Mutagenetix > Incidental Mutation

Incidental Mutation 'R4094:Cpne4'

317807

Institutional Source

Beutler Lab

Gene Symbol

Cpne4

Ensembl Gene

ENSMUSG00000032564

Gene Name

copine IV

Synonyms

3632411M23Rik, 4933406O10Rik

MMRRC Submission

041628-MU

Accession Numbers

Essential gene?

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

Stock #

R4094 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104443900-104911747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104563734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 37 (D37G)

Ref Sequence

ENSEMBL: ENSMUSP00000150096 (fasta)

Gene Model

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

AlphaFold

Q8BLR2

Predicted Effect

probably damaging
Transcript: ENSMUST00000057742
AA Change: D37G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: D37G

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: D37G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: D37G

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: D37G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096042
Gene: ENSMUSG00000032564
AA Change: D37G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000157006
AA Change: D37G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117155
Gene: ENSMUSG00000032564
AA Change: D37G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213120
AA Change: D37G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,071,192 (GRCm39)	C1500R	probably damaging	Het
Amz1	A	T	5: 140,737,921 (GRCm39)	M93L	probably damaging	Het
Asb18	A	T	1: 89,942,147 (GRCm39)	N51K	probably damaging	Het
Bcl11b	G	T	12: 107,883,094 (GRCm39)	P335Q	probably damaging	Het
Bsn	A	C	9: 107,991,069 (GRCm39)	V1561G	probably damaging	Het
Cadm2	A	T	16: 66,679,685 (GRCm39)	N49K	probably damaging	Het
Cct8	T	G	16: 87,284,516 (GRCm39)	I283L	possibly damaging	Het
Cdc25b	A	G	2: 131,031,037 (GRCm39)	M121V	probably benign	Het
Cym	A	G	3: 107,121,582 (GRCm39)	S237P	probably benign	Het
Dhx35	T	A	2: 158,684,276 (GRCm39)	I517N	probably damaging	Het
Ehf	T	C	2: 103,121,095 (GRCm39)		probably benign	Het
Erp29	A	G	5: 121,590,345 (GRCm39)		probably benign	Het
Fgd6	C	A	10: 93,879,296 (GRCm39)	P50Q	probably damaging	Het
Fhip1b	T	C	7: 105,037,425 (GRCm39)	D386G	probably damaging	Het
Foxn3	G	T	12: 99,162,700 (GRCm39)	D400E	probably damaging	Het
Frmd4a	A	G	2: 4,615,843 (GRCm39)	Y1031C	probably damaging	Het
Gna13	T	A	11: 109,287,242 (GRCm39)	I355N	probably damaging	Het
Hgs	T	A	11: 120,359,859 (GRCm39)	L21*	probably null	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Itga2	T	C	13: 115,007,161 (GRCm39)	D389G	probably benign	Het
Kdm1b	T	C	13: 47,216,496 (GRCm39)	C289R	probably damaging	Het
Kdm4c	T	A	4: 74,229,915 (GRCm39)	D237E	probably benign	Het
Lilrb4b	A	T	10: 51,357,506 (GRCm39)	E114V	probably damaging	Het
Loxl1	G	A	9: 58,219,739 (GRCm39)	T144I	probably damaging	Het
Macf1	C	T	4: 123,353,062 (GRCm39)	R1784Q	probably benign	Het
Maml2	G	A	9: 13,531,449 (GRCm39)	S221N	probably benign	Het
Map3k1	A	G	13: 111,892,696 (GRCm39)	M853T	possibly damaging	Het
Micu3	T	G	8: 40,788,929 (GRCm39)	S147A	probably null	Het
Nccrp1	T	C	7: 28,243,651 (GRCm39)	Y261C	possibly damaging	Het
Or51aa5	T	A	7: 103,167,244 (GRCm39)	I116F	possibly damaging	Het
Or5m5	A	G	2: 85,814,562 (GRCm39)	Y126C	probably damaging	Het
Or8k18	T	C	2: 86,085,674 (GRCm39)	D121G	probably damaging	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Pclo	C	A	5: 14,905,659 (GRCm39)	T4963N	unknown	Het
Pdxk	T	C	10: 78,300,644 (GRCm39)	H13R	probably damaging	Het
Plcg1	A	G	2: 160,589,761 (GRCm39)	E95G	probably damaging	Het
Ppargc1a	T	C	5: 51,647,406 (GRCm39)	N276S	possibly damaging	Het
Prr12	A	G	7: 44,697,371 (GRCm39)	L848P	unknown	Het
Ptcd2	A	G	13: 99,468,957 (GRCm39)	I202T	probably damaging	Het
Rab27a	A	C	9: 72,982,826 (GRCm39)	I44L	probably damaging	Het
Rbfox2	A	T	15: 77,016,925 (GRCm39)	S82T	probably damaging	Het
Rsbn1	T	A	3: 103,835,974 (GRCm39)	F337L	probably damaging	Het
Samd8	T	C	14: 21,843,113 (GRCm39)	I414T	probably damaging	Het
Sema3e	A	G	5: 14,283,704 (GRCm39)	I478V	probably benign	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc2a3	A	T	6: 122,712,527 (GRCm39)	I239N	probably benign	Het
Spc25	G	A	2: 69,032,975 (GRCm39)	S50L	probably damaging	Het
St8sia4	A	T	1: 95,555,411 (GRCm39)	S206R	possibly damaging	Het
Syngr3	G	A	17: 24,908,817 (GRCm39)		probably benign	Het
Tigd4	A	G	3: 84,501,947 (GRCm39)	D288G	probably damaging	Het
Trim34b	A	G	7: 103,983,795 (GRCm39)	M251V	probably benign	Het
Ttll5	A	T	12: 86,003,376 (GRCm39)	R214*	probably null	Het
Ttn	T	C	2: 76,730,860 (GRCm39)		probably benign	Het
Vmp1	A	G	11: 86,534,406 (GRCm39)	I167T	probably benign	Het
Zfp64	T	C	2: 168,767,855 (GRCm39)	T586A	probably benign	Het
Zfp943	T	A	17: 22,211,963 (GRCm39)	C350S	probably damaging	Het
Zscan4f	A	T	7: 11,135,185 (GRCm39)	N197I	probably 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
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'- ACAGTTTCCTGAATGGTGACG -3'
(R):5'- CCCTTCATTTTAGAGCAAACATGC -3'

Sequencing Primer
(F):5'- GGGACGCTTCCTCCTTTGAAAAATG -3'
(R):5'- TTTAGAGCAAACATGCTAAAGACAG -3'

Posted On

2015-05-15