Incidental Mutation 'IGL01720:Or2q1'
ID 105055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2q1
Ensembl Gene ENSMUSG00000054431
Gene Name olfactory receptor family 2 subfamily Q member 1
Synonyms Olfr450, GA_x6K02T2P3E9-4742413-4741481, MOR257-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL01720
Quality Score
Status
Chromosome 6
Chromosomal Location 42794407-42795339 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 42794527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 41 (V41I)
Ref Sequence ENSEMBL: ENSMUSP00000151908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067503] [ENSMUST00000218832]
AlphaFold Q8VF81
Predicted Effect probably benign
Transcript: ENSMUST00000067503
AA Change: V41I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000068823
Gene: ENSMUSG00000054431
AA Change: V41I

DomainStartEndE-ValueType
Pfam:7tm_4 33 308 8.2e-49 PFAM
Pfam:7tm_1 43 291 1.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218832
AA Change: V41I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,605,076 (GRCm39) R1773Q probably benign Het
Apc2 T C 10: 80,150,333 (GRCm39) S1796P probably benign Het
Asxl3 A T 18: 22,658,382 (GRCm39) I2131F probably damaging Het
Cdc42bpa T A 1: 179,938,847 (GRCm39) D833E probably damaging Het
Cenpc1 A G 5: 86,193,284 (GRCm39) S202P possibly damaging Het
Cenpf T C 1: 189,414,583 (GRCm39) E178G probably benign Het
Cenpf T C 1: 189,383,412 (GRCm39) Y2636C probably damaging Het
Cfap251 A G 5: 123,460,557 (GRCm39) D1173G probably benign Het
Chkb C T 15: 89,312,155 (GRCm39) probably null Het
Cldn20 A G 17: 3,583,375 (GRCm39) T183A probably benign Het
Cpne8 C T 15: 90,385,703 (GRCm39) V442I probably benign Het
Cx3cl1 T A 8: 95,504,701 (GRCm39) M39K probably damaging Het
Dgkd T A 1: 87,864,487 (GRCm39) L124Q probably damaging Het
Duxf4 A C 10: 58,072,211 (GRCm39) M1R probably null Het
Fam180a T C 6: 35,290,500 (GRCm39) H161R probably benign Het
Galt C A 4: 41,757,463 (GRCm39) R212S probably damaging Het
Gja10 T C 4: 32,601,007 (GRCm39) D459G probably benign Het
Glb1 T C 9: 114,249,573 (GRCm39) probably null Het
Gm5709 A T 3: 59,513,975 (GRCm39) noncoding transcript Het
Igf2r A G 17: 12,920,200 (GRCm39) Y1380H probably damaging Het
Jag1 C T 2: 136,929,023 (GRCm39) G811D probably damaging Het
Lrguk T C 6: 34,020,412 (GRCm39) F52S probably damaging Het
Lrrc15 A T 16: 30,092,138 (GRCm39) N400K probably benign Het
Map3k12 A G 15: 102,410,621 (GRCm39) probably benign Het
Mbnl2 C T 14: 120,562,682 (GRCm39) T11I probably damaging Het
Mettl22 T C 16: 8,302,117 (GRCm39) probably benign Het
Mgat4a G A 1: 37,483,979 (GRCm39) A497V probably damaging Het
Mrpl49 C A 19: 6,105,187 (GRCm39) M91I possibly damaging Het
Or2ag18 A T 7: 106,405,416 (GRCm39) D84E probably damaging Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Ppp1r13b T C 12: 111,824,694 (GRCm39) T102A probably benign Het
Pramel23 T A 4: 143,423,410 (GRCm39) probably benign Het
Prodh2 A G 7: 30,210,628 (GRCm39) D393G probably damaging Het
Pyroxd1 A G 6: 142,296,784 (GRCm39) probably benign Het
Rad17 A T 13: 100,759,366 (GRCm39) C554S possibly damaging Het
Rapgef5 T C 12: 117,577,055 (GRCm39) probably benign Het
Setdb2 A G 14: 59,660,885 (GRCm39) V86A possibly damaging Het
Slc38a2 A T 15: 96,589,092 (GRCm39) probably benign Het
Slc9c1 A G 16: 45,376,132 (GRCm39) Y406C probably damaging Het
Slit1 T C 19: 41,622,653 (GRCm39) D702G probably benign Het
Stat3 T C 11: 100,794,484 (GRCm39) H275R possibly damaging Het
Susd5 T A 9: 113,893,052 (GRCm39) N43K possibly damaging Het
Ttc3 A T 16: 94,186,228 (GRCm39) K124N probably damaging Het
Usp36 C A 11: 118,165,828 (GRCm39) R165L probably damaging Het
Vwf G A 6: 125,619,798 (GRCm39) R1492Q possibly damaging Het
Zbed6 A G 1: 133,585,264 (GRCm39) V691A possibly damaging Het
Other mutations in Or2q1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Or2q1 APN 6 42,795,208 (GRCm39) missense probably damaging 0.99
IGL02457:Or2q1 APN 6 42,795,176 (GRCm39) missense probably damaging 0.97
R0376:Or2q1 UTSW 6 42,795,226 (GRCm39) missense probably benign 0.00
R1804:Or2q1 UTSW 6 42,795,155 (GRCm39) missense possibly damaging 0.66
R1823:Or2q1 UTSW 6 42,795,202 (GRCm39) missense possibly damaging 0.49
R2115:Or2q1 UTSW 6 42,794,431 (GRCm39) missense possibly damaging 0.65
R4817:Or2q1 UTSW 6 42,794,896 (GRCm39) missense possibly damaging 0.78
R5730:Or2q1 UTSW 6 42,795,094 (GRCm39) nonsense probably null
R5938:Or2q1 UTSW 6 42,794,701 (GRCm39) missense probably damaging 1.00
R6514:Or2q1 UTSW 6 42,794,930 (GRCm39) missense probably damaging 0.97
R7050:Or2q1 UTSW 6 42,794,504 (GRCm39) missense possibly damaging 0.61
R7211:Or2q1 UTSW 6 42,794,950 (GRCm39) missense probably benign 0.41
R8279:Or2q1 UTSW 6 42,794,557 (GRCm39) missense probably damaging 1.00
R8863:Or2q1 UTSW 6 42,794,780 (GRCm39) missense probably damaging 1.00
R8933:Or2q1 UTSW 6 42,794,950 (GRCm39) missense probably benign 0.36
R9039:Or2q1 UTSW 6 42,794,545 (GRCm39) missense probably damaging 0.99
R9416:Or2q1 UTSW 6 42,795,197 (GRCm39) missense probably benign 0.01
Z1177:Or2q1 UTSW 6 42,795,133 (GRCm39) missense possibly damaging 0.93
Z1189:Or2q1 UTSW 6 42,794,447 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21