Mutagenetix > Incidental Mutation

Incidental Mutation 'R1502:Evc2'

169346

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

039552-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37495843-37582399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37550440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 818 (L818P)

Ref Sequence

ENSEMBL: ENSMUSP00000055130 (fasta)

Gene Model

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

AlphaFold

Q8K1G2

Predicted Effect

probably benign
Transcript: ENSMUST00000056365
AA Change: L818P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: L818P

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: ENSMUST00000159915

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.4%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	G	11: 109,865,471 (GRCm39)	T329P	probably damaging	Het
Adamts4	C	A	1: 171,086,559 (GRCm39)	P784T	probably damaging	Het
Adamts6	T	C	13: 104,630,145 (GRCm39)	L1096P	probably damaging	Het
Ap1b1	A	G	11: 4,990,290 (GRCm39)	S849G	probably benign	Het
Arap2	T	C	5: 62,761,747 (GRCm39)	S1660G	probably benign	Het
Atp10b	A	C	11: 43,121,174 (GRCm39)	T946P	probably damaging	Het
Brpf1	A	G	6: 113,299,381 (GRCm39)	D1103G	probably damaging	Het
Bub1	A	G	2: 127,669,339 (GRCm39)	Y102H	probably damaging	Het
Ccdc182	A	G	11: 88,185,193 (GRCm39)	E91G	probably benign	Het
Cd200r4	C	T	16: 44,653,803 (GRCm39)	T154M	probably damaging	Het
Cdh20	A	G	1: 104,881,755 (GRCm39)	T407A	probably benign	Het
Col6a2	T	C	10: 76,450,512 (GRCm39)	I140V	probably benign	Het
Csn3	C	A	5: 88,077,983 (GRCm39)	T163K	probably damaging	Het
Dars2	A	T	1: 160,874,375 (GRCm39)	L438*	probably null	Het
Dbr1	T	C	9: 99,464,440 (GRCm39)	L289P	probably damaging	Het
Ddx46	A	G	13: 55,811,122 (GRCm39)	R573G	possibly damaging	Het
Defb10	T	C	8: 22,348,972 (GRCm39)	I10T	possibly damaging	Het
Dis3l	T	C	9: 64,233,069 (GRCm39)	E136G	possibly damaging	Het
Dnajb13	T	C	7: 100,156,668 (GRCm39)	Q136R	probably benign	Het
Dse	A	T	10: 34,029,214 (GRCm39)	S625R	probably damaging	Het
Dvl3	A	G	16: 20,342,209 (GRCm39)	D94G	probably damaging	Het
Dynlt2a2	A	G	17: 15,187,876 (GRCm39)	F133L	probably benign	Het
E130311K13Rik	A	C	3: 63,822,968 (GRCm39)	Y225*	probably null	Het
Etnppl	A	G	3: 130,422,438 (GRCm39)	I222V	probably benign	Het
Fbn1	A	T	2: 125,205,626 (GRCm39)	C1083*	probably null	Het
Flnc	G	A	6: 29,438,693 (GRCm39)	V196I	probably benign	Het
Fscn3	A	G	6: 28,435,622 (GRCm39)	D415G	probably benign	Het
Gm4861	A	C	3: 137,256,381 (GRCm39)	V75G	probably damaging	Het
Gpld1	A	T	13: 25,155,399 (GRCm39)	T345S	probably benign	Het
Grik4	T	C	9: 42,432,169 (GRCm39)	S943G	probably damaging	Het
Grik4	C	T	9: 42,502,743 (GRCm39)	R460Q	probably benign	Het
Ifi207	A	C	1: 173,556,872 (GRCm39)	L629R	possibly damaging	Het
Ift52	G	A	2: 162,871,782 (GRCm39)		probably null	Het
Insl3	A	G	8: 72,142,876 (GRCm39)	D79G	probably damaging	Het
Kif5a	A	T	10: 127,081,310 (GRCm39)	I208N	probably damaging	Het
