Incidental Mutation 'R1507:Olfr630'
ID 167992
Institutional Source Beutler Lab
Gene Symbol Olfr630
Ensembl Gene ENSMUSG00000050281
Gene Name olfactory receptor 630
Synonyms MOR17-1, GA_x6K02T2PBJ9-6483085-6482126
MMRRC Submission 039555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1507 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 103753480-103757333 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103755021 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 188 (R188H)
Ref Sequence ENSEMBL: ENSMUSP00000102493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106880]
AlphaFold Q9EQQ7
Predicted Effect probably benign
Transcript: ENSMUST00000052826
AA Change: R188H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: R188H

Pfam:7tm_4 33 312 3.4e-120 PFAM
Pfam:7TM_GPCR_Srsx 37 305 3.7e-8 PFAM
Pfam:7tm_1 43 294 1.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106880
AA Change: R188H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: R188H

Pfam:7TM_GPCR_Srsx 37 305 3.7e-8 PFAM
Pfam:7tm_1 43 294 8.4e-25 PFAM
Pfam:7tm_4 144 287 9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217072
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003F12Rik T G 2: 154,549,619 (GRCm38) V102G probably benign Het
4931423N10Rik A G 2: 23,208,074 (GRCm38) Y88C probably damaging Het
Adgrv1 T C 13: 81,472,580 (GRCm38) probably null Het
Ahnak T A 19: 9,010,077 (GRCm38) D2908E probably damaging Het
Aox1 A G 1: 58,104,451 (GRCm38) M1243V probably benign Het
Apobec2 T C 17: 48,422,975 (GRCm38) D221G possibly damaging Het
Bcas1 T C 2: 170,366,428 (GRCm38) D472G probably damaging Het
Btnl7-ps T A 17: 34,541,463 (GRCm38) noncoding transcript Het
Cd209d G T 8: 3,878,453 (GRCm38) Q11K possibly damaging Het
Cdc14a G A 3: 116,293,997 (GRCm38) T455I possibly damaging Het
Cep120 A G 18: 53,697,657 (GRCm38) S843P probably damaging Het
Cped1 A T 6: 22,122,261 (GRCm38) H380L probably damaging Het
D430042O09Rik T A 7: 125,866,352 (GRCm38) D1325E probably damaging Het
Derl2 A T 11: 71,007,345 (GRCm38) W233R probably benign Het
Drd5 A T 5: 38,320,722 (GRCm38) I353F probably damaging Het
E330034G19Rik A T 14: 24,306,987 (GRCm38) Q197L possibly damaging Het
Edil3 T A 13: 89,131,712 (GRCm38) S170T probably damaging Het
Gldc T A 19: 30,118,638 (GRCm38) T658S probably damaging Het
Gpr146 A G 5: 139,393,369 (GRCm38) M309V probably benign Het
Hexim2 T A 11: 103,138,321 (GRCm38) C66* probably null Het
Hist2h2bb A G 3: 96,269,873 (GRCm38) Y41C probably damaging Het
Htr2a T C 14: 74,705,979 (GRCm38) V333A probably damaging Het
Igdcc4 A G 9: 65,133,744 (GRCm38) E1065G probably damaging Het
Kcnk9 T A 15: 72,512,234 (GRCm38) E365V possibly damaging Het
Kif28 T A 1: 179,736,006 (GRCm38) N135I probably damaging Het
Kmt2a A T 9: 44,818,403 (GRCm38) probably benign Het
Lamb2 A T 9: 108,490,382 (GRCm38) I1788F probably damaging Het
Lsm6 G A 8: 78,812,979 (GRCm38) R31* probably null Het
Mical3 T A 6: 121,042,238 (GRCm38) T8S probably benign Het
Ncapg2 T C 12: 116,460,566 (GRCm38) F1123S probably benign Het
Nprl2 A G 9: 107,542,992 (GRCm38) D30G probably benign Het
Olfr206 A T 16: 59,345,493 (GRCm38) D69E probably damaging Het
