Incidental Mutation 'R7589:Or4a2'
ID 587297
Institutional Source Beutler Lab
Gene Symbol Or4a2
Ensembl Gene ENSMUSG00000075088
Gene Name olfactory receptor family 4 subfamily A member 2
Synonyms GA_x6K02T2Q125-50861284-50860367, Olfr1239, MOR231-3
MMRRC Submission 045637-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7589 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 89247838-89248755 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89248724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 11 (V11A)
Ref Sequence ENSEMBL: ENSMUSP00000149898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099780] [ENSMUST00000216762] [ENSMUST00000217181]
AlphaFold Q8VGM8
Predicted Effect possibly damaging
Transcript: ENSMUST00000099780
AA Change: V11A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097368
Gene: ENSMUSG00000075088
AA Change: V11A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-46 PFAM
Pfam:7tm_1 39 285 3.7e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216762
AA Change: V11A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217181
AA Change: V11A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T G 7: 41,276,396 (GRCm39) C700G probably damaging Het
4930486L24Rik T C 13: 60,990,747 (GRCm39) K316E probably damaging Het
Akap6 A T 12: 53,188,846 (GRCm39) K2087* probably null Het
Alpk2 A T 18: 65,433,144 (GRCm39) H1320Q probably damaging Het
Aox1 A T 1: 58,080,643 (GRCm39) R31W probably damaging Het
Asnsd1 G T 1: 53,387,126 (GRCm39) A167E probably benign Het
Atg14 T C 14: 47,780,547 (GRCm39) D409G probably benign Het
Atp13a3 T A 16: 30,163,433 (GRCm39) E574D probably benign Het
Bicd1 A T 6: 149,415,165 (GRCm39) Y626F possibly damaging Het
Cdc5l C T 17: 45,721,707 (GRCm39) R521Q probably benign Het
Dglucy T C 12: 100,807,660 (GRCm39) F160L probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fmo9 T A 1: 166,501,997 (GRCm39) K209N possibly damaging Het
Gsdmc2 C A 15: 63,696,892 (GRCm39) L426F probably damaging Het
Hip1 T C 5: 135,443,165 (GRCm39) D956G probably benign Het
Kif28 C T 1: 179,558,965 (GRCm39) V248I probably benign Het
Klk10 T C 7: 43,433,051 (GRCm39) V149A probably benign Het
Krt40 G T 11: 99,430,983 (GRCm39) N255K probably damaging Het
Map4k4 T A 1: 40,060,251 (GRCm39) Y1013* probably null Het
Mcur1 T C 13: 43,705,101 (GRCm39) Y185C probably damaging Het
Mzt1 T C 14: 99,273,948 (GRCm39) probably null Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Nkx1-2 T C 7: 132,201,204 (GRCm39) I18V probably damaging Het
Ofcc1 T A 13: 40,408,960 (GRCm39) Q155L probably benign Het
Or1ad1 A T 11: 50,875,857 (GRCm39) M110L probably damaging Het
Or4k38 T C 2: 111,165,719 (GRCm39) K235E probably damaging Het
Or51q1 T C 7: 103,628,998 (GRCm39) Y200H probably damaging Het
Or9s15 G A 1: 92,524,781 (GRCm39) R180H probably benign Het
Prnp A G 2: 131,778,786 (GRCm39) D146G probably benign Het
Rhbdf1 C T 11: 32,162,903 (GRCm39) V455I probably benign Het
Rnf6 G A 5: 146,148,239 (GRCm39) R260W possibly damaging Het
Rtl1 T C 12: 109,560,279 (GRCm39) N520S possibly damaging Het
Setbp1 A T 18: 78,899,707 (GRCm39) M1320K probably benign Het
Slc39a8 A G 3: 135,590,123 (GRCm39) T338A probably damaging Het
Tcf4 A G 18: 69,815,890 (GRCm39) *693W probably null Het
Ttc8 A T 12: 98,942,696 (GRCm39) D412V probably damaging Het
Ush2a G T 1: 188,275,046 (GRCm39) A1840S probably benign Het
Vmn1r60 A T 7: 5,547,688 (GRCm39) S137R Het
Vmn1r91 T A 7: 19,835,802 (GRCm39) H240Q probably benign Het
Vmn2r107 A T 17: 20,595,634 (GRCm39) H729L probably benign Het
Yme1l1 C T 2: 23,050,274 (GRCm39) T35I probably benign Het
Zfp292 A G 4: 34,806,777 (GRCm39) V2094A probably damaging Het
Zfp934 A T 13: 62,666,130 (GRCm39) N202K Het
Other mutations in Or4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03186:Or4a2 APN 2 89,248,188 (GRCm39) missense probably damaging 0.99
PIT4810001:Or4a2 UTSW 2 89,248,297 (GRCm39) missense probably damaging 1.00
R0271:Or4a2 UTSW 2 89,248,502 (GRCm39) missense probably benign 0.00
R0521:Or4a2 UTSW 2 89,248,544 (GRCm39) missense probably damaging 1.00
R0667:Or4a2 UTSW 2 89,248,032 (GRCm39) missense probably benign 0.05
R1738:Or4a2 UTSW 2 89,248,362 (GRCm39) missense probably benign 0.02
R1955:Or4a2 UTSW 2 89,248,755 (GRCm39) start codon destroyed probably damaging 1.00
R3114:Or4a2 UTSW 2 89,248,757 (GRCm39) splice site probably null
R4110:Or4a2 UTSW 2 89,248,444 (GRCm39) missense probably benign 0.01
R4111:Or4a2 UTSW 2 89,248,444 (GRCm39) missense probably benign 0.01
R4796:Or4a2 UTSW 2 89,248,235 (GRCm39) missense probably damaging 0.99
R4951:Or4a2 UTSW 2 89,248,116 (GRCm39) missense probably benign 0.01
R5751:Or4a2 UTSW 2 89,248,031 (GRCm39) missense probably damaging 1.00
R6331:Or4a2 UTSW 2 89,248,695 (GRCm39) missense probably benign 0.04
R7249:Or4a2 UTSW 2 89,248,217 (GRCm39) missense probably damaging 1.00
R7352:Or4a2 UTSW 2 89,248,311 (GRCm39) missense probably damaging 1.00
R7476:Or4a2 UTSW 2 89,247,843 (GRCm39) missense possibly damaging 0.69
R7493:Or4a2 UTSW 2 89,248,145 (GRCm39) missense probably benign 0.08
R9091:Or4a2 UTSW 2 89,248,712 (GRCm39) missense probably damaging 1.00
R9270:Or4a2 UTSW 2 89,248,712 (GRCm39) missense probably damaging 1.00
R9749:Or4a2 UTSW 2 89,248,662 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- GTGGTTGAATACACAGCATCC -3'
(R):5'- ACACCATTGAATTTGGAGACTCC -3'

Sequencing Primer
(F):5'- GGTTGAATACACAGCATCCATAAATG -3'
(R):5'- CCATTGAATTTGGAGACTCCTATTTG -3'
Posted On 2019-10-24