Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01547:Evc2'

90366

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Evc2

Ensembl Gene

ENSMUSG00000050248

Gene Name

EvC ciliary complex subunit 2

Synonyms

Lbn, limbin

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01547

Quality Score

Status

Chromosome

Chromosomal Location

37338499-37425055 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37393087 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 815 (A815E)

Ref Sequence

ENSEMBL: ENSMUSP00000055130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056365]

Predicted Effect

probably benign
Transcript: ENSMUST00000056365
AA Change: A815E

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: A815E

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	40	59	N/A	INTRINSIC
Pfam:EVC2_like	147	570	2.1e-191	PFAM
low complexity region	576	600	N/A	INTRINSIC
coiled coil region	617	644	N/A	INTRINSIC
low complexity region	780	791	N/A	INTRINSIC
low complexity region	902	914	N/A	INTRINSIC
coiled coil region	922	956	N/A	INTRINSIC
low complexity region	1057	1071	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159915

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit perinatal lethality, short limbs and ribs, decreased osteoblast differentiation and abnormal chondrocyte physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,455,262	G243R	possibly damaging	Het
Afg3l1	T	C	8: 123,501,351	V625A	probably benign	Het
Arhgap39	T	C	15: 76,737,815		probably benign	Het
Bag1	A	G	4: 40,936,661	C332R	probably damaging	Het
Bcas2	T	C	3: 103,171,999	Y49H	probably damaging	Het
Cacna1b	C	A	2: 24,632,035		probably benign	Het
Cdyl	A	G	13: 35,790,162	D53G	possibly damaging	Het
Csmd3	T	C	15: 47,883,617	I1322V	probably benign	Het
Gm6309	C	T	5: 146,168,411	D231N	probably benign	Het
Mtfr2	C	T	10: 20,357,599	P305S	probably damaging	Het
Olfr301	A	G	7: 86,412,871	N170D	possibly damaging	Het
Olfr639	A	T	7: 104,012,660	I14N	probably benign	Het
Olfr77	A	T	9: 19,920,901	I231F	probably benign	Het
Pcdhb1	A	G	18: 37,267,342	H782R	probably benign	Het
Polr2a	A	G	11: 69,744,942	S480P	probably damaging	Het
Scaf11	T	C	15: 96,418,429	T1085A	probably benign	Het
Sema6c	C	T	3: 95,172,398	R668C	probably damaging	Het
Tas2r123	C	T	6: 132,847,458	T106I	probably damaging	Het
Tgm5	A	G	2: 121,049,202		probably benign	Het
Vmn2r23	T	A	6: 123,704,424	I97N	possibly damaging	Het
Vmn2r6	T	A	3: 64,538,104	K644N	probably damaging	Het
Zfp608	A	G	18: 54,894,449		probably null	Het

Other mutations in Evc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Evc2	APN	5	37421891	missense	probably benign	0.26
IGL01294:Evc2	APN	5	37347510	critical splice donor site	probably null
IGL02233:Evc2	APN	5	37378337	missense	probably damaging	0.99
IGL02253:Evc2	APN	5	37378427	splice site	probably benign
IGL02993:Evc2	APN	5	37419157	missense	probably benign	0.01
R0010:Evc2	UTSW	5	37417449	missense	probably damaging	1.00
R0010:Evc2	UTSW	5	37417449	missense	probably damaging	1.00
R0324:Evc2	UTSW	5	37393099	missense	probably damaging	1.00
R0441:Evc2	UTSW	5	37417467	missense	probably damaging	1.00
R0454:Evc2	UTSW	5	37417484	missense	possibly damaging	0.78
R1291:Evc2	UTSW	5	37386815	missense	probably damaging	1.00
R1433:Evc2	UTSW	5	37393083	missense	probably damaging	1.00
R1485:Evc2	UTSW	5	37370556	missense	probably benign	0.30
R1491:Evc2	UTSW	5	37393197	critical splice donor site	probably null
R1502:Evc2	UTSW	5	37393096	missense	probably benign
R1662:Evc2	UTSW	5	37348750	missense	probably benign	0.00
R1891:Evc2	UTSW	5	37392079	missense	probably damaging	1.00
R1965:Evc2	UTSW	5	37363532	missense	possibly damaging	0.73
R1983:Evc2	UTSW	5	37415931	nonsense	probably null
R2160:Evc2	UTSW	5	37380518	missense	possibly damaging	0.87
R2237:Evc2	UTSW	5	37378183	missense	probably benign	0.22
R3926:Evc2	UTSW	5	37383230	missense	probably damaging	1.00
R3953:Evc2	UTSW	5	37380587	critical splice donor site	probably null
R3959:Evc2	UTSW	5	37415776	missense	possibly damaging	0.63
R4281:Evc2	UTSW	5	37338594	missense	probably benign	0.33
R4366:Evc2	UTSW	5	37338669	missense	possibly damaging	0.93
R4707:Evc2	UTSW	5	37421860	missense	probably benign	0.08
R4754:Evc2	UTSW	5	37387031	missense	probably damaging	0.99
R5373:Evc2	UTSW	5	37378210	missense	probably damaging	1.00
R5593:Evc2	UTSW	5	37386977	missense	probably damaging	0.99
R5697:Evc2	UTSW	5	37370608	missense	probably damaging	1.00
R5847:Evc2	UTSW	5	37404724	intron	probably benign
R5874:Evc2	UTSW	5	37417539	intron	probably benign
R6023:Evc2	UTSW	5	37348616	missense	probably benign	0.13
R6285:Evc2	UTSW	5	37424579	missense	possibly damaging	0.86
R6394:Evc2	UTSW	5	37378275	missense	probably damaging	1.00
R6567:Evc2	UTSW	5	37419164	missense	probably benign	0.17
R6669:Evc2	UTSW	5	37378378	missense	possibly damaging	0.88
R7039:Evc2	UTSW	5	37421888	missense	probably damaging	1.00
R7131:Evc2	UTSW	5	37410258	missense	probably damaging	1.00
R7144:Evc2	UTSW	5	37386839	missense	probably damaging	0.97
R7372:Evc2	UTSW	5	37387133	missense	probably damaging	0.98
R7376:Evc2	UTSW	5	37370639	missense	possibly damaging	0.57
R7607:Evc2	UTSW	5	37386856	missense	possibly damaging	0.94
R7915:Evc2	UTSW	5	37386862	missense	probably damaging	0.98
R8144:Evc2	UTSW	5	37380567	missense	probably damaging	1.00
R8506:Evc2	UTSW	5	37383142	missense	probably damaging	1.00

Posted On

2013-12-03