Incidental Mutation 'R1925:Or8u9'
ID 213325
Institutional Source Beutler Lab
Gene Symbol Or8u9
Ensembl Gene ENSMUSG00000075200
Gene Name olfactory receptor family 8 subfamily U member 9
Synonyms GA_x6K02T2Q125-47640742-47639798, MOR185-4, Olfr1044
MMRRC Submission 039943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R1925 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86001215-86002159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86001354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 269 (D269G)
Ref Sequence ENSEMBL: ENSMUSP00000150199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099906] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215171] [ENSMUST00000216028]
AlphaFold Q8VGR9
Predicted Effect probably benign
Transcript: ENSMUST00000099906
AA Change: D269G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097490
Gene: ENSMUSG00000075200
AA Change: D269G

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.7e-59 PFAM
Pfam:7tm_1 41 290 2.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213886
Predicted Effect probably benign
Transcript: ENSMUST00000213949
Predicted Effect probably benign
Transcript: ENSMUST00000215171
AA Change: D269G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215739
Predicted Effect probably benign
Transcript: ENSMUST00000216028
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency 99% (79/80)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,617,333 (GRCm39) H577R probably damaging Het
Acvr1 T C 2: 58,337,661 (GRCm39) M474V probably damaging Het
Adam1a A T 5: 121,657,513 (GRCm39) C593* probably null Het
Agap2 A G 10: 126,926,744 (GRCm39) N927S probably damaging Het
Ahctf1 T C 1: 179,598,218 (GRCm39) H958R probably damaging Het
Apaf1 A G 10: 90,835,581 (GRCm39) V1088A probably damaging Het
Brpf1 G T 6: 113,296,891 (GRCm39) K958N probably damaging Het
Cadps A G 14: 12,705,726 (GRCm38) I223T probably damaging Het
Catsperg2 T C 7: 29,397,189 (GRCm39) M1105V probably benign Het
Clasp2 T A 9: 113,735,265 (GRCm39) F1033L possibly damaging Het
Col4a3 T A 1: 82,678,094 (GRCm39) I1232N unknown Het
Col4a3 T G 1: 82,689,595 (GRCm39) probably benign Het
Comtd1 T G 14: 21,897,731 (GRCm39) E134A probably damaging Het
Cyp2c55 A T 19: 39,022,821 (GRCm39) T320S probably benign Het
Dlx2 T C 2: 71,376,522 (GRCm39) N72S probably benign Het
Dnhd1 T A 7: 105,301,459 (GRCm39) V272E probably damaging Het
Dnhd1 T A 7: 105,323,061 (GRCm39) I523N probably damaging Het
Dpysl3 T A 18: 43,465,996 (GRCm39) I140F probably damaging Het
Elmod2 G A 8: 84,048,093 (GRCm39) A123V probably benign Het
Etv4 T C 11: 101,662,507 (GRCm39) probably benign Het
F3 A T 3: 121,523,032 (GRCm39) T81S probably damaging Het
Faf2 C T 13: 54,799,865 (GRCm39) A224V probably damaging Het
Fbn1 A T 2: 125,205,549 (GRCm39) M1109K probably damaging Het
Fnbp4 A G 2: 90,596,187 (GRCm39) E586G probably damaging Het
Gm10428 G T 11: 62,644,179 (GRCm39) probably benign Het
Gm5884 A T 6: 128,622,050 (GRCm39) noncoding transcript Het
Gm6471 T A 7: 142,385,319 (GRCm39) noncoding transcript Het
Gtse1 T C 15: 85,757,939 (GRCm39) V515A probably benign Het
H2-M2 T C 17: 37,793,391 (GRCm39) E205G probably damaging Het
Ido1 T A 8: 25,075,306 (GRCm39) T259S possibly damaging Het
Il1r2 A G 1: 40,154,308 (GRCm39) Y225C probably damaging Het
Kcnq3 T G 15: 65,876,658 (GRCm39) D495A possibly damaging Het
Lrrc49 T C 9: 60,556,773 (GRCm39) N321D probably benign Het
Lztr1 G T 16: 17,341,247 (GRCm39) R291L probably damaging Het
Micu1 C T 10: 59,568,983 (GRCm39) probably benign Het
Msh5 C T 17: 35,248,928 (GRCm39) V702I probably benign Het
