Mutagenetix > Incidental Mutations

Incidental Mutation 'R7372:Evc2'

572148

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 #

R7372 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37338499-37425055 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37387133 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 742 (V742E)

Ref Sequence

ENSEMBL: ENSMUSP00000055130 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000056365
AA Change: V742E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: V742E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	G	A	1: 156,622,619	V119M	probably damaging	Het
Acss2	T	C	2: 155,557,180	V454A	probably damaging	Het
Adam6b	T	A	12: 113,490,164	D200E	probably benign	Het
Adarb1	T	A	10: 77,295,878		probably null	Het
Aqp12	C	T	1: 93,006,366		probably benign	Het
Atrnl1	T	C	19: 57,935,646	V1281A	possibly damaging	Het
Brdt	A	G	5: 107,370,294	E761G	possibly damaging	Het
Bsn	A	T	9: 108,110,519	I2678N	unknown	Het
C2cd2	A	T	16: 97,875,380	C136S		Het
Camk4	A	G	18: 33,185,125	D445G	probably benign	Het
Cckar	T	C	5: 53,707,282	T26A	probably damaging	Het
Cd209a	T	A	8: 3,748,857		probably null	Het
Cept1	A	G	3: 106,503,740	F379S	probably benign	Het
Crhr1	A	G	11: 104,163,893		probably null	Het
Cryzl1	T	C	16: 91,712,197	E72G	probably benign	Het
Ctnnal1	T	A	4: 56,826,285	E526V	possibly damaging	Het
Cyp3a41a	T	C	5: 145,713,564	I90V	possibly damaging	Het
Dek	T	C	13: 47,105,577	E51G	unknown	Het
Fat4	G	A	3: 38,890,209	V1084M	probably damaging	Het
Fscb	G	A	12: 64,471,824	T956I	unknown	Het
Glipr2	T	C	4: 43,968,184	L29P	probably damaging	Het
Gm19402	A	T	10: 77,690,427	S111T	unknown	Het
Gm340	T	C	19: 41,585,506	L900P	probably damaging	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 142,165,420		probably benign	Het
Gnl3	T	C	14: 31,016,886	K115E	probably benign	Het
Gpn1	T	A	5: 31,501,121	F147I	probably damaging	Het
Gsdmd	T	A	15: 75,865,769	L232H	probably benign	Het
Helz2	A	G	2: 181,238,423	V500A	possibly damaging	Het
Hemk1	T	C	9: 107,337,068	E55G	probably benign	Het
Hs2st1	A	T	3: 144,435,460		probably null	Het
Ighv1-63	A	G	12: 115,495,866	V37A	probably damaging	Het
Iqsec3	C	A	6: 121,384,032	E956*	probably null	Het
Kcnh8	T	A	17: 52,894,101	I521K	probably damaging	Het
Kif3c	T	A	12: 3,387,592	M531K	probably benign	Het
Kif5c	T	A	2: 49,758,659		probably null	Het
Krt15	A	T	11: 100,135,560	V100E	possibly damaging	Het
Lrrc32	A	G	7: 98,499,807	D598G	probably benign	Het
Mug2	T	C	6: 122,083,466	V1387A	possibly damaging	Het
Nin	T	A	12: 70,056,029	E275V		Het
Olfr493	A	G	7: 108,346,496	F162L	probably benign	Het
Papolg	A	G	11: 23,866,439	I698T	probably benign	Het
Pcdhb20	A	G	18: 37,506,787	N789D	probably benign	Het
Pih1d3	A	T	1: 31,223,351	D138V	probably damaging	Het
Pik3cg	C	T	12: 32,197,197	M842I	probably damaging	Het
Pnn	T	A	12: 59,068,979	D135E	probably damaging	Het
Pold1	C	A	7: 44,543,423	R5L	possibly damaging	Het
Prl8a1	A	T	13: 27,574,106	F207I	probably damaging	Het
Prr11	A	G	11: 87,098,774	V257A	probably benign	Het
Prtg	C	T	9: 72,851,566	R401*	probably null	Het
Rasgrp1	A	G	2: 117,285,154	M651T	probably benign	Het
Ryr2	T	A	13: 11,680,999	H2994L	probably damaging	Het
Snx13	A	T	12: 35,078,951	I23L	probably benign	Het
Snx7	A	G	3: 117,782,351	L429P	probably damaging	Het
Spta1	C	T	1: 174,197,635	Q689*	probably null	Het
Spty2d1	T	C	7: 46,998,944	D79G	probably damaging	Het
Tbc1d9b	A	G	11: 50,168,688		probably null	Het
Tnxb	T	C	17: 34,717,254	F2722L	possibly damaging	Het
Tppp2	C	T	14: 51,919,408	R81C	probably benign	Het
Trim6	G	T	7: 104,232,636	A391S	probably benign	Het
Trim69	A	C	2: 122,178,583	T375P	possibly damaging	Het
Trim72	A	G	7: 128,004,686	N68S	possibly damaging	Het
Trrap	G	A	5: 144,789,398	V386I	probably benign	Het
Ttn	T	C	2: 76,947,931	I1371V	unknown	Het
Usp17lb	A	T	7: 104,841,706		probably null	Het
Vmn2r20	A	T	6: 123,385,509	L772Q	probably damaging	Het
Ypel3	A	G	7: 126,780,028	E91G	probably benign	Het
Zbtb21	C	T	16: 97,950,369	E905K	possibly damaging	Het
Zfp189	T	A	4: 49,530,417	C507S	possibly 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
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
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'- TTCCTGCAGCAGATCTTAGAGG -3'
(R):5'- CAAATCTTATTTGTCTGGGGATGGC -3'

Sequencing Primer
(F):5'- TCTTAGAGGAGCACAGCCG -3'
(R):5'- ATCATATGCTCAGATATCCTGCC -3'

Posted On

2019-09-13