Mutagenetix > Incidental Mutation

Incidental Mutation 'R7948:Cpne3'

615963

Institutional Source

Beutler Lab

Gene Symbol

Cpne3

Ensembl Gene

ENSMUSG00000028228

Gene Name

copine III

Synonyms

5430428M23Rik, CPN3, PRO1071, 5730450C07Rik

MMRRC Submission

045993-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R7948 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19519254-19570108 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 19528186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029885]

AlphaFold

Q8BT60

Predicted Effect

probably null
Transcript: ENSMUST00000029885

SMART Domains

Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228

Domain	Start	End	E-Value	Type
C2	7	114	1.06e-10	SMART
C2	139	245	9.53e-13	SMART
low complexity region	253	262	N/A	INTRINSIC
VWA	289	495	7.54e-18	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	CGGTCTAGCTGAGCAGGAGGCAGCTCAGG	CGG	14: 70,394,815 (GRCm39)		probably null	Het
Abca8a	A	T	11: 109,941,805 (GRCm39)	Y1155N	probably benign	Het
Adcy8	C	T	15: 64,687,199 (GRCm39)	R435K	possibly damaging	Het
Adgrv1	C	A	13: 81,707,648 (GRCm39)	V1253F	probably damaging	Het
Adgrv1	T	C	13: 81,707,707 (GRCm39)	D1233G	probably damaging	Het
Baz2a	G	A	10: 127,961,194 (GRCm39)	R1639H	possibly damaging	Het
Ccdc125	A	G	13: 100,832,910 (GRCm39)	T496A	probably benign	Het
Cntnap5a	A	G	1: 116,508,258 (GRCm39)	M1257V	probably benign	Het
Cts3	T	C	13: 61,713,863 (GRCm39)	E288G	probably benign	Het
Deup1	T	C	9: 15,521,944 (GRCm39)	K74E	possibly damaging	Het
Epn1	T	A	7: 5,092,992 (GRCm39)	Y101*	probably null	Het
Ercc4	A	G	16: 12,948,049 (GRCm39)	D422G	probably benign	Het
Exoc6	A	C	19: 37,565,422 (GRCm39)	N166T	probably benign	Het
Fam89a	T	C	8: 125,478,409 (GRCm39)	Y47C	probably damaging	Het
Fbn1	C	A	2: 125,183,219 (GRCm39)	Q1753H	probably damaging	Het
Gal3st4	C	T	5: 138,269,262 (GRCm39)	R66Q	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Golm1	C	A	13: 59,812,011 (GRCm39)		probably null	Het
Gtpbp3	A	G	8: 71,945,230 (GRCm39)	H434R	probably damaging	Het
Hbegf	A	G	18: 36,639,752 (GRCm39)	L194S	possibly damaging	Het
Igsf10	A	G	3: 59,239,279 (GRCm39)	S301P	probably benign	Het
Il9r	A	C	11: 32,144,486 (GRCm39)	C106W	probably damaging	Het
Lama5	T	C	2: 179,843,994 (GRCm39)	D389G	probably damaging	Het
Lyst	T	A	13: 13,921,174 (GRCm39)	D3373E	possibly damaging	Het
Mkrn1	T	A	6: 39,377,344 (GRCm39)	Y361F	probably benign	Het
Mtrex	C	T	13: 113,058,296 (GRCm39)	R45Q	probably benign	Het
Muc16	A	T	9: 18,553,786 (GRCm39)	I4169N	unknown	Het
Myo7a	C	T	7: 97,724,236 (GRCm39)	G1150S	probably damaging	Het
Myom2	A	G	8: 15,135,306 (GRCm39)	D503G	probably benign	Het
Nmnat3	A	G	9: 98,281,535 (GRCm39)	I46V	probably benign	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Nrros	A	T	16: 31,981,076 (GRCm39)	N17K	unknown	Het
Or51a39	C	T	7: 102,362,895 (GRCm39)	V242I	probably benign	Het
Patj	A	T	4: 98,312,547 (GRCm39)	K295M	probably damaging	Het
Pax6	A	G	2: 105,516,222 (GRCm39)	T167A	probably benign	Het
Pclo	T	A	5: 14,815,180 (GRCm39)	L1212*	probably null	Het
Peg3	T	A	7: 6,711,781 (GRCm39)	Y1147F	probably damaging	Het
Ppp2r5c	T	A	12: 110,432,420 (GRCm39)	N77K	probably benign	Het
Prickle2	T	C	6: 92,393,903 (GRCm39)	I257V	possibly damaging	Het
Ptprc	G	A	1: 137,992,314 (GRCm39)	T1132I	probably benign	Het
Serpinb6a	G	A	13: 34,107,003 (GRCm39)	S183L	probably benign	Het
Slc6a15	T	A	10: 103,240,156 (GRCm39)	M293K	possibly damaging	Het
Tmem131	A	T	1: 36,833,229 (GRCm39)	W1749R	probably damaging	Het
Trpm8	T	A	1: 88,302,091 (GRCm39)	Y1020*	probably null	Het
Ttn	G	T	2: 76,598,523 (GRCm39)	Y19463*	probably null	Het
Tubgcp5	T	A	7: 55,443,996 (GRCm39)	D18E	probably benign	Het
Ubtd1	T	A	19: 42,022,174 (GRCm39)	F149I	probably benign	Het
Xirp2	A	G	2: 67,349,658 (GRCm39)	K3279R	possibly damaging	Het
Zfp236	T	C	18: 82,642,540 (GRCm39)	T1117A	probably damaging	Het
Zfp945	A	T	17: 23,071,096 (GRCm39)	C289S	unknown	Het

