Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02626:Cpne5'

301078

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpne5

Ensembl Gene

ENSMUSG00000024008

Gene Name

copine V

Synonyms

A830083G22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02626

Quality Score

Status

Chromosome

Chromosomal Location

29375495-29456764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29379311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 491 (G491S)

Ref Sequence

ENSEMBL: ENSMUSP00000024805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024805]

AlphaFold

Q8JZW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000024805
AA Change: G491S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024805
Gene: ENSMUSG00000024008
AA Change: G491S

Domain	Start	End	E-Value	Type
C2	23	131	2.09e-9	SMART
C2	161	283	1.88e-11	SMART
low complexity region	290	297	N/A	INTRINSIC
VWA	326	519	1.52e-13	SMART
low complexity region	564	588	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126993

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,810 (GRCm39)	K1236E	probably damaging	Het
Actl7a	A	T	4: 56,744,353 (GRCm39)	E293D	possibly damaging	Het
Adamts2	T	C	11: 50,667,082 (GRCm39)	Y460H	probably damaging	Het
Aoc1	G	A	6: 48,883,044 (GRCm39)	V307I	probably benign	Het
Ar	C	T	X: 97,358,492 (GRCm39)	H756Y	probably damaging	Het
Atg3	C	T	16: 45,004,048 (GRCm39)	R224W	probably benign	Het
Atp5po	G	A	16: 91,483,201 (GRCm39)	P47S	probably damaging	Het
Bicd1	A	G	6: 149,311,054 (GRCm39)	E43G	probably damaging	Het
Ccdc88c	A	G	12: 100,934,059 (GRCm39)		probably benign	Het
Cd33	A	G	7: 43,179,736 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,002,126 (GRCm39)	R292*	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh23	T	C	10: 60,227,580 (GRCm39)	D1167G	probably damaging	Het
Cdk5rap1	A	G	2: 154,207,880 (GRCm39)		probably null	Het
Chd6	A	G	2: 160,881,270 (GRCm39)		probably benign	Het
Chd7	A	T	4: 8,826,519 (GRCm39)	Y961F	probably damaging	Het
Cpe	T	C	8: 65,145,829 (GRCm39)	E52G	probably benign	Het
Csmd3	A	T	15: 47,567,503 (GRCm39)		probably benign	Het
Ctbp2	T	A	7: 132,600,940 (GRCm39)	T608S	probably benign	Het
Cybb	A	G	X: 9,335,439 (GRCm39)		probably null	Het
Daam2	T	C	17: 49,797,282 (GRCm39)	T168A	possibly damaging	Het
Dnah5	G	T	15: 28,307,422 (GRCm39)	V1717F	possibly damaging	Het
Dse	G	A	10: 34,029,158 (GRCm39)	T644I	probably damaging	Het
Dtd2	A	C	12: 52,051,708 (GRCm39)	Y45*	probably null	Het
Fgfr1op2	T	A	6: 146,491,509 (GRCm39)	M124K	probably benign	Het
Flii	T	C	11: 60,610,685 (GRCm39)	D537G	probably benign	Het
Fntb	T	A	12: 76,944,145 (GRCm39)	I217N	probably benign	Het
Foxi1	A	G	11: 34,155,860 (GRCm39)	S257P	probably benign	Het
Fyn	G	A	10: 39,402,798 (GRCm39)	R190H	probably damaging	Het
Gm28557	T	A	13: 67,223,008 (GRCm39)	T8S	probably benign	Het
Gramd1b	T	C	9: 40,209,306 (GRCm39)	K873E	probably damaging	Het
Grb10	T	C	11: 11,895,503 (GRCm39)	T329A	probably benign	Het
Haus5	A	G	7: 30,356,675 (GRCm39)	L477P	probably damaging	Het
Hectd4	A	T	5: 121,491,944 (GRCm39)	E3761V	possibly damaging	Het
Ift172	T	C	5: 31,421,840 (GRCm39)	I930V	probably benign	Het
Itprid1	T	A	6: 55,945,631 (GRCm39)	V784D	probably benign	Het
Izumo2	A	G	7: 44,358,560 (GRCm39)		probably benign	Het
Map4k4	A	G	1: 40,053,257 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,436,123 (GRCm39)	S753G	probably damaging	Het
Mpzl2	C	T	9: 44,955,590 (GRCm39)	T167I	probably damaging	Het
Mta2	T	A	19: 8,926,532 (GRCm39)	I491N	probably damaging	Het
Myo18b	A	T	5: 113,025,951 (GRCm39)	I33N	unknown	Het
Nub1	C	T	5: 24,908,462 (GRCm39)	H404Y	possibly damaging	Het
Or10ak13	T	C	4: 118,639,531 (GRCm39)	M84V	probably damaging	Het
Or4f58	A	T	2: 111,851,458 (GRCm39)	V247E	probably damaging	Het
Or5d47	T	C	2: 87,804,068 (GRCm39)	N314D	probably benign	Het
Or8d2b	T	C	9: 38,788,784 (GRCm39)	L104S	probably benign	Het
Ralyl	A	T	3: 13,842,094 (GRCm39)	M77L	probably benign	Het
Rap1gap	T	A	4: 137,454,364 (GRCm39)	V649E	probably benign	Het
Rnf40	C	A	7: 127,195,744 (GRCm39)	Q663K	probably damaging	Het
Slc22a18	T	C	7: 143,052,837 (GRCm39)	L354P	probably damaging	Het
Slc9a8	T	C	2: 167,309,597 (GRCm39)		probably benign	Het
Surf4	C	T	2: 26,815,619 (GRCm39)		probably null	Het
T	A	T	17: 8,654,069 (GRCm39)	N85Y	probably damaging	Het
Tanc1	A	G	2: 59,630,216 (GRCm39)	E732G	probably damaging	Het
Tas2r138	A	G	6: 40,589,649 (GRCm39)	V199A	possibly damaging	Het
Trim43b	T	C	9: 88,967,541 (GRCm39)	Y365C	possibly damaging	Het
Ubd	T	C	17: 37,506,573 (GRCm39)	L153P	probably damaging	Het
Xpnpep2	A	C	X: 47,215,786 (GRCm39)	M513L	probably benign	Het
Zar1l	C	T	5: 150,441,210 (GRCm39)	G139R	probably damaging	Het
Zc3hav1	T	G	6: 38,309,926 (GRCm39)	T299P	probably damaging	Het
Zfp236	C	A	18: 82,676,120 (GRCm39)		probably benign	Het

