Mutagenetix > Incidental Mutation

Incidental Mutation 'R5839:Cpne4'

449808

Institutional Source

Beutler Lab

Gene Symbol

Cpne4

Ensembl Gene

ENSMUSG00000032564

Gene Name

copine IV

Synonyms

3632411M23Rik, 4933406O10Rik

MMRRC Submission

044059-MU

Accession Numbers

Essential gene?

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

Stock #

R5839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104443900-104911747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104803027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 224 (R224S)

Ref Sequence

ENSEMBL: ENSMUSP00000076432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057742] [ENSMUST00000077190] [ENSMUST00000213120] [ENSMUST00000213452]

AlphaFold

Q8BLR2

Predicted Effect

probably benign
Transcript: ENSMUST00000057742
AA Change: R224S

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: R224S

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

probably damaging
Transcript: ENSMUST00000077190
AA Change: R224S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: R224S

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

possibly damaging
Transcript: ENSMUST00000213120
AA Change: R224S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000213452

Meta Mutation Damage Score

0.2618

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (62/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,186,861 (GRCm39)	Y420F	probably damaging	Het
Adcy8	A	G	15: 64,588,031 (GRCm39)	Y919H	probably damaging	Het
Afg2a	A	G	3: 37,518,803 (GRCm39)	D779G	probably damaging	Het
Ampd1	A	T	3: 102,992,744 (GRCm39)	N162I	possibly damaging	Het
Arhgef15	G	A	11: 68,844,982 (GRCm39)	A205V	probably benign	Het
Ash1l	A	G	3: 88,890,658 (GRCm39)	K846E	probably damaging	Het
Azi2	C	T	9: 117,888,187 (GRCm39)	T250I	probably damaging	Het
Btbd16	G	A	7: 130,417,538 (GRCm39)		probably null	Het
Ceacam16	T	A	7: 19,590,008 (GRCm39)	K52*	probably null	Het
Cfap74	T	C	4: 155,507,207 (GRCm39)		probably null	Het
Cgn	A	C	3: 94,681,703 (GRCm39)	L464R	probably damaging	Het
Chpt1	T	A	10: 88,339,625 (GRCm39)	H32L	probably damaging	Het
Clk1	G	A	1: 58,461,074 (GRCm39)	T7I	probably benign	Het
Col6a5	C	T	9: 105,822,592 (GRCm39)		probably null	Het
Cysltr2	T	C	14: 73,267,623 (GRCm39)	Y29C	probably damaging	Het
Ddx5	A	G	11: 106,673,032 (GRCm39)	S498P	probably damaging	Het
Dgkg	A	G	16: 22,385,244 (GRCm39)	Y382H	possibly damaging	Het
Efemp1	A	G	11: 28,871,418 (GRCm39)	E339G	possibly damaging	Het
Focad	T	A	4: 88,115,083 (GRCm39)		probably benign	Het
Gabbr1	G	A	17: 37,378,760 (GRCm39)	G650D	probably damaging	Het
Galnt9	A	G	5: 110,725,386 (GRCm39)	S108G	probably benign	Het
Igkv8-28	T	A	6: 70,121,145 (GRCm39)	M1L	probably benign	Het
Iqca1l	T	C	5: 24,757,024 (GRCm39)	K218E	probably damaging	Het
Kcnq2	T	C	2: 180,751,544 (GRCm39)	Y284C	probably damaging	Het
Macf1	A	G	4: 123,275,117 (GRCm39)	F6299S	probably damaging	Het
Magi3	G	A	3: 104,127,047 (GRCm39)	T79M	probably damaging	Het
Mdh2	T	A	5: 135,812,146 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,716,998 (GRCm39)	N108T	possibly damaging	Het
N4bp3	A	T	11: 51,536,909 (GRCm39)	F55I	probably benign	Het
Nasp	C	T	4: 116,459,288 (GRCm39)		probably null	Het
Ncapg	T	A	5: 45,829,620 (GRCm39)	H107Q	probably damaging	Het
Ofcc1	T	C	13: 40,434,021 (GRCm39)	K28R	probably damaging	Het
Opn1sw	C	T	6: 29,379,829 (GRCm39)	C135Y	probably damaging	Het
Pigo	T	C	4: 43,022,104 (GRCm39)	M346V	probably damaging	Het
Pkn2	A	T	3: 142,527,290 (GRCm39)	D386E	probably benign	Het
Psd2	G	T	18: 36,140,577 (GRCm39)	V617L	probably damaging	Het
Rab39	C	T	9: 53,617,387 (GRCm39)	R10H	probably damaging	Het
Slc6a6	T	A	6: 91,700,298 (GRCm39)	C9S	probably damaging	Het
Slc8a2	A	T	7: 15,868,412 (GRCm39)	I215F	probably damaging	Het
Slitrk5	T	C	14: 111,917,030 (GRCm39)	V218A	probably benign	Het
Smchd1	A	T	17: 71,701,857 (GRCm39)	V1045E	probably damaging	Het
Smoc1	T	C	12: 81,214,359 (GRCm39)	I247T	probably damaging	Het
Snapc4	G	C	2: 26,255,546 (GRCm39)	Q993E	probably benign	Het
Spidr	A	T	16: 15,855,366 (GRCm39)	I383N	probably damaging	Het
Stab2	A	G	10: 86,708,555 (GRCm39)	V219A	probably damaging	Het
Tas2r103	T	C	6: 133,013,779 (GRCm39)	T96A	probably benign	Het
Tcaf3	T	C	6: 42,570,783 (GRCm39)	E323G	possibly damaging	Het
Tecta	T	C	9: 42,284,272 (GRCm39)	T938A	possibly damaging	Het
Tecta	C	T	9: 42,242,319 (GRCm39)	D2085N	probably benign	Het
Tekt2	T	A	4: 126,216,629 (GRCm39)	E328V	probably damaging	Het
Tgfb1i1	A	G	7: 127,852,537 (GRCm39)	*462W	probably null	Het
Tnip2	T	C	5: 34,653,976 (GRCm39)		probably benign	Het
Tpd52l2	G	A	2: 181,141,691 (GRCm39)	V25I	probably benign	Het
Traj15	T	A	14: 54,441,926 (GRCm39)		probably benign	Het
Trpm8	A	T	1: 88,253,228 (GRCm39)	I106F	possibly damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Ttn	T	C	2: 76,739,772 (GRCm39)	H3589R	probably benign	Het
Vmn1r28	T	A	6: 58,242,280 (GRCm39)	I41N	possibly damaging	Het
Wasf1	T	A	10: 40,812,315 (GRCm39)	V368E	unknown	Het
Zeb1	A	G	18: 5,767,507 (GRCm39)	M673V	probably benign	Het
Zfp799	T	C	17: 33,041,086 (GRCm39)	D31G	probably null	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
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
R9267:Cpne4	UTSW	9	104,884,833 (GRCm39)	missense	probably damaging	0.97
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'- GTCCTCAAGTTTGCATCAAGCC -3'
(R):5'- CTCTGGAAGAAGAAATAGCCTCAC -3'

Sequencing Primer
(F):5'- AGTTTGCATCAAGCCACCTG -3'
(R):5'- GAAGAAATAGCCTCACTTTCTTCC -3'

Posted On

2016-12-20