Incidental Mutation 'R8034:Or4a39'
ID 618115
Institutional Source Beutler Lab
Gene Symbol Or4a39
Ensembl Gene ENSMUSG00000111517
Gene Name olfactory receptor family 4subfamily A member 39
Synonyms GA_x6K02T2Q125-50849945-50848998, Olfr1238, MOR231-11
MMRRC Submission 067471-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R8034 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 89236474-89237421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89237081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 114 (V114A)
Ref Sequence ENSEMBL: ENSMUSP00000150447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099781] [ENSMUST00000217226] [ENSMUST00000217237]
AlphaFold Q8VG59
Predicted Effect probably benign
Transcript: ENSMUST00000099781
AA Change: V114A

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097369
Gene: ENSMUSG00000111517
AA Change: V114A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 7.7e-46 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.1e-5 PFAM
Pfam:7tm_1 39 285 6.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217226
AA Change: V114A

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000217237
AA Change: V114A

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 A G 7: 101,043,980 (GRCm39) T680A probably damaging Het
Asb3 C A 11: 31,031,554 (GRCm39) Y391* probably null Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc80 A G 16: 44,943,238 (GRCm39) I783V probably damaging Het
Ccnf A G 17: 24,450,805 (GRCm39) V391A probably damaging Het
Cd5l C A 3: 87,273,271 (GRCm39) A80E possibly damaging Het
Chmp2b A T 16: 65,343,769 (GRCm39) M96K probably benign Het
Cspg4b A T 13: 113,479,045 (GRCm39) I1530F Het
Dennd4a T C 9: 64,795,850 (GRCm39) S725P probably benign Het
Dnah6 T C 6: 73,106,208 (GRCm39) N1843S probably damaging Het
Dpy19l3 A G 7: 35,449,281 (GRCm39) F41L probably benign Het
Eif3e A T 15: 43,135,703 (GRCm39) M112K probably benign Het
Faim T C 9: 98,874,786 (GRCm39) V111A possibly damaging Het
Fat1 A G 8: 45,404,728 (GRCm39) E493G probably benign Het
Fsip2 A G 2: 82,819,699 (GRCm39) D5144G possibly damaging Het
Fuz T C 7: 44,545,684 (GRCm39) M1T probably null Het
Ggcx T C 6: 72,405,587 (GRCm39) V529A possibly damaging Het
Gm7145 A T 1: 117,913,894 (GRCm39) T259S probably benign Het
Gria2 T G 3: 80,709,006 (GRCm39) T59P probably damaging Het
H2-Q10 A T 17: 35,781,338 (GRCm39) I47F probably damaging Het
Heatr6 A G 11: 83,644,735 (GRCm39) N63D probably benign Het
Ints7 CCGGATCG CCGGATCGGATCG 1: 191,345,180 (GRCm39) probably null Het
Ints7 GATCG GATCGTATCG 1: 191,345,183 (GRCm39) probably null Het
Lcn6 T A 2: 25,566,883 (GRCm39) L19* probably null Het
Lhcgr T C 17: 89,049,784 (GRCm39) T581A probably damaging Het
Map4k1 T C 7: 28,687,573 (GRCm39) I203T probably damaging Het
Mctp1 G C 13: 77,039,670 (GRCm39) L783F probably damaging Het
Mlf1 A T 3: 67,291,921 (GRCm39) M29L probably damaging Het
Npas3 T A 12: 53,687,312 (GRCm39) I159N probably damaging Het
Nup98 T C 7: 101,794,930 (GRCm39) probably null Het
Or4m1 T C 14: 50,558,023 (GRCm39) K90E probably damaging Het
Or51h5 A T 7: 102,577,773 (GRCm39) K313* probably null Het
