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

Ellis van Creveld syndrome 2, 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

37495843-37582399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37544200 bp (GRCm39)

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: 70,128,383 (GRCm39)	H30Q	probably damaging	Het
A930009A15Rik	G	A	10: 115,417,894 (GRCm39)		probably null	Het
Abca7	T	C	10: 79,847,667 (GRCm39)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,997,325 (GRCm39)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,689,382 (GRCm39)	A169V	probably damaging	Het
Atat1	T	C	17: 36,219,999 (GRCm39)	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,255 (GRCm39)		probably null	Het
Atp7b	T	G	8: 22,501,522 (GRCm39)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,548,246 (GRCm39)	V112A	possibly damaging	Het
Cfap107	T	A	4: 144,146,332 (GRCm39)	H107L	probably damaging	Het
Cobll1	T	C	2: 64,926,201 (GRCm39)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,968,331 (GRCm39)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,921,791 (GRCm39)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,172,051 (GRCm39)	R948*	probably null	Het
Dhrs3	A	G	4: 144,650,510 (GRCm39)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm39)	V78A	probably damaging	Het
Exoc6b	T	A	6: 84,966,391 (GRCm39)	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,534,581 (GRCm39)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,596,747 (GRCm39)	L156*	probably null	Het
Gk5	A	T	9: 96,035,263 (GRCm39)		probably null	Het
Gm3573	A	G	14: 42,011,707 (GRCm39)	F8L	probably benign	Het
Gm9767	G	A	10: 25,954,838 (GRCm39)	C130Y	unknown	Het
Grip2	T	C	6: 91,765,393 (GRCm39)	T30A	probably benign	Het
Gskip	C	A	12: 105,665,156 (GRCm39)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 34,266,493 (GRCm39)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,656,626 (GRCm39)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,775,151 (GRCm39)	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igdcc4	C	T	9: 65,041,040 (GRCm39)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,212,750 (GRCm39)		probably null	Het
Knl1	T	C	2: 118,925,614 (GRCm39)	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,121,099 (GRCm39)	E518G	unknown	Het
Mlh1	A	G	9: 111,058,958 (GRCm39)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,120,897 (GRCm39)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,794 (GRCm39)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm39)	I33F	probably benign	Het
Mylk	C	T	16: 34,715,184 (GRCm39)	P504L	probably benign	Het
Ntrk3	C	T	7: 77,900,621 (GRCm39)	A573T	probably benign	Het
Obscn	G	T	11: 58,889,091 (GRCm39)	S7560R	unknown	Het
Or1m1	A	G	9: 18,666,178 (GRCm39)	F251S	possibly damaging	Het
Or52z12	A	C	7: 103,234,137 (GRCm39)	T303P	probably damaging	Het
Pde1c	T	C	6: 56,127,613 (GRCm39)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,119,457 (GRCm39)	H19L	probably benign	Het
Plce1	C	A	19: 38,513,196 (GRCm39)	A165E	probably benign	Het
Polr1a	T	C	6: 71,890,005 (GRCm39)	S75P	probably benign	Het
Psg21	T	C	7: 18,388,708 (GRCm39)	E128G	probably benign	Het
Radil	A	G	5: 142,492,368 (GRCm39)	I420T	probably damaging	Het
Radil	A	T	5: 142,480,550 (GRCm39)	M635K	probably damaging	Het
Rnase11	G	A	14: 51,287,029 (GRCm39)	T175I	probably damaging	Het
Robo1	C	T	16: 72,360,626 (GRCm39)	P13S		Het
Slc18a2	C	A	19: 59,272,790 (GRCm39)	A364D	probably benign	Het
Snph	C	T	2: 151,436,506 (GRCm39)	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,041,688 (GRCm39)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,833,997 (GRCm39)	D24G	probably benign	Het
Spag6	T	A	2: 18,736,773 (GRCm39)	D165E	possibly damaging	Het
Spata31	T	G	13: 65,069,406 (GRCm39)	L518R	probably damaging	Het
Spata31e3	T	C	13: 50,404,296 (GRCm39)	E2G	possibly damaging	Het
Sspo	G	A	6: 48,466,661 (GRCm39)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,163,941 (GRCm39)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,475,866 (GRCm39)	T40A	unknown	Het
Terb2	G	T	2: 122,016,956 (GRCm39)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,826,921 (GRCm39)	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,772,458 (GRCm39)	V582I	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,576,817 (GRCm39)	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn1r48	C	A	6: 90,012,962 (GRCm39)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,321,506 (GRCm39)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,287,570 (GRCm39)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,303,688 (GRCm39)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,843,939 (GRCm39)	D992E	possibly damaging	Het

