Mutagenetix > Incidental Mutation

Incidental Mutation 'R7984:Cpne7'

651375

Institutional Source

Beutler Lab

Gene Symbol

Cpne7

Ensembl Gene

ENSMUSG00000034796

Gene Name

copine VII

Synonyms

MMRRC Submission

046025-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7984 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123844113-123861921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 123846461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 91 (V91G)

Ref Sequence

ENSEMBL: ENSMUSP00000042159 (fasta)

Gene Model

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

AlphaFold

Q0VE82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037900
AA Change: V91G

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042159
Gene: ENSMUSG00000034796
AA Change: V91G

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (58/58)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1e1	G	T	13: 4,645,679 (GRCm39)	H226N	probably damaging	Het
Aldh1a7	T	C	19: 20,686,764 (GRCm39)	D283G	probably damaging	Het
Angel1	T	C	12: 86,767,068 (GRCm39)	D436G	probably benign	Het
Ank1	G	A	8: 23,578,982 (GRCm39)	R314Q	probably damaging	Het
Apbb2	T	C	5: 66,465,035 (GRCm39)	E629G	probably damaging	Het
Card9	T	G	2: 26,246,784 (GRCm39)	I355L	probably benign	Het
Cdon	C	T	9: 35,414,598 (GRCm39)	P1158S	probably benign	Het
Dlc1	T	A	8: 37,405,472 (GRCm39)	T106S	possibly damaging	Het
Dnah1	A	T	14: 30,989,772 (GRCm39)	F3248Y	probably damaging	Het
Dnah7a	A	T	1: 53,543,377 (GRCm39)	D2264E	probably benign	Het
Dock7	A	T	4: 98,877,303 (GRCm39)	N1078K	unknown	Het
Emc1	T	A	4: 139,102,760 (GRCm39)	L973H	probably damaging	Het
Fer1l5	T	A	1: 36,447,702 (GRCm39)	L955Q	possibly damaging	Het
Fpr-rs7	T	C	17: 20,333,671 (GRCm39)	N273S	probably benign	Het
Gle1	T	A	2: 29,828,588 (GRCm39)	Y137N	probably damaging	Het
Grik4	G	A	9: 42,582,557 (GRCm39)	Q130*	probably null	Het
Hcn1	C	T	13: 118,112,609 (GRCm39)	Q858*	probably null	Het
Heg1	A	C	16: 33,583,945 (GRCm39)	S76R	possibly damaging	Het
Ikbke	T	A	1: 131,203,523 (GRCm39)	E50V	probably null	Het
Itga5	G	A	15: 103,264,379 (GRCm39)	P297S	probably damaging	Het
Kcng1	C	A	2: 168,104,406 (GRCm39)	R480L	possibly damaging	Het
Kdm3b	G	T	18: 34,956,752 (GRCm39)	E1236*	probably null	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lrp5	A	G	19: 3,662,342 (GRCm39)	F894L	probably damaging	Het
Lrrk1	T	C	7: 65,950,477 (GRCm39)		probably null	Het
Man2a2	T	G	7: 80,003,056 (GRCm39)	T1018P	probably damaging	Het
Mctp2	T	C	7: 71,752,937 (GRCm39)	Q772R	possibly damaging	Het
Meioc	T	A	11: 102,565,432 (GRCm39)	N293K	possibly damaging	Het
Mrps24	A	T	11: 5,657,495 (GRCm39)	C34S	possibly damaging	Het
Nek1	G	T	8: 61,574,087 (GRCm39)	E1112*	probably null	Het
Nt5dc2	A	G	14: 30,860,775 (GRCm39)	S317G	probably damaging	Het
Obscn	G	T	11: 58,997,151 (GRCm39)	Q1492K	possibly damaging	Het
Or2a57	T	G	6: 43,212,730 (GRCm39)	S63A	probably damaging	Het
Or52e4	T	C	7: 104,705,639 (GRCm39)	F62S	probably damaging	Het
Or6c69	A	G	10: 129,747,941 (GRCm39)	F69L	probably benign	Het
Or8b36	A	G	9: 37,937,155 (GRCm39)	T18A	probably damaging	Het
Or9m1b	T	A	2: 87,836,969 (GRCm39)	N42I	probably damaging	Het
Or9s23	A	G	1: 92,501,144 (GRCm39)	I84V	probably benign	Het
P2ry12	T	A	3: 59,125,022 (GRCm39)	I218F	probably damaging	Het
Paip1	C	T	13: 119,566,698 (GRCm39)	Q11*	probably null	Het
Pcdhga3	C	A	18: 37,809,549 (GRCm39)	D667E	probably benign	Het
Pcnx2	T	G	8: 126,485,865 (GRCm39)	E1911A	probably benign	Het
Pibf1	T	C	14: 99,459,063 (GRCm39)	L678P	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Prickle2	T	C	6: 92,387,855 (GRCm39)	T516A	probably benign	Het
Prl2c1	G	A	13: 28,039,310 (GRCm39)		probably null	Het
Rnf112	A	G	11: 61,340,306 (GRCm39)	V656A	possibly damaging	Het
Siglecf	A	C	7: 43,004,655 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,856,811 (GRCm39)	L32*	probably null	Het
Slc7a1	A	G	5: 148,278,920 (GRCm39)	V284A	possibly damaging	Het
Slco5a1	T	A	1: 12,951,608 (GRCm39)	H565L	probably damaging	Het
Slit2	A	G	5: 48,333,465 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,929,497 (GRCm39)	T255A	probably benign	Het
Tmem130	C	T	5: 144,692,237 (GRCm39)	G56R	possibly damaging	Het
Trmt1l	A	C	1: 151,311,489 (GRCm39)	Q116H	probably benign	Het
Ttn	A	T	2: 76,554,094 (GRCm39)	W30870R	probably damaging	Het
Unc13b	A	T	4: 43,173,973 (GRCm39)	L1600F	unknown	Het
Vmn1r233	C	T	17: 21,214,417 (GRCm39)	V178M	probably damaging	Het
Vmn2r18	G	A	5: 151,485,526 (GRCm39)	P656L	probably damaging	Het
Vmn2r33	A	T	7: 7,566,862 (GRCm39)	D83E	probably benign	Het
Vps13b	G	A	15: 35,880,059 (GRCm39)	V3045I	probably benign	Het
Wdr25	A	T	12: 108,976,983 (GRCm39)		probably null	Het
Xpo6	A	G	7: 125,719,616 (GRCm39)	V591A	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
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
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'- GAACTGGGTCCCATGGATG -3'
(R):5'- GTGGGCGGAGTCAGATGC -3'

Sequencing Primer
(F):5'- CAGGCTTGGAATGGTACGG -3'
(R):5'- TCAGATGCAGAATCCCTGAGCTG -3'

Posted On

2020-09-15