Incidental Mutation 'IGL02937:Or6aa1'
ID 364362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or6aa1
Ensembl Gene ENSMUSG00000039608
Gene Name olfactory receptor family 6 subfamily AA member 1
Synonyms MOR104-2, Olfr303, GA_x6K02T2NHDJ-9712819-9713778
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL02937
Quality Score
Status
Chromosome 7
Chromosomal Location 86043704-86044743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86043798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 303 (K303E)
Ref Sequence ENSEMBL: ENSMUSP00000149419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053958] [ENSMUST00000215234] [ENSMUST00000215532] [ENSMUST00000215733] [ENSMUST00000216409]
AlphaFold Q8VFP0
Predicted Effect possibly damaging
Transcript: ENSMUST00000053958
AA Change: K303E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000062459
Gene: ENSMUSG00000039608
AA Change: K303E

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.2e-52 PFAM
Pfam:7tm_1 41 307 4.9e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215234
AA Change: K303E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215532
AA Change: K303E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215733
AA Change: K303E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216409
AA Change: K303E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,206,049 (GRCm39) C21Y probably damaging Het
4933427D06Rik T C 6: 89,085,127 (GRCm39) noncoding transcript Het
5730480H06Rik A G 5: 48,536,783 (GRCm39) I160V probably benign Het
Arhgap29 G A 3: 121,767,698 (GRCm39) E47K probably damaging Het
Arhgef12 T A 9: 42,927,216 (GRCm39) S303C probably damaging Het
Bap1 A G 14: 30,980,284 (GRCm39) N644S probably benign Het
Cc2d1b A G 4: 108,489,091 (GRCm39) E796G probably damaging Het
Cfh C A 1: 140,033,180 (GRCm39) R788L probably benign Het
Cldn1 A G 16: 26,179,623 (GRCm39) F148S probably damaging Het
Cryzl1 A G 16: 91,487,619 (GRCm39) M292T possibly damaging Het
Cyp11b1 T C 15: 74,708,408 (GRCm39) R385G possibly damaging Het
Cyp4f37 T C 17: 32,844,163 (GRCm39) L89P probably benign Het
Dach1 A G 14: 98,153,231 (GRCm39) probably null Het
Dhtkd1 A G 2: 5,922,716 (GRCm39) I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 (GRCm39) D44E probably damaging Het
Dsg1a T A 18: 20,464,591 (GRCm39) I362N possibly damaging Het
Ecm2 T A 13: 49,671,952 (GRCm39) I151N probably damaging Het
Far1 T A 7: 113,139,855 (GRCm39) I101N probably damaging Het
Gm21985 T C 2: 112,172,207 (GRCm39) S384P probably benign Het
Gnb5 T C 9: 75,247,471 (GRCm39) Y247H probably damaging Het
Golgb1 A G 16: 36,736,572 (GRCm39) K1940E probably damaging Het
Gprc5b A G 7: 118,583,017 (GRCm39) V284A probably benign Het
Idh2 T C 7: 79,748,661 (GRCm39) Y179C probably damaging Het
Kalrn G A 16: 34,040,500 (GRCm39) Q737* probably null Het
Kcnj13 T C 1: 87,314,175 (GRCm39) D349G probably damaging Het
Lgsn A T 1: 31,243,318 (GRCm39) T467S possibly damaging Het
Map9 T A 3: 82,270,819 (GRCm39) S128T possibly damaging Het
Mroh5 A G 15: 73,661,827 (GRCm39) C455R probably damaging Het
Nes A G 3: 87,887,186 (GRCm39) H1771R probably benign Het
