Incidental Mutation 'R7050:Or2q1'
ID 547526
Institutional Source Beutler Lab
Gene Symbol Or2q1
Ensembl Gene ENSMUSG00000054431
Gene Name olfactory receptor family 2 subfamily Q member 1
Synonyms Olfr450, GA_x6K02T2P3E9-4742413-4741481, MOR257-3
MMRRC Submission 045241-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R7050 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 42794407-42795339 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42794504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 33 (V33D)
Ref Sequence ENSEMBL: ENSMUSP00000151908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067503] [ENSMUST00000218832]
AlphaFold Q8VF81
Predicted Effect possibly damaging
Transcript: ENSMUST00000067503
AA Change: V33D

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000068823
Gene: ENSMUSG00000054431
AA Change: V33D

DomainStartEndE-ValueType
Pfam:7tm_4 33 308 8.2e-49 PFAM
Pfam:7tm_1 43 291 1.2e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000218832
AA Change: V33D

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,864,544 (GRCm39) A346V possibly damaging Het
Adcy5 A T 16: 35,124,070 (GRCm39) M1250L possibly damaging Het
Arhgef38 T C 3: 132,839,388 (GRCm39) probably benign Het
Ascc3 T A 10: 50,716,446 (GRCm39) I1944N probably benign Het
Cabin1 G T 10: 75,549,376 (GRCm39) P1343Q probably damaging Het
Cbr3 A T 16: 93,487,282 (GRCm39) Q155L possibly damaging Het
Cd44 A G 2: 102,644,482 (GRCm39) V577A probably damaging Het
Coil C T 11: 88,872,014 (GRCm39) T125I possibly damaging Het
Fmo3 T C 1: 162,791,473 (GRCm39) N268S probably damaging Het
Fnip2 T C 3: 79,413,577 (GRCm39) T248A probably damaging Het
Ggt7 G A 2: 155,348,295 (GRCm39) T43I probably benign Het
Gm3250 C A 10: 77,617,814 (GRCm39) C188F possibly damaging Het
Iqce G A 5: 140,651,846 (GRCm39) S375F possibly damaging Het
Iqgap3 A G 3: 88,006,220 (GRCm39) T544A probably damaging Het
Islr A G 9: 58,065,000 (GRCm39) L169P probably damaging Het
Kdr G T 5: 76,110,780 (GRCm39) T904N probably damaging Het
Mink1 A G 11: 70,503,158 (GRCm39) T974A possibly damaging Het
Mms19 A G 19: 41,939,185 (GRCm39) probably null Het
Mycl T C 4: 122,890,813 (GRCm39) probably null Het
Nab1 A T 1: 52,529,894 (GRCm39) M1K probably null Het
Naip6 C T 13: 100,452,007 (GRCm39) G202R probably damaging Het
Nbeal2 G A 9: 110,457,788 (GRCm39) S2159L probably damaging Het
Neb A T 2: 52,112,888 (GRCm39) M4302K possibly damaging Het
Npy1r A G 8: 67,157,192 (GRCm39) D204G probably benign Het
Pkdcc T A 17: 83,523,073 (GRCm39) I60N possibly damaging Het
Plcxd3 T C 15: 4,546,200 (GRCm39) V68A probably damaging Het
Prss36 G T 7: 127,543,937 (GRCm39) R145S possibly damaging Het
Pygl C A 12: 70,266,396 (GRCm39) G40C probably damaging Het
Rev1 A G 1: 38,093,352 (GRCm39) L1064P probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serpina3k T C 12: 104,307,403 (GRCm39) F212L possibly damaging Het
Slc16a4 A T 3: 107,208,148 (GRCm39) E219D probably benign Het
Slc6a20b A T 9: 123,427,608 (GRCm39) W434R probably damaging Het
Slco1c1 T A 6: 141,493,652 (GRCm39) F278Y probably damaging Het
Tbx21 T G 11: 97,005,596 (GRCm39) D123A probably benign Het
Trp73 A G 4: 154,165,899 (GRCm39) F35L probably damaging Het
Tspan17 T C 13: 54,943,876 (GRCm39) V135A probably benign Het
Uba2 G A 7: 33,845,687 (GRCm39) Q479* probably null Het
Ubr2 A G 17: 47,272,528 (GRCm39) V889A probably benign Het
Unc80 A G 1: 66,590,067 (GRCm39) probably null Het
Vinac1 T C 2: 128,869,891 (GRCm39) probably null Het
Vmn1r45 A T 6: 89,910,703 (GRCm39) I89N probably damaging Het
Vmn2r11 A G 5: 109,202,657 (GRCm39) I140T probably benign Het
Yipf2 A T 9: 21,503,474 (GRCm39) D24E probably benign Het
Zfp251 T G 15: 76,738,496 (GRCm39) Q199P possibly damaging Het
Zfp37 A T 4: 62,109,908 (GRCm39) N385K possibly damaging Het
Zfp655 G A 5: 145,181,545 (GRCm39) E468K probably benign Het
Other mutations in Or2q1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Or2q1 APN 6 42,795,208 (GRCm39) missense probably damaging 0.99
IGL01720:Or2q1 APN 6 42,794,527 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CTGTGATCATCTTCAATGTGGATG -3'
(R):5'- CCACCCAAGGCTAAGGAGATATAG -3'

Sequencing Primer
(F):5'- GATCTTGAAATTCAGAAGTGTCAGC -3'
(R):5'- ATGAGCTTTTGGGCTGAAACC -3'
Posted On 2019-05-13