Other mutations in Cpne5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0329:Cpne5	UTSW	17	29,430,634 (GRCm39)	missense	probably damaging	1.00
R0330:Cpne5	UTSW	17	29,430,634 (GRCm39)	missense	probably damaging	1.00
R0462:Cpne5	UTSW	17	29,395,163 (GRCm39)	missense	probably benign	0.12
R0699:Cpne5	UTSW	17	29,428,667 (GRCm39)	missense	probably damaging	1.00
R0891:Cpne5	UTSW	17	29,421,893 (GRCm39)	splice site	probably benign
R1872:Cpne5	UTSW	17	29,423,667 (GRCm39)	missense	probably benign	0.12
R2167:Cpne5	UTSW	17	29,381,306 (GRCm39)	missense	probably damaging	1.00
R3901:Cpne5	UTSW	17	29,378,082 (GRCm39)	missense	unknown
R4037:Cpne5	UTSW	17	29,378,087 (GRCm39)	missense	unknown
R4478:Cpne5	UTSW	17	29,428,450 (GRCm39)	missense	probably damaging	0.99
R4588:Cpne5	UTSW	17	29,383,687 (GRCm39)	missense	probably benign	0.10
R4853:Cpne5	UTSW	17	29,380,172 (GRCm39)	missense	probably benign	0.01
R5630:Cpne5	UTSW	17	29,445,190 (GRCm39)	missense	probably damaging	1.00
R5686:Cpne5	UTSW	17	29,402,991 (GRCm39)	missense	possibly damaging	0.83
R7019:Cpne5	UTSW	17	29,445,196 (GRCm39)	missense	probably damaging	1.00
R7086:Cpne5	UTSW	17	29,378,051 (GRCm39)	missense	unknown
R7472:Cpne5	UTSW	17	29,423,714 (GRCm39)	missense	probably benign	0.02
R7596:Cpne5	UTSW	17	29,445,191 (GRCm39)	missense	possibly damaging	0.90
R7649:Cpne5	UTSW	17	29,445,172 (GRCm39)	missense	probably damaging	1.00
R7787:Cpne5	UTSW	17	29,407,261 (GRCm39)	splice site	probably null
R8406:Cpne5	UTSW	17	29,428,455 (GRCm39)	missense	probably benign	0.00
R8444:Cpne5	UTSW	17	29,407,357 (GRCm39)	missense	probably benign	0.07
R8795:Cpne5	UTSW	17	29,423,662 (GRCm39)	critical splice donor site	probably benign
R8821:Cpne5	UTSW	17	29,430,668 (GRCm39)	missense	probably benign	0.00
R9049:Cpne5	UTSW	17	29,379,332 (GRCm39)	missense	probably damaging	1.00
R9072:Cpne5	UTSW	17	29,430,677 (GRCm39)	missense	probably damaging	0.99
R9091:Cpne5	UTSW	17	29,444,163 (GRCm39)	critical splice donor site	probably null
R9270:Cpne5	UTSW	17	29,444,163 (GRCm39)	critical splice donor site	probably null
R9334:Cpne5	UTSW	17	29,423,673 (GRCm39)	missense	probably benign	0.04
R9600:Cpne5	UTSW	17	29,380,520 (GRCm39)	missense	probably damaging	1.00
Z1177:Cpne5	UTSW	17	29,378,156 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16