Mutagenetix > Incidental Mutation

Incidental Mutation 'R8432:Cpne3'

653791

Institutional Source

Beutler Lab

Gene Symbol

Cpne3

Ensembl Gene

ENSMUSG00000028228

Gene Name

copine III

Synonyms

5430428M23Rik, CPN3, PRO1071, 5730450C07Rik

MMRRC Submission

067882-MU

Accession Numbers

Essential gene?

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

Stock #

R8432 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19519254-19570108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19535227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 268 (S268R)

Ref Sequence

ENSEMBL: ENSMUSP00000029885 (fasta)

Gene Model

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

AlphaFold

Q8BT60

Predicted Effect

probably benign
Transcript: ENSMUST00000029885
AA Change: S268R

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: S268R

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: 98.8%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	A	G	9: 122,197,317 (GRCm39)	Y168C	probably damaging	Het
Agbl1	A	C	7: 76,774,434 (GRCm39)	R1119S	unknown	Het
Agpat5	A	T	8: 18,896,777 (GRCm39)	N68Y	probably benign	Het
Ap4b1	G	A	3: 103,728,135 (GRCm39)	R551Q	probably benign	Het
Arhgef28	T	C	13: 98,088,091 (GRCm39)	I1122V	probably benign	Het
Arhgef40	T	A	14: 52,226,857 (GRCm39)	D300E	probably benign	Het
Atxn7	T	C	14: 14,013,635 (GRCm38)	V112A	probably benign	Het
AY358078	T	A	14: 52,059,635 (GRCm39)	L324H	unknown	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bnip5	C	T	17: 29,118,545 (GRCm39)	R629H	probably benign	Het
Cacng2	A	G	15: 77,897,522 (GRCm39)	Y96H	probably damaging	Het
Cd2ap	A	T	17: 43,109,484 (GRCm39)		probably null	Het
Cdh5	A	T	8: 104,839,698 (GRCm39)	E56D	probably damaging	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Cubn	T	A	2: 13,386,610 (GRCm39)	I1552F	probably benign	Het
Dhrs7	G	A	12: 72,711,581 (GRCm39)		probably benign	Het
Dnah7a	G	C	1: 53,657,195 (GRCm39)	I860M	possibly damaging	Het
Dync1h1	A	T	12: 110,584,576 (GRCm39)	M660L	probably benign	Het
Ecd	T	A	14: 20,370,998 (GRCm39)	T574S	probably benign	Het
Efna5	A	G	17: 62,958,017 (GRCm39)	Y80H	probably damaging	Het
Ercc5	A	T	1: 44,206,841 (GRCm39)	K585*	probably null	Het
Erich4	A	G	7: 25,314,533 (GRCm39)	S127P	probably benign	Het
Gckr	A	T	5: 31,466,447 (GRCm39)	Q474L	possibly damaging	Het
Gid8	A	G	2: 180,356,654 (GRCm39)	N97S	probably benign	Het
Gm28042	G	T	2: 119,869,077 (GRCm39)	C557F	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Gzf1	A	G	2: 148,532,115 (GRCm39)	T581A	probably benign	Het
Heatr5b	A	T	17: 79,110,930 (GRCm39)	Y973N	probably damaging	Het
Herc2	A	G	7: 55,804,860 (GRCm39)	E2296G	probably benign	Het
Hydin	A	T	8: 111,324,583 (GRCm39)	N4648I	probably benign	Het
Mlip	A	T	9: 77,098,011 (GRCm39)	D157E	possibly damaging	Het
Mrpl19	A	G	6: 81,939,136 (GRCm39)	V222A	probably damaging	Het
Myo18b	A	G	5: 112,912,378 (GRCm39)	V1896A	probably benign	Het
Myo9a	G	A	9: 59,687,548 (GRCm39)	V218M	probably damaging	Het
Nepn	A	T	10: 52,267,880 (GRCm39)	T49S	probably benign	Het
Nsd1	T	G	13: 55,395,516 (GRCm39)	M1142R	possibly damaging	Het
Or52e8	T	G	7: 104,625,199 (GRCm39)	T2P	probably benign	Het
Or8b40	A	G	9: 38,027,272 (GRCm39)	Y65C	probably damaging	Het
Otulinl	A	T	15: 27,664,818 (GRCm39)	M46K	possibly damaging	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Pgm2l1	A	G	7: 99,909,260 (GRCm39)	D242G	possibly damaging	Het
Pkdrej	T	G	15: 85,701,494 (GRCm39)	I1481L	probably benign	Het
Prkag1	T	C	15: 98,713,425 (GRCm39)	I87V	possibly damaging	Het
Psma1	A	T	7: 113,873,080 (GRCm39)	I74N	probably damaging	Het
Rap1gds1	T	C	3: 138,647,548 (GRCm39)	S547G	probably damaging	Het
Rbm19	T	G	5: 120,313,991 (GRCm39)	F868V	probably damaging	Het
Riok1	T	C	13: 38,221,468 (GRCm39)	V11A	probably benign	Het
Smpd3	T	A	8: 106,984,309 (GRCm39)		probably null	Het
Taar3	A	T	10: 23,826,053 (GRCm39)	I200L	probably benign	Het
Taf12	A	G	4: 132,019,228 (GRCm39)	Y139C	probably damaging	Het
Taf15	AGAAGTGGAGGCTACGGTGGAGACCGAAGTGG	AGAAGTGG	11: 83,395,851 (GRCm39)		probably benign	Het
Tc2n	A	T	12: 101,615,363 (GRCm39)	N487K	probably benign	Het
Tex15	A	C	8: 34,066,572 (GRCm39)	I2001L	probably damaging	Het
Tmem168	A	G	6: 13,602,535 (GRCm39)	F277S	probably benign	Het
Trim67	TGCCGCCGCCGCCGC	TGCCGCCGCCGC	8: 125,520,801 (GRCm39)		probably benign	Het
Tspan1	G	T	4: 116,021,151 (GRCm39)	Q116K	probably benign	Het
Ttc24	G	A	3: 87,977,366 (GRCm39)	R325C	probably benign	Het
Ttn	C	T	2: 76,693,900 (GRCm39)	E323K		Het
Xirp2	A	T	2: 67,340,962 (GRCm39)	M1068L	probably benign	Het
Zbtb38	A	C	9: 96,568,291 (GRCm39)	M931R	possibly damaging	Het
Zfp931	A	G	2: 177,711,346 (GRCm39)	*65Q	probably null	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
R7948:Cpne3	UTSW	4	19,528,186 (GRCm39)	critical splice donor site	probably null
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
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'- AGCCAGAATTGATGTACTTAGTCAG -3'
(R):5'- TGGCCCTAGGATTGGACTTC -3'

Sequencing Primer
(F):5'- TGCAGACACGTGCATGTAC -3'
(R):5'- CCTAGGATTGGACTTCATGTATTTC -3'

Posted On

2020-10-20