Incidental Mutation 'R7590:Or2t43'
ID 587367
Institutional Source Beutler Lab
Gene Symbol Or2t43
Ensembl Gene ENSMUSG00000059279
Gene Name olfactory receptor family 2 subfamily T member 43
Synonyms GA_x6K02T00261-652-347, Olfr224, Olfr327-ps1, GA_x6K02T2NKPP-858022-858862, MOR275-10_p, MOR275-3
MMRRC Submission 045669-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R7590 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58456682-58461379 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58458085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 29 (I29V)
Ref Sequence ENSEMBL: ENSMUSP00000150143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081102] [ENSMUST00000215322] [ENSMUST00000216758] [ENSMUST00000217009]
AlphaFold M9MMJ7
Predicted Effect probably benign
Transcript: ENSMUST00000081102
AA Change: I29V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000079881
Gene: ENSMUSG00000059279
AA Change: I29V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 33 299 5.1e-7 PFAM
Pfam:7tm_1 39 288 4.4e-35 PFAM
Pfam:7tm_4 137 281 5.8e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215322
AA Change: I29V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000216758
AA Change: I29V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000217009
AA Change: I29V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (48/49)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,829,341 (GRCm39) T1373S probably damaging Het
Bbox1 A T 2: 110,098,577 (GRCm39) N333K probably benign Het
Bcl11b T A 12: 107,969,402 (GRCm39) M1L probably benign Het
C1s2 T A 6: 124,609,087 (GRCm39) I157F probably damaging Het
Casp1 T A 9: 5,306,710 (GRCm39) M384K probably damaging Het
Chpt1 A G 10: 88,316,688 (GRCm39) S257P probably damaging Het
Dennd4a G A 9: 64,795,869 (GRCm39) G731D probably benign Het
Dlk2 A T 17: 46,609,609 (GRCm39) S21C probably benign Het
Ell2 T C 13: 75,918,854 (GRCm39) L620P probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fip1l1 T C 5: 74,752,435 (GRCm39) V414A probably benign Het
Fmo1 T A 1: 162,687,251 (GRCm39) probably benign Het
Fyb2 A G 4: 104,802,443 (GRCm39) N115S probably benign Het
Gdi2 A G 13: 3,614,611 (GRCm39) T319A probably benign Het
Hecw1 A G 13: 14,438,668 (GRCm39) V905A probably damaging Het
Ireb2 T A 9: 54,803,779 (GRCm39) V490D probably benign Het
Itprid2 G T 2: 79,488,454 (GRCm39) V846F possibly damaging Het
Lbr A G 1: 181,649,076 (GRCm39) S348P probably damaging Het
Loxhd1 T A 18: 77,409,330 (GRCm39) D191E possibly damaging Het
Mlip A T 9: 77,137,325 (GRCm39) D527E probably benign Het
Myom2 A G 8: 15,167,679 (GRCm39) Y1088C probably damaging Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Nckap5 G T 1: 125,954,270 (GRCm39) Q761K probably benign Het
Neb A T 2: 52,133,854 (GRCm39) D3376E probably damaging Het
Nek10 A G 14: 15,006,693 (GRCm38) *1116W probably null Het
Or52d3 T C 7: 104,229,149 (GRCm39) S99P probably damaging Het
Or5p1 A T 7: 107,916,386 (GRCm39) H95L probably benign Het
Pak2 A T 16: 31,871,014 (GRCm39) I56K probably benign Het
Pgm5 T C 19: 24,686,629 (GRCm39) Y526C probably damaging Het
Phc2 T A 4: 128,641,820 (GRCm39) L714H probably damaging Het
Phf13 A T 4: 152,076,232 (GRCm39) D223E probably damaging Het
Pkd1l2 T C 8: 117,807,525 (GRCm39) D171G probably benign Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rbm6 A T 9: 107,668,949 (GRCm39) probably null Het
Scn10a A G 9: 119,495,466 (GRCm39) M352T probably damaging Het
Sh3d19 G A 3: 86,022,213 (GRCm39) V548I possibly damaging Het
Slc13a4 T A 6: 35,256,398 (GRCm39) I321F possibly damaging Het
Spata9 T C 13: 76,125,771 (GRCm39) S85P possibly damaging Het
Speer4a2 G T 5: 26,290,764 (GRCm39) H136N possibly damaging Het
