Mutagenetix > Incidental Mutation

Incidental Mutation 'R8056:Cpne3'

619357

Institutional Source

Beutler Lab

Gene Symbol

Cpne3

Ensembl Gene

ENSMUSG00000028228

Gene Name

copine III

Synonyms

5430428M23Rik, CPN3, PRO1071, 5730450C07Rik

MMRRC Submission

067493-MU

Accession Numbers

Essential gene?

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

Stock #

R8056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19519254-19570108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19532426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 329 (V329A)

Ref Sequence

ENSEMBL: ENSMUSP00000029885 (fasta)

Gene Model

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

AlphaFold

Q8BT60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029885
AA Change: V329A

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: V329A

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

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	C	11: 48,910,909 (GRCm39)	E508G	probably benign	Het
Acsl3	C	T	1: 78,659,611 (GRCm39)	L88F	probably damaging	Het
Adamtsl1	C	T	4: 86,260,269 (GRCm39)	P835S	possibly damaging	Het
Agrn	A	G	4: 156,254,868 (GRCm39)	V1616A	probably benign	Het
Bmerb1	T	A	16: 13,856,180 (GRCm39)		probably benign	Het
Brca2	T	C	5: 150,492,771 (GRCm39)	V3262A	possibly damaging	Het
Bsn	T	C	9: 107,982,506 (GRCm39)	D977G		Het
Cic	G	T	7: 24,990,366 (GRCm39)	A1956S	possibly damaging	Het
Clip4	C	A	17: 72,110,587 (GRCm39)	T189K	probably damaging	Het
Col12a1	T	C	9: 79,507,220 (GRCm39)	E279G		Het
Col24a1	A	C	3: 145,019,925 (GRCm39)	I99L	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,030 (GRCm39)	I204V	possibly damaging	Het
Cyp2c66	A	G	19: 39,130,485 (GRCm39)	I107V	probably benign	Het
Dennd4c	A	G	4: 86,763,213 (GRCm39)	R1840G	probably null	Het
Dhx36	A	T	3: 62,396,012 (GRCm39)	L465Q	possibly damaging	Het
Edc4	A	G	8: 106,617,116 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,799,896 (GRCm39)	T2931A	probably damaging	Het
Fam133b	A	T	5: 3,615,744 (GRCm39)	R215S	unknown	Het
Fbh1	G	A	2: 11,748,441 (GRCm39)	T985I	probably benign	Het
Fras1	A	G	5: 96,892,633 (GRCm39)	D2911G	probably damaging	Het
Gm13889	A	T	2: 93,787,020 (GRCm39)	D151E	probably damaging	Het
Gosr2	C	A	11: 103,588,530 (GRCm39)		probably benign	Het
Igkv8-26	T	A	6: 70,170,706 (GRCm39)	L99H	probably damaging	Het
Inhca	A	G	9: 103,143,423 (GRCm39)	C438R	probably damaging	Het
Kif16b	A	G	2: 142,554,762 (GRCm39)	F679L	probably damaging	Het
Kif1a	G	C	1: 92,982,423 (GRCm39)		probably benign	Het
Kif3b	G	C	2: 153,171,979 (GRCm39)	R716S	possibly damaging	Het
Lilra6	A	T	7: 3,915,551 (GRCm39)	C395S	probably damaging	Het
Lrp5	A	G	19: 3,647,337 (GRCm39)	F1302L	probably damaging	Het
Map2	T	G	1: 66,454,779 (GRCm39)	V1223G	probably damaging	Het
Mical1	T	A	10: 41,357,168 (GRCm39)	N324K	probably damaging	Het
Morc3	T	A	16: 93,642,064 (GRCm39)	H94Q	probably benign	Het
