Incidental Mutation 'R6021:Or4a80'
ID 478919
Institutional Source Beutler Lab
Gene Symbol Or4a80
Ensembl Gene ENSMUSG00000075075
Gene Name olfactory receptor family 4 subfamily A member 80
Synonyms MOR231-19P, MOR231-19P, MOR231-18, GA_x6K02T2Q125-51193814-51192857, Olfr1253, Olfr1559-ps1, Olfr1253-ps1
MMRRC Submission 044194-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6021 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89582214-89583170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89582465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 236 (S236A)
Ref Sequence ENSEMBL: ENSMUSP00000151024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099765] [ENSMUST00000213484] [ENSMUST00000215185] [ENSMUST00000215988]
AlphaFold A2AUA2
Predicted Effect probably benign
Transcript: ENSMUST00000099765
AA Change: S236A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097353
Gene: ENSMUSG00000075075
AA Change: S236A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 9.2e-46 PFAM
Pfam:7tm_1 39 285 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213484
AA Change: S236A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215185
AA Change: S236A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215988
AA Change: S236A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 94% (61/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A G 4: 123,754,509 (GRCm39) D141G possibly damaging Het
A1bg T C 15: 60,791,713 (GRCm39) E241G possibly damaging Het
Abca13 G A 11: 9,240,465 (GRCm39) W776* probably null Het
Akr1b10 T A 6: 34,369,309 (GRCm39) probably null Het
Aopep A G 13: 63,208,896 (GRCm39) T338A probably damaging Het
Atf7 T C 15: 102,465,908 (GRCm39) D84G probably benign Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Azi2 T A 9: 117,876,487 (GRCm39) M1K probably null Het
Boc T A 16: 44,309,017 (GRCm39) M832L probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Cacna1s T C 1: 136,034,225 (GRCm39) L1050P probably benign Het
Celsr2 G T 3: 108,308,561 (GRCm39) P1789T probably benign Het
Crebbp G A 16: 3,903,282 (GRCm39) R1986C probably damaging Het
Crtam T A 9: 40,901,477 (GRCm39) I150F probably damaging Het
Crybg1 G T 10: 43,873,534 (GRCm39) S1191R probably damaging Het
D630045J12Rik T C 6: 38,167,552 (GRCm39) T1017A probably benign Het
Dnah10 A G 5: 124,814,048 (GRCm39) E396G probably damaging Het
Enpp5 A T 17: 44,396,210 (GRCm39) Y374F probably benign Het
Fzd4 G A 7: 89,056,942 (GRCm39) A330T probably benign Het
Gabra5 A G 7: 57,157,740 (GRCm39) S25P probably benign Het
Get1 T C 16: 95,946,878 (GRCm39) probably benign Het
Ggps1 T C 13: 14,228,589 (GRCm39) Y198C probably damaging Het
Gm3173 A C 14: 15,728,458 (GRCm39) D39A probably damaging Het
Grm2 T C 9: 106,527,999 (GRCm39) D295G probably damaging Het
H2-T13 T G 17: 36,392,166 (GRCm39) E182A probably damaging Het
Igfbp5 A G 1: 72,902,363 (GRCm39) M208T possibly damaging Het
Ildr2 T A 1: 166,131,173 (GRCm39) M343K possibly damaging Het
Kif19b A T 5: 140,455,434 (GRCm39) M347L probably damaging Het
Loxhd1 A T 18: 77,499,946 (GRCm39) D120V probably damaging Het
Lrp1 T C 10: 127,413,883 (GRCm39) D1175G probably damaging Het
Lrp1b C A 2: 41,234,439 (GRCm39) D1171Y probably benign Het
Lrrc9 A T 12: 72,516,005 (GRCm39) I563F probably damaging Het
Ltbp3 A T 19: 5,803,708 (GRCm39) T798S probably benign Het
Msantd4 T A 9: 4,384,063 (GRCm39) V128E probably benign Het
Mtf2 A G 5: 108,229,003 (GRCm39) I69V possibly damaging Het
Myh10 T A 11: 68,699,688 (GRCm39) S1712T possibly damaging Het
Mylk3 A G 8: 86,091,442 (GRCm39) V121A possibly damaging Het
Ndufaf4 A G 4: 24,901,760 (GRCm39) N100D probably benign Het
