Mutagenetix > Incidental Mutations

Incidental Mutation 'R6285:Evc2'

508164

Institutional Source

Beutler Lab

Gene Symbol

Evc2

Ensembl Gene

ENSMUSG00000050248

Gene Name

EvC ciliary complex subunit 2

Synonyms

Lbn, limbin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37338499-37425055 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37424579 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 1189 (S1189I)

Ref Sequence

ENSEMBL: ENSMUSP00000055130 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056365
AA Change: S1189I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: S1189I

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,072,224	K28R	probably benign	Het
Acad9	A	T	3: 36,082,175	M370L	probably benign	Het
Aimp1	A	G	3: 132,667,504	M225T	possibly damaging	Het
Atp8a1	T	C	5: 67,667,607	I809V	possibly damaging	Het
Bbs10	A	G	10: 111,299,761	Y245C	probably damaging	Het
Cabin1	A	T	10: 75,684,323	F1572Y	probably damaging	Het
Cd79a	A	G	7: 24,899,347	N107S	possibly damaging	Het
Cdc7	G	A	5: 106,983,059	A428T	probably benign	Het
Cep290	A	G	10: 100,523,329	T974A	probably benign	Het
Cep350	A	T	1: 155,953,374	N261K	possibly damaging	Het
Cfap46	T	A	7: 139,661,085	D8V	probably damaging	Het
Col6a4	T	C	9: 106,074,986	D571G	probably damaging	Het
Cpe	A	C	8: 64,617,611	V200G	probably benign	Het
Ctnnd1	C	T	2: 84,613,887		probably null	Het
D5Ertd579e	A	C	5: 36,615,577	C491W	probably damaging	Het
Dek	A	G	13: 47,099,380	I183T	probably damaging	Het
Dennd1a	A	T	2: 37,852,441	H437Q	possibly damaging	Het
Dido1	C	T	2: 180,661,147	A1655T	probably benign	Het
Eva1b	A	G	4: 126,149,485	D106G	probably damaging	Het
Faap100	A	T	11: 120,376,732	L405Q	probably damaging	Het
Fbxw15	T	A	9: 109,557,166	M249L	probably benign	Het
Gbp10	A	T	5: 105,218,460	L526Q	probably damaging	Het
Gm13084	A	G	4: 143,816,039	C4R	probably damaging	Het
Gm14025	T	G	2: 129,037,799	T736P	possibly damaging	Het
Gm19402	A	C	10: 77,690,520		probably benign	Het
Gm2244	A	G	14: 19,540,797	Y141H	probably damaging	Het
Gm4181	A	T	14: 51,633,209	N98K	probably damaging	Het
Gm765	T	C	6: 98,238,173	D163G	probably damaging	Het
Golga4	C	T	9: 118,558,627	R616*	probably null	Het
Gpank1	T	A	17: 35,124,290	S226T	probably damaging	Het
Hipk3	T	C	2: 104,471,425	M141V	probably damaging	Het
Hoxc11	T	C	15: 102,954,743	V73A	probably benign	Het
Igf1r	T	G	7: 68,004,137	I141S	possibly damaging	Het
Jak2	T	A	19: 29,295,659	F628I	probably benign	Het
Kcp	C	A	6: 29,502,365	V227L	probably benign	Het
Knl1	T	G	2: 119,071,941	C1374W	probably damaging	Het
Larp6	A	T	9: 60,737,760	R394S	probably benign	Het
Lilra5	G	A	7: 4,242,115	G253R	probably damaging	Het
Map3k4	A	G	17: 12,264,058	S591P	probably damaging	Het
Mrpl16	T	A	19: 11,772,968	I72K	probably damaging	Het
Nol11	C	G	11: 107,181,034	R244S	probably benign	Het
Nr2f1	T	C	13: 78,195,663	T161A	probably benign	Het
Nrd1	G	T	4: 109,038,006	V476F	probably damaging	Het
Olfr1406	G	T	1: 173,183,910	H175N	probably damaging	Het
Olfr419	A	T	1: 174,250,829	S33T	possibly damaging	Het
Olfr451-ps1	A	T	6: 42,800,909	H56L	probably benign	Het
Olfr535	T	A	7: 140,492,713	L25Q	possibly damaging	Het
P2rx1	A	G	11: 73,008,148	I62V	probably benign	Het
Pcdhgc5	A	T	18: 37,820,621	Y316F	probably benign	Het
Pecam1	T	C	11: 106,685,239	D490G	probably benign	Het
Pfkfb2	A	T	1: 130,707,562	Y87*	probably null	Het
Poldip2	A	G	11: 78,517,632		probably null	Het
Ppp2r5b	T	A	19: 6,230,536	Q304L	probably benign	Het
Psg26	A	G	7: 18,482,828	F29L	probably benign	Het
Ptk6	A	T	2: 181,197,093	L289Q	probably null	Het
Ptprt	A	T	2: 161,901,497	I508N	possibly damaging	Het
Rasgrp4	T	C	7: 29,148,383	F406S	probably damaging	Het
Rspo3	A	G	10: 29,499,930		probably null	Het
Sept8	G	T	11: 53,534,767		probably null	Het
Sirt2	A	C	7: 28,788,046	T345P	probably benign	Het
Slc6a20b	T	C	9: 123,609,096	E205G	possibly damaging	Het
Sqstm1	G	A	11: 50,202,591	Q327*	probably null	Het
Susd3	T	A	13: 49,237,521	S98C	probably damaging	Het
Tada2b	G	A	5: 36,476,842	R56W	probably damaging	Het
Tbc1d2	A	T	4: 46,615,045	V546E	possibly damaging	Het
Tbx6	A	G	7: 126,781,568	Q21R	possibly damaging	Het
Usp24	T	G	4: 106,374,100		probably null	Het
Vmn2r103	A	G	17: 19,812,144	T727A	probably benign	Het
Wdr48	C	T	9: 119,920,610	T531M	probably damaging	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
IGL01547:Evc2	APN	5	37393087	missense	probably benign	0.09
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
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

Predicted Primers

PCR Primer
(F):5'- AGAATCGGCCCAGAATGCAG -3'
(R):5'- TATGATATAGACGGACAGACCAACC -3'

Sequencing Primer
(F):5'- TCTCTCTGCAGCATATTGAAGAAG -3'
(R):5'- GGACAGACCAACCCACGTG -3'

Posted On

2018-03-15