Mutagenetix > Incidental Mutations

Incidental Mutation 'R1054:Cpne4'

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94201

Institutional Source

Beutler Lab

Gene Symbol

Cpne4

Ensembl Gene

ENSMUSG00000032564

Gene Name

copine IV

Synonyms

MMRRC Submission

039144-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R1054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104547286-105034544 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105022401 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 428 (T428A)

Ref Sequence

ENSEMBL: ENSMUSP00000049663 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057742
AA Change: T428A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564
AA Change: T428A

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: T346A

SMART Domains

Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564
AA Change: T346A

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: T179A

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,751,559	T159A	probably benign	Het
Arhgef38	T	C	3: 133,116,465	Y763C	probably damaging	Het
Arv1	T	A	8: 124,731,872	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,178,544	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,313,353	M932K	probably benign	Het
Cdh15	T	C	8: 122,864,337	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534	D105N	probably damaging	Het
Cramp1l	T	A	17: 24,983,177	I444F	probably damaging	Het
Dhx32	T	A	7: 133,725,272	K360M	probably damaging	Het
Dna2	T	A	10: 62,963,823	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 142,082,067		probably benign	Het
Eif3f	G	A	7: 108,937,817		probably null	Het
Elmod1	T	C	9: 53,912,774	D310G	probably benign	Het
Fam105a	T	C	15: 27,664,549	R79G	probably damaging	Het
Fn1	A	G	1: 71,586,214	*2272Q	probably null	Het
Gm12800	A	G	4: 101,909,164	E15G	probably benign	Het
Gm8765	T	C	13: 50,702,396	V690A	probably benign	Het
Gnat1	A	G	9: 107,677,439	S76P	probably damaging	Het
Gtf2f2	T	C	14: 75,995,445	T94A	probably benign	Het
Hacd4	A	T	4: 88,423,027	W152R	probably damaging	Het
Kcnh8	A	G	17: 52,803,484	Y241C	probably damaging	Het
Lepr	T	C	4: 101,782,596	I753T	probably damaging	Het
Med12l	C	T	3: 59,248,651	H1162Y	probably damaging	Het
Med25	C	T	7: 44,880,380	A485T	probably benign	Het
Mup5	A	T	4: 61,832,634	S145R	probably benign	Het
Myo1g	A	G	11: 6,518,987	V105A	probably damaging	Het
Npc2	A	G	12: 84,760,718		probably null	Het
Olfr414	A	G	1: 174,430,853	T142A	probably benign	Het
Olfr648	A	G	7: 104,180,291	I39T	probably benign	Het
Pdzd2	A	G	15: 12,371,639	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,809	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536	V199A	possibly damaging	Het
Ptprm	A	T	17: 67,042,318	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,882,081	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 58,893,945		noncoding transcript	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sdr16c6	A	G	4: 4,069,908	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,717,518	H827N	probably damaging	Het
Taf4b	T	A	18: 14,821,473	H535Q	probably benign	Het
Timmdc1	A	G	16: 38,522,428	V36A	probably benign	Het
Tmem74b	C	T	2: 151,706,419	A22V	probably benign	Het
Txnrd3	T	A	6: 89,650,561	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,395,454	S133R	probably damaging	Het
Vwf	G	A	6: 125,590,227	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,896,315	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,904,599	S407T	probably benign	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
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
R7887:Cpne4	UTSW	9	105032791	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAACGGACCACGGAACTGTTG -3'
(R):5'- AGACCAGGAGTTGAGCCTTGTCAC -3'

Sequencing Primer
(F):5'- CCAAGCTCCAGCTTTATGGT -3'
(R):5'- CGCAGTGAACATAGTAGCTTCTG -3'

Posted On

2014-01-05