Incidental Mutation 'IGL02394:Or5b120'
ID 293912
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b120
Ensembl Gene ENSMUSG00000071629
Gene Name olfactory receptor family 5 subfamily B member 120
Synonyms Olfr1477, MOR202-10, GA_x6K02T2RE5P-3834960-3835907
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02394
Quality Score
Status
Chromosome 19
Chromosomal Location 13477910-13480656 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13480228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 174 (N174D)
Ref Sequence ENSEMBL: ENSMUSP00000149565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096201] [ENSMUST00000214274] [ENSMUST00000217001]
AlphaFold Q7TQQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000096201
AA Change: N174D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093915
Gene: ENSMUSG00000095189
AA Change: N174D

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 3.9e-53 PFAM
Pfam:7TM_GPCR_Srsx 34 304 2.6e-6 PFAM
Pfam:7tm_1 40 289 1.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208393
Predicted Effect probably damaging
Transcript: ENSMUST00000214274
AA Change: N174D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217001
AA Change: N174D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 G A 1: 176,886,985 (GRCm39) T288M probably damaging Het
Baat A T 4: 49,489,812 (GRCm39) probably benign Het
Bclaf3 A G X: 158,338,485 (GRCm39) Y444C probably damaging Het
Bcs1l A G 1: 74,629,459 (GRCm39) T166A probably damaging Het
Cep135 C T 5: 76,779,318 (GRCm39) T776I probably benign Het
Clasrp A G 7: 19,337,179 (GRCm39) L12P probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp4f15 A G 17: 32,911,609 (GRCm39) I164V possibly damaging Het
Eps15 T A 4: 109,170,162 (GRCm39) L155M probably damaging Het
Fbxl20 G A 11: 98,004,082 (GRCm39) R69W probably damaging Het
Galnt9 A G 5: 110,763,365 (GRCm39) M457V probably damaging Het
Gemin2 T A 12: 59,060,842 (GRCm39) probably null Het
Gm20521 T A 14: 55,135,499 (GRCm39) Y175N probably damaging Het
Gm3298 T A 14: 5,018,778 (GRCm38) C178S probably benign Het
Gpr37l1 T C 1: 135,094,746 (GRCm39) N166S probably damaging Het
Gpr45 A G 1: 43,069,272 (GRCm39) probably benign Het
Gpr75 T C 11: 30,842,190 (GRCm39) I365T possibly damaging Het
Gsdmc2 T C 15: 63,707,729 (GRCm39) R22G probably damaging Het
Il23r T C 6: 67,443,256 (GRCm39) probably benign Het
Itgam A T 7: 127,684,114 (GRCm39) T340S probably benign Het
Klk1b24 A G 7: 43,841,294 (GRCm39) D209G possibly damaging Het
Med13l A C 5: 118,886,898 (GRCm39) T1600P probably benign Het
Muc16 G T 9: 18,409,996 (GRCm39) H137Q probably damaging Het
Nin T C 12: 70,090,805 (GRCm39) E870G probably damaging Het
Or12k7 A G 2: 36,958,497 (GRCm39) Y60C probably damaging Het
Or6c215 A T 10: 129,638,182 (GRCm39) F71I possibly damaging Het
Pkhd1 T C 1: 20,269,710 (GRCm39) K3278R possibly damaging Het
Prlr A G 15: 10,328,664 (GRCm39) N380D probably benign Het
Rpgr A C X: 10,032,456 (GRCm39) S582R probably benign Het
Rph3a T C 5: 121,084,411 (GRCm39) probably null Het
Setd5 A G 6: 113,087,859 (GRCm39) H140R probably benign Het
Stoml3 C A 3: 53,405,540 (GRCm39) probably benign Het
Teddm1a A C 1: 153,767,545 (GRCm39) D3A probably benign Het
Tmem207 A G 16: 26,335,586 (GRCm39) probably benign Het
Triml1 T A 8: 43,591,629 (GRCm39) Q243L possibly damaging Het
Usp5 G A 6: 124,799,672 (GRCm39) T274M probably damaging Het
Vav2 A G 2: 27,187,671 (GRCm39) probably benign Het
Wdr5b A G 16: 35,862,633 (GRCm39) N251D probably damaging Het
Wnk2 C A 13: 49,235,375 (GRCm39) probably null Het
Other mutations in Or5b120
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01926:Or5b120 APN 19 13,480,105 (GRCm39) missense possibly damaging 0.55
R0047:Or5b120 UTSW 19 13,479,953 (GRCm39) missense probably benign 0.30
R0047:Or5b120 UTSW 19 13,479,953 (GRCm39) missense probably benign 0.30
R0356:Or5b120 UTSW 19 13,480,441 (GRCm39) missense possibly damaging 0.74
R0617:Or5b120 UTSW 19 13,479,900 (GRCm39) missense probably damaging 1.00
R1589:Or5b120 UTSW 19 13,480,121 (GRCm39) missense probably benign 0.03
R1725:Or5b120 UTSW 19 13,479,883 (GRCm39) missense probably damaging 1.00
R2153:Or5b120 UTSW 19 13,479,852 (GRCm39) missense probably damaging 1.00
R2362:Or5b120 UTSW 19 13,479,872 (GRCm39) missense probably damaging 1.00
R3402:Or5b120 UTSW 19 13,480,312 (GRCm39) missense probably benign 0.11
R4513:Or5b120 UTSW 19 13,479,986 (GRCm39) missense probably benign 0.05
R5197:Or5b120 UTSW 19 13,479,748 (GRCm39) missense possibly damaging 0.68
R5205:Or5b120 UTSW 19 13,480,163 (GRCm39) missense probably damaging 1.00
R5511:Or5b120 UTSW 19 13,480,556 (GRCm39) missense probably benign 0.12
R5838:Or5b120 UTSW 19 13,479,922 (GRCm39) missense probably damaging 1.00
R6023:Or5b120 UTSW 19 13,480,067 (GRCm39) missense probably damaging 1.00
R6232:Or5b120 UTSW 19 13,480,427 (GRCm39) missense probably damaging 1.00
R6700:Or5b120 UTSW 19 13,480,177 (GRCm39) missense probably damaging 0.97
R6769:Or5b120 UTSW 19 13,480,318 (GRCm39) missense possibly damaging 0.83
R6771:Or5b120 UTSW 19 13,480,318 (GRCm39) missense possibly damaging 0.83
R7002:Or5b120 UTSW 19 13,480,039 (GRCm39) missense probably benign 0.00
R7057:Or5b120 UTSW 19 13,480,243 (GRCm39) missense probably damaging 1.00
R7320:Or5b120 UTSW 19 13,480,544 (GRCm39) missense possibly damaging 0.89
R7827:Or5b120 UTSW 19 13,480,587 (GRCm39) missense probably damaging 1.00
R7913:Or5b120 UTSW 19 13,480,571 (GRCm39) missense probably damaging 1.00
R9199:Or5b120 UTSW 19 13,480,436 (GRCm39) missense probably damaging 1.00
R9286:Or5b120 UTSW 19 13,479,791 (GRCm39) missense possibly damaging 0.88
R9523:Or5b120 UTSW 19 13,479,712 (GRCm39) missense probably benign
R9606:Or5b120 UTSW 19 13,479,943 (GRCm39) nonsense probably null
Posted On 2015-04-16