Mutagenetix > Incidental Mutation

Incidental Mutation 'R9267:Cpne4'

702622

Institutional Source

Beutler Lab

Gene Symbol

Cpne4

Ensembl Gene

ENSMUSG00000032564

Gene Name

copine IV

Synonyms

3632411M23Rik, 4933406O10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R9267 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104443900-104911747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104884833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 343 (V343E)

Ref Sequence

ENSEMBL: ENSMUSP00000049663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057742] [ENSMUST00000077190] [ENSMUST00000213452]

AlphaFold

Q8BLR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000057742
AA Change: V343E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: V343E

Domain	Start	End	E-Value	Type
C2	24	130	4.29e-6	SMART
C2	144	261	4.22e-5	SMART
low complexity region	269	279	N/A	INTRINSIC
VWA	305	507	2.61e-12	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000077190
AA Change: V261E

SMART Domains

Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: V261E

Domain	Start	End	E-Value	Type
C2	24	130	4.29e-6	SMART
C2	144	275	1.94e1	SMART
VWA	223	425	9.73e-12	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000213452
AA Change: V94E

Meta Mutation Damage Score

0.2280

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,869,657 (GRCm39)		probably benign	Het
Abcd2	T	A	15: 91,063,423 (GRCm39)	T422S	possibly damaging	Het
Acsl3	T	G	1: 78,674,623 (GRCm39)	I390S	probably damaging	Het
Adad1	T	A	3: 37,139,074 (GRCm39)		probably benign	Het
Adam3	A	G	8: 25,171,605 (GRCm39)	V742A	probably benign	Het
Adgra3	A	T	5: 50,155,618 (GRCm39)	I450K	possibly damaging	Het
Adgrb2	T	C	4: 129,885,901 (GRCm39)	S14P	possibly damaging	Het
Arfgef3	T	A	10: 18,475,028 (GRCm39)	I1553F	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc27	A	G	4: 154,117,441 (GRCm39)	L502P	probably damaging	Het
Ccdc50	T	A	16: 27,208,700 (GRCm39)	L5Q		Het
Cdh16	C	T	8: 105,341,834 (GRCm39)	G777D	probably damaging	Het
Cntn2	C	A	1: 132,449,021 (GRCm39)	V663L	probably benign	Het
Dctpp1	A	T	7: 126,856,275 (GRCm39)	I149N	probably benign	Het
Dlg5	T	C	14: 24,204,745 (GRCm39)	N1266S	probably damaging	Het
Dst	A	G	1: 34,232,145 (GRCm39)	D3246G	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Erbin	T	C	13: 103,987,292 (GRCm39)	T423A	probably damaging	Het
Erich5	C	T	15: 34,471,563 (GRCm39)	P264L	possibly damaging	Het
Fam90a1a	A	G	8: 22,453,091 (GRCm39)	M149V	probably benign	Het
Fbxl18	C	T	5: 142,880,870 (GRCm39)	G62R	possibly damaging	Het
Fech	A	G	18: 64,591,267 (GRCm39)	S386P	possibly damaging	Het
Fhl3	T	A	4: 124,601,498 (GRCm39)		probably null	Het
Fkbp5	A	G	17: 28,629,558 (GRCm39)	S256P	probably benign	Het
Frem2	A	G	3: 53,564,504 (GRCm39)	M1T	probably null	Het
Galnt5	T	C	2: 57,925,220 (GRCm39)	F834L	possibly damaging	Het
Gm3618	G	T	14: 17,502,588 (GRCm39)	T99N	unknown	Het
Gm9195	T	A	14: 72,700,546 (GRCm39)	Q1127L	possibly damaging	Het
Gpsm1	A	G	2: 26,236,835 (GRCm39)	D643G	probably damaging	Het
Grm4	A	G	17: 27,654,183 (GRCm39)	V589A	possibly damaging	Het
