Incidental Mutation 'R5511:Or5b120'
ID 431261
Institutional Source Beutler Lab
Gene Symbol Or5b120
Ensembl Gene ENSMUSG00000071629
Gene Name olfactory receptor family 5 subfamily B member 120
Synonyms Olfr1477, MOR202-10, GA_x6K02T2RE5P-3834960-3835907
MMRRC Submission 043072-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5511 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 13477910-13480656 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13480556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 283 (M283T)
Ref Sequence ENSEMBL: ENSMUSP00000149565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096201] [ENSMUST00000214274] [ENSMUST00000217001]
AlphaFold Q7TQQ7
Predicted Effect probably benign
Transcript: ENSMUST00000096201
AA Change: M283T

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000093915
Gene: ENSMUSG00000095189
AA Change: M283T

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 benign
Transcript: ENSMUST00000214274
AA Change: M283T

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000217001
AA Change: M283T

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.1%
  • 20x: 90.3%
Validation Efficiency 98% (81/83)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T C 3: 59,654,685 (GRCm39) L173P probably damaging Het
Agl A T 3: 116,582,209 (GRCm39) V271D possibly damaging Het
Alox15 G T 11: 70,240,808 (GRCm39) P191T probably benign Het
Apaf1 T C 10: 90,890,254 (GRCm39) Y583C probably damaging Het
Aqp9 T A 9: 71,070,375 (GRCm39) probably benign Het
Bms1 A G 6: 118,365,848 (GRCm39) F1113L possibly damaging Het
Cap1 A C 4: 122,756,583 (GRCm39) probably benign Het
Car11 T C 7: 45,349,885 (GRCm39) W35R probably damaging Het
Casc3 T A 11: 98,701,740 (GRCm39) Y91* probably null Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Cd22 A T 7: 30,569,496 (GRCm39) I540N probably damaging Het
Chad A T 11: 94,456,072 (GRCm39) E50V probably damaging Het
Chd3 C G 11: 69,252,301 (GRCm39) G34R probably damaging Het
Col9a1 T C 1: 24,218,619 (GRCm39) V77A unknown Het
Copg1 G A 6: 87,889,276 (GRCm39) V873M probably damaging Het
Dnhd1 T A 7: 105,363,363 (GRCm39) V3975E probably damaging Het
Dock6 A T 9: 21,728,703 (GRCm39) V1290D possibly damaging Het
Elp2 A T 18: 24,745,507 (GRCm39) K150* probably null Het
Eri3 A C 4: 117,472,386 (GRCm39) Y260S possibly damaging Het
Esrrg C T 1: 187,943,304 (GRCm39) L426F probably damaging Het
Farp1 G T 14: 121,474,584 (GRCm39) V266L probably damaging Het
Flnc A G 6: 29,458,897 (GRCm39) E2459G probably damaging Het
Glis1 G A 4: 107,293,074 (GRCm39) D66N probably damaging Het
Gm14129 T A 2: 148,773,446 (GRCm39) noncoding transcript Het
Gm28051 A G 12: 102,686,415 (GRCm39) *82R probably null Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Gne C T 4: 44,041,843 (GRCm39) V485M probably damaging Het
Lcn10 T A 2: 25,572,841 (GRCm39) V15E probably benign Het
Mapk11 T A 15: 89,029,380 (GRCm39) probably null Het
Me3 T G 7: 89,455,876 (GRCm39) Y243D probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Myo1h T A 5: 114,483,958 (GRCm39) L519* probably null Het
Myo9a T C 9: 59,687,495 (GRCm39) V200A probably damaging Het
Mzf1 T A 7: 12,785,526 (GRCm39) Q161H possibly damaging Het
Nim1k T G 13: 120,189,130 (GRCm39) H93P probably damaging Het
Nkx6-1 C A 5: 101,811,532 (GRCm39) R190L probably damaging Het
Noc3l A G 19: 38,782,625 (GRCm39) V671A probably benign Het
Nsd1 T C 13: 55,460,543 (GRCm39) S2257P probably benign Het
Nup210 T A 6: 91,003,945 (GRCm39) I648F probably damaging Het
Oplah T C 15: 76,189,944 (GRCm39) E223G possibly damaging Het
Plekhs1 A C 19: 56,474,224 (GRCm39) T457P probably damaging Het
Plppr4 G A 3: 117,119,551 (GRCm39) T286I probably benign Het
Prpf4b T C 13: 35,068,037 (GRCm39) probably benign Het
Prss39 T A 1: 34,541,878 (GRCm39) D318E possibly damaging Het
Psap A G 10: 60,134,959 (GRCm39) E289G possibly damaging Het
Rad17 A G 13: 100,764,157 (GRCm39) V438A possibly damaging Het
Raf1 T C 6: 115,597,217 (GRCm39) S28G probably benign Het
Ranbp2 A G 10: 58,329,561 (GRCm39) D2978G probably benign Het
Rnf170 T A 8: 26,631,027 (GRCm39) D213E probably damaging Het
Rsph3a T A 17: 8,164,905 (GRCm39) H88Q possibly damaging Het
Scd1 A G 19: 44,395,198 (GRCm39) I9T probably benign Het
Sgk3 T C 1: 9,968,911 (GRCm39) probably benign Het
Slc14a1 C T 18: 78,145,686 (GRCm39) S416N probably benign Het
Smok4a T C 17: 13,746,474 (GRCm39) noncoding transcript Het
Sostdc1 A T 12: 36,367,165 (GRCm39) I114F probably damaging Het
Spen G A 4: 141,202,375 (GRCm39) T2084I possibly damaging Het
Spen G T 4: 141,244,149 (GRCm39) D295E unknown Het
Sptbn5 T C 2: 119,890,202 (GRCm39) probably benign Het
Srebf1 T C 11: 60,101,184 (GRCm39) probably benign Het
Tcea3 A T 4: 135,998,683 (GRCm39) Y319F probably damaging Het
Timd4 T A 11: 46,710,807 (GRCm39) probably null Het
Tmem88b G A 4: 155,870,002 (GRCm39) P20S probably damaging Het
Tsen2 T A 6: 115,538,365 (GRCm39) C281S probably damaging Het
Vmn2r28 T C 7: 5,487,011 (GRCm39) T551A possibly damaging Het
Vmn2r45 T C 7: 8,474,832 (GRCm39) H732R probably benign Het
Wdr90 A G 17: 26,063,995 (GRCm39) probably benign Het
Zdbf2 T C 1: 63,344,836 (GRCm39) S1072P probably benign Het
Zfp148 A G 16: 33,255,004 (GRCm39) probably benign Het
Zfp2 T A 11: 50,790,851 (GRCm39) E397D probably damaging Het
Zfp729b A G 13: 67,740,499 (GRCm39) F599L probably damaging Het
Other mutations in Or5b120
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01926:Or5b120 APN 19 13,480,105 (GRCm39) missense possibly damaging 0.55
IGL02394:Or5b120 APN 19 13,480,228 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- AATTGTGAGAATGCGCTCTGC -3'
(R):5'- GTGGTCAGTATTGGGTATCCTAATATC -3'

Sequencing Primer
(F):5'- CTGAGAGCAGGAAGAAGGCC -3'
(R):5'- TCCAACATTTGCTGTATATTGTCTG -3'
Posted On 2016-10-05