Incidental Mutation 'IGL02316: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 #IGL02316
Quality Score
Chromosomal Location36790538-36797392 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36793620 bp
Amino Acid Change Histidine to Leucine at position 128 (H128L)
Ref Sequence ENSEMBL: ENSMUSP00000149484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072114] [ENSMUST00000112950] [ENSMUST00000213498] [ENSMUST00000214909] [ENSMUST00000215199] [ENSMUST00000216753] [ENSMUST00000217041]
Predicted Effect probably damaging
Transcript: ENSMUST00000072114
AA Change: H128L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000071985
Gene: ENSMUSG00000068950
AA Change: H128L

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 damaging
Transcript: ENSMUST00000112950
AA Change: H128L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: H128L

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 damaging
Transcript: ENSMUST00000216753
AA Change: H128L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217041
AA Change: H128L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c13 G T 13: 4,203,459 probably benign Het
Arhgap26 C T 18: 38,642,546 noncoding transcript Het
Atp5b T C 10: 128,084,309 V108A probably benign Het
B230307C23Rik G A 16: 98,008,650 V9M probably damaging Het
Ccdc85c T A 12: 108,211,570 H321L probably damaging Het
Diaph3 A T 14: 86,986,115 M321K possibly damaging Het
Dicer1 G A 12: 104,702,553 A1290V probably damaging Het
Dnah6 G A 6: 73,168,911 T839M probably benign Het
Eif3a G A 19: 60,771,638 probably benign Het
Eml1 T C 12: 108,534,759 probably benign Het
Exoc4 A G 6: 33,910,584 Q769R probably damaging Het
Fam184a T G 10: 53,638,239 T426P probably damaging Het
Fsip2 C A 2: 82,978,793 H1819N probably benign Het
Gm6686 T A 17: 15,566,238 probably benign Het
Hadha T C 5: 30,126,567 S464G probably benign Het
Ighv5-17 A T 12: 113,859,155 C115* probably null Het
Jmjd6 T C 11: 116,843,102 Y31C possibly damaging Het
Klrb1-ps1 G A 6: 129,116,569 noncoding transcript Het
Mgat1 T C 11: 49,261,358 Y223H probably damaging Het
Muc4 T C 16: 32,750,850 S243P possibly damaging Het
Numa1 T C 7: 102,001,370 L69P probably damaging Het
Olfr1198 A G 2: 88,746,843 F15S probably damaging Het
Olfr350 C A 2: 36,850,282 P79T probably damaging Het
Olfr745 T C 14: 50,642,287 I2T probably benign Het
Pde1c A T 6: 56,151,351 D332E possibly damaging Het
Pitpnm1 A G 19: 4,112,835 I1143V probably benign Het
Rsl1 T A 13: 67,177,056 probably null Het
Scg2 A C 1: 79,435,681 L442V probably damaging Het
Sez6l A T 5: 112,462,962 V530E probably damaging Het
Ubr4 T C 4: 139,473,178 I4655T possibly damaging Het
Zcwpw1 T C 5: 137,810,010 probably benign Het
Other mutations in Olfr50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Olfr50 APN 2 36794000 missense probably benign 0.05
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 On2015-04-16