Mutagenetix > Incidental Mutation

Incidental Mutation 'R6148:Cpne7'

489027

Institutional Source

Beutler Lab

Gene Symbol

Cpne7

Ensembl Gene

ENSMUSG00000034796

Gene Name

copine VII

Synonyms

MMRRC Submission

044295-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6148 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123844113-123861921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123854171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 286 (D286G)

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: D286G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000042159
Gene: ENSMUSG00000034796
AA Change: D286G

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

noncoding transcript
Transcript: ENSMUST00000123191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127431

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134235

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184815

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

95% (61/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,234,200 (GRCm39)	C1067S	possibly damaging	Het
AAdacl4fm3	T	C	4: 144,447,887 (GRCm39)	T30A	possibly damaging	Het
Agbl3	T	A	6: 34,834,688 (GRCm39)	S952R	possibly damaging	Het
Ano9	A	G	7: 140,686,698 (GRCm39)	Y429H	probably damaging	Het
Bbs7	C	A	3: 36,667,415 (GRCm39)	R7L	probably damaging	Het
Birc2	T	A	9: 7,849,684 (GRCm39)	D535V	possibly damaging	Het
Catsper4	A	G	4: 133,945,240 (GRCm39)	V206A	probably damaging	Het
Ccdc73	T	G	2: 104,822,482 (GRCm39)	S810R	possibly damaging	Het
Cd177	A	T	7: 24,443,698 (GRCm39)	L800*	probably null	Het
Cd34	T	C	1: 194,630,316 (GRCm39)		probably null	Het
Cep78	G	A	19: 15,959,150 (GRCm39)	R95*	probably null	Het
Cfap69	T	C	5: 5,713,996 (GRCm39)	D12G	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,759,803 (GRCm39)		probably null	Het
Cxcl5	A	T	5: 90,907,565 (GRCm39)	I46L	probably benign	Het
Cyp19a1	C	T	9: 54,087,540 (GRCm39)	G59D	probably damaging	Het
Dclre1c	A	G	2: 3,438,742 (GRCm39)	D35G	probably damaging	Het
Defa41	A	G	8: 21,692,428 (GRCm39)	N83S	probably benign	Het
Dvl1	A	G	4: 155,939,409 (GRCm39)	Y279C	probably damaging	Het
Fes	A	G	7: 80,030,044 (GRCm39)	L578P	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fmn2	T	C	1: 174,494,229 (GRCm39)	S1248P	probably damaging	Het
Fmo1	T	G	1: 162,679,088 (GRCm39)	S53R	probably damaging	Het
Gabrg1	A	T	5: 70,931,804 (GRCm39)	M313K	probably damaging	Het
Galnt10	T	C	11: 57,675,474 (GRCm39)	C578R	probably damaging	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Gsap	A	G	5: 21,431,323 (GRCm39)	R216G	probably damaging	Het
Gsap	A	T	5: 21,475,575 (GRCm39)	T570S	probably benign	Het
Gucy2d	A	T	7: 98,093,030 (GRCm39)	I136L	probably benign	Het
Hap1	A	T	11: 100,240,218 (GRCm39)	V294E	probably damaging	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Irf5	T	C	6: 29,535,958 (GRCm39)	L324P	probably damaging	Het
Itsn1	C	T	16: 91,613,740 (GRCm39)	R251C	probably damaging	Het
Klf11	T	C	12: 24,701,567 (GRCm39)		probably null	Het
Kpna6	G	A	4: 129,543,099 (GRCm39)	Q439*	probably null	Het
Mark4	A	T	7: 19,163,441 (GRCm39)	S563T	probably benign	Het
Mrpl21	A	T	19: 3,333,084 (GRCm39)	I5L	probably benign	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Myrf	G	A	19: 10,189,839 (GRCm39)	T815I	probably damaging	Het
Olfr515-ps1	A	T	7: 108,444,178 (GRCm39)		probably null	Het
Or10d4c	G	T	9: 39,558,555 (GRCm39)	D178Y	probably damaging	Het
Or11g27	A	G	14: 50,771,778 (GRCm39)	N303S	probably benign	Het
Or4c15	C	T	2: 88,760,597 (GRCm39)	V21I	probably benign	Het
Or52n3	A	G	7: 104,530,289 (GRCm39)	Y125C	possibly damaging	Het
Os9	T	C	10: 126,935,812 (GRCm39)	D280G	probably benign	Het
Pcdhb14	A	G	18: 37,582,283 (GRCm39)	N463S	probably damaging	Het
Pex19	G	A	1: 171,961,606 (GRCm39)	E271K	probably damaging	Het
Ppdpf	G	A	2: 180,829,641 (GRCm39)	S32N	probably benign	Het
Prdm2	A	G	4: 142,859,477 (GRCm39)	I1271T	probably benign	Het
Rbbp4	T	C	4: 129,215,751 (GRCm39)	T262A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Spaca9	G	A	2: 28,583,793 (GRCm39)	R64W	probably damaging	Het
Sult1e1	A	T	5: 87,727,770 (GRCm39)	S171T	probably damaging	Het
Tns1	T	C	1: 73,992,612 (GRCm39)	T689A	probably damaging	Het
Unc13c	G	C	9: 73,600,648 (GRCm39)	N1365K	probably benign	Het
Vmn2r52	T	C	7: 9,905,090 (GRCm39)	I250V	probably benign	Het
Vmn2r55	C	A	7: 12,402,069 (GRCm39)	L406F	probably benign	Het
Wdcp	T	C	12: 4,900,621 (GRCm39)	V159A	possibly damaging	Het
Zbtb3	C	T	19: 8,781,560 (GRCm39)	A391V	probably benign	Het
Znhit1	A	T	5: 137,011,487 (GRCm39)	S109T	probably benign	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
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
R8185:Cpne7	UTSW	8	123,854,168 (GRCm39)	missense	probably benign	0.04
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'- CACTGAAGTCTGTGGGAGTGTC -3'

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

Posted On

2017-10-10