Mutagenetix > Incidental Mutation

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

Ellis van Creveld syndrome 2, Lbn, limbin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01547

Quality Score

Status

Chromosome

Chromosomal Location

37495843-37582399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37550431 bp (GRCm39)

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]

AlphaFold

Q8K1G2

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: 137,182,573 (GRCm39)	G243R	possibly damaging	Het
Afg3l1	T	C	8: 124,228,090 (GRCm39)	V625A	probably benign	Het
Arhgap39	T	C	15: 76,622,015 (GRCm39)		probably benign	Het
Bag1	A	G	4: 40,936,661 (GRCm39)	C332R	probably damaging	Het
Bcas2	T	C	3: 103,079,315 (GRCm39)	Y49H	probably damaging	Het
Cacna1b	C	A	2: 24,522,047 (GRCm39)		probably benign	Het
Cdyl	A	G	13: 35,974,145 (GRCm39)	D53G	possibly damaging	Het
Csmd3	T	C	15: 47,747,013 (GRCm39)	I1322V	probably benign	Het
Gm6309	C	T	5: 146,105,221 (GRCm39)	D231N	probably benign	Het
Mtfr2	C	T	10: 20,233,345 (GRCm39)	P305S	probably damaging	Het
Or14c44	A	G	7: 86,062,079 (GRCm39)	N170D	possibly damaging	Het
Or51k1	A	T	7: 103,661,867 (GRCm39)	I14N	probably benign	Het
Or7d10	A	T	9: 19,832,197 (GRCm39)	I231F	probably benign	Het
Pcdhb1	A	G	18: 37,400,395 (GRCm39)	H782R	probably benign	Het
Polr2a	A	G	11: 69,635,768 (GRCm39)	S480P	probably damaging	Het
Scaf11	T	C	15: 96,316,310 (GRCm39)	T1085A	probably benign	Het
Sema6c	C	T	3: 95,079,709 (GRCm39)	R668C	probably damaging	Het
Tas2r123	C	T	6: 132,824,421 (GRCm39)	T106I	probably damaging	Het
Tgm5	A	G	2: 120,879,683 (GRCm39)		probably benign	Het
Vmn2r23	T	A	6: 123,681,383 (GRCm39)	I97N	possibly damaging	Het
Vmn2r6	T	A	3: 64,445,525 (GRCm39)	K644N	probably damaging	Het
Zfp608	A	G	18: 55,027,521 (GRCm39)		probably null	Het

