINSIC
PWWP	1087	1170	2.6e-44	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,177,066	I1593N	probably benign	Het
Akr1b10	G	T	6: 34,392,106	K173N	probably damaging	Het
Artn	A	T	4: 117,927,676	L3Q	probably damaging	Het
Asxl3	T	A	18: 22,522,718	S1262T	possibly damaging	Het
Atp6v0a4	A	T	6: 38,074,183	M420K	probably benign	Het
Bcam	T	A	7: 19,760,101	T422S	possibly damaging	Het
Casp2	C	T	6: 42,269,272		probably benign	Het
Ccdc137	A	G	11: 120,462,515		probably benign	Het
Cd177	C	A	7: 24,744,316	A786S	probably benign	Het
Cdca4	T	C	12: 112,821,863	N82D	probably benign	Het
Clu	A	C	14: 65,979,728	T337P	probably damaging	Het
Col6a3	A	C	1: 90,779,352	I2013S	unknown	Het
Cyp3a13	A	C	5: 137,898,899	N384K	possibly damaging	Het
Fam186a	A	C	15: 99,944,646	I1239S	possibly damaging	Het
Fryl	T	C	5: 73,075,893	E413G	possibly damaging	Het
Fscn2	A	C	11: 120,366,749	Y312S	probably damaging	Het
Fshr	A	T	17: 88,986,046	C401*	probably null	Het
Glyat	A	C	19: 12,650,263	Q74P	probably damaging	Het
Gm5724	A	C	6: 141,767,454	M67R	possibly damaging	Het
Gm6158	A	T	14: 24,070,090		noncoding transcript	Het
Grm7	A	G	6: 110,646,136	N90S	probably damaging	Het
Hectd1	A	T	12: 51,744,879	C2536S	probably damaging	Het
Herc3	C	T	6: 58,855,760	Q137*	probably null	Het
Kctd3	A	C	1: 188,995,693		probably benign	Het
Klhl30	A	G	1: 91,355,578	T301A	probably benign	Het
Klra9	T	C	6: 130,179,109	K228E	possibly damaging	Het
Lamc3	A	T	2: 31,905,667	T355S	possibly damaging	Het
Lcmt1	A	C	7: 123,410,830		probably null	Het
Limch1	C	T	5: 66,969,235	P60S	probably damaging	Het
Lrfn2	A	G	17: 49,070,500	D203G	probably damaging	Het
Mc5r	T	C	18: 68,339,281	L237P	probably damaging	Het
Mknk2	G	A	10: 80,671,769	R58W	probably damaging	Het
Mrgpra2b	T	C	7: 47,502,928		probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Nae1	A	T	8: 104,516,702	C395S	possibly damaging	Het
Ncoa1	A	G	12: 4,259,333	M1321T	probably damaging	Het
Neb	A	C	2: 52,280,501	F1720V	possibly damaging	Het
Nectin2	C	T	7: 19,738,273	V64I	probably benign	Het
Nisch	T	A	14: 31,172,440	T1145S	probably damaging	Het
Nlrp5	A	T	7: 23,435,910	R1009*	probably null	Het
Olfr103	A	T	17: 37,336,931	H100Q	probably damaging	Het
Olfr727	T	A	14: 50,127,437	Y287N	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pak1ip1	A	G	13: 41,008,145		probably benign	Het
Pcm1	T	C	8: 41,259,260	V189A	probably damaging	Het
Peak1	G	T	9: 56,260,289	N118K	probably damaging	Het
Phgdh	T	A	3: 98,328,339	I121F	probably damaging	Het
Pi4ka	G	T	16: 17,309,397	A1064E	probably benign	Het
Pkhd1	A	C	1: 20,585,711	C199W	probably benign	Het
Plat	A	G	8: 22,772,311	D117G	probably benign	Het
Ppp2r2b	C	A	18: 42,688,461	V211L	possibly damaging	Het
Ptgs1	A	G	2: 36,237,282	D60G	probably damaging	Het
Ryr2	T	C	13: 11,700,354	E2776G	probably damaging	Het
Sema4c	C	T	1: 36,552,978		probably null	Het
Sharpin	T	C	15: 76,347,611		probably benign	Het
Slamf6	A	G	1: 171,936,533	I164M	possibly damaging	Het
Spef1	A	G	2: 131,173,281	Y46H	probably damaging	Het
Spns1	G	A	7: 126,374,329		probably benign	Het
Supt5	C	T	7: 28,329,015		probably null	Het
Tbx5	T	A	5: 119,836,922	D3E	probably damaging	Het
Thbs1	T	C	2: 118,121,237		probably null	Het
Tmem140	G	A	6: 34,872,962	V138M	probably damaging	Het
Tmem200a	T	A	10: 25,993,915	D152V	probably damaging	Het
Tmem200b	A	G	4: 131,922,537	D256G	probably damaging	Het
Tns1	A	T	1: 73,952,864	L885Q	probably damaging	Het
Umod	G	A	7: 119,472,421	Q366*	probably null	Het
Vsir	A	G	10: 60,364,263	I208V	probably damaging	Het
Zfp646	G	A	7: 127,880,499	R616H	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
R4412:Cpne9	UTSW	6	113290001	missense	possibly damaging	0.78
R4690:Cpne9	UTSW	6	113302055	missense	probably damaging	1.00
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'- GCATTCAGAAGGATGACATTCAAG -3'
(R):5'- TTAACTTCCAGCAGTGGGTAGAC -3'

Sequencing Primer
(F):5'- TACAGTGAAGCTAAAGAGACTCTC -3'
(R):5'- GTAGACAGGTAAGCAGACTGC -3'

Posted On

2016-06-06