Ssb G A 2: 69,697,634 (GRCm39) A122T probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Ten1 T C 11: 116,096,466 (GRCm39) L40P possibly damaging Het
Tex10 A C 4: 48,467,725 (GRCm39) V358G probably damaging Het
Tmprss11c A T 5: 86,387,332 (GRCm39) H195Q probably benign Het
Tor4a A G 2: 25,085,810 (GRCm39) V31A possibly damaging Het
Trim29 G A 9: 43,222,788 (GRCm39) A206T probably damaging Het
Trim71 A C 9: 114,391,893 (GRCm39) V98G probably benign Het
Trpm6 C G 19: 18,809,945 (GRCm39) L1114V probably benign Het
Usp1 A G 4: 98,822,489 (GRCm39) D601G possibly damaging Het
Vmn2r18 T A 5: 151,485,194 (GRCm39) I767F probably damaging Het
Other mutations in Or2t43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Or2t43 APN 11 58,457,593 (GRCm39) missense probably damaging 1.00
IGL02327:Or2t43 APN 11 58,457,761 (GRCm39) missense probably damaging 1.00
IGL02904:Or2t43 APN 11 58,457,623 (GRCm39) missense possibly damaging 0.61
IGL02968:Or2t43 APN 11 58,458,021 (GRCm39) missense possibly damaging 0.90
R1704:Or2t43 UTSW 11 58,457,580 (GRCm39) missense probably damaging 0.97
R2055:Or2t43 UTSW 11 58,457,673 (GRCm39) missense probably damaging 0.99
R3925:Or2t43 UTSW 11 58,457,652 (GRCm39) missense probably benign 0.34
R4093:Or2t43 UTSW 11 58,457,655 (GRCm39) missense probably damaging 1.00
R4902:Or2t43 UTSW 11 58,457,451 (GRCm39) missense possibly damaging 0.60
R4955:Or2t43 UTSW 11 58,457,344 (GRCm39) missense probably damaging 1.00
R4956:Or2t43 UTSW 11 58,457,344 (GRCm39) missense probably damaging 1.00
R4957:Or2t43 UTSW 11 58,457,344 (GRCm39) missense probably damaging 1.00
R5436:Or2t43 UTSW 11 58,457,763 (GRCm39) missense probably benign 0.34
R6699:Or2t43 UTSW 11 58,458,031 (GRCm39) missense possibly damaging 0.69
R6825:Or2t43 UTSW 11 58,457,476 (GRCm39) missense possibly damaging 0.89
R7467:Or2t43 UTSW 11 58,457,288 (GRCm39) missense possibly damaging 0.82
R7600:Or2t43 UTSW 11 58,458,162 (GRCm39) missense probably benign 0.17
R7725:Or2t43 UTSW 11 58,457,593 (GRCm39) missense probably damaging 1.00
R8438:Or2t43 UTSW 11 58,457,665 (GRCm39) missense possibly damaging 0.74
R8848:Or2t43 UTSW 11 58,457,902 (GRCm39) missense probably damaging 1.00
R8867:Or2t43 UTSW 11 58,457,562 (GRCm39) missense probably damaging 0.99
R9376:Or2t43 UTSW 11 58,457,683 (GRCm39) missense possibly damaging 0.74
X0026:Or2t43 UTSW 11 58,458,000 (GRCm39) missense possibly damaging 0.50
Z1186:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1186:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1186:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1187:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1187:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1187:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1188:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1188:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1188:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1189:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1189:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1189:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1190:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1190:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1190:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1191:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1191:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Z1191:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1192:Or2t43 UTSW 11 58,457,920 (GRCm39) missense probably benign 0.02
Z1192:Or2t43 UTSW 11 58,457,521 (GRCm39) missense probably benign 0.00
Z1192:Or2t43 UTSW 11 58,457,388 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGCTGAGATCTTGTGGTTCCC -3'
(R):5'- CTTTATCAGATCCACAATCCCAGAG -3'

Sequencing Primer
(F):5'- AGATCTTGTGGTTCCCCAGGAC -3'
(R):5'- GAACCTTCTCAGGACAGTGGACTTC -3'
Posted On 2019-10-24