Incidental Mutation 'IGL03221:Olfr1202'
ID413638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1202
Ensembl Gene ENSMUSG00000064084
Gene Nameolfactory receptor 1202
SynonymsMOR232-7, GA_x6K02T2Q125-50290367-50291296
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL03221
Quality Score
Status
Chromosome2
Chromosomal Location88814496-88820711 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88817437 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 89 (S89P)
Ref Sequence ENSEMBL: ENSMUSP00000150743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072057] [ENSMUST00000214703] [ENSMUST00000217059]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072057
AA Change: S89P

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000071935
Gene: ENSMUSG00000064084
AA Change: S89P

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 6.8e-47 PFAM
Pfam:7tm_1 39 285 1.2e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214703
AA Change: S89P

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217059
AA Change: S89P

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 C T 6: 113,760,859 probably benign Het
BC051665 T A 13: 60,784,428 K116* probably null Het
Birc6 A T 17: 74,627,007 T2538S probably benign Het
Btn2a2 A G 13: 23,478,449 S435P probably damaging Het
Efhb A G 17: 53,398,986 L841P probably damaging Het
Etv4 C T 11: 101,774,162 R155K probably damaging Het
Fam126b C A 1: 58,540,186 V231L probably benign Het
Fnbp4 T A 2: 90,777,718 M928K possibly damaging Het
Grin2c A G 11: 115,254,044 probably benign Het
Grip1 A T 10: 119,986,394 M342L probably benign Het
H60c T A 10: 3,259,799 K163* probably null Het
Lilr4b A G 10: 51,481,428 probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mast4 A G 13: 102,754,256 V838A possibly damaging Het
Mypn C A 10: 63,131,123 D925Y probably damaging Het
Nol6 T C 4: 41,124,166 D27G probably benign Het
Olfr1447 G T 19: 12,901,541 P80T probably damaging Het
Olfr916 A T 9: 38,658,365 V9E probably damaging Het
Pik3c2g A G 6: 139,772,407 probably null Het
Pik3c3 G T 18: 30,302,931 M394I probably benign Het
Rfx7 C T 9: 72,618,806 R1093C probably damaging Het
Scin A G 12: 40,076,974 V458A probably benign Het
Slc34a1 T C 13: 55,400,778 V39A probably benign Het
Slc6a4 A G 11: 77,027,105 M558V probably benign Het
Smpx T C X: 157,720,998 V65A probably damaging Het
Tmem200a A T 10: 25,994,024 F116I possibly damaging Het
Tnfrsf19 A T 14: 61,024,778 V12E probably benign Het
Trpc1 C T 9: 95,706,900 R757H probably damaging Het
Ttc38 T A 15: 85,834,541 S51T probably benign Het
Wee1 G A 7: 110,126,817 C378Y probably damaging Het
Other mutations in Olfr1202
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0105:Olfr1202 UTSW 2 88817909 missense probably damaging 1.00
R0699:Olfr1202 UTSW 2 88817224 missense probably damaging 1.00
R0709:Olfr1202 UTSW 2 88817882 missense probably benign 0.42
R1177:Olfr1202 UTSW 2 88817360 missense probably benign 0.06
R1436:Olfr1202 UTSW 2 88817992 missense possibly damaging 0.48
R1827:Olfr1202 UTSW 2 88818058 missense probably benign 0.04
R1828:Olfr1202 UTSW 2 88818058 missense probably benign 0.04
R1872:Olfr1202 UTSW 2 88817936 missense probably benign 0.02
R1878:Olfr1202 UTSW 2 88817461 missense probably benign 0.00
R4903:Olfr1202 UTSW 2 88817998 missense probably benign 0.14
R5035:Olfr1202 UTSW 2 88818099 missense probably benign 0.01
R6279:Olfr1202 UTSW 2 88817375 missense probably damaging 1.00
R7402:Olfr1202 UTSW 2 88817343 missense probably damaging 1.00
Posted On2016-08-02