Incidental Mutation 'R1823:Or2t1'
ID 206595
Institutional Source Beutler Lab
Gene Symbol Or2t1
Ensembl Gene ENSMUSG00000072707
Gene Name olfactory receptor family 2 subfamily T member 1
Synonyms MTPCR53, GA_x6K02T2PLTE-6714644-6715597, Olfr31, MOR274-1
MMRRC Submission 039851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.238) question?
Stock # R1823 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 8140697-8141650 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14328774 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 221 (L221Q)
Ref Sequence ENSEMBL: ENSMUSP00000149019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100872] [ENSMUST00000206009] [ENSMUST00000217035]
AlphaFold E9Q3K2
Predicted Effect probably damaging
Transcript: ENSMUST00000100872
AA Change: L221Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098434
Gene: ENSMUSG00000072707
AA Change: L221Q

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 5.7e-50 PFAM
Pfam:7tm_1 40 289 3.1e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000206009
AA Change: L221Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217035
AA Change: L221Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224991
Meta Mutation Damage Score 0.7344 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 98% (87/89)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,111,312 (GRCm39) V868I probably benign Het
Ahnak G T 19: 8,982,269 (GRCm39) M1184I probably damaging Het
Akap11 T C 14: 78,748,928 (GRCm39) E1153G probably damaging Het
Amy1 T C 3: 113,356,376 (GRCm39) N260S probably null Het
Ankrd6 A G 4: 32,824,427 (GRCm39) L129P probably damaging Het
Aox1 A T 1: 58,351,518 (GRCm39) T702S probably benign Het
Apobec1 G T 6: 122,555,845 (GRCm39) T204K possibly damaging Het
Arhgef19 A G 4: 140,976,457 (GRCm39) R433G probably benign Het
Atf6b T A 17: 34,867,618 (GRCm39) H110Q possibly damaging Het
Btnl4 C T 17: 34,694,826 (GRCm39) probably null Het
Camsap2 T C 1: 136,201,521 (GRCm39) T662A possibly damaging Het
Cbs G A 17: 31,843,245 (GRCm39) H229Y probably damaging Het
Cct8 G A 16: 87,287,442 (GRCm39) R111* probably null Het
Cdc42bpb C T 12: 111,293,993 (GRCm39) A250T probably damaging Het
Chrd A G 16: 20,560,097 (GRCm39) probably benign Het
Ckap2l A G 2: 129,117,499 (GRCm39) F559L probably damaging Het
Cltrn A G X: 162,901,230 (GRCm39) D184G possibly damaging Het
D630003M21Rik T C 2: 158,059,477 (GRCm39) Y141C probably damaging Het
Dbf4 T C 5: 8,447,539 (GRCm39) N557S probably benign Het
Dct T G 14: 118,273,935 (GRCm39) N324T probably benign Het
Dip2a A T 10: 76,114,336 (GRCm39) L999* probably null Het
Dock10 T A 1: 80,520,814 (GRCm39) probably null Het
Dync2li1 A T 17: 84,957,225 (GRCm39) D330V probably damaging Het
Eif4g3 T A 4: 137,907,802 (GRCm39) D1267E probably benign Het
Enc1 A G 13: 97,382,486 (GRCm39) E332G possibly damaging Het
Fat2 C T 11: 55,147,606 (GRCm39) V3879I probably benign Het
Fh1 A T 1: 175,444,114 (GRCm39) I117K probably damaging Het
Fkbp15 A G 4: 62,255,328 (GRCm39) L227P probably damaging Het
Fpr1 T A 17: 18,097,315 (GRCm39) M225L probably benign Het
Fras1 A T 5: 96,918,547 (GRCm39) I3528F probably damaging Het
Grm7 A G 6: 111,184,730 (GRCm39) T354A probably benign Het
Ift27 T A 15: 78,057,978 (GRCm39) I9F possibly damaging Het
Igf1r A G 7: 67,844,729 (GRCm39) D834G possibly damaging Het
Igsf9b T A 9: 27,243,028 (GRCm39) L738Q probably damaging Het
Itgam A T 7: 127,663,904 (GRCm39) T44S probably benign Het
Ivd T A 2: 118,692,515 (GRCm39) I5N probably benign Het
Jcad T C 18: 4,675,780 (GRCm39) S1181P probably damaging Het
Kctd18 A G 1: 57,995,524 (GRCm39) V251A probably benign Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo18a T C 11: 77,715,923 (GRCm39) probably benign Het
Myo3a A T 2: 22,345,091 (GRCm39) Y509F probably damaging Het
Myocd C A 11: 65,069,496 (GRCm39) M909I probably benign Het
Ndufv3 G A 17: 31,750,219 (GRCm39) R467Q probably damaging Het
Nkpd1 G A 7: 19,257,177 (GRCm39) V319M probably damaging Het
Or13p4 T A 4: 118,547,389 (GRCm39) N87Y probably damaging Het
Or1af1 T C 2: 37,110,344 (GRCm39) V281A probably damaging Het
Or1p1c C T 11: 74,161,043 (GRCm39) A276V probably damaging Het
Or2q1 G T 6: 42,795,202 (GRCm39) A266S possibly damaging Het
Or4c111 A G 2: 88,843,722 (GRCm39) S229P probably benign Het
