Incidental Mutation 'R7607:Evc2'
ID 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 5
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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