Incidental Mutation 'R2160:Evc2'
ID 235096
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 040163-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2160 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 37495843-37582399 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37537862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 517 (T517A)
Ref Sequence ENSEMBL: ENSMUSP00000055130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056365]
AlphaFold Q8K1G2
Predicted Effect possibly damaging
Transcript: ENSMUST00000056365
AA Change: T517A

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248
AA Change: T517A

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bpifb9b A G 2: 154,161,595 (GRCm39) N576D possibly damaging Het
Braf C T 6: 39,639,007 (GRCm39) C248Y probably damaging Het
Carmil2 A G 8: 106,423,680 (GRCm39) E1218G possibly damaging Het
Cntnap4 G T 8: 113,484,203 (GRCm39) G419C probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dnah9 C T 11: 66,008,309 (GRCm39) D839N probably damaging Het
Fbxw8 G A 5: 118,263,053 (GRCm39) P209S probably damaging Het
Gcm1 A G 9: 77,968,662 (GRCm39) K121E probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Herc2 A G 7: 55,862,670 (GRCm39) D4077G probably benign Het
Inpp4b T A 8: 82,848,004 (GRCm39) L937* probably null Het
Ipcef1 A T 10: 6,840,650 (GRCm39) I349N probably damaging Het
Ipmk A G 10: 71,217,256 (GRCm39) T267A probably benign Het
Jph3 G T 8: 122,479,970 (GRCm39) R216L possibly damaging Het
Kctd16 A G 18: 40,392,138 (GRCm39) E242G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Krt76 A G 15: 101,796,820 (GRCm39) Y360H probably damaging Het
Lctl A G 9: 64,025,049 (GRCm39) I12V probably benign Het
Lrig3 T C 10: 125,833,565 (GRCm39) V347A possibly damaging Het
Lrrk2 C T 15: 91,680,263 (GRCm39) S2058F probably damaging Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Mon2 T A 10: 122,911,834 (GRCm39) K12* probably null Het
Nup58 A G 14: 60,476,957 (GRCm39) V238A probably benign Het
Pak5 T C 2: 135,940,302 (GRCm39) D504G probably benign Het
Pla2g4e T C 2: 120,015,687 (GRCm39) S286G probably benign Het
Ppfia4 A T 1: 134,241,461 (GRCm39) V498D probably benign Het
Ppfibp1 A G 6: 146,928,951 (GRCm39) E846G probably damaging Het
Ppp3ca G A 3: 136,583,391 (GRCm39) C166Y probably damaging Het
Prpf3 T C 3: 95,752,542 (GRCm39) K244E probably benign Het
Pzp A G 6: 128,502,239 (GRCm39) S37P probably damaging Het
Rab11fip3 G A 17: 26,288,028 (GRCm39) H42Y probably benign Het
Sprn C A 7: 139,733,419 (GRCm39) probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Thap12 A G 7: 98,359,333 (GRCm39) S71G probably damaging Het
Vmn1r7 A G 6: 57,001,879 (GRCm39) F127S probably damaging Het
Vmn2r54 C T 7: 12,349,420 (GRCm39) V721I probably benign Het
Vmn2r56 A G 7: 12,428,146 (GRCm39) F707L probably benign Het
Zfp976 C T 7: 42,263,354 (GRCm39) S161N probably benign 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
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
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'- CCGTCTTCCAAAAGGAGAAGTC -3'
(R):5'- CATTAAGCCATAGCGGAAAGC -3'

Sequencing Primer
(F):5'- CTAATGAGGCACACGTCT -3'
(R):5'- TGTCCCTCATGAGGCTA -3'
Posted On 2014-10-01