Mutagenetix > Incidental Mutation

Incidental Mutation 'R0018:Cpne2'

64940

Institutional Source

Beutler Lab

Gene Symbol

Cpne2

Ensembl Gene

ENSMUSG00000034361

Gene Name

copine II

Synonyms

3322401K10Rik

MMRRC Submission

038313-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

95259618-95297159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95282681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 59 (C59S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048653] [ENSMUST00000109537]

AlphaFold

P59108

Predicted Effect

probably benign
Transcript: ENSMUST00000048653
AA Change: C288S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045755
Gene: ENSMUSG00000034361
AA Change: C288S

Domain	Start	End	E-Value	Type
C2	24	130	1.82e-9	SMART
C2	155	261	8.25e-8	SMART
low complexity region	269	278	N/A	INTRINSIC
VWA	305	507	7.26e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109537
AA Change: C288S

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105163
Gene: ENSMUSG00000034361
AA Change: C288S

Domain	Start	End	E-Value	Type
C2	24	130	1.82e-9	SMART
C2	155	261	8.25e-8	SMART
low complexity region	269	278	N/A	INTRINSIC
VWA	305	506	8.94e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212550
AA Change: C59S

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.6352

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (64/64)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,532,162 (GRCm39)		probably null	Het
Afp	A	C	5: 90,654,600 (GRCm39)	Q546P	probably damaging	Het
Api5	A	T	2: 94,251,329 (GRCm39)		probably null	Het
Atp2b4	T	A	1: 133,645,609 (GRCm39)	I982F	probably damaging	Het
BC024139	G	A	15: 76,005,087 (GRCm39)	Q592*	probably null	Het
Capn7	T	A	14: 31,076,069 (GRCm39)	C290*	probably null	Het
Ccn1	A	G	3: 145,355,186 (GRCm39)	L23P	probably damaging	Het
Celsr1	T	A	15: 85,915,243 (GRCm39)	D910V	possibly damaging	Het
Chga	T	C	12: 102,524,764 (GRCm39)	S45P	probably damaging	Het
Cyp2b13	G	A	7: 25,785,375 (GRCm39)	R248H	probably benign	Het
Dennd1a	T	A	2: 37,748,472 (GRCm39)	T336S	possibly damaging	Het
Drc7	A	G	8: 95,800,862 (GRCm39)	Y628C	probably damaging	Het
Dse	A	G	10: 34,029,464 (GRCm39)	V542A	probably benign	Het
Dspp	A	T	5: 104,326,096 (GRCm39)	S820C	unknown	Het
Efcab3	G	A	11: 104,612,378 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,057,970 (GRCm39)	S91P	unknown	Het
Epop	A	G	11: 97,519,017 (GRCm39)	V364A	probably benign	Het
Ext2	G	A	2: 93,626,037 (GRCm39)	P341L	probably damaging	Het
Galns	T	C	8: 123,311,724 (GRCm39)	T429A	probably benign	Het
Gsx2	A	G	5: 75,237,828 (GRCm39)	K260R	probably damaging	Het
H2-M10.6	A	C	17: 37,124,941 (GRCm39)	H286P	probably damaging	Het
Hectd4	A	G	5: 121,392,242 (GRCm39)	N169D	possibly damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hmcn1	T	C	1: 150,528,302 (GRCm39)	D3282G	probably benign	Het
Hnmt	T	A	2: 23,893,640 (GRCm39)	N285Y	possibly damaging	Het
Hr	A	G	14: 70,795,717 (GRCm39)	R450G	probably benign	Het
Kat6a	A	G	8: 23,419,289 (GRCm39)	D684G	possibly damaging	Het
Kif27	T	G	13: 58,435,867 (GRCm39)	I1309L	probably benign	Het
Mab21l4	T	A	1: 93,082,327 (GRCm39)	D264V	probably benign	Het
Man2b1	T	A	8: 85,824,118 (GRCm39)	V1005E	probably damaging	Het
Me2	A	T	18: 73,924,923 (GRCm39)	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,779,007 (GRCm39)	T1588S	probably benign	Het
Neu4	T	A	1: 93,953,060 (GRCm39)	D476E	probably benign	Het
Nlrp9c	T	A	7: 26,071,423 (GRCm39)	Q895L	possibly damaging	Het
Or1e35	T	C	11: 73,797,452 (GRCm39)	I289V	probably damaging	Het
Or1p1c	A	C	11: 74,160,934 (GRCm39)	T240P	probably benign	Het
Pdzd8	C	T	19: 59,289,105 (GRCm39)	R765H	probably damaging	Het
Plk1	T	C	7: 121,768,208 (GRCm39)		probably null	Het
Ppfia2	A	G	10: 106,678,647 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,544,406 (GRCm39)	Y1799H	probably benign	Het
Psmc1	T	C	12: 100,082,951 (GRCm39)		probably benign	Het
Ptchd3	A	C	11: 121,733,170 (GRCm39)	I687L	probably benign	Het
Ptprh	A	G	7: 4,604,845 (GRCm39)		probably null	Het
Pus3	A	G	9: 35,477,920 (GRCm39)	D384G	probably benign	Het
Rab44	C	T	17: 29,358,354 (GRCm39)	P181S	probably benign	Het
Rasa2	A	G	9: 96,454,016 (GRCm39)	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,558,360 (GRCm39)	D142G	probably damaging	Het
Reln	A	T	5: 22,130,369 (GRCm39)	D2647E	probably benign	Het
Ryr2	G	A	13: 11,610,109 (GRCm39)	T4239I	possibly damaging	Het
Sctr	C	A	1: 119,971,286 (GRCm39)		probably benign	Het
Serpinb6e	A	T	13: 34,021,828 (GRCm39)	Y167N	probably damaging	Het
Slc13a5	T	C	11: 72,157,301 (GRCm39)	I31V	probably benign	Het
Slc15a4	A	T	5: 127,679,074 (GRCm39)	I422N	probably damaging	Het
Stk24	G	A	14: 121,545,419 (GRCm39)		probably benign	Het
Vmn1r213	T	A	13: 23,196,311 (GRCm39)	V298D	probably damaging	Het
Xdh	C	T	17: 74,232,020 (GRCm39)	R230H	probably benign	Het
Zfp418	A	T	7: 7,185,449 (GRCm39)	S471C	probably benign	Het