Notch2 T C 3: 98,029,288 (GRCm39) F1017S probably damaging Het
Or4a27 G T 2: 88,559,294 (GRCm39) Y216* probably null Het
Or4c108 G T 2: 88,803,376 (GRCm39) Y286* probably null Het
P2ry2 T C 7: 100,647,607 (GRCm39) T233A probably benign Het
Paip1 T "TTA,TT" 13: 119,593,671 (GRCm39) probably null Het
Pak1 T C 7: 97,503,670 (GRCm39) S2P probably damaging Het
Pde8b A T 13: 95,162,670 (GRCm39) D817E possibly damaging Het
Pfdn2 C A 1: 171,173,338 (GRCm39) probably benign Het
Pramel28 A T 4: 143,692,336 (GRCm39) C222S probably benign Het
Raver1 A G 9: 20,987,918 (GRCm39) L606P probably damaging Het
Robo3 C T 9: 37,333,829 (GRCm39) W668* probably null Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Rxfp2 A G 5: 149,987,202 (GRCm39) N337S possibly damaging Het
Samhd1 T C 2: 156,962,474 (GRCm39) probably null Het
Sardh A G 2: 27,079,655 (GRCm39) V879A probably benign Het
Slc4a4 A T 5: 89,188,261 (GRCm39) probably benign Het
Slc6a11 T C 6: 114,207,012 (GRCm39) L332P probably damaging Het
Tas2r135 T C 6: 42,383,321 (GRCm39) Y287H probably damaging Het
Tlr4 T A 4: 66,759,103 (GRCm39) I632N probably damaging Het
Tmem145 C T 7: 25,008,270 (GRCm39) probably null Het
Trmt61a C A 12: 111,647,411 (GRCm39) F169L probably damaging Het
Trp53tg5 T A 2: 164,313,391 (GRCm39) I95L probably benign Het
Vmn1r85 T C 7: 12,818,616 (GRCm39) E176G probably benign Het
Vmn2r75 T C 7: 85,820,820 (GRCm39) D38G probably benign Het
Vmn2r99 A G 17: 19,598,210 (GRCm39) Y78C probably damaging Het
Zfp964 G T 8: 70,115,742 (GRCm39) S114I unknown Het
Other mutations in Or4a80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01938:Or4a80 APN 2 89,582,692 (GRCm39) missense probably benign 0.12
IGL02287:Or4a80 APN 2 89,582,958 (GRCm39) nonsense probably null
IGL03149:Or4a80 APN 2 89,583,172 (GRCm39) splice site probably null
R0017:Or4a80 UTSW 2 89,582,365 (GRCm39) missense possibly damaging 0.67
R1466:Or4a80 UTSW 2 89,582,611 (GRCm39) missense probably damaging 1.00
R1466:Or4a80 UTSW 2 89,582,611 (GRCm39) missense probably damaging 1.00
R1584:Or4a80 UTSW 2 89,582,611 (GRCm39) missense probably damaging 1.00
R2008:Or4a80 UTSW 2 89,582,417 (GRCm39) missense possibly damaging 0.57
R2484:Or4a80 UTSW 2 89,582,578 (GRCm39) missense probably benign 0.00
R5135:Or4a80 UTSW 2 89,582,239 (GRCm39) missense possibly damaging 0.67
R5648:Or4a80 UTSW 2 89,582,417 (GRCm39) missense probably damaging 0.99
R6952:Or4a80 UTSW 2 89,582,971 (GRCm39) missense possibly damaging 0.64
R7039:Or4a80 UTSW 2 89,583,095 (GRCm39) missense probably benign 0.01
R7088:Or4a80 UTSW 2 89,582,443 (GRCm39) missense probably benign 0.01
R7443:Or4a80 UTSW 2 89,582,285 (GRCm39) missense probably benign 0.01
R7444:Or4a80 UTSW 2 89,583,103 (GRCm39) missense probably benign 0.01
R7538:Or4a80 UTSW 2 89,582,665 (GRCm39) missense probably damaging 1.00
R7594:Or4a80 UTSW 2 89,582,906 (GRCm39) missense probably benign 0.32
R7818:Or4a80 UTSW 2 89,582,288 (GRCm39) missense possibly damaging 0.90
R7964:Or4a80 UTSW 2 89,583,158 (GRCm39) missense possibly damaging 0.63
R8358:Or4a80 UTSW 2 89,582,423 (GRCm39) missense probably benign 0.24
R8438:Or4a80 UTSW 2 89,583,061 (GRCm39) missense probably damaging 0.98
R8493:Or4a80 UTSW 2 89,582,599 (GRCm39) missense probably benign 0.06
R8724:Or4a80 UTSW 2 89,582,373 (GRCm39) missense probably damaging 1.00
R8785:Or4a80 UTSW 2 89,583,298 (GRCm39) start gained probably benign
R9668:Or4a80 UTSW 2 89,582,636 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGGACTTAACATTTTCTGCAGGAG -3'
(R):5'- CCACTTTGGCTGTGACATATACC -3'

Sequencing Primer
(F):5'- AACATTTTCTGCAGGAGCTTTTC -3'
(R):5'- GGCTGTGACATATACCCATTATTAC -3'
Posted On 2017-06-26