Lag3	T	C	6: 124,886,206 (GRCm39)	Y249C	probably damaging	Het
Lipe	T	C	7: 25,097,572 (GRCm39)	N124D	possibly damaging	Het
Lnpep	A	G	17: 17,791,906 (GRCm39)	Y412H	probably damaging	Het
Lrtm2	A	G	6: 119,294,235 (GRCm39)	Y299H	probably benign	Het
Lypd4	T	C	7: 24,566,253 (GRCm39)	T24A	probably benign	Het
Magi1	T	A	6: 93,671,151 (GRCm39)	I805F	probably damaging	Het
Mfap3	T	C	11: 57,418,975 (GRCm39)	L45P	probably benign	Het
Nbea	G	A	3: 55,912,310 (GRCm39)	P1159L	probably benign	Het
Ndst4	A	T	3: 125,231,407 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,374,335 (GRCm39)	N229K	possibly damaging	Het
Nova1	A	G	12: 46,767,615 (GRCm39)	I102T	unknown	Het
Npepps	T	C	11: 97,109,401 (GRCm39)	E725G	possibly damaging	Het
Or11g27	A	T	14: 50,771,234 (GRCm39)	M122L	possibly damaging	Het
Or13a1	T	C	6: 116,471,242 (GRCm39)	I224T	probably damaging	Het
Or5l14	T	C	2: 87,792,379 (GRCm39)	N286D	probably damaging	Het
Or6c69c	T	C	10: 129,910,741 (GRCm39)	I154T	probably damaging	Het
Pappa2	A	T	1: 158,784,858 (GRCm39)	W51R	probably damaging	Het
Pde8a	T	C	7: 80,942,007 (GRCm39)	S149P	probably damaging	Het
Pgap6	A	G	17: 26,339,290 (GRCm39)	T535A	possibly damaging	Het
Phkb	T	A	8: 86,785,968 (GRCm39)	L1052Q	possibly damaging	Het
Pou5f2	T	A	13: 78,173,370 (GRCm39)	L104Q	probably benign	Het
Pramel32	T	A	4: 88,546,269 (GRCm39)	I358F	probably benign	Het
Psme2b	A	T	11: 48,836,576 (GRCm39)	W124R	probably damaging	Het
Ptk2b	G	A	14: 66,400,529 (GRCm39)	S762L	possibly damaging	Het
Ptprs	T	C	17: 56,744,992 (GRCm39)	N248S	probably benign	Het
Rgs22	G	A	15: 36,080,997 (GRCm39)	T705I	probably damaging	Het
Rnf123	T	C	9: 107,945,709 (GRCm39)		probably null	Het
Sel1l2	A	T	2: 140,231,515 (GRCm39)	I13N	probably damaging	Het
Slc39a4	T	C	15: 76,500,793 (GRCm39)	T57A	probably benign	Het
Smpdl3a	T	G	10: 57,685,187 (GRCm39)	V319G	probably damaging	Het
Syt9	T	C	7: 107,035,694 (GRCm39)	L237P	probably damaging	Het
Tbc1d16	G	T	11: 119,044,830 (GRCm39)	A536E	probably damaging	Het
Tcf20	T	C	15: 82,739,777 (GRCm39)	D558G	probably damaging	Het
Tdpoz2	A	T	3: 93,559,453 (GRCm39)	M173K	probably benign	Het
Tek	A	G	4: 94,669,339 (GRCm39)	I113M	probably damaging	Het
Tmem50a	A	T	4: 134,636,980 (GRCm39)	D50E	probably benign	Het
Trappc11	A	T	8: 47,983,862 (GRCm39)	V10E	possibly damaging	Het
Vmn1r172	C	T	7: 23,359,681 (GRCm39)	R189*	probably null	Het
Vmn2r63	A	T	7: 42,578,015 (GRCm39)	D174E	possibly damaging	Het
Zc3h10	A	T	10: 128,380,151 (GRCm39)	M402K	probably damaging	Het
Zfp109	T	C	7: 23,927,588 (GRCm39)	H615R	probably damaging	Het
Zfp982	A	C	4: 147,597,126 (GRCm39)	H161P	probably benign	Het
Zhx1	A	G	15: 57,917,992 (GRCm39)	F85L	probably 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
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
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'- AAGATGAAGCCCTTGCATCCCTG -3'
(R):5'- AATGCTCCTGCACATGGTCCTG -3'

Sequencing Primer
(F):5'- AGTCTAGTCAAGTGTCAGCTCTATG -3'
(R):5'- GCCTGCACAGCATATTTGAG -3'

Posted On

2014-04-13