Mutagenetix > Incidental Mutation

Incidental Mutation 'R7887:Cpne4'

609125

Institutional Source

Beutler Lab

Gene Symbol

Cpne4

Ensembl Gene

ENSMUSG00000032564

Gene Name

copine IV

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104547286-105034544 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105032791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 529 (N529I)

Ref Sequence

ENSEMBL: ENSMUSP00000049663 (fasta)

Gene Model

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

AlphaFold

Q8BLR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000057742
AA Change: N529I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: N529I

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: N447I

SMART Domains

Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: N447I

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

Meta Mutation Damage Score

0.1214

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh8	T	A	9: 3,385,343	I580N	probably damaging	Het
Ankrd35	C	T	3: 96,684,900	T834M	probably damaging	Het
Astn2	C	T	4: 65,644,866	V893I	possibly damaging	Het
B4galt1	A	G	4: 40,823,501	Y197H	probably benign	Het
Brdt	T	C	5: 107,359,933	S676P	possibly damaging	Het
Chrdl2	T	C	7: 100,029,250	V343A	possibly damaging	Het
Clcn3	A	T	8: 60,941,399	M59K	probably benign	Het
Crcp	G	T	5: 130,037,870	K32N	possibly damaging	Het
Ddx54	C	T	5: 120,627,203	R846C	probably damaging	Het
Dennd6a	T	C	14: 26,599,657	S118P	possibly damaging	Het
Egr3	A	G	14: 70,079,202	Y116C	probably damaging	Het
Fbxw25	A	G	9: 109,649,594		probably null	Het
Focad	T	G	4: 88,182,616	I313M	probably damaging	Het
Gm10272	C	T	10: 77,706,945	P107L	probably benign	Het
Gpr26	A	C	7: 131,966,973	I16L	probably benign	Het
Gpr39	C	A	1: 125,677,542	T69K	probably damaging	Het
Hacl1	C	T	14: 31,634,227	G97S	probably damaging	Het
Idh3b	A	C	2: 130,281,758	D136E	probably damaging	Het
Irf6	G	A	1: 193,167,732	V321M	probably damaging	Het
Klrg2	T	A	6: 38,636,571	T166S	probably damaging	Het
Lnx2	T	C	5: 147,019,043	I648V	probably damaging	Het
Mecr	A	G	4: 131,860,866		probably null	Het
Mnat1	T	A	12: 73,188,191	S205T	probably benign	Het
Mpnd	G	A	17: 56,011,097	G204D	probably benign	Het
Myh7	C	T	14: 54,983,662	E935K	possibly damaging	Het
Nid1	G	T	13: 13,499,733	R899L	possibly damaging	Het
Nisch	C	T	14: 31,176,695	W664*	probably null	Het
Nudt6	C	T	3: 37,412,380	V157I	possibly damaging	Het
Olfr1156	T	C	2: 87,949,880	M118V	probably damaging	Het
Olfr573-ps1	A	C	7: 102,942,151	L142R	possibly damaging	Het
Olfr949-ps1	A	T	9: 39,364,879	M107L	unknown	Het
Onecut2	T	A	18: 64,340,975	M180K	possibly damaging	Het
Parg	T	A	14: 32,217,662	D548E	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,714,190		probably null	Het
Phf11d	A	G	14: 59,359,580	Y57H	probably damaging	Het
Prkaca	T	C	8: 83,986,895	V99A	probably benign	Het
Rnf144b	T	A	13: 47,239,811	C209S	probably damaging	Het
Scly	G	A	1: 91,300,641		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sphkap	T	C	1: 83,277,412	Y872C	probably benign	Het
Ssh1	C	T	5: 113,961,349		probably null	Het
Strap	T	G	6: 137,739,809	L129V	possibly damaging	Het
Sympk	T	C	7: 19,034,439	I111T	possibly damaging	Het
Tprn	C	A	2: 25,264,012	A442E	probably damaging	Het
Tsen34	T	C	7: 3,694,708	L36P	probably damaging	Het
Ubr4	T	C	4: 139,407,810	F818L	probably damaging	Het
Uggt1	T	C	1: 36,208,034	Y294C	probably damaging	Het
Usp20	A	G	2: 31,020,894	K862E	probably benign	Het
Vmn1r201	A	T	13: 22,474,786	I57F	probably damaging	Het
Wdr64	C	T	1: 175,785,545	A662V	not run	Het

Other mutations in Cpne4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Cpne4	APN	9	104901511	missense	probably damaging	1.00
IGL01871:Cpne4	APN	9	104925757	missense	possibly damaging	0.93
IGL02097:Cpne4	APN	9	104686502	missense	probably damaging	1.00
IGL02698:Cpne4	APN	9	105032785	missense	probably damaging	1.00
IGL02933:Cpne4	APN	9	105019767	missense	possibly damaging	0.64
R0471:Cpne4	UTSW	9	105022282	splice site	probably null
R0528:Cpne4	UTSW	9	104686441	missense	probably damaging	0.99
R0698:Cpne4	UTSW	9	104925795	missense	probably damaging	1.00
R1025:Cpne4	UTSW	9	104993858	missense	possibly damaging	0.64
R1054:Cpne4	UTSW	9	105022401	missense	probably benign	0.01
R1300:Cpne4	UTSW	9	104993134	missense	probably damaging	1.00
R1422:Cpne4	UTSW	9	104900285	missense	probably damaging	0.98
R1439:Cpne4	UTSW	9	104989632	missense	probably damaging	0.99
R1634:Cpne4	UTSW	9	104989579	missense	possibly damaging	0.94
R1777:Cpne4	UTSW	9	104872688	missense	probably damaging	1.00
R2992:Cpne4	UTSW	9	105022365	missense	probably damaging	1.00
R4094:Cpne4	UTSW	9	104686535	missense	probably damaging	1.00
R4729:Cpne4	UTSW	9	104922556	missense	probably damaging	0.96
R4943:Cpne4	UTSW	9	105019773	missense	probably damaging	1.00
R5119:Cpne4	UTSW	9	104901521	splice site	probably null
R5787:Cpne4	UTSW	9	105022401	missense	probably benign	0.01
R5839:Cpne4	UTSW	9	104925828	missense	probably damaging	1.00
R5876:Cpne4	UTSW	9	104925770	missense	probably damaging	0.98
R7386:Cpne4	UTSW	9	104872740	missense	possibly damaging	0.82
R7849:Cpne4	UTSW	9	104686519	missense	probably damaging	0.99
R8910:Cpne4	UTSW	9	104922507	intron	probably benign
R9267:Cpne4	UTSW	9	105007634	missense	probably damaging	0.97
R9368:Cpne4	UTSW	9	104686539	missense	probably damaging	0.99
R9407:Cpne4	UTSW	9	104872764	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAGCGTGAACACTGAGTG -3'
(R):5'- AGGGTTTAACAGATCCAGGC -3'

Sequencing Primer
(F):5'- AACACTGAGTGGGTGATAGTTG -3'
(R):5'- GCCTTGGGCTACACATGC -3'

Posted On

2019-12-20