Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02111:Cpne7'

280174

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpne7

Ensembl Gene

ENSMUSG00000034796

Gene Name

copine VII

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02111

Quality Score

Status

Chromosome

Chromosomal Location

123844113-123861921 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 123852392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

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

AlphaFold

Q0VE82

Predicted Effect

probably benign
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

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

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	G	A	8: 95,761,627 (GRCm39)	R130Q	probably damaging	Het
Adipor2	A	T	6: 119,347,157 (GRCm39)	L42*	probably null	Het
Ankrd45	A	G	1: 160,990,921 (GRCm39)	K259E	probably damaging	Het
Apoc3	T	C	9: 46,145,772 (GRCm39)	K79R	possibly damaging	Het
Arhgap40	T	C	2: 158,381,764 (GRCm39)	Y416H	probably damaging	Het
Armc5	A	G	7: 127,843,255 (GRCm39)	T683A	probably benign	Het
Bora	T	C	14: 99,284,813 (GRCm39)	V21A	probably damaging	Het
Cacna1b	C	T	2: 24,497,003 (GRCm39)	S2189N	probably damaging	Het
Cct2	G	A	10: 116,889,017 (GRCm39)	T57I	probably damaging	Het
Cd200r1	A	T	16: 44,609,144 (GRCm39)	N34Y	probably damaging	Het
Cd300ld2	T	A	11: 114,903,219 (GRCm39)		probably benign	Het
Cntnap5a	G	A	1: 116,017,082 (GRCm39)	R225H	probably benign	Het
Cntnap5c	A	T	17: 58,409,103 (GRCm39)	D447V	probably damaging	Het
Dap3	G	A	3: 88,836,725 (GRCm39)	T92I	probably benign	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Egfem1	G	A	3: 29,705,045 (GRCm39)		probably null	Het
Fam120b	T	C	17: 15,622,847 (GRCm39)	L275P	possibly damaging	Het
Fam161a	A	T	11: 22,970,026 (GRCm39)	H68L	probably benign	Het
Fam193a	A	G	5: 34,568,001 (GRCm39)	E100G	possibly damaging	Het
Ftmt	A	T	18: 52,465,125 (GRCm39)	D147V	possibly damaging	Het
Gm10136	T	C	19: 28,981,122 (GRCm39)	K41E	probably benign	Het
Gm10797	C	T	10: 67,408,397 (GRCm39)		noncoding transcript	Het
Hsf1	A	G	15: 76,380,281 (GRCm39)		probably benign	Het
Ipo8	A	G	6: 148,701,278 (GRCm39)	V514A	probably damaging	Het
Itfg2	T	C	6: 128,387,344 (GRCm39)	H422R	probably benign	Het
Lrp4	G	T	2: 91,336,404 (GRCm39)	L1738F	probably damaging	Het
Matcap2	T	C	9: 22,335,475 (GRCm39)	I31T	probably benign	Het
Mettl17	A	G	14: 52,128,843 (GRCm39)	E371G	probably damaging	Het
Mfsd6	A	T	1: 52,747,503 (GRCm39)	L454Q	probably damaging	Het
Myh10	A	T	11: 68,680,938 (GRCm39)	E956V	probably damaging	Het
Ncoa1	A	T	12: 4,324,944 (GRCm39)	M1K	probably null	Het
Or2d3c	A	C	7: 106,525,823 (GRCm39)	V281G	probably damaging	Het
Or52e4	A	G	7: 104,706,152 (GRCm39)	D233G	probably benign	Het
Or5d36	T	A	2: 87,901,571 (GRCm39)	N52Y	probably benign	Het
Otop1	T	A	5: 38,435,045 (GRCm39)	C89S	probably benign	Het
Pitrm1	G	T	13: 6,623,181 (GRCm39)	R775L	probably benign	Het
Prpf19	A	G	19: 10,882,458 (GRCm39)	T512A	probably benign	Het
Prpf4b	T	A	13: 35,067,944 (GRCm39)	S258T	probably benign	Het
Rhbdl2	T	C	4: 123,716,630 (GRCm39)	Y196H	probably damaging	Het
Rnf187	T	C	11: 58,828,006 (GRCm39)	D148G	probably damaging	Het
Sbds	A	G	5: 130,279,782 (GRCm39)	I74T	probably damaging	Het
Sec63	T	C	10: 42,686,884 (GRCm39)	V468A	probably damaging	Het
Slc35b3	A	T	13: 39,139,758 (GRCm39)	M23K	probably damaging	Het
Slc6a9	A	T	4: 117,721,210 (GRCm39)	Y208F	probably benign	Het
Slfn8	A	T	11: 82,895,324 (GRCm39)	L494Q	probably damaging	Het
Sorcs1	T	G	19: 50,218,683 (GRCm39)	M600L	probably benign	Het
Supt7l	T	C	5: 31,673,022 (GRCm39)		probably null	Het
Tecrl	T	A	5: 83,502,639 (GRCm39)	Q70L	probably damaging	Het
Tedc2	A	T	17: 24,437,140 (GRCm39)		probably benign	Het
Tespa1	A	G	10: 130,191,353 (GRCm39)	D99G	probably damaging	Het
Tmem126b	G	T	7: 90,118,269 (GRCm39)	Q204K	probably damaging	Het
Tmem181c-ps	A	T	17: 6,887,766 (GRCm39)		noncoding transcript	Het
Tmem184a	G	T	5: 139,798,856 (GRCm39)	T31K	possibly damaging	Het
Tmprss11e	T	A	5: 86,867,660 (GRCm39)	I137F	possibly damaging	Het
Tmprss13	C	T	9: 45,247,403 (GRCm39)	T255I	probably damaging	Het
Top1mt	G	A	15: 75,537,555 (GRCm39)		probably benign	Het
Treh	C	T	9: 44,594,258 (GRCm39)	T168I	probably benign	Het
Ttn	A	T	2: 76,597,672 (GRCm39)	I11420N	probably benign	Het
Zp2	T	C	7: 119,731,641 (GRCm39)	K705E	possibly damaging	Het
Zw10	T	C	9: 48,980,054 (GRCm39)	I395T	probably damaging	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
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
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

Posted On

2015-04-16