Incidental Mutation 'R4764:Or1ad1'
ID 357118
Institutional Source Beutler Lab
Gene Symbol Or1ad1
Ensembl Gene ENSMUSG00000061952
Gene Name olfactory receptor family 1 subfamily AD member 1
Synonyms Olfr1377, MOR129-1, GA_x6K02T2QP88-4453480-4452557
MMRRC Submission 042405-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R4764 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50875530-50876453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50875602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 25 (E25K)
Ref Sequence ENSEMBL: ENSMUSP00000151087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075177] [ENSMUST00000213291] [ENSMUST00000216101]
AlphaFold Q8VGH1
Predicted Effect probably benign
Transcript: ENSMUST00000075177
AA Change: E25K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074672
Gene: ENSMUSG00000061952
AA Change: E25K

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2e-51 PFAM
Pfam:7tm_1 41 289 1.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204581
AA Change: E25K
SMART Domains Protein: ENSMUSP00000144855
Gene: ENSMUSG00000061952
AA Change: E25K

DomainStartEndE-ValueType
Pfam:7tm_4 31 237 5.9e-36 PFAM
Pfam:7TM_GPCR_Srsx 35 227 1.9e-4 PFAM
Pfam:7tm_1 41 235 1.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213291
AA Change: E25K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216101
AA Change: E25K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 99% (78/79)
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
1700001J03Rik T G 5: 146,122,029 (GRCm39) S18R probably benign Het
2010315B03Rik A C 9: 124,056,396 (GRCm39) V176G probably benign Het
Abcb1a T A 5: 8,765,732 (GRCm39) probably null Het
Acad11 C A 9: 103,953,076 (GRCm39) P102T probably damaging Het
Aggf1 T A 13: 95,501,221 (GRCm39) D387V probably damaging Het
Akr1c13 G A 13: 4,248,496 (GRCm39) V234I probably benign Het
Alg5 A G 3: 54,653,894 (GRCm39) Y210C possibly damaging Het
Arl8a C A 1: 135,074,837 (GRCm39) A41E probably benign Het
Axin1 C A 17: 26,392,730 (GRCm39) T337K possibly damaging Het
Bdp1 A G 13: 100,192,775 (GRCm39) L1353P probably damaging Het
Bptf A T 11: 106,934,520 (GRCm39) V2851E probably damaging Het
C9 A T 15: 6,489,124 (GRCm39) E160D probably damaging Het
Cbx6 T C 15: 79,712,881 (GRCm39) D182G probably damaging Het
Cep57l1 T C 10: 41,597,678 (GRCm39) R242G possibly damaging Het
Chst8 T C 7: 34,375,149 (GRCm39) D230G probably damaging Het
Col3a1 A C 1: 45,385,270 (GRCm39) D129A probably damaging Het
Cst12 A G 2: 148,631,393 (GRCm39) E38G possibly damaging Het
Disp1 G T 1: 182,869,660 (GRCm39) A920E probably damaging Het
Dtna T G 18: 23,668,206 (GRCm39) probably null Het
Elp3 T A 14: 65,820,378 (GRCm39) H97L probably damaging Het
Exoc8 A G 8: 125,624,314 (GRCm39) F18L possibly damaging Het
Extl3 T C 14: 65,314,769 (GRCm39) T138A probably benign Het
Foxi2 G T 7: 135,012,396 (GRCm39) G95C probably damaging Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Frem1 A T 4: 82,907,426 (GRCm39) D811E probably damaging Het
Frmd4a A T 2: 4,608,259 (GRCm39) E709V probably damaging Het
Fscn3 T A 6: 28,436,200 (GRCm39) *499K probably null Het
Galc C T 12: 98,209,003 (GRCm39) G217D possibly damaging Het
Gm5592 G T 7: 40,865,542 (GRCm39) probably benign Het
Gm57858 T G 3: 36,064,809 (GRCm39) *521C probably null Het
Hnrnpul1 A G 7: 25,442,436 (GRCm39) S269P probably benign Het
Hrh1 T C 6: 114,457,496 (GRCm39) V259A probably benign Het
Lef1 T C 3: 130,978,382 (GRCm39) S167P probably benign Het
Mtf2 T C 5: 108,241,218 (GRCm39) I248T probably benign Het
Muc2 C T 7: 141,299,345 (GRCm39) T130M possibly damaging Het
Myo16 T C 8: 10,485,880 (GRCm39) F653S probably damaging Het
