Mutagenetix > Incidental Mutation

Incidental Mutation 'R8185:Cpne7'

634829

Institutional Source

Beutler Lab

Gene Symbol

Cpne7

Ensembl Gene

ENSMUSG00000034796

Gene Name

copine VII

Synonyms

MMRRC Submission

067608-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8185 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123844113-123861921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123854168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 285 (A285V)

Ref Sequence

ENSEMBL: ENSMUSP00000042159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037900] [ENSMUST00000127664]

AlphaFold

Q0VE82

Predicted Effect

probably benign
Transcript: ENSMUST00000037900
AA Change: A285V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042159
Gene: ENSMUSG00000034796
AA Change: A285V

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
C2	21	127	7.18e-8	SMART
C2	142	259	5.92e-9	SMART
VWA	304	510	7.2e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	C	5: 88,120,011 (GRCm39)	V256A	possibly damaging	Het
Ackr3	G	A	1: 90,141,666 (GRCm39)	V42M	probably benign	Het
C9	T	A	15: 6,520,878 (GRCm39)	I441N	probably damaging	Het
Cd44	G	A	2: 102,654,665 (GRCm39)	A667V	possibly damaging	Het
Cdc23	T	C	18: 34,774,197 (GRCm39)	N322D	probably benign	Het
Chrm2	A	G	6: 36,500,824 (GRCm39)	N227S	probably benign	Het
Cnot1	C	T	8: 96,487,979 (GRCm39)	R559Q	probably damaging	Het
Cntnap4	A	G	8: 113,391,897 (GRCm39)	N121D	probably damaging	Het
Cog7	A	G	7: 121,576,969 (GRCm39)	L63P	probably damaging	Het
Cpsf7	C	T	19: 10,514,224 (GRCm39)	R343*	probably null	Het
Cubn	T	G	2: 13,299,129 (GRCm39)	K3181N	probably benign	Het
Dsg1a	C	T	18: 20,473,669 (GRCm39)	T914I	probably damaging	Het
Ebf3	A	T	7: 136,827,607 (GRCm39)	C255S	possibly damaging	Het
Eif1ad5	T	A	12: 87,940,433 (GRCm39)	W46R	noncoding transcript	Het
Fasn	A	T	11: 120,702,969 (GRCm39)	I1658N	probably benign	Het
Fcgr2b	A	G	1: 170,794,020 (GRCm39)	V210A	probably damaging	Het
Flvcr1	G	A	1: 190,747,681 (GRCm39)	P305S	probably damaging	Het
Frem3	G	T	8: 81,338,933 (GRCm39)	E409*	probably null	Het
Gabrr2	T	A	4: 33,082,330 (GRCm39)	D213E	probably damaging	Het
Ggt1	T	A	10: 75,421,040 (GRCm39)	D418E	possibly damaging	Het
Immt	C	T	6: 71,849,835 (GRCm39)	Q530*	probably null	Het
Ints10	T	C	8: 69,249,370 (GRCm39)	F67L	possibly damaging	Het
Kdm4c	C	T	4: 74,291,821 (GRCm39)	H813Y	probably benign	Het
Klhl5	T	A	5: 65,313,471 (GRCm39)	M395K	probably damaging	Het
Klk1b11	T	C	7: 43,426,332 (GRCm39)	I49T	probably damaging	Het
Lmln	A	T	16: 32,909,690 (GRCm39)	N357I	probably damaging	Het
Lpar1	A	T	4: 58,486,509 (GRCm39)	M254K	probably damaging	Het
Macc1	T	C	12: 119,410,894 (GRCm39)	V554A	probably damaging	Het
Melk	G	A	4: 44,360,965 (GRCm39)	V582I	probably benign	Het
Mmp27	A	G	9: 7,573,492 (GRCm39)	T195A	unknown	Het
Nedd4l	T	C	18: 65,342,769 (GRCm39)	F781L	probably damaging	Het
Nvl	G	A	1: 180,971,739 (GRCm39)		probably benign	Het
Nxpe4	G	A	9: 48,304,509 (GRCm39)	D199N	possibly damaging	Het
Or2k2	T	C	4: 58,785,542 (GRCm39)	Y60C	probably damaging	Het
Or8b8	A	C	9: 37,809,531 (GRCm39)	Y277S	probably damaging	Het
Ovol1	T	C	19: 5,601,542 (GRCm39)	D160G	probably damaging	Het
Ppp1r13l	C	T	7: 19,106,863 (GRCm39)	P453S	probably benign	Het
Ppp1r37	C	T	7: 19,266,873 (GRCm39)	G373S	probably damaging	Het
Slc7a9	T	C	7: 35,151,842 (GRCm39)	S46P	probably damaging	Het
Sntn	A	G	14: 13,679,014 (GRCm38)	I63V	probably benign	Het
Syde2	T	C	3: 145,694,667 (GRCm39)	V305A	probably benign	Het
Tpp1	A	T	7: 105,398,430 (GRCm39)		probably null	Het
Vmn1r179	A	T	7: 23,628,163 (GRCm39)	N118I	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het