Mpped1	T	C	15: 83,720,663 (GRCm39)	V199A	possibly damaging	Het
Msx1	G	A	5: 37,981,544 (GRCm39)	T45I	probably benign	Het
Myh7	G	A	14: 55,210,776 (GRCm39)	Q1714*	probably null	Het
Narf	T	C	11: 121,136,170 (GRCm39)	V182A	possibly damaging	Het
Ncapd2	G	A	6: 125,148,006 (GRCm39)	T1107M	probably damaging	Het
Nek3	A	G	8: 22,619,359 (GRCm39)		probably null	Het
Neurog1	G	T	13: 56,399,223 (GRCm39)	P175T	probably damaging	Het
Nlrp9c	T	C	7: 26,085,112 (GRCm39)	T156A	probably damaging	Het
Or1ad1	T	A	11: 50,876,368 (GRCm39)	V280E	probably damaging	Het
Or2a20	A	T	6: 43,193,978 (GRCm39)	I44F	probably damaging	Het
Or6c3	G	A	10: 129,309,061 (GRCm39)	A167T	probably benign	Het
Orm3	A	G	4: 63,277,594 (GRCm39)	E194G	probably benign	Het
Pga5	A	C	19: 10,654,161 (GRCm39)		probably benign	Het
Pik3r2	G	T	8: 71,225,011 (GRCm39)	P151T	probably benign	Het
Pkp2	T	C	16: 16,031,264 (GRCm39)	C10R	probably benign	Het
Plxdc1	T	A	11: 97,869,343 (GRCm39)	R82W	probably damaging	Het
Polr2c	G	A	8: 95,586,895 (GRCm39)	A54T	probably benign	Het
Rab31	T	C	17: 66,024,503 (GRCm39)	I59V	probably benign	Het
Rasgrf2	T	C	13: 92,167,321 (GRCm39)	M251V	probably damaging	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rfc1	A	C	5: 65,451,436 (GRCm39)		probably benign	Het
Rhag	T	C	17: 41,139,679 (GRCm39)	I137T	probably damaging	Het
Rnf216	T	C	5: 142,978,616 (GRCm39)	M841V	probably benign	Het
Scaf11	C	A	15: 96,312,698 (GRCm39)	E1448*	probably null	Het
Septin11	T	C	5: 93,315,435 (GRCm39)	L388P	unknown	Het
Serpina1b	A	T	12: 103,784,137 (GRCm39)		probably benign	Het
Skint10	A	G	4: 112,573,010 (GRCm39)	I262T	probably benign	Het
Slc13a4	C	T	6: 35,245,887 (GRCm39)	G586E	probably damaging	Het
Slc8a1	C	T	17: 81,955,352 (GRCm39)	G562E	probably damaging	Het
Slc8b1	T	A	5: 120,658,682 (GRCm39)	L126Q	probably damaging	Het
Smg1	A	G	7: 117,759,589 (GRCm39)	Y2086H	unknown	Het
Spmip10	A	G	18: 56,727,763 (GRCm39)	N79S		Het
Taf1c	A	T	8: 120,330,202 (GRCm39)	D47E	probably benign	Het
Tbx5	A	C	5: 119,991,678 (GRCm39)	M250L	probably benign	Het
Tekt3	T	C	11: 62,974,785 (GRCm39)		probably null	Het
Topors	T	C	4: 40,262,221 (GRCm39)	I354M	probably benign	Het
Ttn	C	A	2: 76,778,574 (GRCm39)	G1309V	unknown	Het
Ttyh1	C	T	7: 4,127,622 (GRCm39)		probably benign	Het
Ubac1	A	G	2: 25,897,909 (GRCm39)	I237T	probably benign	Het
Vmn1r197	T	A	13: 22,512,388 (GRCm39)	V103D	probably damaging	Het
Zfp184	T	C	13: 22,143,008 (GRCm39)	F238S	probably damaging	Het
Zfp445	A	G	9: 122,681,032 (GRCm39)	F970L	possibly damaging	Het
Zfp90	A	T	8: 107,151,112 (GRCm39)	E275V	probably damaging	Het
Zscan12	C	G	13: 21,553,492 (GRCm39)	Q439E	probably benign	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
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'- ACTAGTTACAGCAAGATCGATGAG -3'
(R):5'- ACCTGGAAACTTTCTTGGACCTC -3'

Sequencing Primer
(F):5'- TTACAGCAAGATCGATGAGATGGAAG -3'
(R):5'- CTTGGACCTCAAGCTCAGATAGG -3'

Posted On

2020-01-23