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

045677-MU

Accession Numbers

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 (GRCm38)	H30Q	probably damaging	Het
1700012P22Rik	T	A	4: 144,419,762 (GRCm38)	H107L	probably damaging	Het
A930009A15Rik	G	A	10: 115,581,989 (GRCm38)		probably null	Het
Abca7	T	C	10: 80,011,833 (GRCm38)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,849,459 (GRCm38)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,712,419 (GRCm38)	A169V	probably damaging	Het
Atat1	T	C	17: 35,909,107 (GRCm38)	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,011 (GRCm38)		probably null	Het
Atp7b	T	G	8: 22,011,506 (GRCm38)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,814,321 (GRCm38)	V112A	possibly damaging	Het
Cobll1	T	C	2: 65,095,857 (GRCm38)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,918,331 (GRCm38)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,984,981 (GRCm38)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,195,069 (GRCm38)	R948*	probably null	Het
Dhrs3	A	G	4: 144,923,940 (GRCm38)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm38)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm38)	V78A	probably damaging	Het
Exoc6b	T	A	6: 84,989,409 (GRCm38)	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,662,732 (GRCm38)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,591,936 (GRCm38)	L156*	probably null	Het
Gk5	A	T	9: 96,153,210 (GRCm38)		probably null	Het
Gm3573	A	G	14: 42,189,750 (GRCm38)	F8L	probably benign	Het
Gm906	T	C	13: 50,250,260 (GRCm38)	E2G	possibly damaging	Het
Gm9767	G	A	10: 26,078,940 (GRCm38)	C130Y	unknown	Het
Grip2	T	C	6: 91,788,412 (GRCm38)	T30A	probably benign	Het
Gskip	C	A	12: 105,698,897 (GRCm38)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 33,776,465 (GRCm38)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,419,177 (GRCm38)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,798,190 (GRCm38)	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 120,097,911 (GRCm38)	1141	probably null	Het
Igdcc4	C	T	9: 65,133,758 (GRCm38)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,382,269 (GRCm38)		probably null	Het
Knl1	T	C	2: 119,095,133 (GRCm38)	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,285,230 (GRCm38)	E518G	unknown	Het
Mlh1	A	G	9: 111,229,890 (GRCm38)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,398,940 (GRCm38)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,708 (GRCm38)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm38)	I33F	probably benign	Het
Mylk	C	T	16: 34,894,814 (GRCm38)	P504L	probably benign	Het
Ntrk3	C	T	7: 78,250,873 (GRCm38)	A573T	probably benign	Het
Obscn	G	T	11: 58,998,265 (GRCm38)	S7560R	unknown	Het
Olfr24	A	G	9: 18,754,882 (GRCm38)	F251S	possibly damaging	Het
Olfr617	A	C	7: 103,584,930 (GRCm38)	T303P	probably damaging	Het
Pde1c	T	C	6: 56,150,628 (GRCm38)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,288,976 (GRCm38)	H19L	probably benign	Het
Plce1	C	A	19: 38,524,752 (GRCm38)	A165E	probably benign	Het
Polr1a	T	C	6: 71,913,021 (GRCm38)	S75P	probably benign	Het
Psg21	T	C	7: 18,654,783 (GRCm38)	E128G	probably benign	Het
Radil	A	T	5: 142,494,795 (GRCm38)	M635K	probably damaging	Het
Radil	A	G	5: 142,506,613 (GRCm38)	I420T	probably damaging	Het
Rnase11	G	A	14: 51,049,572 (GRCm38)	T175I	probably damaging	Het
Robo1	C	T	16: 72,563,738 (GRCm38)	P13S		Het
Slc18a2	C	A	19: 59,284,358 (GRCm38)	A364D	probably benign	Het
Snph	C	T	2: 151,594,586 (GRCm38)	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,392,264 (GRCm38)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,926,713 (GRCm38)	D24G	probably benign	Het
Spag6	T	A	2: 18,731,962 (GRCm38)	D165E	possibly damaging	Het
Spata31	T	G	13: 64,921,592 (GRCm38)	L518R	probably damaging	Het
Sspo	G	A	6: 48,489,727 (GRCm38)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,679,979 (GRCm38)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,256,658 (GRCm38)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,474,829 (GRCm38)	T40A	unknown	Het
Terb2	G	T	2: 122,186,475 (GRCm38)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,996,440 (GRCm38)	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,844,732 (GRCm38)	V582I	probably benign	Het
Tpsg1	G	T	17: 25,373,210 (GRCm38)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,669,535 (GRCm38)	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573 (GRCm38)		probably benign	Het
Vmn1r48	C	A	6: 90,035,980 (GRCm38)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,173,640 (GRCm38)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,067,308 (GRCm38)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,066,231 (GRCm38)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,986,742 (GRCm38)	D992E	possibly damaging	Het

