Mutagenetix > Incidental Mutation

Incidental Mutation 'R8978:Cpne7'

683571

Institutional Source

Beutler Lab

Gene Symbol

Cpne7

Ensembl Gene

ENSMUSG00000034796

Gene Name

copine VII

Synonyms

MMRRC Submission

068811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8978 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123844113-123861921 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 123861177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042159 (fasta)

Gene Model

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

AlphaFold

Q0VE82

Predicted Effect

probably null
Transcript: ENSMUST00000037900

SMART Domains

Protein: ENSMUSP00000042159
Gene: ENSMUSG00000034796

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: 99.4%
20x: 97.8%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,192,395 (GRCm39)	F224L	probably benign	Het
Adam39	A	G	8: 41,278,707 (GRCm39)	D366G	probably damaging	Het
Adamts14	T	A	10: 61,038,795 (GRCm39)	E902V	probably damaging	Het
Adamts6	T	C	13: 104,512,247 (GRCm39)	C490R	probably damaging	Het
Btbd3	T	C	2: 138,126,055 (GRCm39)	V413A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cdadc1	G	T	14: 59,813,197 (GRCm39)	N403K	probably damaging	Het
Cdc27	C	T	11: 104,399,211 (GRCm39)	V734I	possibly damaging	Het
Celf3	A	G	3: 94,392,667 (GRCm39)	D122G	probably benign	Het
Chgb	T	C	2: 132,634,498 (GRCm39)	S147P	probably benign	Het
Col9a1	G	A	1: 24,278,396 (GRCm39)	G808D	probably damaging	Het
Crhr1	T	C	11: 104,064,480 (GRCm39)	F330S	possibly damaging	Het
Csmd1	A	C	8: 15,971,056 (GRCm39)	N3086K	probably benign	Het
Ctnnb1	A	G	9: 120,786,650 (GRCm39)	D624G	probably damaging	Het
Dcaf8	G	A	1: 172,022,124 (GRCm39)	R554H	probably benign	Het
Dmbt1	T	C	7: 130,639,611 (GRCm39)	Y50H	possibly damaging	Het
Dmxl1	T	C	18: 50,055,679 (GRCm39)	L2573P	probably benign	Het
Ebf2	G	A	14: 67,661,548 (GRCm39)	G559S	probably benign	Het
Fancd2	A	G	6: 113,562,507 (GRCm39)		probably benign	Het
Fkbp10	A	T	11: 100,313,936 (GRCm39)	I427F	probably benign	Het
Gipc1	T	C	8: 84,389,046 (GRCm39)		probably null	Het
Gm1110	A	T	9: 26,807,095 (GRCm39)		probably benign	Het
Gsdmc3	A	G	15: 63,731,455 (GRCm39)	L359P	probably damaging	Het
Hspg2	A	G	4: 137,291,341 (GRCm39)	D3897G	probably benign	Het
Ift122	T	A	6: 115,902,769 (GRCm39)	M1117K	possibly damaging	Het
Itgbl1	A	T	14: 124,209,617 (GRCm39)	D456V	probably damaging	Het
Itprid2	T	A	2: 79,491,257 (GRCm39)	L1014Q	probably damaging	Het
Kctd1	G	T	18: 15,119,491 (GRCm39)	L675I		Het
Kyat3	C	T	3: 142,443,596 (GRCm39)	T403M	probably benign	Het
Ltbp2	T	C	12: 84,834,164 (GRCm39)	T1442A	probably benign	Het
Mier2	A	C	10: 79,376,790 (GRCm39)	S45R	unknown	Het
Mon2	T	A	10: 122,871,469 (GRCm39)	K383*	probably null	Het
Mroh4	G	T	15: 74,499,473 (GRCm39)	T136K	probably benign	Het
Mtif3	A	T	5: 146,895,846 (GRCm39)	S80R	probably benign	Het
Myh2	A	C	11: 67,068,188 (GRCm39)	E272A	probably damaging	Het
Myh2	A	G	11: 67,080,323 (GRCm39)	Q1179R	probably damaging	Het
Nfatc3	G	A	8: 106,835,402 (GRCm39)	C916Y	probably benign	Het
Or13a17	A	T	7: 140,271,642 (GRCm39)	T275S	probably benign	Het
Or2w2	T	A	13: 21,758,279 (GRCm39)	T116S	probably benign	Het
Or7g21	T	A	9: 19,032,582 (GRCm39)	C107*	probably null	Het
Orc2	T	C	1: 58,511,499 (GRCm39)	D370G	possibly damaging	Het
Pate7	A	T	9: 35,688,069 (GRCm39)		probably benign	Het
Pcdhga6	T	A	18: 37,840,716 (GRCm39)	N145K	probably benign	Het
Pih1d2	A	G	9: 50,536,232 (GRCm39)	M296V	probably benign	Het
Prickle4	A	T	17: 47,999,772 (GRCm39)		probably benign	Het
Rabl6	G	A	2: 25,477,541 (GRCm39)	P303L	probably damaging	Het
Rara	T	G	11: 98,862,595 (GRCm39)	I332S	probably damaging	Het
Reln	A	G	5: 22,090,512 (GRCm39)	F3449L	possibly damaging	Het
Rhoq	T	C	17: 87,271,767 (GRCm39)	L61P		Het
Rigi	A	G	4: 40,239,650 (GRCm39)	I16T	probably damaging	Het
Slc6a15	G	A	10: 103,230,953 (GRCm39)	W226*	probably null	Het
Spef2	A	T	15: 9,725,263 (GRCm39)	S165T	possibly damaging	Het
Stab2	T	C	10: 86,785,782 (GRCm39)	N620S	possibly damaging	Het
Suds3	A	G	5: 117,232,973 (GRCm39)		probably null	Het
Sult1b1	A	G	5: 87,682,900 (GRCm39)	I15T	possibly damaging	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tgfbi	C	A	13: 56,778,391 (GRCm39)	D387E	probably benign	Het
Thrb	T	C	14: 17,981,886 (GRCm38)	C4R	possibly damaging	Het
Tk2	A	G	8: 104,957,809 (GRCm39)	V179A	possibly damaging	Het
Trim25	T	C	11: 88,907,027 (GRCm39)	V462A	probably benign	Het
Tub	T	C	7: 108,629,393 (GRCm39)	Y483H	probably damaging	Het
Vav1	A	G	17: 57,603,710 (GRCm39)	T131A	probably benign	Het
Vav1	A	G	17: 57,631,650 (GRCm39)	T781A	probably benign	Het
Zbtb34	A	G	2: 33,301,048 (GRCm39)	S498P	possibly damaging	Het
Zfp568	T	A	7: 29,716,683 (GRCm39)	H194Q	probably benign	Het
Zfp683	A	T	4: 133,781,239 (GRCm39)	Q18L	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
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
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'- CGCATTGCAGGTTTTCATGAG -3'
(R):5'- TAGATGGACGGACGTACTGC -3'

Sequencing Primer
(F):5'- GACAGTTGTAGGCACTTCCATCAG -3'
(R):5'- ACGGACGTACTGCTCCCTC -3'

Posted On

2021-10-11