Gskip	T	A	12: 105,665,052 (GRCm39)	F30L	probably benign	Het
Haus3	T	A	5: 34,311,452 (GRCm39)		probably null	Het
Heatr1	T	C	13: 12,421,489 (GRCm39)	F463S	probably damaging	Het
Hmcn1	G	A	1: 150,473,740 (GRCm39)	S4851F	probably benign	Het
Il16	A	C	7: 83,371,757 (GRCm39)	F16L	probably benign	Het
Itga1	C	A	13: 115,185,924 (GRCm39)	C26F	possibly damaging	Het
Itga6	A	G	2: 71,668,756 (GRCm39)	E565G	probably benign	Het
Itgb4	A	G	11: 115,870,465 (GRCm39)	H98R	probably benign	Het
Kidins220	T	A	12: 25,038,558 (GRCm39)	S37T	probably benign	Het
Lrrc37	A	T	11: 103,495,406 (GRCm39)	D2804E	unknown	Het
Lrrk2	C	T	15: 91,584,629 (GRCm39)	L349F	probably damaging	Het
Malrd1	T	G	2: 16,260,077 (GRCm39)	I2099S	unknown	Het
Mapk8ip1	A	G	2: 92,216,714 (GRCm39)	I492T	possibly damaging	Het
Mest	T	A	6: 30,742,141 (GRCm39)	D68E		Het
Mthfd1l	A	G	10: 3,934,154 (GRCm39)	D162G	probably benign	Het
Nalcn	A	T	14: 123,518,567 (GRCm39)	D1657E	probably benign	Het
Nbeal2	C	A	9: 110,462,115 (GRCm39)	V1475F	probably damaging	Het
Nf1	C	A	11: 79,331,716 (GRCm39)	Q684K	possibly damaging	Het
Opn5	T	A	17: 42,903,793 (GRCm39)	T181S	probably damaging	Het
Or10ag54	T	C	2: 87,099,326 (GRCm39)	L67P	possibly damaging	Het
Or1j19	A	T	2: 36,676,530 (GRCm39)		probably benign	Het
Or7a38	A	G	10: 78,752,803 (GRCm39)	N43S	probably damaging	Het
Or9s15	A	T	1: 92,524,994 (GRCm39)	H251L	probably damaging	Het
Or9s15	A	T	1: 92,524,996 (GRCm39)	M252L	probably benign	Het
Orc4	T	A	2: 48,827,534 (GRCm39)	R20*	probably null	Het
Pik3ca	T	C	3: 32,492,211 (GRCm39)	Y270H	probably damaging	Het
Pkn2	T	C	3: 142,517,676 (GRCm39)	E474G	probably null	Het
Pnma8b	A	T	7: 16,679,159 (GRCm39)	N48Y	unknown	Het
Pnpla2	A	C	7: 141,036,503 (GRCm39)		probably benign	Het
Polr1a	G	A	6: 71,942,542 (GRCm39)	M1127I	probably benign	Het
Ptpre	A	C	7: 135,274,549 (GRCm39)	D507A	probably damaging	Het
Rab3gap2	T	C	1: 184,983,331 (GRCm39)	V490A	probably damaging	Het
Rab44	A	T	17: 29,354,338 (GRCm39)		probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Ripor1	A	G	8: 106,348,063 (GRCm39)	D1146G	unknown	Het
Sh3yl1	A	T	12: 30,972,335 (GRCm39)	I35F	possibly damaging	Het
Slc22a5	A	G	11: 53,764,619 (GRCm39)	F276L	probably benign	Het
Slc8a3	T	A	12: 81,361,208 (GRCm39)	D537V	possibly damaging	Het
Smc4	T	A	3: 68,941,786 (GRCm39)	I1263N	probably damaging	Het
Snai2	A	T	16: 14,525,120 (GRCm39)	T209S	possibly damaging	Het
Stam2	A	T	2: 52,604,903 (GRCm39)	Y211N	probably damaging	Het
Stxbp1	A	G	2: 32,708,517 (GRCm39)	S83P	probably damaging	Het
Susd4	T	C	1: 182,716,389 (GRCm39)	F325L	probably benign	Het
Tmem245	A	G	4: 56,947,236 (GRCm39)	V59A	probably benign	Het
Tnk2	A	G	16: 32,494,489 (GRCm39)	D469G	probably damaging	Het
Tpx2	A	G	2: 152,732,517 (GRCm39)	D597G	probably damaging	Het
Ube2w	A	T	1: 16,612,011 (GRCm39)	S170R		Het
Vmn2r102	A	T	17: 19,896,928 (GRCm39)	I92F	probably damaging	Het
Vmn2r11	T	A	5: 109,199,929 (GRCm39)	E508V	possibly damaging	Het
Vmn2r30	T	A	7: 7,340,432 (GRCm39)	I21F	possibly damaging	Het
Yipf2	G	A	9: 21,501,489 (GRCm39)	T187M	possibly damaging	Het
Zbtb8a	T	A	4: 129,248,267 (GRCm39)	K335*	probably null	Het
Zfp609	T	C	9: 65,608,328 (GRCm39)	D1184G	possibly damaging	Het