Other mutations in Evc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Evc2	APN	5	37,579,235 (GRCm39)	missense	probably benign	0.26
IGL01294:Evc2	APN	5	37,504,854 (GRCm39)	critical splice donor site	probably null
IGL01547:Evc2	APN	5	37,550,431 (GRCm39)	missense	probably benign	0.09
IGL02233:Evc2	APN	5	37,535,681 (GRCm39)	missense	probably damaging	0.99
IGL02253:Evc2	APN	5	37,535,771 (GRCm39)	splice site	probably benign
IGL02993:Evc2	APN	5	37,576,501 (GRCm39)	missense	probably benign	0.01
R0010:Evc2	UTSW	5	37,574,793 (GRCm39)	missense	probably damaging	1.00
R0010:Evc2	UTSW	5	37,574,793 (GRCm39)	missense	probably damaging	1.00
R0324:Evc2	UTSW	5	37,550,443 (GRCm39)	missense	probably damaging	1.00
R0441:Evc2	UTSW	5	37,574,811 (GRCm39)	missense	probably damaging	1.00
R0454:Evc2	UTSW	5	37,574,828 (GRCm39)	missense	possibly damaging	0.78
R1291:Evc2	UTSW	5	37,544,159 (GRCm39)	missense	probably damaging	1.00
R1433:Evc2	UTSW	5	37,550,427 (GRCm39)	missense	probably damaging	1.00
R1485:Evc2	UTSW	5	37,527,900 (GRCm39)	missense	probably benign	0.30
R1491:Evc2	UTSW	5	37,550,541 (GRCm39)	critical splice donor site	probably null
R1502:Evc2	UTSW	5	37,550,440 (GRCm39)	missense	probably benign
R1662:Evc2	UTSW	5	37,506,094 (GRCm39)	missense	probably benign	0.00
R1891:Evc2	UTSW	5	37,549,423 (GRCm39)	missense	probably damaging	1.00
R1965:Evc2	UTSW	5	37,520,876 (GRCm39)	missense	possibly damaging	0.73
R1983:Evc2	UTSW	5	37,573,275 (GRCm39)	nonsense	probably null
R2160:Evc2	UTSW	5	37,537,862 (GRCm39)	missense	possibly damaging	0.87
R2237:Evc2	UTSW	5	37,535,527 (GRCm39)	missense	probably benign	0.22
R3926:Evc2	UTSW	5	37,540,574 (GRCm39)	missense	probably damaging	1.00
R3953:Evc2	UTSW	5	37,537,931 (GRCm39)	critical splice donor site	probably null
R3959:Evc2	UTSW	5	37,573,120 (GRCm39)	missense	possibly damaging	0.63
R4281:Evc2	UTSW	5	37,495,938 (GRCm39)	missense	probably benign	0.33
R4366:Evc2	UTSW	5	37,496,013 (GRCm39)	missense	possibly damaging	0.93
R4707:Evc2	UTSW	5	37,579,204 (GRCm39)	missense	probably benign	0.08
R4754:Evc2	UTSW	5	37,544,375 (GRCm39)	missense	probably damaging	0.99
R5373:Evc2	UTSW	5	37,535,554 (GRCm39)	missense	probably damaging	1.00
R5593:Evc2	UTSW	5	37,544,321 (GRCm39)	missense	probably damaging	0.99
R5697:Evc2	UTSW	5	37,527,952 (GRCm39)	missense	probably damaging	1.00
R5847:Evc2	UTSW	5	37,562,068 (GRCm39)	intron	probably benign
R5874:Evc2	UTSW	5	37,574,883 (GRCm39)	intron	probably benign
R6023:Evc2	UTSW	5	37,505,960 (GRCm39)	missense	probably benign	0.13
R6285:Evc2	UTSW	5	37,581,923 (GRCm39)	missense	possibly damaging	0.86
R6394:Evc2	UTSW	5	37,535,619 (GRCm39)	missense	probably damaging	1.00
R6567:Evc2	UTSW	5	37,576,508 (GRCm39)	missense	probably benign	0.17
R6669:Evc2	UTSW	5	37,535,722 (GRCm39)	missense	possibly damaging	0.88
R7039:Evc2	UTSW	5	37,579,232 (GRCm39)	missense	probably damaging	1.00
R7131:Evc2	UTSW	5	37,567,602 (GRCm39)	missense	probably damaging	1.00
R7144:Evc2	UTSW	5	37,544,183 (GRCm39)	missense	probably damaging	0.97
R7372:Evc2	UTSW	5	37,544,477 (GRCm39)	missense	probably damaging	0.98
R7376:Evc2	UTSW	5	37,527,983 (GRCm39)	missense	possibly damaging	0.57
R7915:Evc2	UTSW	5	37,544,206 (GRCm39)	missense	probably damaging	0.98
R8144:Evc2	UTSW	5	37,537,911 (GRCm39)	missense	probably damaging	1.00
R8506:Evc2	UTSW	5	37,540,486 (GRCm39)	missense	probably damaging	1.00
R9097:Evc2	UTSW	5	37,550,505 (GRCm39)	missense	possibly damaging	0.66
R9151:Evc2	UTSW	5	37,504,823 (GRCm39)	missense	probably benign	0.00
R9261:Evc2	UTSW	5	37,537,895 (GRCm39)	missense	probably benign	0.00
R9612:Evc2	UTSW	5	37,544,130 (GRCm39)	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