Incidental Mutation 'IGL00163:Olfr50'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr50
Ensembl Gene ENSMUSG00000111021
Gene Nameolfactory receptor 50
SynonymsGA_x6K02T2NLDC-33487752-33488690, ID3, MOR136-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL00163
Quality Score
Chromosomal Location36790538-36797392 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36794000 bp
Amino Acid Change Isoleucine to Valine at position 255 (I255V)
Ref Sequence ENSEMBL: ENSMUSP00000149484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072114] [ENSMUST00000112950] [ENSMUST00000213498] [ENSMUST00000214909] [ENSMUST00000215199] [ENSMUST00000216753] [ENSMUST00000217041]
Predicted Effect probably benign
Transcript: ENSMUST00000072114
AA Change: I255V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000071985
Gene: ENSMUSG00000068950
AA Change: I255V

Pfam:7tm_4 31 308 3.3e-57 PFAM
Pfam:7TM_GPCR_Srsx 35 305 3.8e-8 PFAM
Pfam:7tm_1 41 290 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112950
AA Change: I255V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: I255V

Pfam:7TM_GPCR_Srsx 36 306 3e-6 PFAM
Pfam:7tm_1 42 291 3.5e-34 PFAM
Pfam:7tm_4 140 284 3.9e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213498
Predicted Effect probably benign
Transcript: ENSMUST00000214909
Predicted Effect probably benign
Transcript: ENSMUST00000215199
Predicted Effect probably benign
Transcript: ENSMUST00000216753
AA Change: I255V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000217041
AA Change: I255V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik G A 4: 88,868,073 Q103* probably null Het
4933406P04Rik C A 10: 20,311,224 probably benign Het
Adgrg6 T C 10: 14,467,450 E251G probably damaging Het
AF529169 A T 9: 89,591,097 probably benign Het
Ago2 T C 15: 73,126,453 H292R probably benign Het
Akr1c6 T C 13: 4,448,978 probably benign Het
Arhgap24 T A 5: 102,860,399 M62K possibly damaging Het
Bicd1 A G 6: 149,550,390 H834R possibly damaging Het
Ccdc77 G T 6: 120,329,084 probably benign Het
Cdadc1 G T 14: 59,581,369 H337N probably damaging Het
Cep192 A G 18: 67,880,800 T2424A possibly damaging Het
Cep78 T C 19: 15,969,140 T443A probably benign Het
Chrna1 T A 2: 73,570,642 E181D probably benign Het
Dmxl1 G A 18: 49,851,467 D177N probably damaging Het
Eif3h T A 15: 51,786,799 I330F probably damaging Het
Fam184b T C 5: 45,539,749 E691G probably benign Het
Fastkd1 T A 2: 69,707,549 S230C probably benign Het
Gipc2 T C 3: 152,137,578 I141V probably damaging Het
Hsd17b2 A T 8: 117,758,671 D291V probably damaging Het
Itpr2 G A 6: 146,390,836 A420V possibly damaging Het
Jag1 C T 2: 137,086,032 probably null Het
Mmp1b T A 9: 7,387,946 Y16F probably benign Het
Muc4 G T 16: 32,754,090 R1322M probably benign Het
Myo9b T C 8: 71,348,735 I1179T probably benign Het
Nos1ap A G 1: 170,514,606 probably benign Het
Npc1l1 A T 11: 6,224,199 V702E probably damaging Het
Olfr1183 A T 2: 88,461,352 Y4F probably benign Het
Olfr1303 A C 2: 111,813,781 probably benign Het
Olfr1380 A C 11: 49,563,920 probably benign Het
Olfr270 G A 4: 52,971,058 V146M possibly damaging Het
Olfr699 T A 7: 106,790,589 R137S probably benign Het
Osmr A T 15: 6,844,445 L157* probably null Het
Pdzph1 T C 17: 58,974,796 T164A possibly damaging Het
Ptn T C 6: 36,743,489 K43E probably benign Het
Rbm45 T C 2: 76,378,707 V340A probably damaging Het
Rnf5 C T 17: 34,602,109 G83E probably damaging Het
Scin G T 12: 40,076,972 Q459K probably benign Het
Serpina5 C A 12: 104,105,220 A362D probably damaging Het
Tcrg-V3 G A 13: 19,243,211 S88N probably benign Het
Tex47 T A 5: 7,305,468 Y216* probably null Het
Tll1 A T 8: 64,016,136 H984Q probably benign Het
Tmem259 A G 10: 79,979,734 V81A probably benign Het
Tns3 A T 11: 8,451,066 S1077R probably benign Het
Ttc17 A G 2: 94,323,083 probably benign Het
Tubgcp2 T C 7: 140,031,022 T149A possibly damaging Het
Ulk1 G A 5: 110,787,872 A25V probably damaging Het
Vps13d T C 4: 145,168,540 E378G probably damaging Het
Vsig10 A G 5: 117,338,414 N311S probably benign Het
Zfp511 T C 7: 140,037,516 Y144H possibly damaging Het
Other mutations in Olfr50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02316:Olfr50 APN 2 36793620 missense probably damaging 0.98
IGL02330:Olfr50 APN 2 36793895 missense probably benign 0.00
IGL03144:Olfr50 APN 2 36794081 missense probably benign 0.44
R0092:Olfr50 UTSW 2 36793496 missense probably benign 0.06
R0113:Olfr50 UTSW 2 36793994 missense probably damaging 0.98
R0113:Olfr50 UTSW 2 36793995 missense probably damaging 0.99
R0604:Olfr50 UTSW 2 36794107 nonsense probably null
R0932:Olfr50 UTSW 2 36793891 nonsense probably null
R1191:Olfr50 UTSW 2 36793338 missense probably damaging 0.97
R1238:Olfr50 UTSW 2 36793589 missense probably damaging 1.00
R1525:Olfr50 UTSW 2 36794143 missense probably null 0.01
R3103:Olfr50 UTSW 2 36793562 missense possibly damaging 0.80
R3955:Olfr50 UTSW 2 36793553 missense probably benign 0.34
R4573:Olfr50 UTSW 2 36793479 missense probably damaging 1.00
R5256:Olfr50 UTSW 2 36793673 missense probably benign
R5650:Olfr50 UTSW 2 36793265 missense probably benign 0.36
R6130:Olfr50 UTSW 2 36794043 missense probably benign 0.01
R6175:Olfr50 UTSW 2 36793968 missense probably damaging 1.00
R6320:Olfr50 UTSW 2 36793573 missense possibly damaging 0.90
R6481:Olfr50 UTSW 2 36793777 missense possibly damaging 0.63
Posted On2011-07-12