Mutagenetix > Incidental Mutation

Incidental Mutation 'R0167:Cpne2'

24226

Institutional Source

Beutler Lab

Gene Symbol

Cpne2

Ensembl Gene

ENSMUSG00000034361

Gene Name

copine II

Synonyms

3322401K10Rik

MMRRC Submission

038443-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R0167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95259618-95297159 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 95295207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P59108

Predicted Effect

probably benign
Transcript: ENSMUST00000048653

SMART Domains

Protein: ENSMUSP00000045755
Gene: ENSMUSG00000034361

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

probably benign
Transcript: ENSMUST00000109537

SMART Domains

Protein: ENSMUSP00000105163
Gene: ENSMUSG00000034361

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

noncoding transcript
Transcript: ENSMUST00000156377

Predicted Effect

probably benign
Transcript: ENSMUST00000212550

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

Validation Efficiency

95% (58/61)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,806,969 (GRCm39)	F431L	probably damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Bltp3a	C	T	17: 28,099,176 (GRCm39)	T246M	possibly damaging	Het
Bsn	T	C	9: 108,003,185 (GRCm39)	T407A	probably benign	Het
Ccdc96	T	C	5: 36,642,497 (GRCm39)	F168L	probably benign	Het
Cckar	A	T	5: 53,863,795 (GRCm39)	S55R	probably damaging	Het
Cdh5	A	C	8: 104,863,367 (GRCm39)	I426L	possibly damaging	Het
Clcn1	T	C	6: 42,263,770 (GRCm39)	Y24H	probably damaging	Het
Clpx	G	A	9: 65,224,019 (GRCm39)	R271K	possibly damaging	Het
Col6a3	C	T	1: 90,725,895 (GRCm39)	G1978D	probably damaging	Het
D630023F18Rik	A	G	1: 65,156,340 (GRCm39)	V51A	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dlk2	C	A	17: 46,613,530 (GRCm39)	R262S	possibly damaging	Het
Dubr	G	T	16: 50,553,007 (GRCm39)		noncoding transcript	Het
Elane	T	A	10: 79,722,933 (GRCm39)		probably null	Het
Eya2	T	G	2: 165,558,032 (GRCm39)	S209R	possibly damaging	Het
Fam171a1	C	T	2: 3,187,469 (GRCm39)	S112L	probably damaging	Het
Fsip2	T	A	2: 82,811,151 (GRCm39)	M2490K	possibly damaging	Het
Galnt14	T	C	17: 73,829,715 (GRCm39)	T277A	probably damaging	Het
Golga1	T	C	2: 38,937,660 (GRCm39)	N128S	probably benign	Het
H1f6	T	C	13: 23,879,886 (GRCm39)	V13A	probably benign	Het
Hdac2	T	C	10: 36,876,368 (GRCm39)	V461A	probably benign	Het
Hey2	A	G	10: 30,716,661 (GRCm39)	V34A	probably benign	Het
Ift22	T	C	5: 136,940,745 (GRCm39)	C137R	probably benign	Het
Lrp2	T	C	2: 69,256,002 (GRCm39)	D4657G	possibly damaging	Het
Lrrn3	T	A	12: 41,504,014 (GRCm39)	Q101L	probably damaging	Het
Med25	A	G	7: 44,532,521 (GRCm39)		probably null	Het
Mup5	T	A	4: 61,752,019 (GRCm39)		probably null	Het
Or51aa5	A	T	7: 103,166,708 (GRCm39)	Y294*	probably null	Het
Or5ac23	A	T	16: 59,149,337 (GRCm39)	C178*	probably null	Het
Or9q2	T	C	19: 13,772,931 (GRCm39)	T15A	probably benign	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Parg	T	C	14: 31,939,693 (GRCm39)		probably null	Het
Prep	A	G	10: 45,034,326 (GRCm39)		probably null	Het
Prss1l	T	A	6: 41,373,195 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,385,055 (GRCm39)		probably null	Het
Rbbp8	T	A	18: 11,793,979 (GRCm39)	Y30*	probably null	Het
Rhbdd1	T	C	1: 82,320,505 (GRCm39)	V163A	probably benign	Het
Setd2	T	A	9: 110,402,850 (GRCm39)	N1830K	probably damaging	Het
Shc4	T	G	2: 125,564,933 (GRCm39)	N122T	probably benign	Het
Shroom3	T	C	5: 93,096,254 (GRCm39)		probably benign	Het
Snx14	A	T	9: 88,289,469 (GRCm39)	L261Q	probably damaging	Het
St8sia1	A	G	6: 142,859,907 (GRCm39)		probably benign	Het
Thbs2	A	T	17: 14,887,787 (GRCm39)		probably benign	Het
Tpp2	T	C	1: 44,009,648 (GRCm39)	V494A	probably benign	Het
Trdmt1	A	T	2: 13,520,829 (GRCm39)	F358I	probably damaging	Het
Ttn	T	A	2: 76,719,867 (GRCm39)		probably benign	Het
Uggt1	A	G	1: 36,209,278 (GRCm39)		probably null	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vstm2a	T	A	11: 16,208,044 (GRCm39)	F13I	probably damaging	Het
Zfp804a	T	G	2: 82,086,860 (GRCm39)	F230V	probably damaging	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
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
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'- GTGCAAGCATTCCTGCCCACAAAG -3'
(R):5'- ATGGCTGCAAAGTCAGCATTGCCC -3'

Sequencing Primer
(F):5'- gatgaaaccgaatctcagcag -3'
(R):5'- CACACCCACGATGATGATGG -3'

Posted On

2013-04-16