Other mutations in Evc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Evc2	APN	5	37,421,891 (GRCm38)	missense	probably benign	0.26
IGL01294:Evc2	APN	5	37,347,510 (GRCm38)	critical splice donor site	probably null
IGL01547:Evc2	APN	5	37,393,087 (GRCm38)	missense	probably benign	0.09
IGL02233:Evc2	APN	5	37,378,337 (GRCm38)	missense	probably damaging	0.99
IGL02253:Evc2	APN	5	37,378,427 (GRCm38)	splice site	probably benign
IGL02993:Evc2	APN	5	37,419,157 (GRCm38)	missense	probably benign	0.01
R0010:Evc2	UTSW	5	37,417,449 (GRCm38)	missense	probably damaging	1.00
R0010:Evc2	UTSW	5	37,417,449 (GRCm38)	missense	probably damaging	1.00
R0324:Evc2	UTSW	5	37,393,099 (GRCm38)	missense	probably damaging	1.00
R0441:Evc2	UTSW	5	37,417,467 (GRCm38)	missense	probably damaging	1.00
R0454:Evc2	UTSW	5	37,417,484 (GRCm38)	missense	possibly damaging	0.78
R1291:Evc2	UTSW	5	37,386,815 (GRCm38)	missense	probably damaging	1.00
R1433:Evc2	UTSW	5	37,393,083 (GRCm38)	missense	probably damaging	1.00
R1485:Evc2	UTSW	5	37,370,556 (GRCm38)	missense	probably benign	0.30
R1491:Evc2	UTSW	5	37,393,197 (GRCm38)	critical splice donor site	probably null
R1502:Evc2	UTSW	5	37,393,096 (GRCm38)	missense	probably benign
R1662:Evc2	UTSW	5	37,348,750 (GRCm38)	missense	probably benign	0.00
R1891:Evc2	UTSW	5	37,392,079 (GRCm38)	missense	probably damaging	1.00
R1965:Evc2	UTSW	5	37,363,532 (GRCm38)	missense	possibly damaging	0.73
R1983:Evc2	UTSW	5	37,415,931 (GRCm38)	nonsense	probably null
R2160:Evc2	UTSW	5	37,380,518 (GRCm38)	missense	possibly damaging	0.87
R2237:Evc2	UTSW	5	37,378,183 (GRCm38)	missense	probably benign	0.22
R3926:Evc2	UTSW	5	37,383,230 (GRCm38)	missense	probably damaging	1.00
R3953:Evc2	UTSW	5	37,380,587 (GRCm38)	critical splice donor site	probably null
R3959:Evc2	UTSW	5	37,415,776 (GRCm38)	missense	possibly damaging	0.63
R4281:Evc2	UTSW	5	37,338,594 (GRCm38)	missense	probably benign	0.33
R4366:Evc2	UTSW	5	37,338,669 (GRCm38)	missense	possibly damaging	0.93
R4707:Evc2	UTSW	5	37,421,860 (GRCm38)	missense	probably benign	0.08
R4754:Evc2	UTSW	5	37,387,031 (GRCm38)	missense	probably damaging	0.99
R5373:Evc2	UTSW	5	37,378,210 (GRCm38)	missense	probably damaging	1.00
R5593:Evc2	UTSW	5	37,386,977 (GRCm38)	missense	probably damaging	0.99
R5697:Evc2	UTSW	5	37,370,608 (GRCm38)	missense	probably damaging	1.00
R5847:Evc2	UTSW	5	37,404,724 (GRCm38)	intron	probably benign
R5874:Evc2	UTSW	5	37,417,539 (GRCm38)	intron	probably benign
R6023:Evc2	UTSW	5	37,348,616 (GRCm38)	missense	probably benign	0.13
R6285:Evc2	UTSW	5	37,424,579 (GRCm38)	missense	possibly damaging	0.86
R6394:Evc2	UTSW	5	37,378,275 (GRCm38)	missense	probably damaging	1.00
R6567:Evc2	UTSW	5	37,419,164 (GRCm38)	missense	probably benign	0.17
R6669:Evc2	UTSW	5	37,378,378 (GRCm38)	missense	possibly damaging	0.88
R7039:Evc2	UTSW	5	37,421,888 (GRCm38)	missense	probably damaging	1.00
R7131:Evc2	UTSW	5	37,410,258 (GRCm38)	missense	probably damaging	1.00
R7144:Evc2	UTSW	5	37,386,839 (GRCm38)	missense	probably damaging	0.97
R7372:Evc2	UTSW	5	37,387,133 (GRCm38)	missense	probably damaging	0.98
R7376:Evc2	UTSW	5	37,370,639 (GRCm38)	missense	possibly damaging	0.57
R7915:Evc2	UTSW	5	37,386,862 (GRCm38)	missense	probably damaging	0.98
R8144:Evc2	UTSW	5	37,380,567 (GRCm38)	missense	probably damaging	1.00
R8506:Evc2	UTSW	5	37,383,142 (GRCm38)	missense	probably damaging	1.00
R9097:Evc2	UTSW	5	37,393,161 (GRCm38)	missense	possibly damaging	0.66
R9151:Evc2	UTSW	5	37,347,479 (GRCm38)	missense	probably benign	0.00
R9261:Evc2	UTSW	5	37,380,551 (GRCm38)	missense	probably benign	0.00
R9612:Evc2	UTSW	5	37,386,786 (GRCm38)	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