Mutagenetix > Incidental Mutation

Incidental Mutation 'R4754:Evc2'

357789

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4754 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37495843-37582399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37544375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 708 (R708L)

Ref Sequence

ENSEMBL: ENSMUSP00000055130 (fasta)

Gene Model

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

AlphaFold

Q8K1G2

Predicted Effect

probably damaging
Transcript: ENSMUST00000056365
AA Change: R708L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: R708L

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

noncoding transcript
Transcript: ENSMUST00000159915

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (107/109)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,856,837 (GRCm39)	Y63C	probably damaging	Het
Abcb4	C	A	5: 8,960,717 (GRCm39)	F266L	probably damaging	Het
Adam8	A	T	7: 139,564,693 (GRCm39)	I681N	possibly damaging	Het
Adgrf3	T	A	5: 30,402,615 (GRCm39)		probably null	Het
Ang2	A	G	14: 51,432,974 (GRCm39)	V136A	probably damaging	Het
Ankar	C	T	1: 72,737,853 (GRCm39)	G110R	probably damaging	Het
Ap3b1	T	C	13: 94,540,468 (GRCm39)	L130P	probably damaging	Het
Apc2	T	G	10: 80,150,192 (GRCm39)	W1749G	probably benign	Het
Asb2	T	C	12: 103,290,096 (GRCm39)	N565S	possibly damaging	Het
B3gnt7	C	A	1: 86,233,279 (GRCm39)	T58K	probably benign	Het
Bltp1	C	T	3: 37,076,615 (GRCm39)	Q3663*	probably null	Het
Brpf1	T	A	6: 113,297,408 (GRCm39)	N876K	possibly damaging	Het
Ccdc157	T	C	11: 4,098,994 (GRCm39)	I69V	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 104,912,410 (GRCm39)	I555F	probably damaging	Het
Cfap73	T	C	5: 120,767,729 (GRCm39)	D274G	probably damaging	Het
Chd5	T	A	4: 152,462,203 (GRCm39)	I1310N	probably damaging	Het
Ckap2	T	A	8: 22,658,911 (GRCm39)	I611F	possibly damaging	Het
Cpeb2	A	G	5: 43,443,200 (GRCm39)	I964V	possibly damaging	Het
Ctbp2	C	A	7: 132,625,287 (GRCm39)		probably null	Het
Dhrs2	A	T	14: 55,476,205 (GRCm39)	I142F	probably damaging	Het
Dnah5	T	A	15: 28,421,101 (GRCm39)		probably null	Het
Dst	T	C	1: 34,251,390 (GRCm39)	S1822P	probably damaging	Het
Ect2	T	C	3: 27,181,112 (GRCm39)	K581E	probably damaging	Het
Edem1	C	T	6: 108,818,658 (GRCm39)	T222M	probably damaging	Het
Eif2ak1	A	G	5: 143,838,621 (GRCm39)	M592V	probably damaging	Het
Endou	T	G	15: 97,624,420 (GRCm39)	D49A	probably damaging	Het
Ensa	A	G	3: 95,529,865 (GRCm39)		probably benign	Het
Fam120b	T	A	17: 15,643,224 (GRCm39)	C668S	probably damaging	Het
Fam135a	A	T	1: 24,067,835 (GRCm39)	C798*	probably null	Het
Fam135b	T	C	15: 71,334,800 (GRCm39)	D798G	probably benign	Het
Fshb	A	C	2: 106,887,627 (GRCm39)	*131E	probably null	Het
G3bp2	C	T	5: 92,202,768 (GRCm39)	V441M	possibly damaging	Het
Galnt6	A	T	15: 100,597,105 (GRCm39)	F354I	probably damaging	Het
Gm1123	A	T	9: 98,905,294 (GRCm39)		probably null	Het
Gm1123	C	A	9: 98,905,293 (GRCm39)		probably null	Het
Gm15130	T	C	2: 110,973,207 (GRCm39)	N115S	unknown	Het
Gm7104	A	G	12: 88,252,765 (GRCm39)		noncoding transcript	Het
Gm9762	A	T	3: 78,873,728 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,756,173 (GRCm39)	T505A	probably damaging	Het
Grip2	A	G	6: 91,756,163 (GRCm39)	V508A	probably damaging	Het
Haus4	A	G	14: 54,787,349 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,408,488 (GRCm39)	D4571E	probably benign	Het
Hnrnpk	T	A	13: 58,546,950 (GRCm39)		probably benign	Het
