Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01871:Cpne4'

178720

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpne4

Ensembl Gene

ENSMUSG00000032564

Gene Name

copine IV

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL01871

Quality Score

Status

Chromosome

Chromosomal Location

104547286-105034544 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 104925757 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 200 (M200R)

Ref Sequence

ENSEMBL: ENSMUSP00000076432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057742] [ENSMUST00000077190] [ENSMUST00000213120] [ENSMUST00000213452]

Predicted Effect

probably benign
Transcript: ENSMUST00000057742
AA Change: M200R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: M200R

Domain	Start	End	E-Value	Type
C2	24	130	4.29e-6	SMART
C2	144	261	4.22e-5	SMART
low complexity region	269	279	N/A	INTRINSIC
VWA	305	507	2.61e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077190
AA Change: M200R

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: M200R

Domain	Start	End	E-Value	Type
C2	24	130	4.29e-6	SMART
C2	144	275	1.94e1	SMART
VWA	223	425	9.73e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213120
AA Change: M200R

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000213452

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,472,394		probably null	Het
Aqp7	G	A	4: 41,045,321	R20*	probably null	Het
Asxl2	G	T	12: 3,502,112	V1285L	probably benign	Het
Bdp1	A	T	13: 100,066,053	S688T	probably benign	Het
Cc2d2a	A	T	5: 43,688,969	I357F	probably damaging	Het
Clasp1	A	T	1: 118,570,889	I884F	probably damaging	Het
Cyp2d10	T	A	15: 82,403,885	D180V	probably damaging	Het
Dicer1	A	T	12: 104,704,180	V1042D	probably damaging	Het
Dlc1	G	A	8: 36,850,180	T447I	probably damaging	Het
Efl1	T	C	7: 82,763,319	M972T	possibly damaging	Het
Erbin	A	G	13: 103,834,766	S781P	probably damaging	Het
Fam46b	A	G	4: 133,486,309	I164V	possibly damaging	Het
Galnt4	G	A	10: 99,109,241	G276D	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gmppa	A	G	1: 75,437,017	I41V	probably damaging	Het
Golga1	C	T	2: 39,050,198		probably benign	Het
H2-Ob	G	T	17: 34,242,545	W86L	probably damaging	Het
Hnrnpr	G	A	4: 136,339,574	R482H	unknown	Het
L2hgdh	T	C	12: 69,722,095	E81G	probably damaging	Het
Mre11a	T	C	9: 14,811,897	V389A	possibly damaging	Het
Mxra8	A	G	4: 155,842,801	T372A	probably benign	Het
Ncapg	T	A	5: 45,688,581	S593R	probably benign	Het
Ndufaf1	C	T	2: 119,658,287	W250*	probably null	Het
Neb	T	C	2: 52,153,069	E6783G	probably damaging	Het
Nmt2	T	C	2: 3,312,674	Y175H	probably damaging	Het
Olfml2b	T	C	1: 170,662,355		probably benign	Het
Pitpnm3	T	A	11: 72,056,138	M812L	probably damaging	Het
Pou2f3	A	G	9: 43,134,473		probably benign	Het
Prkdc	A	G	16: 15,783,087	T2871A	probably benign	Het
Rapgef4	A	G	2: 72,198,360	T392A	possibly damaging	Het
Rhov	G	T	2: 119,270,738	Q71K	probably benign	Het
Slc22a15	T	C	3: 101,860,794		probably benign	Het
Spaca1	T	A	4: 34,040,894	N22Y	probably damaging	Het
Stmnd1	A	G	13: 46,289,713	E107G	probably damaging	Het
Timm22	T	C	11: 76,407,437	V78A	probably damaging	Het
Usp47	T	C	7: 112,077,786		probably benign	Het
Utp4	A	C	8: 106,912,317	K419T	probably benign	Het
Zfp410	T	C	12: 84,325,791		probably null	Het

Other mutations in Cpne4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Cpne4	APN	9	104901511	missense	probably damaging	1.00
IGL02097:Cpne4	APN	9	104686502	missense	probably damaging	1.00
IGL02698:Cpne4	APN	9	105032785	missense	probably damaging	1.00
IGL02933:Cpne4	APN	9	105019767	missense	possibly damaging	0.64
R0471:Cpne4	UTSW	9	105022282	splice site	probably null
R0528:Cpne4	UTSW	9	104686441	missense	probably damaging	0.99
R0698:Cpne4	UTSW	9	104925795	missense	probably damaging	1.00
R1025:Cpne4	UTSW	9	104993858	missense	possibly damaging	0.64
R1054:Cpne4	UTSW	9	105022401	missense	probably benign	0.01
R1300:Cpne4	UTSW	9	104993134	missense	probably damaging	1.00
R1422:Cpne4	UTSW	9	104900285	missense	probably damaging	0.98
R1439:Cpne4	UTSW	9	104989632	missense	probably damaging	0.99
R1634:Cpne4	UTSW	9	104989579	missense	possibly damaging	0.94
R1777:Cpne4	UTSW	9	104872688	missense	probably damaging	1.00
R2992:Cpne4	UTSW	9	105022365	missense	probably damaging	1.00
R4094:Cpne4	UTSW	9	104686535	missense	probably damaging	1.00
R4729:Cpne4	UTSW	9	104922556	missense	probably damaging	0.96
R4943:Cpne4	UTSW	9	105019773	missense	probably damaging	1.00
R5119:Cpne4	UTSW	9	104901521	splice site	probably null
R5787:Cpne4	UTSW	9	105022401	missense	probably benign	0.01
R5839:Cpne4	UTSW	9	104925828	missense	probably damaging	1.00
R5876:Cpne4	UTSW	9	104925770	missense	probably damaging	0.98
R7386:Cpne4	UTSW	9	104872740	missense	possibly damaging	0.82
R7849:Cpne4	UTSW	9	104686519	missense	probably damaging	0.99
R7887:Cpne4	UTSW	9	105032791	missense	probably damaging	1.00

Posted On

2014-05-07