Incidental Mutation 'R6131:Or8b53'
ID 487137
Institutional Source Beutler Lab
Gene Symbol Or8b53
Ensembl Gene ENSMUSG00000061039
Gene Name olfactory receptor family 8 subfamily B member 53
Synonyms MOR165-6, GA_x6K02T2PVTD-32458442-32459374, Olfr920
MMRRC Submission 044278-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6131 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 38664092-38668159 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38667362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 126 (I126N)
Ref Sequence ENSEMBL: ENSMUSP00000074300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074740]
AlphaFold E9Q413
Predicted Effect probably damaging
Transcript: ENSMUST00000074740
AA Change: I126N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074300
Gene: ENSMUSG00000061039
AA Change: I126N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.2e-47 PFAM
Pfam:7tm_1 41 290 3.6e-22 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 96% (50/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,844,793 (GRCm39) W75R probably damaging Het
Aadacl2fm3 A G 3: 59,776,324 (GRCm39) K165R possibly damaging Het
Abca15 T C 7: 119,939,428 (GRCm39) V274A probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ap1m2 T C 9: 21,207,797 (GRCm39) Y396C probably damaging Het
Apob T C 12: 8,065,874 (GRCm39) S405P probably benign Het
Arhgap26 G T 18: 39,419,638 (GRCm39) G533* probably null Het
Atxn2l T C 7: 126,102,337 (GRCm39) probably benign Het
Ccdc88c A T 12: 100,907,387 (GRCm39) L995H probably damaging Het
Ccn3 A G 15: 54,612,756 (GRCm39) D255G probably benign Het
Cep192 A G 18: 67,971,068 (GRCm39) H1023R possibly damaging Het
Cog5 T A 12: 31,936,220 (GRCm39) M589K possibly damaging Het
Col25a1 C A 3: 130,329,114 (GRCm39) P337Q probably damaging Het
Cyfip1 T G 7: 55,523,228 (GRCm39) V51G possibly damaging Het
Dnah7b A T 1: 46,292,626 (GRCm39) I3004F probably damaging Het
Dsg3 A T 18: 20,671,569 (GRCm39) D758V probably damaging Het
Dsg3 A G 18: 20,653,534 (GRCm39) probably null Het
Eml5 A T 12: 98,827,510 (GRCm39) H573Q probably damaging Het
Erp27 T C 6: 136,885,201 (GRCm39) D199G probably damaging Het
Flnb A G 14: 7,894,635 (GRCm38) Y811C possibly damaging Het
G6pd2 A T 5: 61,966,593 (GRCm39) S123C probably benign Het
Gm1818 T A 12: 48,602,319 (GRCm39) noncoding transcript Het
Gm29340 C T 2: 116,798,519 (GRCm39) noncoding transcript Het
H2bc7 C A 13: 23,758,310 (GRCm39) probably benign Het
Hcn2 G T 10: 79,569,742 (GRCm39) G581W probably damaging Het
Kidins220 T C 12: 25,042,313 (GRCm39) probably null Het
Lonp1 T C 17: 56,921,457 (GRCm39) E926G probably benign Het
Lrp1 T C 10: 127,396,026 (GRCm39) I2415V probably benign Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Mmp10 A G 9: 7,503,633 (GRCm39) probably null Het
Myo16 T A 8: 10,619,877 (GRCm39) I1476N probably benign Het
Nectin3 G T 16: 46,215,515 (GRCm39) H76N probably damaging Het
Nphs2 G A 1: 156,153,521 (GRCm39) R204Q probably damaging Het
Or5ac15 T C 16: 58,940,256 (GRCm39) Y59C probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pate10 T A 9: 35,652,840 (GRCm39) C27* probably null Het
Psme2b T C 11: 48,836,752 (GRCm39) D65G probably damaging Het
Rlf T C 4: 121,012,172 (GRCm39) K214E probably damaging Het
Rnasel A T 1: 153,630,206 (GRCm39) T241S probably damaging Het
Samd9l C G 6: 3,377,252 (GRCm39) G3A probably benign Het
Smg7 A G 1: 152,720,962 (GRCm39) probably null Het
Spag16 A G 1: 70,764,242 (GRCm39) probably null Het
Spata31d1c T A 13: 65,183,485 (GRCm39) D342E probably benign Het
Stab2 A G 10: 86,719,642 (GRCm39) probably null Het
Taar7b A T 10: 23,876,615 (GRCm39) Y260F probably benign Het
Vcpip1 T C 1: 9,817,517 (GRCm39) I289V probably damaging Het
Vmn2r130 C T 17: 23,282,629 (GRCm39) A103V probably benign Het
Vmn2r39 A G 7: 9,017,963 (GRCm39) V791A probably damaging Het
Vmn2r66 T A 7: 84,644,224 (GRCm39) I729F probably damaging Het
Zfp536 T A 7: 37,269,137 (GRCm39) D93V probably damaging Het
Other mutations in Or8b53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Or8b53 APN 9 38,667,550 (GRCm39) missense probably damaging 1.00
IGL01728:Or8b53 APN 9 38,667,391 (GRCm39) missense possibly damaging 0.63
IGL01867:Or8b53 APN 9 38,667,194 (GRCm39) missense probably damaging 1.00
IGL02271:Or8b53 APN 9 38,667,784 (GRCm39) missense probably benign
IGL03078:Or8b53 APN 9 38,667,541 (GRCm39) nonsense probably null
R0166:Or8b53 UTSW 9 38,667,484 (GRCm39) missense probably benign
R0446:Or8b53 UTSW 9 38,667,114 (GRCm39) missense probably damaging 1.00
R0453:Or8b53 UTSW 9 38,667,425 (GRCm39) missense probably damaging 0.99
R0556:Or8b53 UTSW 9 38,667,041 (GRCm39) missense possibly damaging 0.88
R1585:Or8b53 UTSW 9 38,667,716 (GRCm39) missense probably damaging 1.00
R2847:Or8b53 UTSW 9 38,667,332 (GRCm39) missense possibly damaging 0.89
R4676:Or8b53 UTSW 9 38,666,955 (GRCm39) start gained probably benign
R4825:Or8b53 UTSW 9 38,667,703 (GRCm39) missense probably damaging 1.00
R5026:Or8b53 UTSW 9 38,667,041 (GRCm39) missense probably benign 0.01
R5144:Or8b53 UTSW 9 38,667,689 (GRCm39) missense possibly damaging 0.90
R5573:Or8b53 UTSW 9 38,667,000 (GRCm39) missense probably damaging 1.00
R5872:Or8b53 UTSW 9 38,667,412 (GRCm39) missense probably benign 0.06
R6729:Or8b53 UTSW 9 38,667,124 (GRCm39) missense probably benign 0.00
R7731:Or8b53 UTSW 9 38,667,542 (GRCm39) missense possibly damaging 0.90
R7800:Or8b53 UTSW 9 38,667,914 (GRCm39) missense probably damaging 0.97
R8960:Or8b53 UTSW 9 38,667,385 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- AAGTACCCCTGTTCCTGGTC -3'
(R):5'- CATTGACATAGGTGCTGGTGC -3'

Sequencing Primer
(F):5'- AACTGCATTGGGGAATTTGAC -3'
(R):5'- TGCAGGAGAGTTGCAGC -3'
Posted On 2017-10-10