Other mutations in Cpne4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Cpne4	APN	9	104,778,710 (GRCm39)	missense	probably damaging	1.00
IGL01871:Cpne4	APN	9	104,802,956 (GRCm39)	missense	possibly damaging	0.93
IGL02097:Cpne4	APN	9	104,563,701 (GRCm39)	missense	probably damaging	1.00
IGL02698:Cpne4	APN	9	104,909,984 (GRCm39)	missense	probably damaging	1.00
IGL02933:Cpne4	APN	9	104,896,966 (GRCm39)	missense	possibly damaging	0.64
R0471:Cpne4	UTSW	9	104,899,481 (GRCm39)	splice site	probably null
R0528:Cpne4	UTSW	9	104,563,640 (GRCm39)	missense	probably damaging	0.99
R0698:Cpne4	UTSW	9	104,802,994 (GRCm39)	missense	probably damaging	1.00
R1025:Cpne4	UTSW	9	104,871,057 (GRCm39)	missense	possibly damaging	0.64
R1054:Cpne4	UTSW	9	104,899,600 (GRCm39)	missense	probably benign	0.01
R1300:Cpne4	UTSW	9	104,870,333 (GRCm39)	missense	probably damaging	1.00
R1422:Cpne4	UTSW	9	104,777,484 (GRCm39)	missense	probably damaging	0.98
R1439:Cpne4	UTSW	9	104,866,831 (GRCm39)	missense	probably damaging	0.99
R1634:Cpne4	UTSW	9	104,866,778 (GRCm39)	missense	possibly damaging	0.94
R1777:Cpne4	UTSW	9	104,749,887 (GRCm39)	missense	probably damaging	1.00
R2992:Cpne4	UTSW	9	104,899,564 (GRCm39)	missense	probably damaging	1.00
R4094:Cpne4	UTSW	9	104,563,734 (GRCm39)	missense	probably damaging	1.00
R4729:Cpne4	UTSW	9	104,799,755 (GRCm39)	missense	probably damaging	0.96
R4943:Cpne4	UTSW	9	104,896,972 (GRCm39)	missense	probably damaging	1.00
R5119:Cpne4	UTSW	9	104,778,720 (GRCm39)	splice site	probably null
R5787:Cpne4	UTSW	9	104,899,600 (GRCm39)	missense	probably benign	0.01
R5839:Cpne4	UTSW	9	104,803,027 (GRCm39)	missense	probably damaging	1.00
R5876:Cpne4	UTSW	9	104,802,969 (GRCm39)	missense	probably damaging	0.98
R7386:Cpne4	UTSW	9	104,749,939 (GRCm39)	missense	possibly damaging	0.82
R7849:Cpne4	UTSW	9	104,563,718 (GRCm39)	missense	probably damaging	0.99
R7887:Cpne4	UTSW	9	104,909,990 (GRCm39)	missense	probably damaging	1.00
R8910:Cpne4	UTSW	9	104,799,706 (GRCm39)	intron	probably benign
R9368:Cpne4	UTSW	9	104,563,738 (GRCm39)	missense	probably damaging	0.99
R9407:Cpne4	UTSW	9	104,749,963 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTATCCGAGGCCATGTCTC -3'
(R):5'- CTCACTAGAGCAAATGTGGCACC -3'

Sequencing Primer
(F):5'- AGGCCATGTCTCCAGGTTG -3'
(R):5'- CAACTCAGTTTCTCTAGGAGCAGAG -3'

Posted On

2022-03-25