Incidental Mutation 'IGL03350:Or5aq1b'
ID 419647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5aq1b
Ensembl Gene ENSMUSG00000075163
Gene Name olfactory receptor family 5 subfamily AQ member 1B
Synonyms GA_x6K02T2Q125-48565383-48564445, Olfr1107, MOR172-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL03350
Quality Score
Status
Chromosome 2
Chromosomal Location 86901459-86902567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 86901904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 191 (D191E)
Ref Sequence ENSEMBL: ENSMUSP00000150135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099865] [ENSMUST00000214049]
AlphaFold A2AVB8
Predicted Effect probably damaging
Transcript: ENSMUST00000099865
AA Change: D191E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097450
Gene: ENSMUSG00000075163
AA Change: D191E

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.9e-53 PFAM
Pfam:7tm_1 41 290 1.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214049
AA Change: D191E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,022,589 (GRCm39) Y300* probably null Het
Adgre1 T A 17: 57,708,908 (GRCm39) V33E probably benign Het
AI987944 A G 7: 41,042,661 (GRCm39) probably benign Het
Atp4a T C 7: 30,420,292 (GRCm39) L813P probably damaging Het
Blmh A G 11: 76,862,774 (GRCm39) N396D probably damaging Het
Brat1 T C 5: 140,691,750 (GRCm39) L9P probably damaging Het
Ccdc171 T C 4: 83,599,615 (GRCm39) I810T possibly damaging Het
Clec2m C A 6: 129,307,986 (GRCm39) V28L probably benign Het
Cyp2a22 T C 7: 26,634,279 (GRCm39) T292A possibly damaging Het
Ecm2 C T 13: 49,674,420 (GRCm39) T280I probably benign Het
Fa2h C T 8: 112,075,928 (GRCm39) V232I probably benign Het
Fbxw24 T C 9: 109,436,081 (GRCm39) D317G probably damaging Het
Flt4 C A 11: 49,525,620 (GRCm39) S722* probably null Het
Fryl T C 5: 73,290,649 (GRCm39) Q85R probably damaging Het
Gm3239 A G 14: 15,882,083 (GRCm39) R188G possibly damaging Het
Hspa13 A T 16: 75,554,717 (GRCm39) S456R probably damaging Het
Htr1b T C 9: 81,514,175 (GRCm39) Y144C probably damaging Het
Hydin A G 8: 111,038,856 (GRCm39) H198R possibly damaging Het
Krt78 A T 15: 101,854,952 (GRCm39) M953K probably benign Het
Lgr5 G T 10: 115,307,893 (GRCm39) T255K probably damaging Het
Lrp2 T A 2: 69,268,797 (GRCm39) D4162V probably damaging Het
Map3k2 A G 18: 32,345,201 (GRCm39) D342G probably damaging Het
Miip A G 4: 147,946,979 (GRCm39) V258A probably benign Het
Muc6 T C 7: 141,238,324 (GRCm39) H52R probably damaging Het
Nfs1 T C 2: 155,969,660 (GRCm39) E329G probably benign Het
Npsr1 T C 9: 24,009,605 (GRCm39) V37A probably benign Het
Or1ak2 T C 2: 36,827,595 (GRCm39) Y155H probably damaging Het
Or1e17 A T 11: 73,831,664 (GRCm39) L197F probably damaging Het
Pex16 T A 2: 92,207,842 (GRCm39) M98K probably damaging Het
Pla2r1 C T 2: 60,285,517 (GRCm39) C699Y probably damaging Het
Plcd4 A T 1: 74,588,460 (GRCm39) D103V probably damaging Het
Pnpla1 A G 17: 29,095,966 (GRCm39) D129G probably damaging Het
Rad23a T C 8: 85,564,108 (GRCm39) E265G possibly damaging Het
Rbm11 C T 16: 75,397,696 (GRCm39) P209S probably benign Het
Ribc2 T A 15: 85,019,703 (GRCm39) W162R probably damaging Het
Rnf4 A G 5: 34,504,204 (GRCm39) E32G possibly damaging Het
Rpe65 A T 3: 159,320,154 (GRCm39) S269C possibly damaging Het
Slc7a14 T A 3: 31,291,558 (GRCm39) Y240F probably benign Het
Sorbs2 C T 8: 46,258,844 (GRCm39) P1047L probably damaging Het
Ttn T C 2: 76,580,166 (GRCm39) I23576V probably damaging Het
Usp24 T G 4: 106,228,276 (GRCm39) Y780* probably null Het
Wee2 T C 6: 40,426,665 (GRCm39) S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 (GRCm39) T126A probably benign Het
Zpld1 A G 16: 55,061,692 (GRCm39) probably benign Het
Zup1 G A 10: 33,804,107 (GRCm39) R456C probably benign Het
Other mutations in Or5aq1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Or5aq1b APN 2 86,901,563 (GRCm39) missense probably benign 0.00
IGL01521:Or5aq1b APN 2 86,902,077 (GRCm39) missense probably benign 0.11
PIT4791001:Or5aq1b UTSW 2 86,902,046 (GRCm39) missense possibly damaging 0.94
R0801:Or5aq1b UTSW 2 86,902,407 (GRCm39) nonsense probably null
R1383:Or5aq1b UTSW 2 86,902,136 (GRCm39) missense probably damaging 1.00
R1577:Or5aq1b UTSW 2 86,901,741 (GRCm39) missense probably benign 0.15
R1762:Or5aq1b UTSW 2 86,902,265 (GRCm39) missense probably damaging 1.00
R2027:Or5aq1b UTSW 2 86,901,897 (GRCm39) missense possibly damaging 0.85
R3850:Or5aq1b UTSW 2 86,902,310 (GRCm39) missense possibly damaging 0.89
R5345:Or5aq1b UTSW 2 86,901,836 (GRCm39) missense possibly damaging 0.61
R5409:Or5aq1b UTSW 2 86,902,214 (GRCm39) missense possibly damaging 0.64
R5451:Or5aq1b UTSW 2 86,902,341 (GRCm39) missense probably damaging 1.00
R5735:Or5aq1b UTSW 2 86,901,756 (GRCm39) missense probably damaging 1.00
R6091:Or5aq1b UTSW 2 86,901,705 (GRCm39) missense probably benign 0.03
R6869:Or5aq1b UTSW 2 86,902,017 (GRCm39) missense probably benign 0.11
R7080:Or5aq1b UTSW 2 86,902,083 (GRCm39) missense probably damaging 1.00
R8130:Or5aq1b UTSW 2 86,901,570 (GRCm39) missense probably benign 0.09
R8147:Or5aq1b UTSW 2 86,902,017 (GRCm39) missense probably benign 0.11
R9087:Or5aq1b UTSW 2 86,902,299 (GRCm39) missense probably damaging 1.00
R9619:Or5aq1b UTSW 2 86,902,140 (GRCm39) missense possibly damaging 0.94
Z1177:Or5aq1b UTSW 2 86,902,457 (GRCm39) missense probably damaging 1.00
Z1177:Or5aq1b UTSW 2 86,902,109 (GRCm39) missense possibly damaging 0.72
Posted On 2016-08-02