Olfr916 A T 9: 38,658,014 (GRCm38) I126N probably damaging Het
Parvg T A 15: 84,330,158 (GRCm38) V181E probably damaging Het
Pfas T C 11: 68,990,034 (GRCm38) T1106A probably benign Het
Plekhh1 A T 12: 79,079,450 (GRCm38) T1310S probably damaging Het
Ptprj A G 2: 90,471,287 (GRCm38) V74A possibly damaging Het
Rapgef2 A T 3: 79,081,293 (GRCm38) probably benign Het
Rfx3 G T 19: 27,768,513 (GRCm38) T731K probably benign Het
Rnf31 A T 14: 55,598,982 (GRCm38) K634* probably null Het
Scp2 CACTTTAATAATACTTT CACTTT 4: 108,087,012 (GRCm38) probably null Het
Set A G 2: 30,069,094 (GRCm38) H101R probably damaging Het
Slc30a6 G T 17: 74,408,862 (GRCm38) V106F probably damaging Het
Slc47a1 A T 11: 61,359,518 (GRCm38) probably null Het
Spaca3 G A 11: 80,863,157 (GRCm38) R40H probably damaging Het
Srpr G A 9: 35,215,470 (GRCm38) R508H probably benign Het
Ston2 A T 12: 91,641,680 (GRCm38) I882N probably benign Het
Tenm3 A G 8: 48,287,822 (GRCm38) S1209P probably benign Het
Tmprss11g T C 5: 86,499,611 (GRCm38) T23A probably benign Het
Topors A G 4: 40,261,829 (GRCm38) V485A probably damaging Het
Tpgs1 T A 10: 79,675,786 (GRCm38) L254Q probably damaging Het
Traf3 A C 12: 111,260,760 (GRCm38) T336P probably benign Het
Ttn T A 2: 76,880,590 (GRCm38) probably benign Het
Ubr5 G A 15: 37,980,870 (GRCm38) R2388W probably damaging Het
Unc13a A G 8: 71,658,266 (GRCm38) S434P probably benign Het
Usp33 A G 3: 152,374,763 (GRCm38) I510M possibly damaging Het
Vmn1r65 C A 7: 6,009,109 (GRCm38) G42V probably benign Het
Xab2 A G 8: 3,616,031 (GRCm38) L262S possibly damaging Het
Yap1 A T 9: 7,953,140 (GRCm38) probably benign Het
Zbtb14 C G 17: 69,387,764 (GRCm38) I152M probably benign Het
Zfp609 A G 9: 65,794,777 (GRCm38) Y198H possibly damaging Het
Zfp629 T A 7: 127,611,861 (GRCm38) K259* probably null Het
Other mutations in Olfr630
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Olfr630 APN 7 103,755,006 (GRCm38) missense probably damaging 1.00
IGL01111:Olfr630 APN 7 103,755,373 (GRCm38) missense probably benign 0.07
IGL02456:Olfr630 APN 7 103,755,493 (GRCm38) missense possibly damaging 0.94
IGL03173:Olfr630 APN 7 103,754,976 (GRCm38) missense probably benign 0.00
R1104:Olfr630 UTSW 7 103,754,976 (GRCm38) missense probably benign 0.00
R1695:Olfr630 UTSW 7 103,754,924 (GRCm38) nonsense probably null
R1966:Olfr630 UTSW 7 103,755,168 (GRCm38) missense probably damaging 1.00
R1971:Olfr630 UTSW 7 103,755,320 (GRCm38) nonsense probably null
R2696:Olfr630 UTSW 7 103,755,528 (GRCm38) missense probably damaging 0.96
R4943:Olfr630 UTSW 7 103,755,296 (GRCm38) missense probably benign 0.12
R5622:Olfr630 UTSW 7 103,755,169 (GRCm38) missense probably damaging 0.99
R6365:Olfr630 UTSW 7 103,755,195 (GRCm38) missense probably benign 0.00
R7592:Olfr630 UTSW 7 103,755,072 (GRCm38) missense probably damaging 1.00
R8146:Olfr630 UTSW 7 103,755,303 (GRCm38) missense probably damaging 1.00
R8283:Olfr630 UTSW 7 103,754,812 (GRCm38) missense possibly damaging 0.51
R8867:Olfr630 UTSW 7 103,754,686 (GRCm38) nonsense probably null
R8875:Olfr630 UTSW 7 103,755,255 (GRCm38) missense probably damaging 1.00
R9658:Olfr630 UTSW 7 103,754,821 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-13