Ica1l	T	C	1: 60,067,321 (GRCm39)	Y23C	probably damaging	Het
Kansl2-ps	A	G	7: 72,322,881 (GRCm39)		noncoding transcript	Het
Kcnma1	T	C	14: 23,413,904 (GRCm39)	D833G	probably damaging	Het
Kmt2e	A	T	5: 23,687,439 (GRCm39)	I430F	possibly damaging	Het
Lama2	C	A	10: 26,994,527 (GRCm39)	R1794L	possibly damaging	Het
Mcpt1	T	A	14: 56,256,137 (GRCm39)	F59I	probably damaging	Het
Mib2	G	T	4: 155,739,822 (GRCm39)	T783K	possibly damaging	Het
Nlrp4g	T	C	9: 124,349,788 (GRCm38)		noncoding transcript	Het
Nudt16l2	A	T	9: 105,021,592 (GRCm39)	F151L	probably benign	Het
Obscn	T	C	11: 58,926,869 (GRCm39)	I6352V	possibly damaging	Het
Or2j6	C	T	7: 139,980,072 (GRCm39)	A296T	probably damaging	Het
Or4a72	A	T	2: 89,405,391 (GRCm39)	H226Q	probably benign	Het
Or4k1	T	A	14: 50,377,490 (GRCm39)	N202I	possibly damaging	Het
Or4k1	T	G	14: 50,377,491 (GRCm39)	N202H	probably benign	Het
Or52a5	T	C	7: 103,426,875 (GRCm39)	I226V	probably benign	Het
Or5b125-ps1	T	A	19: 13,056,225 (GRCm39)		noncoding transcript	Het
Pcdh10	G	A	3: 45,335,072 (GRCm39)	R462H	probably damaging	Het
Pcdhga12	C	A	18: 37,899,604 (GRCm39)	N145K	probably damaging	Het
Pik3r6	T	A	11: 68,435,601 (GRCm39)	L613Q	probably damaging	Het
Pknox2	T	C	9: 36,821,016 (GRCm39)	D282G	probably damaging	Het
Plod2	T	G	9: 92,488,584 (GRCm39)	Y624*	probably null	Het
Prkd3	C	A	17: 79,264,043 (GRCm39)	V684F	probably damaging	Het
Ptpn1	T	A	2: 167,816,080 (GRCm39)	V198D	probably damaging	Het
Ptpn12	G	T	5: 21,203,587 (GRCm39)	P397Q	probably benign	Het
Rad1	C	A	15: 10,493,212 (GRCm39)		probably benign	Het
Rasl11a	A	G	5: 146,783,825 (GRCm39)	D90G	probably benign	Het
Rnf181	A	G	6: 72,337,543 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,587,984 (GRCm39)	I2652M	possibly damaging	Het
Siglecg	C	T	7: 43,061,295 (GRCm39)		probably benign	Het
Slc22a3	T	C	17: 12,726,082 (GRCm39)	S44G	probably benign	Het
Slc38a1	A	T	15: 96,474,663 (GRCm39)	F463I	probably damaging	Het
Smg1	A	T	7: 117,755,954 (GRCm39)		probably benign	Het
Syk	T	C	13: 52,766,295 (GRCm39)		probably benign	Het
Tasor	A	T	14: 27,183,052 (GRCm39)	I504L	probably benign	Het
Tbc1d5	T	C	17: 51,107,193 (GRCm39)	I454M	probably benign	Het
Tmed6	C	A	8: 107,790,362 (GRCm39)	D146Y	probably damaging	Het
Tmem132e	A	T	11: 82,335,677 (GRCm39)	K828*	probably null	Het
Tmprss15	A	T	16: 78,851,012 (GRCm39)	S294T	probably damaging	Het
Trp53bp1	A	G	2: 121,038,360 (GRCm39)	S1493P	probably damaging	Het
Tshb	A	T	3: 102,685,491 (GRCm39)	I46N	probably damaging	Het
Tspan11	T	C	6: 127,915,183 (GRCm39)	V99A	probably benign	Het
Ttn	T	C	2: 76,545,905 (GRCm39)	T24176A	probably benign	Het
Vmn1r8	T	C	6: 57,012,952 (GRCm39)	M1T	probably null	Het
Vmn2r104	A	T	17: 20,261,030 (GRCm39)	Y464*	probably null	Het
Vmn2r110	T	C	17: 20,816,458 (GRCm39)	T22A	probably benign	Het
Vmn2r17	T	A	5: 109,600,715 (GRCm39)	I671K	probably damaging	Het
Zbtb21	T	C	16: 97,752,466 (GRCm39)	N606D	probably damaging	Het
Zfy2	A	T	Y: 2,121,477 (GRCm39)	S139T	probably benign	Het
Zkscan17	G	A	11: 59,393,851 (GRCm39)	R156*	probably null	Het
Zp2	A	G	7: 119,737,541 (GRCm39)	V248A	probably benign	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
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
R7607:Evc2	UTSW	5	37,544,200 (GRCm39)	missense	possibly damaging	0.94
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'- GGTCCTGCTCATTCAATTGC -3'
(R):5'- GCGGTGACAATAAGCAGCTC -3'

Sequencing Primer
(F):5'- AGTCCAGTACCTGCACCAGTG -3'
(R):5'- GGTGACAATAAGCAGCTCAAATTATG -3'

Posted On

2015-11-11