Incidental Mutation 'R5966:Or1q1'
ID 472075
Institutional Source Beutler Lab
Gene Symbol Or1q1
Ensembl Gene ENSMUSG00000055838
Gene Name olfactory receptor family 1 subfamily Q member 1
Synonyms GA_x6K02T2NLDC-33688556-33689482, MOR138-3, Olfr357
MMRRC Submission 044151-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R5966 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 36886824-36887750 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36886957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 45 (I45T)
Ref Sequence ENSEMBL: ENSMUSP00000149727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069578] [ENSMUST00000213218]
AlphaFold Q8VFP4
Predicted Effect possibly damaging
Transcript: ENSMUST00000069578
AA Change: I45T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066272
Gene: ENSMUSG00000055838
AA Change: I45T

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3.6e-53 PFAM
Pfam:7tm_1 41 290 1.2e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213218
AA Change: I45T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.1597 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 94% (79/84)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A T 10: 115,415,717 (GRCm39) probably benign Het
Acaa2 T C 18: 74,937,223 (GRCm39) L369S probably damaging Het
Akna A G 4: 63,313,140 (GRCm39) S328P probably damaging Het
Albfm1 A G 5: 90,719,546 (GRCm39) Y214C probably damaging Het
Apc A G 18: 34,354,140 (GRCm39) probably benign Het
Brca2 C T 5: 150,466,716 (GRCm39) T2160I probably damaging Het
Camsap2 A G 1: 136,204,330 (GRCm39) S1251P probably damaging Het
Ccdc110 A G 8: 46,395,573 (GRCm39) E488G probably damaging Het
Ccdc158 T A 5: 92,797,908 (GRCm39) I411F probably damaging Het
Cd163 C T 6: 124,297,595 (GRCm39) Q914* probably null Het
Cd22 T C 7: 30,566,083 (GRCm39) D827G probably damaging Het
Ces1e A G 8: 93,946,001 (GRCm39) probably null Het
Col14a1 T C 15: 55,315,779 (GRCm39) probably null Het
Csmd3 T A 15: 47,713,135 (GRCm39) D1509V probably damaging Het
Ddx51 A G 5: 110,804,717 (GRCm39) D543G probably damaging Het
Diaph3 T A 14: 87,222,261 (GRCm39) I408F probably damaging Het
Dld G A 12: 31,390,325 (GRCm39) P213L probably damaging Het
Dnah6 T C 6: 73,037,262 (GRCm39) T3327A probably benign Het
Dnttip2 T A 3: 122,078,817 (GRCm39) probably benign Het
Dock10 T C 1: 80,546,225 (GRCm39) E791G possibly damaging Het
Ehd3 G T 17: 74,134,356 (GRCm39) W238C probably damaging Het
Ehd3 T G 17: 74,134,361 (GRCm39) L240R probably damaging Het
Ep400 A G 5: 110,824,766 (GRCm39) V2357A unknown Het
Fam20c T C 5: 138,741,932 (GRCm39) V181A probably damaging Het
Gm4781 T C 10: 100,232,814 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,371,058 (GRCm39) S827T unknown Het
Grm3 A T 5: 9,561,930 (GRCm39) I640N probably damaging Het
Gstm7 A G 3: 107,838,747 (GRCm39) probably benign Het
Hdac7 G T 15: 97,700,372 (GRCm39) H572Q probably damaging Het
Ift140 C T 17: 25,313,735 (GRCm39) Q1389* probably null Het
Igfn1 A G 1: 135,893,152 (GRCm39) V2099A probably damaging Het
Ik A G 18: 36,888,531 (GRCm39) N443S possibly damaging Het
Impact A G 18: 13,123,601 (GRCm39) K315E probably benign Het
Insr C A 8: 3,308,697 (GRCm39) R113L probably benign Het
Jak2 T A 19: 29,260,954 (GRCm39) Y317N possibly damaging Het
Kif18a T A 2: 109,122,411 (GRCm39) V162E probably damaging Het
L3mbtl3 A G 10: 26,207,762 (GRCm39) V319A unknown Het
Lepr T C 4: 101,649,324 (GRCm39) probably benign Het
Lmo7 C T 14: 102,137,938 (GRCm39) T647I possibly damaging Het
Mindy3 C T 2: 12,405,854 (GRCm39) R147Q probably benign Het
Mtr T C 13: 12,230,453 (GRCm39) probably null Het
Muc4 A T 16: 32,576,652 (GRCm39) probably benign Het
Nrip1 G A 16: 76,090,471 (GRCm39) T362M possibly damaging Het
Or1j17 G T 2: 36,578,074 (GRCm39) R20L probably null Het
