Mutagenetix > Incidental Mutation

Incidental Mutation 'R9588:Cpne2'

722891

Institutional Source

Beutler Lab

Gene Symbol

Cpne2

Ensembl Gene

ENSMUSG00000034361

Gene Name

copine II

Synonyms

3322401K10Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9588 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95259618-95297159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95286781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 369 (P369Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045755 (fasta)

Gene Model

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

AlphaFold

P59108

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048653
AA Change: P369Q

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045755
Gene: ENSMUSG00000034361
AA Change: P369Q

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 damaging
Transcript: ENSMUST00000109537
AA Change: P369Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105163
Gene: ENSMUSG00000034361
AA Change: P369Q

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

probably benign
Transcript: ENSMUST00000212550

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	T	C	2: 158,468,328 (GRCm39)	F153L	possibly damaging	Het
Ano3	T	C	2: 110,528,342 (GRCm39)	K491E	possibly damaging	Het
Arhgap21	C	A	2: 20,858,938 (GRCm39)	C1252F	possibly damaging	Het
Bcat1	T	C	6: 144,950,126 (GRCm39)	N424S	probably benign	Het
Ccdc61	A	G	7: 18,644,266 (GRCm39)		probably benign	Het
Cecr2	T	C	6: 120,733,770 (GRCm39)	S586P	possibly damaging	Het
Chd3	A	G	11: 69,241,046 (GRCm39)	C1516R	probably damaging	Het
Cops5	C	A	1: 10,108,222 (GRCm39)	R5L	unknown	Het
Cyp3a25	G	T	5: 145,921,699 (GRCm39)	Q412K	probably benign	Het
Dbn1	A	G	13: 55,622,785 (GRCm39)	V612A	probably benign	Het
Dnah17	T	C	11: 118,012,783 (GRCm39)	D426G	probably benign	Het
Dolpp1	T	A	2: 30,282,515 (GRCm39)	Y23N	probably damaging	Het
Egf	T	C	3: 129,511,617 (GRCm39)	M517V	probably benign	Het
Fbxw27	ATGT	AT	9: 109,602,322 (GRCm39)		probably null	Het
Foxc1	A	T	13: 31,992,587 (GRCm39)	H466L	unknown	Het
Hsf2bp	A	G	17: 32,241,810 (GRCm39)	L78P	probably damaging	Het
Ikbkb	G	A	8: 23,151,410 (GRCm39)	A738V	unknown	Het
Itgb8	G	T	12: 119,140,754 (GRCm39)	N374K	probably benign	Het
Kif16b	T	A	2: 142,553,804 (GRCm39)	Q998L	possibly damaging	Het
Krtap11-1	A	C	16: 89,368,062 (GRCm39)		probably benign	Het
Lamp3	T	A	16: 19,494,832 (GRCm39)		probably null	Het
Lrrc43	A	T	5: 123,641,307 (GRCm39)	H497L	probably damaging	Het
Mmp1a	C	T	9: 7,467,225 (GRCm39)	T267I	probably benign	Het
Mroh2b	T	A	15: 4,978,130 (GRCm39)	D1299E	probably benign	Het
Ndst4	A	C	3: 125,476,808 (GRCm39)	H11P	probably damaging	Het
Oas1c	A	G	5: 120,946,202 (GRCm39)	F99L	probably benign	Het
Or10s1	T	C	9: 39,986,353 (GRCm39)	L254P	probably damaging	Het
Or14c39	T	A	7: 86,343,948 (GRCm39)	C95S	probably damaging	Het
Or1j11	G	T	2: 36,311,784 (GRCm39)	A125S	probably damaging	Het
Or5w15	G	A	2: 87,568,644 (GRCm39)	T8I	probably benign	Het
Pcdhga3	A	G	18: 37,808,564 (GRCm39)	D339G	probably damaging	Het
Pcsk1	A	T	13: 75,259,039 (GRCm39)	N271I	probably damaging	Het
Pdilt	A	T	7: 119,100,870 (GRCm39)	D160E	probably benign	Het
Psma4	A	T	9: 54,862,245 (GRCm39)	Q123L	probably damaging	Het
Selenbp2	A	T	3: 94,605,368 (GRCm39)	I127F	possibly damaging	Het
Setd5	A	G	6: 113,121,025 (GRCm39)	N1078S	probably damaging	Het
Sorl1	A	C	9: 41,993,105 (GRCm39)	Y306*	probably null	Het
Spata17	T	C	1: 186,849,471 (GRCm39)	K255E	possibly damaging	Het
Surf4	C	A	2: 26,823,622 (GRCm39)		probably benign	Het
Tbc1d16	G	T	11: 119,101,335 (GRCm39)	H58Q	probably damaging	Het
Tfdp2	A	G	9: 96,169,663 (GRCm39)	T5A	probably damaging	Het
Thsd7b	T	G	1: 130,108,223 (GRCm39)	C1313G	probably damaging	Het
Trmt44	A	T	5: 35,727,256 (GRCm39)	C320S	probably damaging	Het
Unc119b	G	A	5: 115,272,827 (GRCm39)	T48M	probably benign	Het
Vit	T	A	17: 78,930,079 (GRCm39)	I348N	probably damaging	Het
Vmn1r184	T	A	7: 25,966,347 (GRCm39)	M31K	probably null	Het
Vmn2r81	A	G	10: 79,129,205 (GRCm39)	T699A	possibly damaging	Het
Xrn1	A	G	9: 95,920,756 (GRCm39)	T1339A	probably benign	Het
Zfp827	T	A	8: 79,905,604 (GRCm39)	H860Q	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
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
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'- GCTTAGTGGGGAATAATTGTAGAGC -3'
(R):5'- AGACCATCCTCTGCTTGTCG -3'

Sequencing Primer
(F):5'- CAGTGAATTTCTGCACCTGGG -3'
(R):5'- GCCTGGCCTCACTCACAGAG -3'

Posted On

2022-08-09