Myh1 T C 11: 67,101,996 (GRCm39) I792T probably benign Het
Nav1 T A 1: 135,534,967 (GRCm39) probably benign Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or11i1 C T 3: 106,729,688 (GRCm39) M62I probably damaging Het
Or5ac22 A G 16: 59,135,027 (GRCm39) S248P probably damaging Het
Otof G C 5: 30,551,532 (GRCm39) N340K probably benign Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Plek2 T A 12: 78,941,664 (GRCm39) Y155F probably damaging Het
Ppa1 T A 10: 61,487,388 (GRCm39) Y38* probably null Het
Pramel22 T A 4: 143,381,025 (GRCm39) T333S probably damaging Het
Prmt9 T A 8: 78,303,968 (GRCm39) C684S possibly damaging Het
Rasl10a A G 11: 5,009,473 (GRCm39) D87G possibly damaging Het
Rtn4rl1 C A 11: 75,156,864 (GRCm39) P432Q probably benign Het
Scd4 T G 19: 44,329,823 (GRCm39) Y265D probably damaging Het
Scn5a C T 9: 119,358,085 (GRCm39) A719T probably benign Het
Sdk1 T A 5: 142,171,040 (GRCm39) F1968I probably benign Het
Sh3bp5 T C 14: 31,157,880 (GRCm39) E12G probably benign Het
Slc6a12 T A 6: 121,337,485 (GRCm39) F390I probably benign Het
Snapin A T 3: 90,397,539 (GRCm39) D77E possibly damaging Het
Sox2 G T 3: 34,704,820 (GRCm39) E86* probably null Het
Sparcl1 A G 5: 104,241,220 (GRCm39) L68P probably benign Het
Sptb T A 12: 76,669,027 (GRCm39) E562V probably damaging Het
Taar3 A T 10: 23,826,483 (GRCm39) H343L probably benign Het
Tanc1 T A 2: 59,555,095 (GRCm39) V51E possibly damaging Het
Tbc1d22a T C 15: 86,123,350 (GRCm39) S128P probably damaging Het
Thada A G 17: 84,751,927 (GRCm39) S350P probably benign Het
Tmem161b T C 13: 84,408,348 (GRCm39) V93A probably benign Het
Tnn T C 1: 159,924,799 (GRCm39) Y1185C probably damaging Het
Trim43a T C 9: 88,464,371 (GRCm39) V94A probably benign Het
Ttll12 C T 15: 83,465,976 (GRCm39) E407K probably benign Het
Ttn T C 2: 76,555,856 (GRCm39) E30383G probably damaging Het
Vmn1r29 T A 6: 58,285,087 (GRCm39) M269K possibly damaging Het
Vmn2r117 A G 17: 23,697,363 (GRCm39) S110P probably benign Het
Vmn2r6 C A 3: 64,463,698 (GRCm39) V290L possibly damaging Het
Vmn2r8 A T 5: 108,950,019 (GRCm39) L276Q probably damaging Het
Zan C A 5: 137,423,904 (GRCm39) C2665F unknown Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp983 A G 17: 21,880,933 (GRCm39) H287R probably damaging Het
Other mutations in Or8u9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01614:Or8u9 APN 2 86,001,741 (GRCm39) missense possibly damaging 0.90
IGL02562:Or8u9 APN 2 86,001,384 (GRCm39) missense probably damaging 1.00
R0230:Or8u9 UTSW 2 86,001,886 (GRCm39) missense probably benign 0.22
R0306:Or8u9 UTSW 2 86,002,060 (GRCm39) missense possibly damaging 0.80
R0373:Or8u9 UTSW 2 86,002,050 (GRCm39) missense probably damaging 0.98
R0539:Or8u9 UTSW 2 86,001,387 (GRCm39) missense probably damaging 0.98
R2367:Or8u9 UTSW 2 86,001,981 (GRCm39) missense probably damaging 1.00
R4114:Or8u9 UTSW 2 86,001,759 (GRCm39) missense possibly damaging 0.90
R4850:Or8u9 UTSW 2 86,002,015 (GRCm39) missense probably damaging 1.00
R4851:Or8u9 UTSW 2 86,002,015 (GRCm39) missense probably damaging 1.00
R7402:Or8u9 UTSW 2 86,001,546 (GRCm39) missense probably benign 0.34
R7439:Or8u9 UTSW 2 86,001,354 (GRCm39) missense probably damaging 1.00
R7441:Or8u9 UTSW 2 86,001,354 (GRCm39) missense probably damaging 1.00
R7624:Or8u9 UTSW 2 86,001,564 (GRCm39) missense possibly damaging 0.95
R8096:Or8u9 UTSW 2 86,002,056 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGATATGTGGAACGGTTTCG -3'
(R):5'- AGCTATGGATCTTTGTCTGCGC -3'

Sequencing Primer
(F):5'- TCCCATTCTCAAAATGAAAGAACAGG -3'
(R):5'- TGCGCTGGCATCATGTTC -3'
Posted On 2014-07-14