Other mutations in Cpne3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Cpne3	APN	4	19,543,318 (GRCm39)	missense	probably damaging	1.00
IGL01325:Cpne3	APN	4	19,535,229 (GRCm39)	missense	probably benign	0.00
IGL01467:Cpne3	APN	4	19,553,737 (GRCm39)	missense	probably benign
IGL02043:Cpne3	APN	4	19,543,340 (GRCm39)	splice site	probably null
IGL02992:Cpne3	APN	4	19,532,486 (GRCm39)	missense	probably benign
IGL03330:Cpne3	APN	4	19,553,774 (GRCm39)	missense	possibly damaging	0.63
LCD18:Cpne3	UTSW	4	19,563,382 (GRCm39)	intron	probably benign
R0507:Cpne3	UTSW	4	19,532,544 (GRCm39)	splice site	probably benign
R0652:Cpne3	UTSW	4	19,532,486 (GRCm39)	missense	probably benign
R1499:Cpne3	UTSW	4	19,526,336 (GRCm39)	missense	probably damaging	1.00
R1881:Cpne3	UTSW	4	19,535,266 (GRCm39)	missense	probably benign	0.03
R2007:Cpne3	UTSW	4	19,553,833 (GRCm39)	missense	probably damaging	1.00
R2147:Cpne3	UTSW	4	19,536,562 (GRCm39)	missense	probably benign
R2507:Cpne3	UTSW	4	19,553,871 (GRCm39)	missense	probably damaging	1.00
R4525:Cpne3	UTSW	4	19,523,206 (GRCm39)	missense	probably damaging	1.00
R4880:Cpne3	UTSW	4	19,540,827 (GRCm39)	missense	probably benign
R5219:Cpne3	UTSW	4	19,526,366 (GRCm39)	missense	probably damaging	1.00
R5518:Cpne3	UTSW	4	19,553,779 (GRCm39)	missense	probably benign	0.10
R5883:Cpne3	UTSW	4	19,552,314 (GRCm39)	missense	possibly damaging	0.67
R6850:Cpne3	UTSW	4	19,535,231 (GRCm39)	missense	possibly damaging	0.91
R6979:Cpne3	UTSW	4	19,533,098 (GRCm39)	missense	probably benign	0.01
R7395:Cpne3	UTSW	4	19,528,239 (GRCm39)	missense	probably damaging	0.96
R8002:Cpne3	UTSW	4	19,528,232 (GRCm39)	missense	probably damaging	0.99
R8056:Cpne3	UTSW	4	19,532,426 (GRCm39)	missense	possibly damaging	0.60
R8099:Cpne3	UTSW	4	19,525,169 (GRCm39)	missense	possibly damaging	0.61
R8431:Cpne3	UTSW	4	19,526,316 (GRCm39)	missense	probably damaging	0.98
R8432:Cpne3	UTSW	4	19,535,227 (GRCm39)	missense	probably benign	0.26
R9029:Cpne3	UTSW	4	19,535,292 (GRCm39)	missense	possibly damaging	0.66
R9039:Cpne3	UTSW	4	19,540,770 (GRCm39)	missense	probably damaging	0.99
R9421:Cpne3	UTSW	4	19,536,561 (GRCm39)	missense	probably benign	0.33
R9425:Cpne3	UTSW	4	19,525,148 (GRCm39)	missense	probably damaging	1.00
R9604:Cpne3	UTSW	4	19,555,477 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACTGCAGTTCTAACCTGCAAG -3'
(R):5'- TGAGTTTTCCAGTGTTAGCATCGAC -3'

Sequencing Primer
(F):5'- TGCAGTTCTAACCTGCAAGAAAAAG -3'
(R):5'- CCAGTGTTAGCATCGACATTTAG -3'

Posted On

2020-01-23