Incidental Mutation 'IGL03374:Or9g4b'
ID 420411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or9g4b
Ensembl Gene ENSMUSG00000033850
Gene Name olfactory receptor family 9 subfamily G member 4B
Synonyms GA_x6K02T2Q125-47264151-47265089, Olfr1015, MOR213-3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # IGL03374
Quality Score
Status
Chromosome 2
Chromosomal Location 85615818-85616833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85616053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 66 (L66P)
Ref Sequence ENSEMBL: ENSMUSP00000148957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047870] [ENSMUST00000215945]
AlphaFold Q7TR94
Predicted Effect probably damaging
Transcript: ENSMUST00000047870
AA Change: L66P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046301
Gene: ENSMUSG00000033850
AA Change: L66P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.5e-49 PFAM
Pfam:7tm_1 41 290 4.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214726
Predicted Effect probably damaging
Transcript: ENSMUST00000215945
AA Change: L66P

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 G A 1: 58,211,007 (GRCm39) R917Q probably damaging Het
Atl1 T C 12: 70,002,141 (GRCm39) Y367H probably damaging Het
AW551984 T C 9: 39,511,062 (GRCm39) E175G possibly damaging Het
Cacna2d1 T A 5: 16,561,821 (GRCm39) D800E probably damaging Het
Cdon T A 9: 35,389,299 (GRCm39) F801L possibly damaging Het
Dcaf13 C T 15: 39,008,543 (GRCm39) Q382* probably null Het
Dpy19l3 T C 7: 35,411,633 (GRCm39) N367S possibly damaging Het
F11 A G 8: 45,714,111 (GRCm39) S3P possibly damaging Het
Fhip1b T C 7: 105,033,158 (GRCm39) E57G probably damaging Het
Fryl A T 5: 73,267,624 (GRCm39) probably benign Het
Gcnt3 A T 9: 69,941,695 (GRCm39) M291K possibly damaging Het
Glg1 T C 8: 111,889,412 (GRCm39) D927G probably damaging Het
Gm5862 C A 5: 26,224,510 (GRCm39) R153L probably damaging Het
Gucy2c T C 6: 136,742,628 (GRCm39) T237A probably benign Het
Helz A T 11: 107,510,973 (GRCm39) I610F probably damaging Het
Hpd T C 5: 123,310,108 (GRCm39) E372G probably damaging Het
Hsd17b13 A G 5: 104,124,964 (GRCm39) probably benign Het
Klhl32 G A 4: 24,649,533 (GRCm39) probably benign Het
Krt74 T A 15: 101,668,937 (GRCm39) noncoding transcript Het
Nopchap1 G A 10: 83,201,571 (GRCm39) V115M probably damaging Het
Or14a258 T A 7: 86,035,574 (GRCm39) Q98L probably damaging Het
Phyhipl A G 10: 70,401,109 (GRCm39) V163A possibly damaging Het
Pknox2 T A 9: 36,834,966 (GRCm39) T168S probably damaging Het
Pmfbp1 T C 8: 110,269,046 (GRCm39) probably benign Het
Sgce G A 6: 4,689,718 (GRCm39) R372* probably null Het
Stard5 T C 7: 83,285,980 (GRCm39) S102P possibly damaging Het
Syne2 A G 12: 76,121,360 (GRCm39) K5941R possibly damaging Het
Tas2r124 A T 6: 132,732,081 (GRCm39) H130L probably benign Het
Ttn T C 2: 76,546,027 (GRCm39) E32462G probably damaging Het
Tut4 T C 4: 108,415,974 (GRCm39) S1647P probably damaging Het
Ube2d3 A G 3: 135,165,844 (GRCm39) probably null Het
Vps13d G T 4: 144,835,145 (GRCm39) H1561Q possibly damaging Het
Other mutations in Or9g4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Or9g4b APN 2 85,616,461 (GRCm39) missense probably benign 0.21
IGL01716:Or9g4b APN 2 85,616,487 (GRCm39) missense probably damaging 0.97
IGL03196:Or9g4b APN 2 85,616,365 (GRCm39) missense possibly damaging 0.63
R0329:Or9g4b UTSW 2 85,616,147 (GRCm39) nonsense probably null
R0330:Or9g4b UTSW 2 85,616,147 (GRCm39) nonsense probably null
R0714:Or9g4b UTSW 2 85,616,743 (GRCm39) missense probably damaging 1.00
R0965:Or9g4b UTSW 2 85,616,643 (GRCm39) missense probably damaging 1.00
R1078:Or9g4b UTSW 2 85,616,437 (GRCm39) missense possibly damaging 0.53
R3826:Or9g4b UTSW 2 85,616,559 (GRCm39) nonsense probably null
R5031:Or9g4b UTSW 2 85,616,062 (GRCm39) nonsense probably null
R5239:Or9g4b UTSW 2 85,616,002 (GRCm39) missense probably damaging 1.00
R6120:Or9g4b UTSW 2 85,616,685 (GRCm39) missense probably damaging 1.00
R6177:Or9g4b UTSW 2 85,616,004 (GRCm39) missense probably damaging 0.99
R6726:Or9g4b UTSW 2 85,615,906 (GRCm39) missense possibly damaging 0.51
R6954:Or9g4b UTSW 2 85,616,726 (GRCm39) nonsense probably null
R7766:Or9g4b UTSW 2 85,616,002 (GRCm39) missense probably damaging 1.00
R8193:Or9g4b UTSW 2 85,616,305 (GRCm39) missense probably benign 0.34
R8245:Or9g4b UTSW 2 85,616,119 (GRCm39) missense probably benign 0.02
R8339:Or9g4b UTSW 2 85,615,876 (GRCm39) missense probably damaging 0.98
R9272:Or9g4b UTSW 2 85,616,088 (GRCm39) missense probably benign 0.09
Z1176:Or9g4b UTSW 2 85,616,464 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02