Mutagenetix > Incidental Mutation

Incidental Mutation 'R0528:Cpne4'

49005

Institutional Source

Beutler Lab

Gene Symbol

Cpne4

Ensembl Gene

ENSMUSG00000032564

Gene Name

copine IV

Synonyms

3632411M23Rik, 4933406O10Rik

MMRRC Submission

038720-MU

Accession Numbers

Essential gene?

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

Stock #

R0528 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

104443900-104911747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104563640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 6 (N6Y)

Ref Sequence

ENSEMBL: ENSMUSP00000076432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057742] [ENSMUST00000077190] [ENSMUST00000098443] [ENSMUST00000157006] [ENSMUST00000213120]

AlphaFold

Q8BLR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057742
AA Change: N6Y

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: N6Y

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: N6Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: N6Y

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

probably damaging
Transcript: ENSMUST00000098443
AA Change: N6Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096042
Gene: ENSMUSG00000032564
AA Change: N6Y

Domain	Start	End	E-Value	Type
C2	24	130	1.21e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000157006
AA Change: N6Y

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117155
Gene: ENSMUSG00000032564
AA Change: N6Y

Domain	Start	End	E-Value	Type
Pfam:C2	28	104	1.4e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213120
AA Change: N6Y

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.1062

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

96% (65/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 79,838,848 (GRCm39)	W674G	probably damaging	Het
Abcc9	G	A	6: 142,638,606 (GRCm39)	H103Y	probably damaging	Het
Ano7	A	G	1: 93,323,224 (GRCm39)	N495S	probably null	Het
Aoc1l3	T	A	6: 48,964,965 (GRCm39)	D324E	probably benign	Het
Ash1l	A	G	3: 88,889,584 (GRCm39)	N488D	probably benign	Het
Astn2	A	G	4: 65,563,119 (GRCm39)		probably benign	Het
Atraid	T	A	5: 31,209,796 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,767,083 (GRCm39)	R866G	probably damaging	Het
Cep164	T	A	9: 45,688,234 (GRCm39)		probably benign	Het
Clec4f	G	A	6: 83,629,776 (GRCm39)	Q261*	probably null	Het
Dhx38	G	T	8: 110,289,293 (GRCm39)	Q36K	probably benign	Het
Dna2	C	A	10: 62,793,910 (GRCm39)	Q341K	probably benign	Het
Dynap	A	G	18: 70,375,165 (GRCm39)		probably benign	Het
Eif3l	T	C	15: 78,973,809 (GRCm39)	V408A	probably benign	Het
Foxi3	T	A	6: 70,934,122 (GRCm39)	I203N	probably damaging	Het
Gcc2	T	A	10: 58,134,511 (GRCm39)	L1495Q	probably damaging	Het
Gpr158	A	G	2: 21,830,019 (GRCm39)	D688G	probably damaging	Het
Hcfc2	C	A	10: 82,575,079 (GRCm39)	T246K	probably damaging	Het
Hdc	C	T	2: 126,458,152 (GRCm39)	E57K	probably benign	Het
Iqsec3	G	C	6: 121,389,743 (GRCm39)		probably benign	Het
Islr2	T	A	9: 58,106,645 (GRCm39)	E205V	probably damaging	Het
Klf9	T	C	19: 23,119,498 (GRCm39)	L127P	probably benign	Het
Lamc2	A	T	1: 152,999,840 (GRCm39)	L1173Q	probably damaging	Het
Lipe	G	A	7: 25,097,901 (GRCm39)	T14I	possibly damaging	Het
Lnpep	A	G	17: 17,751,394 (GRCm39)		probably benign	Het
Lrrc15	A	G	16: 30,092,566 (GRCm39)	S258P	probably damaging	Het
Macc1	A	T	12: 119,410,780 (GRCm39)	Y516F	probably benign	Het
Megf6	A	G	4: 154,343,630 (GRCm39)	T718A	probably benign	Het
Mtcl2	A	G	2: 156,862,612 (GRCm39)	L1439P	probably damaging	Het
Myh1	A	G	11: 67,111,445 (GRCm39)	D1628G	probably damaging	Het
Naca	C	T	10: 127,879,162 (GRCm39)	T1398I	probably benign	Het
Or1f12	A	G	13: 21,721,416 (GRCm39)	F238S	possibly damaging	Het
Or2a54	A	T	6: 43,093,150 (GRCm39)	H158L	possibly damaging	Het
Padi4	A	G	4: 140,496,740 (GRCm39)	V52A	possibly damaging	Het
Paqr5	G	A	9: 61,863,527 (GRCm39)	T251I	probably damaging	Het
Pcm1	A	G	8: 41,768,967 (GRCm39)	D1611G	probably damaging	Het
Prss12	G	A	3: 123,276,445 (GRCm39)	R358K	probably benign	Het
Racgap1	A	T	15: 99,526,587 (GRCm39)	H325Q	probably damaging	Het
Rbm12b1	A	G	4: 12,145,657 (GRCm39)	H543R	probably benign	Het
Rc3h1	A	T	1: 160,795,228 (GRCm39)	N1076I	probably damaging	Het
Rp1	A	G	1: 4,415,088 (GRCm39)	L2008P	possibly damaging	Het
Rsph3a	A	G	17: 8,164,919 (GRCm39)	H93R	possibly damaging	Het
Sbf1	C	T	15: 89,172,915 (GRCm39)	R1840H	probably damaging	Het
Skic8	T	A	9: 54,630,219 (GRCm39)		probably benign	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tbc1d9	T	C	8: 83,937,085 (GRCm39)	S56P	probably damaging	Het
Tiam2	A	T	17: 3,561,346 (GRCm39)	M1304L	probably damaging	Het
Tmprss11b	G	T	5: 86,819,753 (GRCm39)	R9S	probably damaging	Het
Tnfrsf21	T	A	17: 43,348,505 (GRCm39)	I39N	probably benign	Het
Tnrc6b	T	C	15: 80,763,604 (GRCm39)	S369P	probably benign	Het
Tpra1	T	C	6: 88,887,372 (GRCm39)	V217A	probably benign	Het
Uckl1	G	C	2: 181,212,283 (GRCm39)		probably benign	Het
Vmn1r199	A	T	13: 22,566,736 (GRCm39)	Q10L	probably benign	Het
Vmn2r76	A	G	7: 85,879,506 (GRCm39)	S265P	possibly damaging	Het
Vwa5b1	A	T	4: 138,321,662 (GRCm39)	L377Q	probably damaging	Het
Wrap73	A	G	4: 154,229,776 (GRCm39)	D49G	probably damaging	Het
Zfp764	T	A	7: 127,004,051 (GRCm39)	Q360L	possibly damaging	Het
Zfp846	G	A	9: 20,499,224 (GRCm39)		probably benign	Het
Zranb2	T	C	3: 157,240,096 (GRCm39)	I14T	probably benign	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
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
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'- ACTGGAAAATGGTGTTCTGAGCCG -3'
(R):5'- CGTGGGATTGCATCTTGAGGATGAC -3'

Sequencing Primer
(F):5'- CCAGCATCTGTTTGGGAATC -3'
(R):5'- TCTTGAGGATGACACAAGGGTC -3'

Posted On

2013-06-12