Or5d45 A G 2: 88,153,222 (GRCm39) S276P probably benign Het
Ovol1 G A 19: 5,601,630 (GRCm39) R131C probably damaging Het
Pcca T C 14: 122,905,998 (GRCm39) V323A probably damaging Het
Pcdhb14 A T 18: 37,581,295 (GRCm39) M134L probably benign Het
Pecam1 G A 11: 106,581,887 (GRCm39) T252M probably benign Het
Rnd3 T A 2: 51,022,536 (GRCm39) I169F probably damaging Het
Rnmt T A 18: 68,444,689 (GRCm39) D219E probably benign Het
Rufy1 A T 11: 50,292,315 (GRCm39) F491L probably benign Het
Ryr2 G T 13: 11,677,124 (GRCm39) C3242* probably null Het
Smurf2 G T 11: 106,766,727 (GRCm39) R31S possibly damaging Het
Sptbn1 A G 11: 30,074,873 (GRCm39) I1333T probably damaging Het
Stard9 G A 2: 120,527,580 (GRCm39) C1279Y probably damaging Het
Sugp2 T C 8: 70,704,753 (GRCm39) probably null Het
Sulf1 A T 1: 12,929,636 (GRCm39) D301V probably benign Het
Tbcd G T 11: 121,492,737 (GRCm39) probably benign Het
Tlr11 T C 14: 50,599,712 (GRCm39) I566T probably benign Het
Tm9sf2 T A 14: 122,374,921 (GRCm39) probably benign Het
Tnfaip8l1 T C 17: 56,478,799 (GRCm39) F30L probably benign Het
Trav15-2-dv6-2 T A 14: 53,887,433 (GRCm39) C118S probably damaging Het
Ttc13 A G 8: 125,408,959 (GRCm39) probably benign Het
Ubqln3 A T 7: 103,790,906 (GRCm39) S395T probably benign Het
Urb2 A G 8: 124,754,827 (GRCm39) D178G probably benign Het
Usf3 A G 16: 44,041,222 (GRCm39) I1901V probably benign Het
Vmn1r173 A T 7: 23,402,112 (GRCm39) I116F probably benign Het
Vmn1r69 T A 7: 10,314,717 (GRCm39) T5S probably benign Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Wfikkn2 C T 11: 94,129,688 (GRCm39) R151H probably damaging Het
Other mutations in Or1q1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Or1q1 APN 2 36,886,955 (GRCm39) missense probably benign
IGL02043:Or1q1 APN 2 36,887,477 (GRCm39) nonsense probably null
IGL02277:Or1q1 APN 2 36,887,196 (GRCm39) splice site probably null
IGL03037:Or1q1 APN 2 36,887,560 (GRCm39) missense probably benign 0.00
IGL03378:Or1q1 APN 2 36,886,915 (GRCm39) missense probably damaging 1.00
R0212:Or1q1 UTSW 2 36,887,644 (GRCm39) missense possibly damaging 0.92
R0212:Or1q1 UTSW 2 36,887,335 (GRCm39) missense probably damaging 0.98
R1334:Or1q1 UTSW 2 36,886,872 (GRCm39) missense probably benign 0.27
R1704:Or1q1 UTSW 2 36,886,896 (GRCm39) missense probably benign 0.34
R2020:Or1q1 UTSW 2 36,887,664 (GRCm39) missense possibly damaging 0.85
R2364:Or1q1 UTSW 2 36,887,577 (GRCm39) missense probably damaging 1.00
R4700:Or1q1 UTSW 2 36,887,515 (GRCm39) missense probably benign 0.01
R5105:Or1q1 UTSW 2 36,887,469 (GRCm39) splice site probably null
R5234:Or1q1 UTSW 2 36,887,107 (GRCm39) missense probably benign
R5557:Or1q1 UTSW 2 36,887,358 (GRCm39) missense probably damaging 1.00
R6480:Or1q1 UTSW 2 36,887,007 (GRCm39) missense probably benign 0.00
R7046:Or1q1 UTSW 2 36,887,173 (GRCm39) missense probably benign 0.39
R7350:Or1q1 UTSW 2 36,886,873 (GRCm39) missense possibly damaging 0.84
R7583:Or1q1 UTSW 2 36,887,092 (GRCm39) missense probably damaging 1.00
R8128:Or1q1 UTSW 2 36,887,673 (GRCm39) missense probably benign 0.13
R8196:Or1q1 UTSW 2 36,886,873 (GRCm39) missense possibly damaging 0.84
R8475:Or1q1 UTSW 2 36,887,066 (GRCm39) missense probably damaging 0.99
R8867:Or1q1 UTSW 2 36,887,691 (GRCm39) missense probably damaging 1.00
R9550:Or1q1 UTSW 2 36,887,137 (GRCm39) missense probably damaging 1.00
R9627:Or1q1 UTSW 2 36,887,665 (GRCm39) missense
R9716:Or1q1 UTSW 2 36,887,290 (GRCm39) missense probably damaging 0.98
Z1088:Or1q1 UTSW 2 36,887,717 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- CAGTGAGCATTACTAAGTAGTCTGC -3'
(R):5'- TCCATGGCTGCAAAGCAAATG -3'

Sequencing Primer
(F):5'- GTCTGCTCATATTTTCAAGGACTG -3'
(R):5'- TGAAGAAATATGTTTGGGCTAAGC -3'
Posted On 2017-03-31