Mutagenetix > Incidental Mutations

Incidental Mutation 'R4366:Evc2'

325746

Institutional Source

Beutler Lab

Gene Symbol

Evc2

Ensembl Gene

ENSMUSG00000050248

Gene Name

EvC ciliary complex subunit 2

Synonyms

Lbn, limbin

MMRRC Submission

041114-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4366 (G1)

Quality Score

104

Status

Validated

Chromosome

Chromosomal Location

37338499-37425055 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37338669 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 41 (A41D)

Ref Sequence

ENSEMBL: ENSMUSP00000055130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031005] [ENSMUST00000056365] [ENSMUST00000114148]

Predicted Effect

probably benign
Transcript: ENSMUST00000031005

SMART Domains

Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	77	92	N/A	INTRINSIC
low complexity region	173	183	N/A	INTRINSIC
low complexity region	449	472	N/A	INTRINSIC
low complexity region	640	652	N/A	INTRINSIC
low complexity region	670	682	N/A	INTRINSIC
coiled coil region	694	725	N/A	INTRINSIC
low complexity region	772	786	N/A	INTRINSIC
coiled coil region	871	911	N/A	INTRINSIC
low complexity region	927	944	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056365
AA Change: A41D

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: A41D

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: ENSMUST00000101258

Predicted Effect

probably benign
Transcript: ENSMUST00000114148

SMART Domains

Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	77	92	N/A	INTRINSIC
low complexity region	173	183	N/A	INTRINSIC
low complexity region	449	472	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133376

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

95% (57/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	A	C	17: 43,441,969	T396P	probably damaging	Het
Apob	A	T	12: 8,016,083	I4318F	possibly damaging	Het
Apol7c	T	G	15: 77,526,389	D119A	probably benign	Het
App	G	T	16: 85,056,433	D252E	unknown	Het
C4a	T	A	17: 34,814,908		noncoding transcript	Het
Cacna1b	T	C	2: 24,702,620	Y515C	probably damaging	Het
Cacna1f	G	T	X: 7,609,974	A123S	probably damaging	Het
Cldn6	G	C	17: 23,681,520	A153P	probably benign	Het
Cmya5	T	C	13: 93,091,956	N2208S	probably benign	Het
Csnk1g1	A	G	9: 66,019,853	T101A	probably benign	Het
Ddx46	T	A	13: 55,663,236	D544E	probably benign	Het
Dmxl1	T	A	18: 49,878,017	C1080*	probably null	Het
Dst	T	C	1: 34,251,878	S3335P	probably damaging	Het
Efnb3	T	C	11: 69,555,945	K313R	probably damaging	Het
Elf2	G	A	3: 51,308,149	Q47*	probably null	Het
Elmsan1	C	T	12: 84,156,471	G886S	probably benign	Het
Epc2	A	G	2: 49,547,554	K657E	possibly damaging	Het
Ephx4	A	G	5: 107,403,813		probably benign	Het
Ereg	T	C	5: 91,086,800	I24T	probably benign	Het
Fkbp15	A	G	4: 62,336,414	V283A	probably benign	Het
Flrt3	T	C	2: 140,660,407	T434A	probably damaging	Het
Gm572	A	G	4: 148,654,865	D50G	possibly damaging	Het
Hecw1	C	T	13: 14,316,164	D748N	probably damaging	Het
Hivep3	A	C	4: 120,096,089	H534P	possibly damaging	Het
Hspa4l	C	A	3: 40,766,809		probably null	Het
Ipo7	T	C	7: 110,029,712	M63T	possibly damaging	Het
Ipo7	A	T	7: 110,048,216	T614S	possibly damaging	Het
Krt83	T	G	15: 101,487,514	M326L	probably benign	Het
Mbd5	T	A	2: 49,272,966	N261K	probably damaging	Het
Mcam	T	A	9: 44,134,697	L3Q	probably damaging	Het
Mcoln3	C	A	3: 146,140,492	T519K	possibly damaging	Het
Mrgprx1	C	A	7: 48,021,193	A269S	probably damaging	Het
Mypn	T	C	10: 63,192,708	E192G	probably benign	Het
Nup205	C	A	6: 35,192,027	P397Q	probably benign	Het
Obsl1	A	C	1: 75,488,049	L1576R	possibly damaging	Het
Ofcc1	A	G	13: 40,015,461	S817P	probably benign	Het
Olfr800	A	T	10: 129,660,531	M242L	probably benign	Het
Olfr876	A	T	9: 37,804,190	H93L	probably benign	Het
Pcdhgb7	A	G	18: 37,754,072	Y765C	possibly damaging	Het
Pde7a	A	G	3: 19,310,862		probably null	Het
Phip	C	T	9: 82,900,869		probably benign	Het
Rhbdl2	T	A	4: 123,809,935	M1K	probably null	Het
Ripor2	C	T	13: 24,721,711	P947S	probably benign	Het
Sf3a3	A	G	4: 124,725,139	T298A	probably benign	Het
Slc25a29	C	T	12: 108,831,171		probably benign	Het
Spinkl	T	G	18: 44,174,583	T4P	possibly damaging	Het
Stk33	G	A	7: 109,279,795	S449L	probably benign	Het
Suz12	T	A	11: 80,002,162		probably benign	Het
Timp2	T	A	11: 118,310,671	I124F	probably damaging	Het
Tlr1	C	T	5: 64,925,837	D466N	probably benign	Het
Tmem200b	A	G	4: 131,922,470	I234V	possibly damaging	Het
Ubr1	C	A	2: 120,970,603		probably benign	Het
Usp33	C	A	3: 152,368,512	Q332K	probably benign	Het
Zfr	A	G	15: 12,156,330	E634G	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
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

Predicted Primers

PCR Primer
(F):5'- CCAGAAAACTTTCCAGGCGG -3'
(R):5'- TGATACAAGTATGTGCAGAACGC -3'

Sequencing Primer
(F):5'- GTTCGCACTGAGCATGCTC -3'
(R):5'- GCAGAACGCACCTAGAAGC -3'

Posted On

2015-07-06