Or5b110-ps1 A G 19: 13,260,215 (GRCm39) F69S probably damaging Het
Or7d11 A G 9: 19,966,301 (GRCm39) F35L probably benign Het
Or8b41 T C 9: 38,054,973 (GRCm39) Y176H probably damaging Het
Otud3 T C 4: 138,623,111 (GRCm39) S377G probably benign Het
Pclo T A 5: 14,571,214 (GRCm39) S200T probably damaging Het
Pex6 G C 17: 47,033,325 (GRCm39) G616A possibly damaging Het
Pkhd1 T A 1: 20,451,662 (GRCm39) H2211L possibly damaging Het
Sec13 T C 6: 113,712,050 (GRCm39) K95R probably benign Het
Sema3c T C 5: 17,932,480 (GRCm39) V661A probably damaging Het
Sema5a A G 15: 32,574,987 (GRCm39) Y365C probably damaging Het
Sp140l2 T A 1: 85,231,881 (GRCm39) T180S probably benign Het
Sprr2h A T 3: 92,294,120 (GRCm39) E61V unknown Het
Tead3 A C 17: 28,552,203 (GRCm39) V365G probably damaging Het
Trpm7 T A 2: 126,688,119 (GRCm39) N236I probably damaging Het
Ubxn2b A G 4: 6,191,167 (GRCm39) E13G probably benign Het
Zfp639 C A 3: 32,574,215 (GRCm39) A280E probably damaging Het
Other mutations in Or4a39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Or4a39 APN 2 89,236,675 (GRCm39) missense possibly damaging 0.95
IGL01648:Or4a39 APN 2 89,236,535 (GRCm39) missense probably damaging 0.99
IGL03005:Or4a39 APN 2 89,237,315 (GRCm39) missense possibly damaging 0.95
R0450:Or4a39 UTSW 2 89,237,135 (GRCm39) missense probably damaging 0.99
R0469:Or4a39 UTSW 2 89,237,135 (GRCm39) missense probably damaging 0.99
R0510:Or4a39 UTSW 2 89,237,135 (GRCm39) missense probably damaging 0.99
R1983:Or4a39 UTSW 2 89,236,770 (GRCm39) missense probably benign 0.00
R4183:Or4a39 UTSW 2 89,236,935 (GRCm39) missense probably benign
R4737:Or4a39 UTSW 2 89,236,830 (GRCm39) missense probably benign 0.05
R4748:Or4a39 UTSW 2 89,236,599 (GRCm39) missense probably benign 0.02
R4749:Or4a39 UTSW 2 89,236,599 (GRCm39) missense probably benign 0.02
R4969:Or4a39 UTSW 2 89,236,770 (GRCm39) missense probably benign 0.00
R5047:Or4a39 UTSW 2 89,237,057 (GRCm39) missense probably damaging 1.00
R5992:Or4a39 UTSW 2 89,237,223 (GRCm39) missense probably benign 0.02
R6031:Or4a39 UTSW 2 89,237,316 (GRCm39) missense probably damaging 1.00
R6031:Or4a39 UTSW 2 89,237,316 (GRCm39) missense probably damaging 1.00
R6263:Or4a39 UTSW 2 89,237,074 (GRCm39) missense possibly damaging 0.80
R6416:Or4a39 UTSW 2 89,236,866 (GRCm39) missense possibly damaging 0.78
R7352:Or4a39 UTSW 2 89,236,806 (GRCm39) missense probably benign 0.00
R7515:Or4a39 UTSW 2 89,237,250 (GRCm39) missense possibly damaging 0.91
R7796:Or4a39 UTSW 2 89,237,157 (GRCm39) missense possibly damaging 0.73
R7893:Or4a39 UTSW 2 89,237,414 (GRCm39) missense probably benign 0.00
R8399:Or4a39 UTSW 2 89,237,028 (GRCm39) missense probably benign 0.10
R8694:Or4a39 UTSW 2 89,237,378 (GRCm39) missense probably damaging 1.00
R9085:Or4a39 UTSW 2 89,236,641 (GRCm39) missense probably damaging 0.99
R9486:Or4a39 UTSW 2 89,236,959 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- TCAATGACATTGGGTCCACAG -3'
(R):5'- AACCTGCTTATTGTGGCCAC -3'

Sequencing Primer
(F):5'- TGACATTGGGTCCACAGAAAGG -3'
(R):5'- ATTGTGGCCACAGTGATTGCC -3'
Posted On 2020-01-23