Incidental Mutation 'R2022:Smo'
ID 224121
Institutional Source Beutler Lab
Gene Symbol Smo
Ensembl Gene ENSMUSG00000001761
Gene Name smoothened, frizzled class receptor
Synonyms E130215L21Rik
MMRRC Submission 040031-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2022 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 29735502-29761364 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29754715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 262 (N262D)
Ref Sequence ENSEMBL: ENSMUSP00000001812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001812]
AlphaFold P56726
Predicted Effect possibly damaging
Transcript: ENSMUST00000001812
AA Change: N262D

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001812
Gene: ENSMUSG00000001761
AA Change: N262D

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 0.3737 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,954 (GRCm39) C423* probably null Het
Akr1cl T A 1: 65,053,857 (GRCm39) Y271F probably benign Het
Asnsd1 A G 1: 53,386,386 (GRCm39) S414P possibly damaging Het
Atp12a T A 14: 56,602,739 (GRCm39) M1K probably null Het
Atp4b A C 8: 13,437,477 (GRCm39) N225K possibly damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cactin C T 10: 81,158,727 (GRCm39) T231I possibly damaging Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc180 C A 4: 45,944,418 (GRCm39) H1423N probably benign Het
Cfap251 G A 5: 123,411,853 (GRCm39) G495D probably benign Het
Chd9 T C 8: 91,761,682 (GRCm39) Y2256H probably benign Het
Chst8 A G 7: 34,374,589 (GRCm39) Y417H possibly damaging Het
Clcn6 A G 4: 148,095,109 (GRCm39) probably null Het
Clec5a A T 6: 40,562,128 (GRCm39) V12E probably damaging Het
Crebbp C T 16: 3,903,683 (GRCm39) R1852H probably damaging Het
Cyp2c40 T A 19: 39,801,224 (GRCm39) probably benign Het
Dip2c T C 13: 9,601,836 (GRCm39) L265P probably damaging Het
Dnah3 A G 7: 119,550,465 (GRCm39) Y3274H probably damaging Het
Dnah6 T A 6: 73,004,405 (GRCm39) T3853S probably benign Het
Dnttip2 T C 3: 122,069,870 (GRCm39) S362P probably damaging Het
Dst G A 1: 34,205,372 (GRCm39) V1025I possibly damaging Het
Dym T C 18: 75,213,321 (GRCm39) V181A probably benign Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Elk3 T A 10: 93,101,539 (GRCm39) I71F probably damaging Het
Epb41l4a C T 18: 34,054,893 (GRCm39) S65N probably benign Het
Erap1 T A 13: 74,814,627 (GRCm39) V451E probably benign Het
F830045P16Rik T A 2: 129,314,585 (GRCm39) I231F probably damaging Het
Fahd1 T C 17: 25,068,814 (GRCm39) I88V probably benign Het
Fam120b C T 17: 15,644,638 (GRCm39) T744I possibly damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Gdap1l1 A T 2: 163,289,517 (GRCm39) T161S probably benign Het
Gm6309 C T 5: 146,105,121 (GRCm39) G264D probably benign Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Ino80b A G 6: 83,101,353 (GRCm39) M119T probably damaging Het
Kif3a G A 11: 53,461,408 (GRCm39) V17M probably damaging Het
Krt40 T A 11: 99,430,818 (GRCm39) E285D probably damaging Het
Lair1 C G 7: 4,066,063 (GRCm39) probably null Het
Lvrn A G 18: 46,999,503 (GRCm39) T290A possibly damaging Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Matn4 A G 2: 164,242,573 (GRCm39) V175A probably damaging Het
