Incidental Mutation 'IGL00772:Smo'
ID 14161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smo
Ensembl Gene ENSMUSG00000001761
Gene Name smoothened, frizzled class receptor
Synonyms E130215L21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00772
Quality Score
Status
Chromosome 6
Chromosomal Location 29735502-29761364 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 29758893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 565 (K565*)
Ref Sequence ENSEMBL: ENSMUSP00000001812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001812]
AlphaFold P56726
Predicted Effect probably null
Transcript: ENSMUST00000001812
AA Change: K565*
SMART Domains Protein: ENSMUSP00000001812
Gene: ENSMUSG00000001761
AA Change: K565*

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 55 66 N/A INTRINSIC
FRI 73 187 5.48e-49 SMART
Frizzled 224 559 2.82e-148 SMART
low complexity region 641 652 N/A INTRINSIC
low complexity region 671 684 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]
PHENOTYPE: Both an ENU-induced mutation and a null mutation are midgestation lethal. Observed defects include failure of neural tube closure and heart and gut defects. Conditional knockouts in chondrocytes and dental epithelium result in short long bones and dentalepithelium derivative defects, respectively. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A T 1: 59,209,055 (GRCm39) C1501* probably null Het
Ap3b2 T C 7: 81,121,697 (GRCm39) E513G probably damaging Het
Cdh19 T C 1: 110,876,982 (GRCm39) D119G probably damaging Het
Clasp2 A G 9: 113,735,060 (GRCm39) probably benign Het
Cobl A G 11: 12,216,985 (GRCm39) M419T probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Ctu2 T C 8: 123,203,977 (GRCm39) probably benign Het
Dnah2 A C 11: 69,342,083 (GRCm39) Y2968D probably damaging Het
Eme1 A G 11: 94,536,277 (GRCm39) L564P probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Folh1 A G 7: 86,380,992 (GRCm39) S494P probably damaging Het
Fras1 T A 5: 96,783,971 (GRCm39) I825N probably benign Het
Grk1 A G 8: 13,455,349 (GRCm39) T78A probably benign Het
Lipi A T 16: 75,347,254 (GRCm39) probably benign Het
Mak A T 13: 41,209,296 (GRCm39) probably benign Het
Prkd1 T C 12: 50,430,199 (GRCm39) E636G probably damaging Het
Psmd1 T C 1: 86,017,920 (GRCm39) probably benign Het
Scara5 G A 14: 65,908,011 (GRCm39) probably benign Het
Skint8 A G 4: 111,796,120 (GRCm39) I265V probably benign Het
Slc48a1 A G 15: 97,687,835 (GRCm39) Y63C probably damaging Het
Slc4a2 G T 5: 24,640,194 (GRCm39) V598L probably damaging Het
Spink5 A G 18: 44,139,487 (GRCm39) I617V probably benign Het
Tmed11 T C 5: 108,934,031 (GRCm39) D55G probably benign Het
Tro A G X: 149,438,321 (GRCm39) V112A probably benign Het
Utrn G A 10: 12,524,929 (GRCm39) R2185C probably benign Het
Other mutations in Smo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01969:Smo APN 6 29,755,171 (GRCm39) critical splice acceptor site probably null
IGL02078:Smo APN 6 29,754,707 (GRCm39) missense possibly damaging 0.46
IGL02248:Smo APN 6 29,757,291 (GRCm39) missense possibly damaging 0.69
IGL02496:Smo APN 6 29,758,480 (GRCm39) missense probably damaging 0.99
IGL03159:Smo APN 6 29,758,504 (GRCm39) missense probably benign 0.00
knobby UTSW 6 29,736,173 (GRCm39) missense probably benign
R0548:Smo UTSW 6 29,759,585 (GRCm39) missense possibly damaging 0.45
R0606:Smo UTSW 6 29,753,603 (GRCm39) missense possibly damaging 0.69
R1164:Smo UTSW 6 29,754,718 (GRCm39) missense probably benign 0.18
R1438:Smo UTSW 6 29,755,482 (GRCm39) missense possibly damaging 0.89
R1900:Smo UTSW 6 29,736,055 (GRCm39) missense unknown
R2022:Smo UTSW 6 29,754,715 (GRCm39) missense possibly damaging 0.87
R2023:Smo UTSW 6 29,754,715 (GRCm39) missense possibly damaging 0.87
R2129:Smo UTSW 6 29,757,313 (GRCm39) missense probably damaging 1.00
R4033:Smo UTSW 6 29,759,917 (GRCm39) missense probably damaging 0.98
R4795:Smo UTSW 6 29,755,573 (GRCm39) missense probably damaging 0.99
R4878:Smo UTSW 6 29,753,570 (GRCm39) missense probably benign 0.02
R4920:Smo UTSW 6 29,759,593 (GRCm39) missense probably damaging 1.00
R5165:Smo UTSW 6 29,736,077 (GRCm39) missense unknown
R5350:Smo UTSW 6 29,754,466 (GRCm39) missense probably benign 0.02
R5554:Smo UTSW 6 29,736,123 (GRCm39) missense possibly damaging 0.72
R6409:Smo UTSW 6 29,736,113 (GRCm39) missense unknown
R6440:Smo UTSW 6 29,756,813 (GRCm39) missense possibly damaging 0.93
R6707:Smo UTSW 6 29,736,173 (GRCm39) missense probably benign
R6766:Smo UTSW 6 29,736,044 (GRCm39) missense unknown
R7061:Smo UTSW 6 29,760,229 (GRCm39) missense probably damaging 1.00
R7147:Smo UTSW 6 29,758,448 (GRCm39) missense possibly damaging 0.91
R7491:Smo UTSW 6 29,736,119 (GRCm39) missense probably damaging 0.96
R7500:Smo UTSW 6 29,755,534 (GRCm39) missense probably benign 0.09
R7735:Smo UTSW 6 29,759,851 (GRCm39) missense probably damaging 1.00
R8109:Smo UTSW 6 29,755,522 (GRCm39) missense probably damaging 1.00
R8511:Smo UTSW 6 29,755,531 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06