Other mutations in Cpne7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01919:Cpne7	APN	8	123,852,382 (GRCm39)	missense	probably damaging	0.99
IGL02111:Cpne7	APN	8	123,852,392 (GRCm39)	intron	probably benign
IGL02245:Cpne7	APN	8	123,844,357 (GRCm39)	missense	probably damaging	1.00
IGL03000:Cpne7	APN	8	123,853,435 (GRCm39)	missense	probably benign	0.07
R0501:Cpne7	UTSW	8	123,852,994 (GRCm39)	missense	possibly damaging	0.95
R0727:Cpne7	UTSW	8	123,853,025 (GRCm39)	missense	probably damaging	0.98
R1750:Cpne7	UTSW	8	123,861,263 (GRCm39)	missense	probably damaging	1.00
R1991:Cpne7	UTSW	8	123,854,176 (GRCm39)	missense	possibly damaging	0.94
R2103:Cpne7	UTSW	8	123,854,176 (GRCm39)	missense	possibly damaging	0.94
R2219:Cpne7	UTSW	8	123,851,177 (GRCm39)	missense	probably benign	0.12
R2350:Cpne7	UTSW	8	123,851,208 (GRCm39)	missense	probably damaging	1.00
R2513:Cpne7	UTSW	8	123,844,406 (GRCm39)	splice site	probably null
R4657:Cpne7	UTSW	8	123,861,314 (GRCm39)	makesense	probably null
R4961:Cpne7	UTSW	8	123,860,498 (GRCm39)	missense	probably damaging	0.99
R6148:Cpne7	UTSW	8	123,854,171 (GRCm39)	missense	probably benign	0.00
R7566:Cpne7	UTSW	8	123,860,552 (GRCm39)	missense	probably damaging	1.00
R7712:Cpne7	UTSW	8	123,850,920 (GRCm39)	missense	probably damaging	0.98
R7984:Cpne7	UTSW	8	123,846,461 (GRCm39)	missense	possibly damaging	0.91
R8978:Cpne7	UTSW	8	123,861,177 (GRCm39)	critical splice acceptor site	probably null
R9031:Cpne7	UTSW	8	123,856,951 (GRCm39)	missense	probably damaging	1.00
R9043:Cpne7	UTSW	8	123,856,951 (GRCm39)	missense	probably damaging	1.00
R9044:Cpne7	UTSW	8	123,856,951 (GRCm39)	missense	probably damaging	1.00
R9079:Cpne7	UTSW	8	123,856,951 (GRCm39)	missense	probably damaging	1.00
R9080:Cpne7	UTSW	8	123,856,951 (GRCm39)	missense	probably damaging	1.00
R9083:Cpne7	UTSW	8	123,856,951 (GRCm39)	missense	probably damaging	1.00
R9084:Cpne7	UTSW	8	123,856,951 (GRCm39)	missense	probably damaging	1.00
R9443:Cpne7	UTSW	8	123,853,411 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACGGGCTTTGTATGCACTG -3'
(R):5'- AAGTCTGTGGGAGTGTCTTCCC -3'

Sequencing Primer
(F):5'- TGGAGTGTGAGGTCCCCAG -3'
(R):5'- AGTGTCTTCCCCACTCCC -3'

Posted On

2020-07-13