Myo1e T C 9: 70,250,417 (GRCm39) probably null Het
Myo5a G T 9: 75,023,618 (GRCm39) probably benign Het
Nlrp1b T A 11: 71,073,489 (GRCm39) D118V probably damaging Het
Npat T C 9: 53,483,920 (GRCm39) F1412S probably damaging Het
Onecut3 G T 10: 80,331,541 (GRCm39) A234S unknown Het
Or8b37 T G 9: 37,959,436 (GRCm39) L306R probably benign Het
Osbpl6 T A 2: 76,376,344 (GRCm39) I73K probably damaging Het
Otog C T 7: 45,937,943 (GRCm39) T1884I probably benign Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Pias4 A G 10: 80,999,868 (GRCm39) Y62H possibly damaging Het
Pknox1 T A 17: 31,809,687 (GRCm39) V97D possibly damaging Het
Plekhf1 A G 7: 37,921,022 (GRCm39) V182A probably damaging Het
Plscr4 T C 9: 92,366,833 (GRCm39) V149A probably damaging Het
Polr2l A T 7: 141,053,309 (GRCm39) L35Q probably damaging Het
Ppp3ca T C 3: 136,596,250 (GRCm39) I305T probably damaging Het
Ptprg G A 14: 12,122,068 (GRCm38) A311T probably benign Het
Raet1e T G 10: 22,057,231 (GRCm39) I185R probably damaging Het
Rims1 A C 1: 22,518,543 (GRCm39) V520G probably damaging Het
Rp1 A T 1: 4,416,101 (GRCm39) D1670E probably damaging Het
Rps6ka1 A T 4: 133,587,868 (GRCm39) I352N probably damaging Het
Rtp3 T C 9: 110,816,418 (GRCm39) probably benign Het
Ryr3 T A 2: 112,563,376 (GRCm39) probably null Het
Sall3 A G 18: 81,017,691 (GRCm39) V79A probably damaging Het
Sdsl C T 5: 120,600,119 (GRCm39) V93M probably damaging Het
Slc7a13 A G 4: 19,819,390 (GRCm39) N197D probably benign Het
Slit1 T A 19: 41,709,483 (GRCm39) R137* probably null Het
Stxbp5 C A 10: 9,646,367 (GRCm39) R115L probably damaging Het
Tcea1 G A 1: 4,965,167 (GRCm39) R290H probably damaging Het
Tmem132e A T 11: 82,325,338 (GRCm39) T113S probably damaging Het
Tpp1 A T 7: 105,398,458 (GRCm39) I286N probably damaging Het
Trio G A 15: 27,732,624 (GRCm39) R3086* probably null Het
Usp22 T A 11: 61,051,462 (GRCm39) N294Y probably damaging Het
Usp44 T A 10: 93,681,933 (GRCm39) S128T probably benign Het
Zc3h7b T C 15: 81,653,384 (GRCm39) probably null Het
Zfhx2 T C 14: 55,304,372 (GRCm39) Y1204C possibly damaging Het
Other mutations in Or1ad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Or1ad1 APN 11 50,875,830 (GRCm39) missense possibly damaging 0.94
R1386:Or1ad1 UTSW 11 50,876,194 (GRCm39) missense probably damaging 0.97
R1486:Or1ad1 UTSW 11 50,875,608 (GRCm39) missense probably benign 0.00
R1613:Or1ad1 UTSW 11 50,876,045 (GRCm39) missense probably damaging 1.00
R2224:Or1ad1 UTSW 11 50,876,059 (GRCm39) missense probably damaging 1.00
R2411:Or1ad1 UTSW 11 50,875,758 (GRCm39) missense probably damaging 0.98
R3014:Or1ad1 UTSW 11 50,875,534 (GRCm39) missense probably benign 0.00
R4080:Or1ad1 UTSW 11 50,875,683 (GRCm39) missense probably damaging 1.00
R4753:Or1ad1 UTSW 11 50,875,978 (GRCm39) missense probably benign 0.05
R4822:Or1ad1 UTSW 11 50,875,910 (GRCm39) nonsense probably null
R4865:Or1ad1 UTSW 11 50,876,370 (GRCm39) missense probably damaging 0.99
R5053:Or1ad1 UTSW 11 50,876,137 (GRCm39) missense probably damaging 1.00
R6054:Or1ad1 UTSW 11 50,875,631 (GRCm39) missense probably benign 0.00
R6368:Or1ad1 UTSW 11 50,875,613 (GRCm39) missense probably benign 0.00
R7589:Or1ad1 UTSW 11 50,875,857 (GRCm39) missense probably damaging 0.98
R7843:Or1ad1 UTSW 11 50,875,845 (GRCm39) missense probably benign 0.06
R8056:Or1ad1 UTSW 11 50,876,368 (GRCm39) missense probably damaging 0.98
R9189:Or1ad1 UTSW 11 50,876,166 (GRCm39) missense probably damaging 1.00
R9486:Or1ad1 UTSW 11 50,875,691 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TTCTCCATCAACCAGTAAAGCATTG -3'
(R):5'- TCTGGATCATGCACTCTGTG -3'

Sequencing Primer
(F):5'- TCAACCAGTAAAGCATTGCAAGATAG -3'
(R):5'- AAGAGATGGACTTGCTTCCC -3'
Posted On 2015-11-11