Incidental Mutation 'R0109:Or4a69'
ID 64186
Institutional Source Beutler Lab
Gene Symbol Or4a69
Ensembl Gene ENSMUSG00000075086
Gene Name olfactory receptor family 4 subfamily A member 69
Synonyms MOR231-14, Olfr1241, GA_x6K02T2Q125-50926215-50925271
MMRRC Submission 038395-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R0109 (G1)
Quality Score 153
Status Not validated
Chromosome 2
Chromosomal Location 89311658-89317470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89313147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 111 (F111L)
Ref Sequence ENSEMBL: ENSMUSP00000149914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099778] [ENSMUST00000214743] [ENSMUST00000215055]
AlphaFold Q8VF91
Predicted Effect probably benign
Transcript: ENSMUST00000099778
AA Change: F111L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097366
Gene: ENSMUSG00000075086
AA Change: F111L

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-46 PFAM
Pfam:7tm_1 39 285 8.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214743
AA Change: F111L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215055
AA Change: F111L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,917,985 (GRCm39) K1496* probably null Het
Anapc1 C A 2: 128,476,613 (GRCm39) R1335L probably damaging Het
Arhgef10l A T 4: 140,305,605 (GRCm39) S203T probably benign Het
Astn1 C T 1: 158,491,674 (GRCm39) T41I possibly damaging Het
Avil A G 10: 126,849,513 (GRCm39) N603S probably benign Het
Brca1 T C 11: 101,421,916 (GRCm39) D149G possibly damaging Het
Col19a1 A C 1: 24,598,849 (GRCm39) probably null Het
Cps1 T C 1: 67,268,577 (GRCm39) V1435A possibly damaging Het
Cyp2j6 A T 4: 96,406,394 (GRCm39) I459N probably damaging Het
Cyth1 T C 11: 118,073,132 (GRCm39) E242G probably damaging Het
Dclk3 T G 9: 111,296,738 (GRCm39) L94R possibly damaging Het
Dsg3 T C 18: 20,673,191 (GRCm39) V954A probably damaging Het
Dync2h1 T A 9: 7,111,487 (GRCm39) D309V probably damaging Het
Efhd2 A G 4: 141,601,878 (GRCm39) F101L probably benign Het
Fgd5 T A 6: 91,965,216 (GRCm39) M325K possibly damaging Het
Fras1 T C 5: 96,857,936 (GRCm39) S2077P probably benign Het
Frmpd1 A T 4: 45,279,340 (GRCm39) E688D probably benign Het
Hspg2 T C 4: 137,289,512 (GRCm39) V3824A probably benign Het
Kctd16 A G 18: 40,392,204 (GRCm39) E264G probably benign Het
Mapk15 A T 15: 75,867,926 (GRCm39) K153* probably null Het
Miox G A 15: 89,219,784 (GRCm39) V91I probably benign Het
Nfyb G A 10: 82,590,836 (GRCm39) A65V possibly damaging Het
Or52d1 T C 7: 103,755,812 (GRCm39) S109P probably damaging Het
Or5b94 C A 19: 12,652,224 (GRCm39) F218L probably benign Het
Parp9 T C 16: 35,768,711 (GRCm39) I64T probably damaging Het
Pfkfb4 T C 9: 108,827,957 (GRCm39) V43A probably benign Het
Pgap1 A T 1: 54,533,984 (GRCm39) V643E probably damaging Het
Pip5k1b T A 19: 24,356,411 (GRCm39) M176L probably benign Het
Ppfia4 A T 1: 134,251,955 (GRCm39) probably null Het
Prdx2 G A 8: 85,696,880 (GRCm39) G4S probably benign Het
Rin3 A G 12: 102,279,340 (GRCm39) I50V possibly damaging Het
Rtl1 G A 12: 109,561,841 (GRCm39) probably benign Het
Sgsm3 G C 15: 80,893,667 (GRCm39) D434H probably damaging Het
Shank2 T C 7: 143,964,314 (GRCm39) S634P possibly damaging Het
Sik2 A G 9: 50,810,775 (GRCm39) M447T possibly damaging Het
Sla2 A G 2: 156,725,507 (GRCm39) probably null Het
Spata16 T A 3: 26,967,416 (GRCm39) F389I probably damaging Het
Srebf1 G A 11: 60,092,630 (GRCm39) A793V probably benign Het
Tmed11 T A 5: 108,925,278 (GRCm39) D178V probably damaging Het
Traf7 A G 17: 24,732,900 (GRCm39) F110L probably benign Het
Ttn T A 2: 76,555,908 (GRCm39) I30366F probably damaging Het
Ubqlnl C T 7: 103,799,399 (GRCm39) V33M probably damaging Het
Vmn1r194 A G 13: 22,429,217 (GRCm39) Y278C probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r114 A T 17: 23,529,549 (GRCm39) Y184* probably null Het
Vmn2r53 C T 7: 12,315,993 (GRCm39) A609T probably damaging Het
Vps13b A G 15: 35,572,265 (GRCm39) T961A probably benign Het
Xirp2 T A 2: 67,349,622 (GRCm39) N3272K probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp454 T A 11: 50,774,602 (GRCm39) T24S possibly damaging Het
Other mutations in Or4a69
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Or4a69 APN 2 89,313,191 (GRCm39) missense probably benign 0.38
IGL02175:Or4a69 APN 2 89,312,626 (GRCm39) missense possibly damaging 0.96
IGL02625:Or4a69 APN 2 89,313,018 (GRCm39) missense probably damaging 1.00
R0109:Or4a69 UTSW 2 89,313,147 (GRCm39) missense probably benign 0.10
R1468:Or4a69 UTSW 2 89,312,855 (GRCm39) missense possibly damaging 0.94
R1468:Or4a69 UTSW 2 89,312,855 (GRCm39) missense possibly damaging 0.94
R1511:Or4a69 UTSW 2 89,312,592 (GRCm39) missense probably null 0.01
R1527:Or4a69 UTSW 2 89,312,876 (GRCm39) missense probably benign 0.10
R1528:Or4a69 UTSW 2 89,312,897 (GRCm39) missense probably damaging 1.00
R1585:Or4a69 UTSW 2 89,313,315 (GRCm39) missense probably benign 0.00
R2483:Or4a69 UTSW 2 89,313,471 (GRCm39) nonsense probably null
R2972:Or4a69 UTSW 2 89,313,120 (GRCm39) missense possibly damaging 0.52
R3692:Or4a69 UTSW 2 89,313,240 (GRCm39) missense probably benign
R4592:Or4a69 UTSW 2 89,313,100 (GRCm39) missense probably damaging 1.00
R4883:Or4a69 UTSW 2 89,312,652 (GRCm39) missense probably benign
R7104:Or4a69 UTSW 2 89,313,458 (GRCm39) missense possibly damaging 0.70
R7347:Or4a69 UTSW 2 89,312,799 (GRCm39) missense probably benign 0.05
R9487:Or4a69 UTSW 2 89,312,756 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCTCCACCATTGGCAACCAC -3'
(R):5'- ACAGTCATAGCCAGTCCCTCCTTAG -3'

Sequencing Primer
(F):5'- GTCCTAATAATGGGTACATGTCACAG -3'
(R):5'- AGGGACTCCAATGTACTTCTTC -3'
Posted On 2013-08-06