Nkain2 T C 10: 32,205,840 (GRCm39) Y65C probably damaging Het
Or51a43 T A 7: 103,718,056 (GRCm39) M61L probably damaging Het
Or51b6b A T 7: 103,310,112 (GRCm39) V115D probably damaging Het
Pabpc4l A C 3: 46,400,725 (GRCm39) D306E probably benign Het
Parp12 A T 6: 39,079,515 (GRCm39) Y332N probably damaging Het
Parvb A T 15: 84,193,154 (GRCm39) K316M probably damaging Het
Pde8a T A 7: 80,945,519 (GRCm39) probably benign Het
Polq A G 16: 36,833,471 (GRCm39) T55A probably benign Het
Ppp2r5b T A 19: 6,281,016 (GRCm39) K271M probably damaging Het
Ralgapb A G 2: 158,334,936 (GRCm39) probably null Het
Rigi C T 4: 40,229,661 (GRCm39) C86Y probably benign Het
Skap2 T C 6: 51,886,351 (GRCm39) N175D probably benign Het
Slc44a3 A G 3: 121,303,970 (GRCm39) probably benign Het
Smurf2 G A 11: 106,736,873 (GRCm39) H318Y probably damaging Het
Tbc1d23 T C 16: 57,004,778 (GRCm39) T460A possibly damaging Het
Tcerg1 T C 18: 42,657,414 (GRCm39) S299P unknown Het
Tll1 A C 8: 64,658,319 (GRCm39) Y33* probably null Het
Tmem59 A T 4: 107,054,782 (GRCm39) T196S probably damaging Het
Ttll4 C A 1: 74,718,662 (GRCm39) A171D possibly damaging Het
Ttn T C 2: 76,641,513 (GRCm39) T13528A possibly damaging Het
Ttn A G 2: 76,717,621 (GRCm39) probably benign Het
Xpc C A 6: 91,477,119 (GRCm39) G327W probably damaging Het
Zbtb7a A G 10: 80,980,132 (GRCm39) S109G probably benign Het
Zfyve26 T C 12: 79,285,794 (GRCm39) M2328V probably benign Het
Other mutations in Or6aa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02228:Or6aa1 APN 7 86,044,286 (GRCm39) missense possibly damaging 0.50
IGL02902:Or6aa1 APN 7 86,043,743 (GRCm39) utr 3 prime probably benign
BB001:Or6aa1 UTSW 7 86,043,938 (GRCm39) missense probably damaging 1.00
BB011:Or6aa1 UTSW 7 86,043,938 (GRCm39) missense probably damaging 1.00
R1455:Or6aa1 UTSW 7 86,043,803 (GRCm39) missense probably damaging 0.97
R1524:Or6aa1 UTSW 7 86,044,020 (GRCm39) missense probably benign 0.01
R1762:Or6aa1 UTSW 7 86,044,353 (GRCm39) missense probably damaging 0.97
R3014:Or6aa1 UTSW 7 86,043,884 (GRCm39) missense probably benign 0.19
R3027:Or6aa1 UTSW 7 86,043,761 (GRCm39) missense probably benign 0.00
R4073:Or6aa1 UTSW 7 86,044,155 (GRCm39) missense probably damaging 0.98
R4502:Or6aa1 UTSW 7 86,044,485 (GRCm39) missense possibly damaging 0.49
R4503:Or6aa1 UTSW 7 86,044,485 (GRCm39) missense possibly damaging 0.49
R4607:Or6aa1 UTSW 7 86,043,718 (GRCm39) splice site probably null
R4608:Or6aa1 UTSW 7 86,043,718 (GRCm39) splice site probably null
R7134:Or6aa1 UTSW 7 86,044,752 (GRCm39) start gained probably benign
R7298:Or6aa1 UTSW 7 86,044,131 (GRCm39) missense probably damaging 1.00
R7827:Or6aa1 UTSW 7 86,043,765 (GRCm39) nonsense probably null
R7924:Or6aa1 UTSW 7 86,043,938 (GRCm39) missense probably damaging 1.00
R8160:Or6aa1 UTSW 7 86,044,473 (GRCm39) missense possibly damaging 0.61
R8294:Or6aa1 UTSW 7 86,044,487 (GRCm39) missense probably damaging 1.00
R9465:Or6aa1 UTSW 7 86,043,864 (GRCm39) missense probably benign 0.00
R9725:Or6aa1 UTSW 7 86,043,973 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18