Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02992:Cpne3'

406980

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpne3

Ensembl Gene

ENSMUSG00000028228

Gene Name

copine III

Synonyms

5430428M23Rik, CPN3, PRO1071, 5730450C07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

IGL02992

Quality Score

Status

Chromosome

Chromosomal Location

19519254-19570108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19532486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 309 (D309G)

Ref Sequence

ENSEMBL: ENSMUSP00000029885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029885]

AlphaFold

Q8BT60

Predicted Effect

probably benign
Transcript: ENSMUST00000029885
AA Change: D309G

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

SMART Domains

Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: D309G

Domain	Start	End	E-Value	Type
C2	7	114	1.06e-10	SMART
C2	139	245	9.53e-13	SMART
low complexity region	253	262	N/A	INTRINSIC
VWA	289	495	7.54e-18	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encodes a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,935 (GRCm39)	K1164E	probably damaging	Het
Arhgap42	G	A	9: 8,998,249 (GRCm39)		probably benign	Het
Arhgef12	T	C	9: 42,910,373 (GRCm39)	D612G	probably damaging	Het
Daw1	T	C	1: 83,174,934 (GRCm39)		probably benign	Het
Daxx	T	A	17: 34,130,722 (GRCm39)	C246S	probably damaging	Het
Dpp7	T	C	2: 25,244,589 (GRCm39)	D264G	possibly damaging	Het
Dync2h1	T	A	9: 7,137,074 (GRCm39)	H1472L	probably benign	Het
Fastkd2	T	C	1: 63,777,083 (GRCm39)		probably benign	Het
Fcrl2	T	G	3: 87,166,773 (GRCm39)	R73S	probably damaging	Het
Gatb	A	G	3: 85,526,223 (GRCm39)	D367G	probably damaging	Het
Gm20547	T	A	17: 35,076,095 (GRCm39)	E654V	probably damaging	Het
Gm839	T	A	6: 89,189,509 (GRCm39)		noncoding transcript	Het
Gtf2ird2	A	T	5: 134,246,456 (GRCm39)	M905L	possibly damaging	Het
Hoxb2	A	T	11: 96,243,910 (GRCm39)	I174F	probably damaging	Het
Hrh3	A	G	2: 179,742,608 (GRCm39)	V308A	probably benign	Het
Ints9	A	G	14: 65,217,613 (GRCm39)	K47E	probably benign	Het
Irak3	A	T	10: 120,018,566 (GRCm39)	Y61N	probably damaging	Het
Itpr1	A	G	6: 108,358,276 (GRCm39)	E614G	probably damaging	Het
Lgals3	A	T	14: 47,622,982 (GRCm39)	I214L	probably benign	Het
Msh4	G	T	3: 153,577,962 (GRCm39)	T444K	possibly damaging	Het
Myh7b	C	A	2: 155,463,330 (GRCm39)	Q521K	probably damaging	Het
Naip5	T	A	13: 100,359,536 (GRCm39)	I567F	probably damaging	Het
Nf1	A	G	11: 79,325,759 (GRCm39)		probably benign	Het
Nlrc3	C	T	16: 3,771,887 (GRCm39)		probably benign	Het
Nlrc5	A	C	8: 95,233,201 (GRCm39)	E1353A	possibly damaging	Het
Nr1h3	T	A	2: 91,020,911 (GRCm39)	I260F	probably damaging	Het
Pcnx1	G	A	12: 82,010,894 (GRCm39)	R1211Q	probably damaging	Het
Pde10a	A	G	17: 9,168,293 (GRCm39)	K605E	probably damaging	Het
Pdzd2	T	C	15: 12,382,708 (GRCm39)	E1215G	possibly damaging	Het
Pex12	A	G	11: 83,188,753 (GRCm39)	S81P	probably damaging	Het
Pik3c2b	C	A	1: 132,994,718 (GRCm39)	Y227*	probably null	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Prkg2	T	G	5: 99,172,365 (GRCm39)	S117R	probably benign	Het
Prl3d2	A	T	13: 27,311,266 (GRCm39)	E179D	probably benign	Het
Relch	T	A	1: 105,647,189 (GRCm39)	L684M	possibly damaging	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Scn10a	T	C	9: 119,438,626 (GRCm39)	T1748A	possibly damaging	Het
Septin10	T	C	10: 59,028,000 (GRCm39)	N107S	possibly damaging	Het
Smu1	T	A	4: 40,739,550 (GRCm39)	N420I	probably damaging	Het
Sos1	A	G	17: 80,726,445 (GRCm39)	F835L	probably benign	Het
Spg11	T	C	2: 121,888,879 (GRCm39)	D2164G	probably damaging	Het
Svbp	A	G	4: 119,053,127 (GRCm39)	E8G	probably damaging	Het
Tgm3	T	A	2: 129,883,899 (GRCm39)	M519K	probably damaging	Het
Tspan12	A	G	6: 21,799,876 (GRCm39)		probably null	Het
Vps52	T	C	17: 34,177,324 (GRCm39)	V122A	probably damaging	Het
Wipf1	T	C	2: 73,264,427 (GRCm39)	Y458C	probably damaging	Het
Zfp369	T	A	13: 65,442,265 (GRCm39)	D286E	possibly damaging	Het