Other mutations in Cpne2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01688:Cpne2	APN	8	95,281,381 (GRCm39)	missense	possibly damaging	0.84
IGL02702:Cpne2	APN	8	95,296,651 (GRCm39)	missense	probably benign	0.03
IGL03277:Cpne2	APN	8	95,275,000 (GRCm39)	missense	probably benign	0.00
R0018:Cpne2	UTSW	8	95,282,681 (GRCm39)	missense	possibly damaging	0.93
R0126:Cpne2	UTSW	8	95,281,561 (GRCm39)	missense	probably damaging	1.00
R0135:Cpne2	UTSW	8	95,281,553 (GRCm39)	unclassified	probably benign
R0167:Cpne2	UTSW	8	95,295,207 (GRCm39)	unclassified	probably benign
R0661:Cpne2	UTSW	8	95,282,667 (GRCm39)	missense	possibly damaging	0.78
R0671:Cpne2	UTSW	8	95,274,970 (GRCm39)	start gained	probably benign
R4691:Cpne2	UTSW	8	95,284,849 (GRCm39)	missense	probably damaging	0.99
R4856:Cpne2	UTSW	8	95,290,592 (GRCm39)	missense	probably benign	0.00
R4886:Cpne2	UTSW	8	95,290,592 (GRCm39)	missense	probably benign	0.00
R6632:Cpne2	UTSW	8	95,281,583 (GRCm39)	missense	probably benign	0.00
R6699:Cpne2	UTSW	8	95,290,587 (GRCm39)	missense	probably damaging	0.99
R6968:Cpne2	UTSW	8	95,275,130 (GRCm39)	missense	probably damaging	1.00
R7117:Cpne2	UTSW	8	95,282,172 (GRCm39)	missense	probably damaging	1.00
R7505:Cpne2	UTSW	8	95,275,094 (GRCm39)	missense	possibly damaging	0.90
R7571:Cpne2	UTSW	8	95,278,408 (GRCm39)	missense	probably benign
R7583:Cpne2	UTSW	8	95,282,209 (GRCm39)	missense	probably benign
R7612:Cpne2	UTSW	8	95,284,048 (GRCm39)	missense	probably benign	0.01
R7745:Cpne2	UTSW	8	95,295,312 (GRCm39)	missense	probably damaging	1.00
R7845:Cpne2	UTSW	8	95,277,832 (GRCm39)	missense	probably benign	0.16
R8278:Cpne2	UTSW	8	95,281,316 (GRCm39)	missense	probably damaging	1.00
R8319:Cpne2	UTSW	8	95,280,040 (GRCm39)	missense	probably benign	0.01
R8954:Cpne2	UTSW	8	95,284,774 (GRCm39)	missense	probably damaging	1.00
R9082:Cpne2	UTSW	8	95,295,237 (GRCm39)	missense	probably benign	0.45
R9275:Cpne2	UTSW	8	95,281,643 (GRCm39)	missense	possibly damaging	0.95
R9588:Cpne2	UTSW	8	95,286,781 (GRCm39)	missense	possibly damaging	0.92
R9734:Cpne2	UTSW	8	95,295,228 (GRCm39)	missense	probably benign	0.34
X0025:Cpne2	UTSW	8	95,284,079 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCCAGGATGTTGGACCAAGCAG -3'
(R):5'- TCTACAGTGTAAGCCTCCACGGAAG -3'

Sequencing Primer
(F):5'- gcactcaatcacacctctcc -3'
(R):5'- CCTCCACGGAAGAGGGAAC -3'

Posted On

2013-08-06