Mutagenetix > Incidental Mutation

Incidental Mutation 'R9084:Cpne7'

690464

Institutional Source

Beutler Lab

Gene Symbol

Cpne7

Ensembl Gene

ENSMUSG00000034796

Gene Name

copine VII

Synonyms

MMRRC Submission

068903-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123844113-123861921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123856951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 402 (P402L)

Ref Sequence

ENSEMBL: ENSMUSP00000042159 (fasta)

Gene Model

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

AlphaFold

Q0VE82

Predicted Effect

probably damaging
Transcript: ENSMUST00000037900
AA Change: P402L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042159
Gene: ENSMUSG00000034796
AA Change: P402L

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% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,892,016 (GRCm39)	K93E	probably damaging	Het
Adam21	T	C	12: 81,606,160 (GRCm39)	Y534C	probably damaging	Het
Add1	A	G	5: 34,763,186 (GRCm39)	T125A	probably damaging	Het
Ank3	T	C	10: 69,786,879 (GRCm39)	V981A	probably benign	Het
Ankrd34b	T	A	13: 92,575,720 (GRCm39)	D317E	probably benign	Het
Arhgap9	T	C	10: 127,158,114 (GRCm39)	S44P	possibly damaging	Het
Atg7	T	C	6: 114,678,896 (GRCm39)	S370P	probably damaging	Het
Atp1b2	T	C	11: 69,492,388 (GRCm39)	D224G	probably damaging	Het
C1qtnf6	T	C	15: 78,409,283 (GRCm39)	Y188C	probably damaging	Het
Col22a1	T	C	15: 71,691,929 (GRCm39)	D1297G	unknown	Het
Csmd1	T	C	8: 16,138,325 (GRCm39)	I1576V	probably benign	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dusp6	T	C	10: 99,099,692 (GRCm39)	S47P	probably benign	Het
Fam163a	T	A	1: 155,955,730 (GRCm39)	I21F	probably damaging	Het
Fer1l5	A	G	1: 36,429,619 (GRCm39)	D457G	probably benign	Het
Fyn	C	T	10: 39,402,845 (GRCm39)	R206C	probably damaging	Het
Git2	G	T	5: 114,902,515 (GRCm39)	H172Q	probably damaging	Het
Gm21698	T	A	5: 26,190,244 (GRCm39)	H151L	probably damaging	Het
Gm4924	T	A	10: 82,213,953 (GRCm39)	C584S	unknown	Het
Hspb8	A	G	5: 116,560,492 (GRCm39)	L16P	probably benign	Het
Ipo9	T	C	1: 135,334,563 (GRCm39)	H282R	probably benign	Het
Kcnn1	GTCCTCCTCCTCCTCCTCCTC	GTCCTCCTCCTCCTCCTC	8: 71,307,810 (GRCm39)		probably benign	Het
Kmt2a	T	C	9: 44,740,130 (GRCm39)	D1871G	unknown	Het
Lrrk2	A	T	15: 91,634,469 (GRCm39)	Q1411L		Het
Med13	A	G	11: 86,191,621 (GRCm39)	S914P	probably damaging	Het
Med15	T	C	16: 17,471,072 (GRCm39)	H706R	probably damaging	Het
Mfsd2a	T	C	4: 122,843,994 (GRCm39)	Y325C	probably damaging	Het
Mrpl9	T	A	3: 94,354,558 (GRCm39)		probably benign	Het
Ncoa2	A	C	1: 13,244,653 (GRCm39)	S682A	probably damaging	Het
Nfe2l1	A	T	11: 96,710,957 (GRCm39)	M424K	probably damaging	Het
Nid1	T	C	13: 13,652,925 (GRCm39)		probably null	Het
Or1f19	T	G	16: 3,410,617 (GRCm39)	M119R	probably damaging	Het
Or4f7	A	G	2: 111,644,996 (GRCm39)	L25P	probably damaging	Het
Or4k15b	T	C	14: 50,271,916 (GRCm39)	I315V	probably benign	Het
Or6c69c	A	T	10: 129,910,941 (GRCm39)	M221L	probably benign	Het
Or6c69c	G	C	10: 129,910,969 (GRCm39)	S230T	probably benign	Het
Or6d15	C	T	6: 116,559,232 (GRCm39)	R225H	probably benign	Het
Or8g33	A	T	9: 39,337,521 (GRCm39)	V282E	probably damaging	Het
Pcnt	T	C	10: 76,235,826 (GRCm39)	D1385G	probably benign	Het
Pcx	A	G	19: 4,669,868 (GRCm39)	Y846C	probably damaging	Het
Prune2	A	G	19: 17,097,741 (GRCm39)	M1082V	probably damaging	Het
Ptprm	A	C	17: 67,263,948 (GRCm39)	V433G	possibly damaging	Het
Pvr	G	T	7: 19,650,937 (GRCm39)	Q196K	possibly damaging	Het
Reck	A	G	4: 43,922,809 (GRCm39)		probably benign	Het
Ripk2	T	C	4: 16,123,795 (GRCm39)	D460G	probably damaging	Het
Ryr2	T	C	13: 11,616,724 (GRCm39)	D3898G	probably damaging	Het
Skint8	A	G	4: 111,794,210 (GRCm39)	H200R	probably benign	Het
Slamf1	A	T	1: 171,602,522 (GRCm39)	D83V	probably damaging	Het
Snx25	T	C	8: 46,521,203 (GRCm39)	*143W	probably null	Het
Spata31d1c	A	G	13: 65,182,959 (GRCm39)	D167G	probably benign	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Syne1	T	A	10: 5,289,240 (GRCm39)	D1420V	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tmem116	A	G	5: 121,627,387 (GRCm39)	S211G		Het
Tmprss6	C	T	15: 78,338,417 (GRCm39)	V310M	probably damaging	Het
Ttn	A	G	2: 76,612,722 (GRCm39)	I17119T	probably damaging	Het
Tubb1	T	A	2: 174,299,197 (GRCm39)	M293K	possibly damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Uncx	T	C	5: 139,529,753 (GRCm39)	M2T	possibly damaging	Het
Washc4	T	C	10: 83,422,499 (GRCm39)	F943L	possibly damaging	Het
Xkr9	G	A	1: 13,742,733 (GRCm39)	C6Y	probably benign	Het
Zfp458	A	T	13: 67,407,633 (GRCm39)	V74E	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
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
R9443:Cpne7	UTSW	8	123,853,411 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACCAGCTTCTCCCAGTAAGG -3'
(R):5'- AACTGCTTCATCACGACTACAG -3'

Sequencing Primer
(F):5'- CTGGGAAAGTCCTGTCTGACTC -3'
(R):5'- TGCTTCATCACGACTACAGACACAG -3'

Posted On

2021-12-30