Mok A T 12: 110,778,257 (GRCm39) D216E probably benign Het
Muc15 A T 2: 110,561,821 (GRCm39) T86S probably benign Het
Myo16 A G 8: 10,322,633 (GRCm39) K21R probably benign Het
Ncl A G 1: 86,284,677 (GRCm39) probably null Het
Nfrkb C T 9: 31,322,546 (GRCm39) T872I probably benign Het
Nhlrc2 A T 19: 56,585,710 (GRCm39) E648D probably benign Het
Nlrp9c A T 7: 26,084,221 (GRCm39) Y453N probably damaging Het
Notch4 T C 17: 34,806,502 (GRCm39) L1813P probably damaging Het
Nrg3 T A 14: 38,098,309 (GRCm39) D515V probably damaging Het
Nsd1 T C 13: 55,361,092 (GRCm39) V20A probably damaging Het
Opn4 T A 14: 34,319,028 (GRCm39) T186S probably benign Het
Or9k2 T C 10: 129,999,049 (GRCm39) M49V probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Phf11a T A 14: 59,532,363 (GRCm39) E24V possibly damaging Het
Pigg A T 5: 108,460,788 (GRCm39) probably benign Het
Plscr2 A G 9: 92,177,647 (GRCm39) D136G probably damaging Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Prdm6 A G 18: 53,598,031 (GRCm39) probably benign Het
Prex1 A G 2: 166,417,534 (GRCm39) W1188R possibly damaging Het
Prmt2 T A 10: 76,061,292 (GRCm39) R65* probably null Het
Prom1 G T 5: 44,187,068 (GRCm39) D396E probably benign Het
Ptcd3 C T 6: 71,862,537 (GRCm39) C466Y probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Rab36 T C 10: 74,888,306 (GRCm39) I250T probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scn11a G T 9: 119,640,274 (GRCm39) A207E possibly damaging Het
Serpinb3d A G 1: 107,006,182 (GRCm39) V302A probably benign Het
Slc22a16 T C 10: 40,467,873 (GRCm39) Y469H probably damaging Het
Spata31e5 A T 1: 28,817,234 (GRCm39) V266D probably damaging Het
Sptan1 C T 2: 29,897,573 (GRCm39) A1212V probably damaging Het
Ssr1 C T 13: 38,173,525 (GRCm39) A79T probably damaging Het
Tiam1 T A 16: 89,674,075 (GRCm39) T479S probably benign Het
Tm9sf3 A G 19: 41,227,231 (GRCm39) F280S probably damaging Het
Tmem72 T C 6: 116,673,800 (GRCm39) H106R probably damaging Het
Tnr A G 1: 159,679,592 (GRCm39) I189V probably benign Het
Tpbpa T A 13: 61,088,036 (GRCm39) N50I probably benign Het
Tshz1 T A 18: 84,031,987 (GRCm39) Y807F probably damaging Het
Tspo2 C T 17: 48,755,750 (GRCm39) A131T possibly damaging Het
Usp16 T C 16: 87,270,014 (GRCm39) L322P probably damaging Het
Vmn1r185 A G 7: 26,310,935 (GRCm39) V190A possibly damaging Het
Vmn1r34 T C 6: 66,614,385 (GRCm39) K118E possibly damaging Het
Vmn1r68 A G 7: 10,261,918 (GRCm39) L60P probably damaging Het
Vmn2r-ps158 A G 7: 42,673,454 (GRCm39) N171D probably benign Het
Vps51 T C 19: 6,121,612 (GRCm39) E162G probably benign Het
Yy1 CGGG CGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zdhhc4 C T 5: 143,307,538 (GRCm39) R161H probably damaging Het
Zfp456 A T 13: 67,514,616 (GRCm39) C363* probably null Het
Zfp541 T A 7: 15,816,110 (GRCm39) S866T 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
R1438:Smo UTSW 6 29,755,482 (GRCm39) missense possibly damaging 0.89
R1900:Smo UTSW 6 29,736,055 (GRCm39) missense unknown
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'- CATGCACAGCTACATCGCAG -3'
(R):5'- CTCTGGGTCCCCAAGATACTTAC -3'

Sequencing Primer
(F):5'- AGCTACATCGCAGCCTTCG -3'
(R):5'- AAGATACTTACGTGGGCTCCC -3'
Posted On 2014-08-25