Incidental Mutation 'R9085:Or4a39'
ID 690503
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 068904-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R9085 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89236474-89237421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89236641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 261 (S261P)
Ref Sequence ENSEMBL: ENSMUSP00000150447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099781] [ENSMUST00000217226] [ENSMUST00000217237]
AlphaFold Q8VG59
Predicted Effect probably damaging
Transcript: ENSMUST00000099781
AA Change: S261P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097369
Gene: ENSMUSG00000111517
AA Change: S261P

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 damaging
Transcript: ENSMUST00000217226
AA Change: S261P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217237
AA Change: S261P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l G A 10: 42,194,637 (GRCm39) T385M probably damaging Het
Arhgap29 T A 3: 121,808,249 (GRCm39) D1142E probably benign Het
Ash1l C T 3: 88,889,294 (GRCm39) A391V probably benign Het
Ash1l T C 3: 88,891,529 (GRCm39) V1136A probably benign Het
Cacna1c G T 6: 118,615,466 (GRCm39) Y1308* probably null Het
Cacna1g A T 11: 94,334,046 (GRCm39) V865E probably benign Het
Cbx2 C T 11: 118,919,914 (GRCm39) T493M possibly damaging Het
Cyp2a12 T C 7: 26,735,944 (GRCm39) F451S probably damaging Het
Dlec1 G T 9: 118,953,252 (GRCm39) C572F probably damaging Het
Dmtn A G 14: 70,853,534 (GRCm39) S92P probably damaging Het
Dnah10 T C 5: 124,839,237 (GRCm39) L1225P Het
Dnah2 G T 11: 69,320,224 (GRCm39) H3954Q possibly damaging Het
Dntt C T 19: 41,044,220 (GRCm39) R462C probably damaging Het
Emc1 T C 4: 139,094,474 (GRCm39) Y676H possibly damaging Het
Epb41l4b A T 4: 57,041,064 (GRCm39) probably null Het
Fer T A 17: 64,228,767 (GRCm39) M214K probably damaging Het
Fgf17 A G 14: 70,874,436 (GRCm39) F129L probably damaging Het
Foxn3 C T 12: 99,355,095 (GRCm39) S23N probably damaging Het
Frmd4b A C 6: 97,269,334 (GRCm39) S993A probably benign Het
Gdap1l1 T C 2: 163,280,508 (GRCm39) W15R probably damaging Het
Golga5 T A 12: 102,458,476 (GRCm39) S640T probably benign Het
Gucy2g A T 19: 55,221,597 (GRCm39) Y301* probably null Het
Il31ra T C 13: 112,660,628 (GRCm39) S654G Het
Lmnb2 T C 10: 80,740,091 (GRCm39) D442G probably benign Het
Lpin1 T C 12: 16,623,715 (GRCm39) Y223C Het
Lrrc37 A G 11: 103,507,565 (GRCm39) Y1468H unknown Het
Mast3 A T 8: 71,249,361 (GRCm39) W53R unknown Het
Mettl2 T C 11: 105,021,274 (GRCm39) V180A possibly damaging Het
Mospd3 C T 5: 137,598,870 (GRCm39) probably benign Het
Mrpl18 A T 17: 13,134,582 (GRCm39) V61E probably damaging Het
Mrtfb A C 16: 13,230,092 (GRCm39) T926P probably damaging Het
Muc2 T A 7: 141,287,058 (GRCm39) C154S probably damaging Het
Mypn T G 10: 62,983,894 (GRCm39) probably null Het
Nelfb C T 2: 25,094,292 (GRCm39) C357Y probably damaging Het
Nes T G 3: 87,887,069 (GRCm39) V1776G possibly damaging Het
Nin T A 12: 70,076,786 (GRCm39) R1797* probably null Het
Nxpe2 A T 9: 48,250,872 (GRCm39) I25K probably benign Het
Or5ak24 T A 2: 85,260,619 (GRCm39) T185S probably benign Het
Osbpl1a T C 18: 13,062,093 (GRCm39) H60R probably damaging Het
Papss1 C A 3: 131,324,817 (GRCm39) H425N probably damaging Het
Pde4dip T C 3: 97,601,385 (GRCm39) N2344S probably benign Het
Pde6c G A 19: 38,166,569 (GRCm39) V704I probably benign Het
Pknox1 C T 17: 31,822,229 (GRCm39) T332M possibly damaging Het
Pla2r1 A T 2: 60,255,791 (GRCm39) V1251D probably damaging Het
Plch2 T C 4: 155,084,976 (GRCm39) D321G probably damaging Het
Plec A G 15: 76,057,275 (GRCm39) S4221P probably damaging Het
Psg23 T G 7: 18,348,660 (GRCm39) N49T possibly damaging Het
Qrfpr A G 3: 36,276,099 (GRCm39) F97S probably damaging Het
Rab3ip G A 10: 116,775,310 (GRCm39) S16L probably damaging Het
Rbm43 A G 2: 51,824,930 (GRCm39) probably benign Het
Rpgrip1l T C 8: 92,014,303 (GRCm39) N314D possibly damaging Het
Rpn2 C T 2: 157,125,567 (GRCm39) T26I possibly damaging Het
Rsph6a A T 7: 18,799,250 (GRCm39) N294Y probably damaging Het
Serpinb9h T C 13: 33,581,781 (GRCm39) Y113H probably damaging Het
Sesn1 C T 10: 41,686,835 (GRCm39) probably benign Het
Sh3d19 T C 3: 86,033,992 (GRCm39) Y782H probably damaging Het
Sh3rf1 C A 8: 61,802,493 (GRCm39) D275E probably benign Het
Siglecg T C 7: 43,061,049 (GRCm39) V374A probably benign Het
Slc6a11 A T 6: 114,202,808 (GRCm39) I301F probably damaging Het
Spock1 A T 13: 57,570,956 (GRCm39) F348I unknown Het
Sptlc2 T C 12: 87,382,839 (GRCm39) K422E probably benign Het
Tas2r115 A T 6: 132,714,327 (GRCm39) V208E probably benign Het
Tmem132a G T 19: 10,843,835 (GRCm39) Q174K probably damaging Het
Tmtc1 A T 6: 148,237,749 (GRCm39) Y338* probably null Het
Tnfaip1 G T 11: 78,420,965 (GRCm39) L32I probably damaging Het
Tox2 T C 2: 163,067,481 (GRCm39) C67R probably benign Het
Ube2o C T 11: 116,436,209 (GRCm39) G311S probably damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vav3 C T 3: 109,413,722 (GRCm39) A220V probably benign Het
Xaf1 A G 11: 72,197,419 (GRCm39) K132E probably benign Het
Zeb1 T C 18: 5,766,716 (GRCm39) L409S probably damaging Het
Zfp51 T A 17: 21,684,660 (GRCm39) L425H 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
R8034:Or4a39 UTSW 2 89,237,081 (GRCm39) missense probably benign 0.44
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
R9486:Or4a39 UTSW 2 89,236,959 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- AACAGAAGTCCTCAGTGTGG -3'
(R):5'- TGCAGTGACACTTACTTCATTGG -3'

Sequencing Primer
(F):5'- GGGAGTGCACTCTTACTCTGC -3'
(R):5'- TTGCGAATGGTGGAGCAATC -3'
Posted On 2021-12-30