Incidental Mutation 'R4878:Smo'
ID 375060
Institutional Source Beutler Lab
Gene Symbol Smo
Ensembl Gene ENSMUSG00000001761
Gene Name smoothened, frizzled class receptor
Synonyms E130215L21Rik
MMRRC Submission 042487-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4878 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 29735502-29761364 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29753570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 149 (T149A)
Ref Sequence ENSEMBL: ENSMUSP00000001812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001812]
AlphaFold P56726
Predicted Effect probably benign
Transcript: ENSMUST00000001812
AA Change: T149A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000001812
Gene: ENSMUSG00000001761
AA Change: T149A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119868
Meta Mutation Damage Score 0.1129 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 96% (70/73)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 C A 4: 144,340,415 (GRCm39) H47N possibly damaging Het
Adgrg3 A T 8: 95,761,714 (GRCm39) N159I possibly damaging Het
Agrn A T 4: 156,255,302 (GRCm39) L1449Q probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atg2a A T 19: 6,300,274 (GRCm39) E694V probably damaging Het
Ccndbp1 T A 2: 120,845,172 (GRCm39) L363* probably null Het
Cdh16 A T 8: 105,344,696 (GRCm39) D478E probably damaging Het
Cep295 A T 9: 15,246,252 (GRCm39) W735R probably benign Het
Cnnm2 C T 19: 46,847,522 (GRCm39) P682S probably benign Het
Daam2 C A 17: 49,767,738 (GRCm39) R951L probably damaging Het
Dmxl1 T A 18: 49,984,543 (GRCm39) F180I probably damaging Het
Dnajc6 T C 4: 101,456,231 (GRCm39) probably benign Het
Efemp2 A T 19: 5,530,789 (GRCm39) probably benign Het
Emilin1 A G 5: 31,074,410 (GRCm39) D217G probably benign Het
Enpep A T 3: 129,070,420 (GRCm39) M829K probably benign Het
Epb41l4a A G 18: 33,931,625 (GRCm39) V623A probably damaging Het
Erlin2 T A 8: 27,517,194 (GRCm39) probably null Het
Fbln2 T C 6: 91,233,977 (GRCm39) probably null Het
Gga3 A T 11: 115,482,147 (GRCm39) I157N probably damaging Het
Gtpbp6 C T 5: 110,255,177 (GRCm39) probably benign Het
Hps4 T C 5: 112,523,234 (GRCm39) V584A probably benign Het
Ighv1-50 T C 12: 115,083,567 (GRCm39) Y51C probably benign Het
Kif13b T C 14: 65,043,603 (GRCm39) L1801P probably benign Het
Kif16b T C 2: 142,689,923 (GRCm39) I330V probably damaging Het
Klb A T 5: 65,505,833 (GRCm39) R27W probably damaging Het
Lrif1 A T 3: 106,642,956 (GRCm39) K169M probably damaging Het
Lrrc37 A G 11: 103,508,717 (GRCm39) probably benign Het
Met A G 6: 17,549,058 (GRCm39) D970G probably damaging Het
Mical3 A T 6: 120,946,348 (GRCm39) M1051K possibly damaging Het
Mios A G 6: 8,215,094 (GRCm39) N97D probably benign Het
Msh5 G A 17: 35,257,432 (GRCm39) R321C probably damaging Het
Mybpc1 T C 10: 88,387,292 (GRCm39) Q473R possibly damaging Het
Ncoa1 C T 12: 4,325,004 (GRCm39) G970D probably damaging Het
Neb T C 2: 52,109,406 (GRCm39) Y232C probably damaging Het
Nefh A G 11: 4,891,333 (GRCm39) S429P probably damaging Het
Notch3 C T 17: 32,366,059 (GRCm39) G1014D probably damaging Het
Nup107 A T 10: 117,587,323 (GRCm39) C859S probably benign Het
Or1d2 T C 11: 74,255,674 (GRCm39) Y60H probably damaging Het
Or2n1d T G 17: 38,646,518 (GRCm39) F157V probably benign Het
Or5m3b A G 2: 85,871,799 (GRCm39) I47V probably benign Het
Otud7b T A 3: 96,043,821 (GRCm39) probably benign Het
Pde1a A T 2: 79,708,483 (GRCm39) S312T probably benign Het
Piwil1 G T 5: 128,818,045 (GRCm39) R94L probably damaging Het
Pnma2 G A 14: 67,154,503 (GRCm39) W309* probably null Het
Ppef2 A C 5: 92,376,599 (GRCm39) probably null Het
Rabac1 T A 7: 24,669,392 (GRCm39) Q212L possibly damaging Het
Rad51 T C 2: 118,950,973 (GRCm39) probably benign Het
Rbm48 A T 5: 3,641,853 (GRCm39) probably benign Het
Rft1 C T 14: 30,399,761 (GRCm39) S315L probably benign Het
Rgs13 C T 1: 144,047,217 (GRCm39) M1I probably null Het
Rhbg A C 3: 88,154,760 (GRCm39) S215A probably benign Het
Rufy2 A T 10: 62,837,990 (GRCm39) N379I probably damaging Het
Slc17a1 T C 13: 24,064,637 (GRCm39) L367P probably damaging Het
Slc25a39 G A 11: 102,294,501 (GRCm39) R308C probably benign Het
Sqle A G 15: 59,187,934 (GRCm39) K81E probably benign Het
Tfpi A G 2: 84,282,899 (GRCm39) probably null Het
Tnk2 A G 16: 32,498,448 (GRCm39) D572G probably damaging Het
Ubr5 A T 15: 38,006,808 (GRCm39) M1149K probably benign Het
Utrn T A 10: 12,603,502 (GRCm39) Q626L probably damaging Het
Virma T A 4: 11,544,971 (GRCm39) H1643Q probably damaging Het
Wnt3 G T 11: 103,699,031 (GRCm39) G46C possibly damaging Het
Zkscan7 G T 9: 122,719,865 (GRCm39) G184* probably null Het
Other mutations in Smo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Smo APN 6 29,758,893 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GGGGTTACAACTGTATCAGTGG -3'
(R):5'- GATGCATGCTTTGTTGGCCC -3'

Sequencing Primer
(F):5'- TACAACTGTATCAGTGGGTAAGTG -3'
(R):5'- TTGGCCCTGTGTCTGCAGAC -3'
Posted On 2016-03-17