Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02318:Cpne9'

288101

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpne9

Ensembl Gene

ENSMUSG00000030270

Gene Name

copine family member IX

Synonyms

A730016F12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

IGL02318

Quality Score

Status

Chromosome

Chromosomal Location

113259244-113282532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113270699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 305 (D305G)

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: D305G

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: D305G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	A	G	5: 138,561,838 (GRCm39)	F116S	probably damaging	Het
Abhd18	G	A	3: 40,884,662 (GRCm39)		probably null	Het
Akr1c6	G	T	13: 4,488,496 (GRCm39)	C34F	probably benign	Het
Ankef1	T	A	2: 136,386,695 (GRCm39)	I180N	possibly damaging	Het
Ap1b1	G	A	11: 4,969,294 (GRCm39)	V217I	probably benign	Het
Arhgap27	T	C	11: 103,223,989 (GRCm39)	Q608R	probably benign	Het
Arhgap32	A	G	9: 32,170,627 (GRCm39)	T1136A	probably benign	Het
Ascc3	T	A	10: 50,604,250 (GRCm39)	Y1323*	probably null	Het
Bsx	A	C	9: 40,785,517 (GRCm39)	Q15P	probably benign	Het
Cdh20	A	G	1: 104,881,764 (GRCm39)	I410V	probably null	Het
Cfhr4	T	A	1: 139,708,835 (GRCm39)	E24D	probably benign	Het
Col20a1	A	G	2: 180,648,952 (GRCm39)	D945G	probably damaging	Het
Cox20	A	G	1: 178,150,043 (GRCm39)		probably null	Het
Cplane1	A	G	15: 8,204,509 (GRCm39)	K96E	probably damaging	Het
Cyp2d12	A	G	15: 82,439,444 (GRCm39)	T33A	probably benign	Het
Dvl3	A	G	16: 20,342,493 (GRCm39)	R149G	possibly damaging	Het
Dysf	A	G	6: 84,163,446 (GRCm39)	I1624V	possibly damaging	Het
Echs1	A	T	7: 139,691,623 (GRCm39)	L167Q	probably damaging	Het
Ect2	A	T	3: 27,192,868 (GRCm39)	N358K	probably benign	Het
Eml4	A	G	17: 83,748,795 (GRCm39)	I230V	probably benign	Het
Fut10	A	G	8: 31,726,286 (GRCm39)	Y347C	probably damaging	Het
Gfm2	C	A	13: 97,299,483 (GRCm39)	N401K	probably damaging	Het
Gm4795	C	T	10: 44,882,735 (GRCm39)		noncoding transcript	Het
Gm5592	C	A	7: 40,936,212 (GRCm39)	T238N	probably benign	Het
Gm9892	T	C	8: 52,649,260 (GRCm39)		noncoding transcript	Het
Greb1l	G	T	18: 10,469,388 (GRCm39)	M134I	possibly damaging	Het
Grk3	A	G	5: 113,085,669 (GRCm39)	Y314H	probably damaging	Het
Hrh2	T	C	13: 54,368,669 (GRCm39)	I215T	probably damaging	Het
Ilkap	A	G	1: 91,312,960 (GRCm39)		probably null	Het
Inpp4a	T	C	1: 37,407,384 (GRCm39)	Y233H	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Lmo7	C	T	14: 102,137,502 (GRCm39)		probably benign	Het
Luc7l3	C	T	11: 94,183,819 (GRCm39)	R440Q	probably benign	Het
Mis18bp1	A	C	12: 65,205,515 (GRCm39)	I219S	probably benign	Het
Myo9b	G	A	8: 71,806,768 (GRCm39)	E1581K	probably damaging	Het
Nfs1	T	A	2: 155,966,191 (GRCm39)	Q458L	probably damaging	Het
Numb	A	T	12: 83,878,692 (GRCm39)		probably null	Het
Nxf1	G	A	19: 8,741,514 (GRCm39)		probably null	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or52z1	A	G	7: 103,437,475 (GRCm39)	V3A	probably benign	Het
Pacc1	A	G	1: 191,080,605 (GRCm39)	E275G	possibly damaging	Het
Pde2a	A	T	7: 101,152,550 (GRCm39)	Y371F	possibly damaging	Het
Phlpp2	G	T	8: 110,666,505 (GRCm39)	L1011F	probably benign	Het
Potefam3e	T	C	8: 19,797,815 (GRCm39)		probably null	Het
Prss27	G	T	17: 24,264,571 (GRCm39)	V245L	probably benign	Het
Rbm7	T	C	9: 48,405,411 (GRCm39)	N56S	probably damaging	Het
Rftn1	T	C	17: 50,343,998 (GRCm39)	I97V	possibly damaging	Het
Ric3	T	C	7: 108,647,287 (GRCm39)	T178A	probably damaging	Het
Rock1	A	G	18: 10,104,323 (GRCm39)		probably benign	Het
Sall2	T	C	14: 52,553,022 (GRCm39)	T56A	probably damaging	Het
Sgk1	T	C	10: 21,871,440 (GRCm39)	S60P	probably damaging	Het
Smarcad1	G	A	6: 65,050,223 (GRCm39)	A281T	probably damaging	Het
Spta1	A	G	1: 174,002,029 (GRCm39)	H53R	possibly damaging	Het
Thbs4	T	C	13: 92,900,092 (GRCm39)	D468G	probably damaging	Het
Tmem108	A	T	9: 103,376,981 (GRCm39)	V156E	probably benign	Het
Tnfaip3	T	G	10: 18,880,215 (GRCm39)	R617S	probably benign	Het
Traf3	A	G	12: 111,204,031 (GRCm39)	M7V	probably benign	Het
Ubr3	T	A	2: 69,809,741 (GRCm39)	I1237N	probably damaging	Het
Vmn2r23	T	C	6: 123,718,795 (GRCm39)	V716A	probably benign	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
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
R6849:Cpne9	UTSW	6	113,279,079 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2015-04-16