Other mutations in Cpne3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Cpne3	APN	4	19,543,318 (GRCm39)	missense	probably damaging	1.00
IGL01325:Cpne3	APN	4	19,535,229 (GRCm39)	missense	probably benign	0.00
IGL01467:Cpne3	APN	4	19,553,737 (GRCm39)	missense	probably benign
IGL02043:Cpne3	APN	4	19,543,340 (GRCm39)	splice site	probably null
IGL03330:Cpne3	APN	4	19,553,774 (GRCm39)	missense	possibly damaging	0.63
LCD18:Cpne3	UTSW	4	19,563,382 (GRCm39)	intron	probably benign
R0507:Cpne3	UTSW	4	19,532,544 (GRCm39)	splice site	probably benign
R0652:Cpne3	UTSW	4	19,532,486 (GRCm39)	missense	probably benign
R1499:Cpne3	UTSW	4	19,526,336 (GRCm39)	missense	probably damaging	1.00
R1881:Cpne3	UTSW	4	19,535,266 (GRCm39)	missense	probably benign	0.03
R2007:Cpne3	UTSW	4	19,553,833 (GRCm39)	missense	probably damaging	1.00
R2147:Cpne3	UTSW	4	19,536,562 (GRCm39)	missense	probably benign
R2507:Cpne3	UTSW	4	19,553,871 (GRCm39)	missense	probably damaging	1.00
R4525:Cpne3	UTSW	4	19,523,206 (GRCm39)	missense	probably damaging	1.00
R4880:Cpne3	UTSW	4	19,540,827 (GRCm39)	missense	probably benign
R5219:Cpne3	UTSW	4	19,526,366 (GRCm39)	missense	probably damaging	1.00
R5518:Cpne3	UTSW	4	19,553,779 (GRCm39)	missense	probably benign	0.10
R5883:Cpne3	UTSW	4	19,552,314 (GRCm39)	missense	possibly damaging	0.67
R6850:Cpne3	UTSW	4	19,535,231 (GRCm39)	missense	possibly damaging	0.91
R6979:Cpne3	UTSW	4	19,533,098 (GRCm39)	missense	probably benign	0.01
R7395:Cpne3	UTSW	4	19,528,239 (GRCm39)	missense	probably damaging	0.96
R7948:Cpne3	UTSW	4	19,528,186 (GRCm39)	critical splice donor site	probably null
R8002:Cpne3	UTSW	4	19,528,232 (GRCm39)	missense	probably damaging	0.99
R8056:Cpne3	UTSW	4	19,532,426 (GRCm39)	missense	possibly damaging	0.60
R8099:Cpne3	UTSW	4	19,525,169 (GRCm39)	missense	possibly damaging	0.61
R8431:Cpne3	UTSW	4	19,526,316 (GRCm39)	missense	probably damaging	0.98
R8432:Cpne3	UTSW	4	19,535,227 (GRCm39)	missense	probably benign	0.26
R9029:Cpne3	UTSW	4	19,535,292 (GRCm39)	missense	possibly damaging	0.66
R9039:Cpne3	UTSW	4	19,540,770 (GRCm39)	missense	probably damaging	0.99
R9421:Cpne3	UTSW	4	19,536,561 (GRCm39)	missense	probably benign	0.33
R9425:Cpne3	UTSW	4	19,525,148 (GRCm39)	missense	probably damaging	1.00
R9604:Cpne3	UTSW	4	19,555,477 (GRCm39)	missense	probably benign	0.04

Posted On

2016-08-02