Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01325:Cpne3'

74219

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: 0.143) question?

Stock #

IGL01325

Quality Score

Status

Chromosome

Chromosomal Location

19519254-19570108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19535229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 268 (S268G)

Ref Sequence

ENSEMBL: ENSMUSP00000029885 (fasta)

Gene Model

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

AlphaFold

Q8BT60

Predicted Effect

probably benign
Transcript: ENSMUST00000029885
AA Change: S268G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: S268G

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,001,347 (GRCm39)	T127A	probably damaging	Het
Acrv1	T	A	9: 36,609,810 (GRCm39)	M227K	probably benign	Het
Adam22	T	C	5: 8,177,333 (GRCm39)	N592S	probably benign	Het
Adamts15	T	A	9: 30,832,984 (GRCm39)	I184F	possibly damaging	Het
Adcy1	T	C	11: 7,014,102 (GRCm39)	V168A	possibly damaging	Het
Arl6ip5	T	C	6: 97,209,501 (GRCm39)	F179L	probably benign	Het
Asxl2	G	T	12: 3,477,172 (GRCm39)	R6L	probably damaging	Het
Btaf1	T	A	19: 36,982,049 (GRCm39)		probably benign	Het
Ccdc136	T	C	6: 29,412,949 (GRCm39)	F445L	probably benign	Het
Crtc3	C	T	7: 80,327,116 (GRCm39)	R70Q	probably damaging	Het
Fam169a	C	A	13: 97,259,207 (GRCm39)	A421E	probably benign	Het
Fhod1	A	T	8: 106,058,281 (GRCm39)	M825K	probably benign	Het
Gjb2	T	C	14: 57,337,678 (GRCm39)	T177A	probably benign	Het
Gm6576	A	G	15: 27,025,970 (GRCm39)		noncoding transcript	Het
Herpud2	A	G	9: 25,025,207 (GRCm39)	V175A	probably benign	Het
Hmgxb3	T	C	18: 61,267,078 (GRCm39)	D1052G	probably damaging	Het
Itpr1	T	A	6: 108,358,169 (GRCm39)	F578L	probably benign	Het
Kdm7a	T	G	6: 39,135,243 (GRCm39)		probably benign	Het
Krt76	A	T	15: 101,793,323 (GRCm39)	S572T	unknown	Het
Lrrcc1	T	C	3: 14,601,601 (GRCm39)		probably null	Het
Marchf9	A	C	10: 126,893,459 (GRCm39)	V183G	probably damaging	Het
Mrtfb	T	C	16: 13,219,088 (GRCm39)	V578A	probably damaging	Het
Ndufaf6	A	T	4: 11,070,251 (GRCm39)	D123E	probably benign	Het
Nhlh2	T	G	3: 101,920,342 (GRCm39)	Y125D	probably damaging	Het
Nol4l	A	G	2: 153,278,271 (GRCm39)		probably benign	Het
Npas1	C	T	7: 16,197,247 (GRCm39)	G206D	probably benign	Het
Or52h9	T	C	7: 104,202,896 (GRCm39)	F257L	probably damaging	Het
Or5ak24	C	A	2: 85,260,639 (GRCm39)	C178F	possibly damaging	Het
Pcdhb4	T	A	18: 37,442,676 (GRCm39)	V662E	probably damaging	Het
Plxna3	G	A	X: 73,379,400 (GRCm39)	G758S	probably damaging	Het
Prdm15	T	A	16: 97,607,717 (GRCm39)	N709Y	probably damaging	Het
Pygo2	C	T	3: 89,339,753 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,312,120 (GRCm39)	S947T	probably damaging	Het
Rasgrp1	T	A	2: 117,129,010 (GRCm39)	H203L	probably damaging	Het
Rbbp6	G	A	7: 122,587,841 (GRCm39)	G270R	probably damaging	Het
Rcl1	A	G	19: 29,098,662 (GRCm39)		probably null	Het
Rpl23a-ps1	T	C	1: 46,020,793 (GRCm39)		noncoding transcript	Het
Serpinb7	T	G	1: 107,363,110 (GRCm39)	H91Q	probably damaging	Het
Shd	C	T	17: 56,279,839 (GRCm39)	P111S	possibly damaging	Het
Slc35e1	G	T	8: 73,237,602 (GRCm39)		probably benign	Het
Srgap3	C	T	6: 112,752,647 (GRCm39)	R279H	probably damaging	Het
Sstr4	G	A	2: 148,237,472 (GRCm39)	E28K	probably benign	Het
Stip1	T	C	19: 6,998,464 (GRCm39)		probably benign	Het
Syne2	A	G	12: 75,973,288 (GRCm39)	E1097G	probably benign	Het
Tbcd	T	A	11: 121,431,819 (GRCm39)	V489E	probably damaging	Het
Tnks2	T	A	19: 36,849,033 (GRCm39)	S516R	probably benign	Het
Trmt44	T	A	5: 35,726,147 (GRCm39)	R343S	possibly damaging	Het
Trps1	A	G	15: 50,710,210 (GRCm39)	S47P	probably benign	Het
Ubr3	A	C	2: 69,747,441 (GRCm39)	K235Q	possibly damaging	Het
Uckl1	G	A	2: 181,216,754 (GRCm39)	Q48*	probably null	Het
Vat1	T	C	11: 101,356,541 (GRCm39)	D140G	probably benign	Het
Vmn2r80	A	G	10: 79,030,081 (GRCm39)	T636A	possibly damaging	Het
Zfp423	A	T	8: 88,508,239 (GRCm39)		probably null	Het
Zfp667	C	A	7: 6,293,545 (GRCm39)	T15N	probably 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
IGL01467:Cpne3	APN	4	19,553,737 (GRCm39)	missense	probably benign
IGL02043:Cpne3	APN	4	19,543,340 (GRCm39)	splice site	probably null
IGL02992:Cpne3	APN	4	19,532,486 (GRCm39)	missense	probably benign
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

2013-10-07