Other mutations in Evc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Evc2	APN	5	37,579,235 (GRCm39)	missense	probably benign	0.26
IGL01294:Evc2	APN	5	37,504,854 (GRCm39)	critical splice donor site	probably null
IGL02233:Evc2	APN	5	37,535,681 (GRCm39)	missense	probably damaging	0.99
IGL02253:Evc2	APN	5	37,535,771 (GRCm39)	splice site	probably benign
IGL02993:Evc2	APN	5	37,576,501 (GRCm39)	missense	probably benign	0.01
R0010:Evc2	UTSW	5	37,574,793 (GRCm39)	missense	probably damaging	1.00
R0010:Evc2	UTSW	5	37,574,793 (GRCm39)	missense	probably damaging	1.00
R0324:Evc2	UTSW	5	37,550,443 (GRCm39)	missense	probably damaging	1.00
R0441:Evc2	UTSW	5	37,574,811 (GRCm39)	missense	probably damaging	1.00
R0454:Evc2	UTSW	5	37,574,828 (GRCm39)	missense	possibly damaging	0.78
R1291:Evc2	UTSW	5	37,544,159 (GRCm39)	missense	probably damaging	1.00
R1433:Evc2	UTSW	5	37,550,427 (GRCm39)	missense	probably damaging	1.00
R1485:Evc2	UTSW	5	37,527,900 (GRCm39)	missense	probably benign	0.30
R1491:Evc2	UTSW	5	37,550,541 (GRCm39)	critical splice donor site	probably null
R1502:Evc2	UTSW	5	37,550,440 (GRCm39)	missense	probably benign
R1662:Evc2	UTSW	5	37,506,094 (GRCm39)	missense	probably benign	0.00
R1891:Evc2	UTSW	5	37,549,423 (GRCm39)	missense	probably damaging	1.00
R1965:Evc2	UTSW	5	37,520,876 (GRCm39)	missense	possibly damaging	0.73
R1983:Evc2	UTSW	5	37,573,275 (GRCm39)	nonsense	probably null
R2160:Evc2	UTSW	5	37,537,862 (GRCm39)	missense	possibly damaging	0.87
R2237:Evc2	UTSW	5	37,535,527 (GRCm39)	missense	probably benign	0.22
R3926:Evc2	UTSW	5	37,540,574 (GRCm39)	missense	probably damaging	1.00
R3953:Evc2	UTSW	5	37,537,931 (GRCm39)	critical splice donor site	probably null
R3959:Evc2	UTSW	5	37,573,120 (GRCm39)	missense	possibly damaging	0.63
R4281:Evc2	UTSW	5	37,495,938 (GRCm39)	missense	probably benign	0.33
R4366:Evc2	UTSW	5	37,496,013 (GRCm39)	missense	possibly damaging	0.93
R4707:Evc2	UTSW	5	37,579,204 (GRCm39)	missense	probably benign	0.08
R4754:Evc2	UTSW	5	37,544,375 (GRCm39)	missense	probably damaging	0.99
R5373:Evc2	UTSW	5	37,535,554 (GRCm39)	missense	probably damaging	1.00
R5593:Evc2	UTSW	5	37,544,321 (GRCm39)	missense	probably damaging	0.99
R5697:Evc2	UTSW	5	37,527,952 (GRCm39)	missense	probably damaging	1.00
R5847:Evc2	UTSW	5	37,562,068 (GRCm39)	intron	probably benign
R5874:Evc2	UTSW	5	37,574,883 (GRCm39)	intron	probably benign
R6023:Evc2	UTSW	5	37,505,960 (GRCm39)	missense	probably benign	0.13
R6285:Evc2	UTSW	5	37,581,923 (GRCm39)	missense	possibly damaging	0.86
R6394:Evc2	UTSW	5	37,535,619 (GRCm39)	missense	probably damaging	1.00
R6567:Evc2	UTSW	5	37,576,508 (GRCm39)	missense	probably benign	0.17
R6669:Evc2	UTSW	5	37,535,722 (GRCm39)	missense	possibly damaging	0.88
R7039:Evc2	UTSW	5	37,579,232 (GRCm39)	missense	probably damaging	1.00
R7131:Evc2	UTSW	5	37,567,602 (GRCm39)	missense	probably damaging	1.00
R7144:Evc2	UTSW	5	37,544,183 (GRCm39)	missense	probably damaging	0.97
R7372:Evc2	UTSW	5	37,544,477 (GRCm39)	missense	probably damaging	0.98
R7376:Evc2	UTSW	5	37,527,983 (GRCm39)	missense	possibly damaging	0.57
R7607:Evc2	UTSW	5	37,544,200 (GRCm39)	missense	possibly damaging	0.94
R7915:Evc2	UTSW	5	37,544,206 (GRCm39)	missense	probably damaging	0.98
R8144:Evc2	UTSW	5	37,537,911 (GRCm39)	missense	probably damaging	1.00
R8506:Evc2	UTSW	5	37,540,486 (GRCm39)	missense	probably damaging	1.00
R9097:Evc2	UTSW	5	37,550,505 (GRCm39)	missense	possibly damaging	0.66
R9151:Evc2	UTSW	5	37,504,823 (GRCm39)	missense	probably benign	0.00
R9261:Evc2	UTSW	5	37,537,895 (GRCm39)	missense	probably benign	0.00
R9612:Evc2	UTSW	5	37,544,130 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-03