Incidental Mutation 'R1485:Evc2'
ID 163388
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 039538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1485 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 37495843-37582399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37527900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 303 (A303V)
Ref Sequence ENSEMBL: ENSMUSP00000055130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056365]
AlphaFold Q8K1G2
Predicted Effect probably benign
Transcript: ENSMUST00000056365
AA Change: A303V

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: A303V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101258
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.5%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,727,738 (GRCm39) S301P probably damaging Het
AI987944 C A 7: 41,023,954 (GRCm39) G342* probably null Het
Alox5 A T 6: 116,401,125 (GRCm39) F212I probably damaging Het
Apaf1 A T 10: 90,896,105 (GRCm39) D322E probably benign Het
Aste1 T A 9: 105,275,009 (GRCm39) Y355* probably null Het
Bloc1s6 T G 2: 122,588,063 (GRCm39) probably null Het
Bltp2 A G 11: 78,176,406 (GRCm39) Y1836C probably damaging Het
Castor2 T A 5: 134,165,972 (GRCm39) L240Q probably damaging Het
Ccdc77 G A 6: 120,315,101 (GRCm39) Q183* probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Coch G T 12: 51,645,072 (GRCm39) V209F probably damaging Het
Cops3 G A 11: 59,718,715 (GRCm39) T193M possibly damaging Het
Cped1 T C 6: 22,132,387 (GRCm39) probably null Het
D6Ertd527e A T 6: 87,088,067 (GRCm39) S77C unknown Het
Defb7 A G 8: 19,545,110 (GRCm39) probably null Het
Dnaaf9 A G 2: 130,590,603 (GRCm39) probably null Het
Entpd6 T A 2: 150,610,843 (GRCm39) probably null Het
Fhod1 T C 8: 106,063,430 (GRCm39) probably null Het
Gcn1 T A 5: 115,712,676 (GRCm39) F54I probably benign Het
Gm7104 C A 12: 88,252,333 (GRCm39) noncoding transcript Het
Grid1 A T 14: 34,544,540 (GRCm39) D37V probably damaging Het
Icam5 G A 9: 20,947,702 (GRCm39) A560T probably benign Het
Igf2r A C 17: 12,910,172 (GRCm39) I2019S probably damaging Het
Kcnj9 A G 1: 172,153,929 (GRCm39) V65A probably benign Het
Kif3b T C 2: 153,164,851 (GRCm39) probably null Het
Kmt2a T G 9: 44,738,225 (GRCm39) probably benign Het
Marchf6 T A 15: 31,498,839 (GRCm39) T153S probably damaging Het
Mcam T A 9: 44,048,060 (GRCm39) I72N probably damaging Het
Ncoa4-ps A G 12: 119,224,785 (GRCm39) noncoding transcript Het
Nkain3 T C 4: 20,484,932 (GRCm39) I48M probably damaging Het
Nop58 T A 1: 59,737,504 (GRCm39) I107N probably damaging Het
Notch2 A G 3: 98,007,573 (GRCm39) H441R probably benign Het
Nr1d1 G A 11: 98,661,187 (GRCm39) R360C probably benign Het
Or56a5 A G 7: 104,792,888 (GRCm39) I210T probably benign Het
Pclo T C 5: 14,763,793 (GRCm39) S4089P unknown Het
Pi4kb A G 3: 94,901,698 (GRCm39) E455G probably damaging Het
Piezo1 T C 8: 123,208,788 (GRCm39) Y2525C probably damaging Het
Pik3c2a A G 7: 116,016,908 (GRCm39) V283A possibly damaging Het
Pramel12 G A 4: 143,144,188 (GRCm39) R178Q probably benign Het
Rabgap1l A T 1: 160,561,250 (GRCm39) V161E probably benign Het
Rasa2 A G 9: 96,426,401 (GRCm39) I815T probably benign Het
Rev1 A T 1: 38,127,653 (GRCm39) D202E probably benign Het
Septin14 C T 5: 129,770,118 (GRCm39) A193T probably damaging Het
Sh3tc1 T C 5: 35,876,370 (GRCm39) S112G probably benign Het
Siah3 T A 14: 75,762,994 (GRCm39) Y82N probably benign Het
Slc2a7 T C 4: 150,250,853 (GRCm39) S425P probably damaging Het
Slc9a2 C T 1: 40,765,548 (GRCm39) L313F probably damaging Het
Smdt1 T C 15: 82,230,433 (GRCm39) V50A probably benign Het
Spata31e2 T G 1: 26,724,961 (GRCm39) K73T possibly damaging Het
Supt3 G A 17: 45,347,607 (GRCm39) A197T probably benign Het
Tex10 A G 4: 48,436,492 (GRCm39) I742T possibly damaging Het
Tex44 T A 1: 86,355,640 (GRCm39) H516Q possibly damaging Het
Tfdp1 T G 8: 13,420,917 (GRCm39) D171E probably damaging Het
Trim31 A C 17: 37,209,568 (GRCm39) D108A probably damaging Het
Ubr1 T C 2: 120,791,579 (GRCm39) N135S probably benign Het
Uso1 G A 5: 92,328,422 (GRCm39) V340I possibly damaging Het
Utp6 A C 11: 79,839,749 (GRCm39) V313G probably damaging Het
Vmn2r107 T C 17: 20,595,109 (GRCm39) V554A possibly damaging Het
Xdh C A 17: 74,221,014 (GRCm39) E572* probably null Het
Zbtb7c T C 18: 76,270,061 (GRCm39) S50P probably damaging Het
Zfp672 A G 11: 58,220,395 (GRCm39) probably benign Het
Zzef1 A G 11: 72,791,635 (GRCm39) probably null Het
Other mutations in Evc2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ATGCCTGCCATTACCTAGCACAGC -3'
(R):5'- TGCCGTCAGTGCCAACATCTTC -3'

Sequencing Primer
(F):5'- tccataaccacccccaaaac -3'
(R):5'- AGTGCCAACATCTTCCGCTC -3'
Posted On 2014-03-28