Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Evc2'

588355

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 #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37338499-37425055 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37386856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 650 (T650A)

Ref Sequence

ENSEMBL: ENSMUSP00000055130 (fasta)

Gene Model

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

AlphaFold

Q8K1G2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056365
AA Change: T650A

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: T650A

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

0.1944

Coding Region Coverage

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

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,237,557	H30Q	probably damaging	Het
1700012P22Rik	T	A	4: 144,419,762	H107L	probably damaging	Het
A930009A15Rik	G	A	10: 115,581,989		probably null	Het
Abca7	T	C	10: 80,011,833	L1779P	probably damaging	Het
Aff1	G	A	5: 103,849,459	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,712,419	A169V	probably damaging	Het
Atat1	T	C	17: 35,909,107	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,011		probably null	Het
Atp7b	T	G	8: 22,011,506	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,814,321	V112A	possibly damaging	Het
Cobll1	T	C	2: 65,095,857	N1119S	probably benign	Het
Csmd1	G	T	8: 15,918,331	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,984,981	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,195,069	R948*	probably null	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449	V78A	probably damaging	Het
Exoc6b	T	A	6: 84,989,409	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,662,732	W1809*	probably null	Het
Frmd4a	T	A	2: 4,591,936	L156*	probably null	Het
Gk5	A	T	9: 96,153,210		probably null	Het
Gm3573	A	G	14: 42,189,750	F8L	probably benign	Het
Gm906	T	C	13: 50,250,260	E2G	possibly damaging	Het
Gm9767	G	A	10: 26,078,940	C130Y	unknown	Het
Grip2	T	C	6: 91,788,412	T30A	probably benign	Het
Gskip	C	A	12: 105,698,897	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 33,776,465	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,419,177	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,798,190	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Igdcc4	C	T	9: 65,133,758	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,382,269		probably null	Het
Knl1	T	C	2: 119,095,133	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,285,230	E518G	unknown	Het
Mlh1	A	G	9: 111,229,890	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,398,940	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,708	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035	I33F	probably benign	Het
Mylk	C	T	16: 34,894,814	P504L	probably benign	Het
Ntrk3	C	T	7: 78,250,873	A573T	probably benign	Het
Obscn	G	T	11: 58,998,265	S7560R	unknown	Het
Olfr24	A	G	9: 18,754,882	F251S	possibly damaging	Het
Olfr617	A	C	7: 103,584,930	T303P	probably damaging	Het
Pde1c	T	C	6: 56,150,628	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,288,976	H19L	probably benign	Het
Plce1	C	A	19: 38,524,752	A165E	probably benign	Het
Polr1a	T	C	6: 71,913,021	S75P	probably benign	Het
Psg21	T	C	7: 18,654,783	E128G	probably benign	Het
Radil	A	T	5: 142,494,795	M635K	probably damaging	Het
Radil	A	G	5: 142,506,613	I420T	probably damaging	Het
Rnase11	G	A	14: 51,049,572	T175I	probably damaging	Het
Robo1	C	T	16: 72,563,738	P13S		Het
Slc18a2	C	A	19: 59,284,358	A364D	probably benign	Het
Snph	C	T	2: 151,594,586	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,392,264	K70R	possibly damaging	Het
Snx33	T	C	9: 56,926,713	D24G	probably benign	Het
Spag6	T	A	2: 18,731,962	D165E	possibly damaging	Het
Spata31	T	G	13: 64,921,592	L518R	probably damaging	Het
Sspo	G	A	6: 48,489,727	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,679,979	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,256,658	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,474,829	T40A	unknown	Het
Terb2	G	T	2: 122,186,475	G26W	probably damaging	Het
Tmem62	T	C	2: 120,996,440	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,844,732	V582I	probably benign	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Unc13c	T	C	9: 73,669,535	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Vmn1r48	C	A	6: 90,035,980	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,173,640	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,067,308	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,066,231	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,986,742	D992E	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
R7372:Evc2	UTSW	5	37387133	missense	probably damaging	0.98
R7376:Evc2	UTSW	5	37370639	missense	possibly damaging	0.57
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
R9097:Evc2	UTSW	5	37393161	missense	possibly damaging	0.66
R9151:Evc2	UTSW	5	37347479	missense	probably benign	0.00
R9261:Evc2	UTSW	5	37380551	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGTCCTGCTCATTCAATTGC -3'
(R):5'- TCCAGTGCATCCTGCTGTAG -3'

Sequencing Primer
(F):5'- TTCCCGCCAGCACAAGGAG -3'
(R):5'- AGCTCCTGGCCACGTTC -3'

Posted On

2019-10-24