Incidental Mutation 'R7964:Or4a80'
ID 650248
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 046007-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7964 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 89582214-89583170 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89583158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 5 (N5D)
Ref Sequence ENSEMBL: ENSMUSP00000151024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099765] [ENSMUST00000213484] [ENSMUST00000215185] [ENSMUST00000215988]
AlphaFold A2AUA2
Predicted Effect possibly damaging
Transcript: ENSMUST00000099765
AA Change: N5D

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097353
Gene: ENSMUSG00000075075
AA Change: N5D

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 9.2e-46 PFAM
Pfam:7tm_1 39 285 1.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213484
AA Change: N5D

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215185
AA Change: N5D

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215988
AA Change: N5D

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,266,146 (GRCm39) M3042L probably benign Het
Abca3 T A 17: 24,621,410 (GRCm39) L1345Q probably benign Het
Adam20 G T 8: 41,249,944 (GRCm39) V685F probably damaging Het
Adam25 T A 8: 41,208,576 (GRCm39) I614N probably damaging Het
Aldh1a7 C T 19: 20,677,371 (GRCm39) V417M probably damaging Het
Aldh1a7 C T 19: 20,693,406 (GRCm39) G171D probably benign Het
Aloxe3 T C 11: 69,017,362 (GRCm39) F45S probably damaging Het
Ankrd26 T C 6: 118,500,160 (GRCm39) I1104V probably benign Het
Ap3d1 C A 10: 80,565,891 (GRCm39) R92L probably damaging Het
Aspm A G 1: 139,408,424 (GRCm39) Q2437R probably damaging Het
Bcl11a T C 11: 24,113,353 (GRCm39) I232T probably benign Het
Cdcp3 G T 7: 130,899,963 (GRCm39) R2102L unknown Het
Cemip2 T C 19: 21,775,794 (GRCm39) probably null Het
Cfap97 A G 8: 46,623,237 (GRCm39) D209G possibly damaging Het
Csmd2 A G 4: 128,417,303 (GRCm39) M2754V Het
Dcdc2c A G 12: 28,520,318 (GRCm39) I586T Het
Dkk4 T C 8: 23,115,368 (GRCm39) C73R probably damaging Het
Dnai3 T C 3: 145,774,531 (GRCm39) N439D probably benign Het
Dzip3 T C 16: 48,772,268 (GRCm39) D467G probably damaging Het
Eif5 T C 12: 111,506,608 (GRCm39) F67L probably benign Het
Elmod1 A G 9: 53,838,860 (GRCm39) I100T probably benign Het
Gm9837 A G 11: 53,361,001 (GRCm39) L71P unknown Het
Hpse A G 5: 100,846,777 (GRCm39) probably null Het
Insc T C 7: 114,445,708 (GRCm39) L472P probably damaging Het
Itgax A C 7: 127,739,590 (GRCm39) probably null Het
Lair1 A G 7: 4,013,803 (GRCm39) V148A probably benign Het
Lama2 A G 10: 27,099,977 (GRCm39) probably null Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lgr5 T C 10: 115,288,079 (GRCm39) D855G probably benign Het
Lrp1 C A 10: 127,410,913 (GRCm39) R1425L possibly damaging Het
Lrp1b A G 2: 40,488,523 (GRCm39) S4521P Het
Nbas A G 12: 13,406,896 (GRCm39) Y831C probably damaging Het
Nek9 C A 12: 85,385,787 (GRCm39) R70L probably benign Het
Nlrp2 A C 7: 5,331,527 (GRCm39) L290V probably damaging Het
Nos1 T A 5: 118,038,607 (GRCm39) I480N probably damaging Het
Pcdhb13 C A 18: 37,577,871 (GRCm39) Q750K possibly damaging Het
Pik3c2g C T 6: 139,827,786 (GRCm39) T727I Het
Pik3r6 C A 11: 68,424,565 (GRCm39) P390Q probably benign Het
Pramel1 T C 4: 143,123,810 (GRCm39) S162P probably benign Het
Psg21 A G 7: 18,381,136 (GRCm39) M469T probably benign Het
Psg27 A T 7: 18,299,124 (GRCm39) W66R probably damaging Het
Sbno2 A G 10: 79,904,185 (GRCm39) C371R probably damaging Het
Shroom1 G T 11: 53,355,149 (GRCm39) K329N possibly damaging Het
Slc35a3 A G 3: 116,480,984 (GRCm39) I93T possibly damaging Het
Slc38a2 G A 15: 96,590,453 (GRCm39) T297M probably benign Het
Sorl1 T A 9: 41,902,697 (GRCm39) D1620V probably damaging Het
Srsf4 T A 4: 131,618,544 (GRCm39) L45Q probably benign Het
Tcaf2 G A 6: 42,606,640 (GRCm39) S438L probably benign Het
Trappc11 T A 8: 47,979,979 (GRCm39) I186L possibly damaging Het
Usp9y A T Y: 1,316,914 (GRCm39) N1878K probably benign Het
Zfp280d T A 9: 72,229,740 (GRCm39) M349K probably damaging Het
Zgpat A G 2: 181,020,274 (GRCm39) H227R probably benign 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
R6021:Or4a80 UTSW 2 89,582,465 (GRCm39) missense probably benign 0.13
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
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'- TCCATGAGTGACAGAGAGGC -3'
(R):5'- GCACTCAGAGATTTATTGTCAGG -3'

Sequencing Primer
(F):5'- CAAGGAAGAAGTACATTGGGGAGC -3'
(R):5'- GTCAGGAAACAAGTGAAGCTTATTAC -3'
Posted On 2020-09-15