Incidental Mutation 'R1438:Smo'
ID 160762
Institutional Source Beutler Lab
Gene Symbol Smo
Ensembl Gene ENSMUSG00000001761
Gene Name smoothened, frizzled class receptor
Synonyms E130215L21Rik
MMRRC Submission 039493-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1438 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 29735502-29761364 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29755482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 385 (V385I)
Ref Sequence ENSEMBL: ENSMUSP00000001812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001812]
AlphaFold P56726
Predicted Effect possibly damaging
Transcript: ENSMUST00000001812
AA Change: V385I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001812
Gene: ENSMUSG00000001761
AA Change: V385I

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 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency 99% (80/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A T 5: 137,552,871 (GRCm39) I67F probably damaging Het
Adam24 A T 8: 41,134,431 (GRCm39) N633I probably benign Het
Adgrg6 T C 10: 14,344,585 (GRCm39) S123G possibly damaging Het
Afdn T A 17: 14,075,652 (GRCm39) F940L probably damaging Het
Ahrr A T 13: 74,372,987 (GRCm39) Y26* probably null Het
Akap1 C A 11: 88,735,577 (GRCm39) G362* probably null Het
Aox3 A T 1: 58,192,337 (GRCm39) T536S probably benign Het
Boc A T 16: 44,309,109 (GRCm39) probably null Het
Cchcr1 T C 17: 35,841,457 (GRCm39) probably null Het
Cct2 A T 10: 116,890,897 (GRCm39) probably benign Het
Cd84 A T 1: 171,679,685 (GRCm39) Y121F probably damaging Het
Cecr2 T A 6: 120,738,433 (GRCm39) C275* probably null Het
Chchd3 C A 6: 32,985,503 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,007,971 (GRCm39) probably benign Het
Col5a3 T C 9: 20,691,253 (GRCm39) K1131E probably damaging Het
Dek A T 13: 47,241,647 (GRCm39) S306T probably benign Het
Dhx32 T C 7: 133,339,069 (GRCm39) E322G possibly damaging Het
Dlg5 T A 14: 24,204,673 (GRCm39) D941V possibly damaging Het
Dnah10 A G 5: 124,876,009 (GRCm39) N2559S probably benign Het
Dnajc3 A G 14: 119,205,518 (GRCm39) T171A probably benign Het
Eftud2 G T 11: 102,750,868 (GRCm39) F308L probably damaging Het
Elp6 T C 9: 110,143,123 (GRCm39) F95S probably damaging Het
Emsy C T 7: 98,270,613 (GRCm39) V450I possibly damaging Het
Exoc3 A T 13: 74,338,298 (GRCm39) M362K probably damaging Het
Fat2 A T 11: 55,178,637 (GRCm39) D1474E probably damaging Het
Fcgbp T A 7: 27,803,158 (GRCm39) C1587* probably null Het
Fosl2 T A 5: 32,304,329 (GRCm39) L88Q probably damaging Het
Fsd2 T C 7: 81,198,621 (GRCm39) D381G probably benign Het
Golim4 A C 3: 75,863,440 (GRCm39) S56A probably damaging Het
Gpr39 T C 1: 125,800,093 (GRCm39) probably benign Het
Gucy1b2 T C 14: 62,651,770 (GRCm39) I409V probably damaging Het
Hivep1 A G 13: 42,311,596 (GRCm39) T1279A probably benign Het
Ifit1bl2 T A 19: 34,596,569 (GRCm39) Q349L possibly damaging Het
Kcnc1 A T 7: 46,077,691 (GRCm39) I498F possibly damaging Het
Kctd21 T A 7: 96,996,704 (GRCm39) I59N probably damaging Het
Lama5 T A 2: 179,824,593 (GRCm39) T2577S probably benign Het
Mief2 G T 11: 60,621,140 (GRCm39) R9M possibly damaging Het
Mmp3 T C 9: 7,453,705 (GRCm39) V442A probably benign Het
Nkapd1 C A 9: 50,518,972 (GRCm39) K213N possibly damaging Het
Nrxn3 C T 12: 90,298,909 (GRCm39) R477W probably damaging Het
Or12e7 A G 2: 87,288,336 (GRCm39) T276A probably benign Het
Or7a41 T A 10: 78,871,122 (GRCm39) V164E possibly damaging Het
Parp1 A G 1: 180,418,807 (GRCm39) T656A probably benign Het
Pcdhb19 A G 18: 37,631,015 (GRCm39) D270G probably damaging Het
Phlpp1 A G 1: 106,101,142 (GRCm39) D470G possibly damaging Het
Prdm1 T C 10: 44,318,124 (GRCm39) E248G probably benign Het
Prtg C T 9: 72,818,032 (GRCm39) probably benign Het
Ptpn1 T C 2: 167,818,529 (GRCm39) Y424H probably damaging Het
Ptprr T C 10: 116,092,109 (GRCm39) V369A probably damaging Het
Rai1 T G 11: 60,076,221 (GRCm39) V95G probably benign Het
Rasal3 T A 17: 32,612,509 (GRCm39) probably null Het
Rbm19 A G 5: 120,260,961 (GRCm39) E195G probably benign Het
Rhbdd3 T A 11: 5,053,332 (GRCm39) L44Q probably damaging Het
Ripply2 T C 9: 86,901,713 (GRCm39) W80R probably damaging Het
Rnf183 A G 4: 62,346,760 (GRCm39) C13R probably damaging Het
Rorb A G 19: 18,932,417 (GRCm39) L367P probably damaging Het
Rpl7a-ps5 C T 17: 58,146,135 (GRCm39) probably benign Het
Rreb1 A G 13: 38,114,581 (GRCm39) N647D probably benign Het
Rtn1 A T 12: 72,351,187 (GRCm39) S341T probably damaging Het
Ryr3 T C 2: 112,588,046 (GRCm39) S2632G probably benign Het
Scube1 A G 15: 83,499,227 (GRCm39) C633R possibly damaging Het
Sdk1 A T 5: 142,024,078 (GRCm39) I723F probably damaging Het
Sec23a A T 12: 59,048,796 (GRCm39) C109S probably damaging Het
Septin11 T C 5: 93,296,287 (GRCm39) F60L probably damaging Het
Sgf29 G A 7: 126,271,063 (GRCm39) probably null Het
Skint5 A G 4: 113,413,308 (GRCm39) probably benign Het
Tada2a G A 11: 84,000,837 (GRCm39) T76I probably damaging Het
Tas2r118 T A 6: 23,969,422 (GRCm39) H213L possibly damaging Het
Thoc5 A T 11: 4,861,427 (GRCm39) probably benign Het
Tmem33 T A 5: 67,424,634 (GRCm39) probably null Het
Top1mt A G 15: 75,546,247 (GRCm39) L78P probably damaging Het
Uvssa T A 5: 33,571,228 (GRCm39) probably benign Het
Vmn2r50 A T 7: 9,784,062 (GRCm39) C137* probably null Het
Vmn2r81 A G 10: 79,129,691 (GRCm39) T861A probably benign Het
Wnt3 A T 11: 103,699,077 (GRCm39) N61I probably damaging Het
Zswim9 A G 7: 13,011,144 (GRCm39) I68T possibly damaging Het
Zzef1 T C 11: 72,803,771 (GRCm39) I2535T probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CATCTTCACAGCTCCAGTGAGACC -3'
(R):5'- GCTCAGCACACTATGTTACCTGGC -3'

Sequencing Primer
(F):5'- AGTGAGACCCTGTCCTGTG -3'
(R):5'- AGTAGCCTCCCACAATAAGC -3'
Posted On 2014-03-14