Incidental Mutation 'R5847:Evc2'
ID 453662
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 044065-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 37495843-37582399 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 37562068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000055130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056365]
AlphaFold Q8K1G2
Predicted Effect probably benign
Transcript: ENSMUST00000056365
SMART Domains Protein: ENSMUSP00000055130
Gene: ENSMUSG00000050248

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: ENSMUST00000079794
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Aoc1l2 T A 6: 48,910,412 (GRCm39) F701L probably damaging Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R probably damaging 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
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
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'- CTGGTGGGCAATGTTGACAG -3'
(R):5'- CTTTTGGCTCAGAGGAAGCTAC -3'

Sequencing Primer
(F):5'- GGGCAATGTTGACAGTTTCATC -3'
(R):5'- CAGAGGAAGCTACTGTGCAACTTTC -3'
Posted On 2017-02-10