Or5b101 C A 19: 13,005,181 (GRCm39) V171L probably benign Het
Parp4 T C 14: 56,827,329 (GRCm39) probably benign Het
Pcdhb9 A G 18: 37,535,871 (GRCm39) T622A probably benign Het
Pdpk1 A T 17: 24,317,150 (GRCm39) probably benign Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Plekhg1 G T 10: 3,853,658 (GRCm39) probably null Het
Plekhh2 A G 17: 84,882,617 (GRCm39) Y708C probably damaging Het
Pnp T C 14: 51,187,786 (GRCm39) F107L probably damaging Het
Postn T A 3: 54,292,708 (GRCm39) probably null Het
Prcp A T 7: 92,577,883 (GRCm39) D349V probably damaging Het
Prl3a1 A T 13: 27,454,177 (GRCm39) I52F probably damaging Het
Pym1 G A 10: 128,601,913 (GRCm39) probably benign Het
Rad9a A T 19: 4,247,241 (GRCm39) I248N probably damaging Het
Ror2 T G 13: 53,264,341 (GRCm39) E917A probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sema6d A G 2: 124,501,476 (GRCm39) probably null Het
Shisal1 T C 15: 84,290,669 (GRCm39) T213A probably benign Het
Slc4a2 C T 5: 24,632,618 (GRCm39) A12V probably damaging Het
Slco6b1 T G 1: 96,888,901 (GRCm39) noncoding transcript Het
Slf2 A T 19: 44,923,687 (GRCm39) H167L possibly damaging Het
Snx9 G T 17: 5,970,946 (GRCm39) G429V probably damaging Het
Sod3 G T 5: 52,525,504 (GRCm39) V68L probably benign Het
Spta1 T A 1: 174,074,115 (GRCm39) D2351E probably benign Het
Srpk3 G A X: 72,821,561 (GRCm39) R425Q possibly damaging Het
Tatdn1 C T 15: 58,788,005 (GRCm39) G171E probably damaging Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Tnfsf9 A G 17: 57,412,738 (GRCm39) T103A probably benign Het
Tpm3-rs7 T C 14: 113,552,595 (GRCm39) L163P possibly damaging Het
Trim52 T A 14: 106,344,401 (GRCm39) C20S probably damaging Het
Ucp1 C T 8: 84,020,661 (GRCm39) T157I probably damaging Het
Uspl1 T A 5: 149,151,224 (GRCm39) L794Q probably benign Het
Vmn1r5 T A 6: 56,962,580 (GRCm39) V85E probably damaging Het
Vmn1r58 A G 7: 5,413,405 (GRCm39) I275T possibly damaging Het
Vmn2r79 A G 7: 86,687,080 (GRCm39) I820M probably damaging Het
Wscd1 C A 11: 71,651,044 (GRCm39) P124T probably benign Het
Zfp780b A T 7: 27,662,525 (GRCm39) C677S possibly damaging Het
Other mutations in Or2t1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02550:Or2t1 APN 14 14,328,423 (GRCm38) missense possibly damaging 0.91
IGL02566:Or2t1 APN 14 14,328,138 (GRCm38) missense probably benign 0.05
IGL02902:Or2t1 APN 14 14,328,789 (GRCm38) missense probably benign
IGL03106:Or2t1 APN 14 14,328,851 (GRCm38) missense probably damaging 0.97
IGL03214:Or2t1 APN 14 14,328,284 (GRCm38) missense probably damaging 0.98
R0333:Or2t1 UTSW 14 14,328,498 (GRCm38) missense probably damaging 1.00
R0828:Or2t1 UTSW 14 14,328,800 (GRCm38) missense probably benign 0.00
R1231:Or2t1 UTSW 14 14,328,515 (GRCm38) missense probably benign 0.00
R1725:Or2t1 UTSW 14 14,328,977 (GRCm38) missense probably damaging 1.00
R1824:Or2t1 UTSW 14 14,328,774 (GRCm38) missense probably damaging 1.00
R2026:Or2t1 UTSW 14 14,328,891 (GRCm38) missense probably benign 0.10
R3891:Or2t1 UTSW 14 14,328,114 (GRCm38) start codon destroyed probably null 0.99
R4327:Or2t1 UTSW 14 14,328,193 (GRCm38) missense probably damaging 1.00
R4328:Or2t1 UTSW 14 14,328,193 (GRCm38) missense probably damaging 1.00
R4608:Or2t1 UTSW 14 14,328,887 (GRCm38) missense probably benign 0.06
R4893:Or2t1 UTSW 14 14,328,852 (GRCm38) missense probably damaging 1.00
R5197:Or2t1 UTSW 14 14,328,462 (GRCm38) missense probably damaging 1.00
R5402:Or2t1 UTSW 14 14,328,878 (GRCm38) missense probably damaging 1.00
R5787:Or2t1 UTSW 14 14,328,725 (GRCm38) missense probably damaging 0.98
R5897:Or2t1 UTSW 14 14,328,120 (GRCm38) missense probably benign 0.00
R7340:Or2t1 UTSW 14 14,328,401 (GRCm38) missense possibly damaging 0.90
R7709:Or2t1 UTSW 14 14,328,384 (GRCm38) missense probably damaging 1.00
R8284:Or2t1 UTSW 14 14,329,011 (GRCm38) missense possibly damaging 0.91
R9166:Or2t1 UTSW 14 14,329,059 (GRCm38) missense probably benign 0.14
R9427:Or2t1 UTSW 14 14,328,456 (GRCm38) missense probably damaging 1.00
R9481:Or2t1 UTSW 14 14,328,756 (GRCm38) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- GGATCTTTGGATGGCTTCCTCC -3'
(R):5'- TCAGCATGGGTGTGAGAATG -3'

Sequencing Primer
(F):5'- ACTCCAATCACCATGAGTTTTCC -3'
(R):5'- TCAGCATGGGTGTGAGAATGGTATAG -3'
Posted On 2014-06-23