Incidental Mutation 'IGL01783:Olfr1122'
ID154203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1122
Ensembl Gene ENSMUSG00000047594
Gene Nameolfactory receptor 1122
SynonymsGA_x6K02T2Q125-48880078-48881058, MOR264-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #IGL01783
Quality Score
Status
Chromosome2
Chromosomal Location87385849-87391930 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 87387838 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 44 (L44F)
Ref Sequence ENSEMBL: ENSMUSP00000149403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056435] [ENSMUST00000215371]
Predicted Effect probably benign
Transcript: ENSMUST00000056435
AA Change: L44F

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000052190
Gene: ENSMUSG00000047594
AA Change: L44F

DomainStartEndE-ValueType
Pfam:7tm_4 43 319 6.3e-51 PFAM
Pfam:7tm_1 53 302 5.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215371
AA Change: L44F

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 9,987,900 Y166H possibly damaging Het
Abi3bp G A 16: 56,532,969 probably null Het
Actrt3 T C 3: 30,598,475 T157A probably benign Het
Adam26b T C 8: 43,521,761 K68R probably benign Het
Adgrg7 A G 16: 56,747,919 probably null Het
Ano6 T C 15: 95,962,262 I755T possibly damaging Het
Basp1 T C 15: 25,364,867 N15D unknown Het
Bod1l T C 5: 41,808,712 N2670S probably benign Het
Btbd3 T A 2: 138,283,736 I280N probably damaging Het
Cdh16 T A 8: 104,617,856 Y17F probably damaging Het
Clmp G T 9: 40,782,407 G307W possibly damaging Het
Clrn2 C A 5: 45,460,161 Q125K probably benign Het
Ctnna3 C T 10: 63,820,469 A276V possibly damaging Het
Dram2 A T 3: 106,573,656 T172S possibly damaging Het
Dync2h1 G A 9: 7,118,822 probably benign Het
Ezr T C 17: 6,742,489 probably benign Het
Gbe1 T C 16: 70,401,855 probably null Het
Gbe1 T A 16: 70,478,369 D352E probably damaging Het
Gpr18 T A 14: 121,912,377 M79L probably benign Het
Gss T C 2: 155,571,559 Y196C probably damaging Het
Gtpbp1 T C 15: 79,716,197 S444P probably damaging Het
Hecw1 C T 13: 14,278,293 R712K probably damaging Het
Helz2 T G 2: 181,232,881 D1940A probably damaging Het
Hmcn1 A T 1: 150,615,300 V4166E possibly damaging Het
Klkb1 T C 8: 45,276,391 Y297C probably damaging Het
Krt75 T A 15: 101,564,929 I537F probably benign Het
Lrp1b T A 2: 41,312,572 T1176S probably damaging Het
Nid2 T C 14: 19,768,677 L413P probably benign Het
Olfr1086 A G 2: 86,677,081 V84A probably benign Het
Olfr1206 T C 2: 88,864,842 L79P probably damaging Het
Piwil1 A G 5: 128,743,826 N272D probably benign Het
Ppfia3 T C 7: 45,360,057 probably null Het
Prkg1 A G 19: 30,624,689 V389A probably damaging Het
Sema3a C A 5: 13,561,800 S344R probably damaging Het
Serpina3j T C 12: 104,318,491 L309P probably damaging Het
Slc15a1 A G 14: 121,471,276 probably null Het
Sp8 G T 12: 118,849,024 A205S probably benign Het
Speer4a T A 5: 26,035,047 Q235L possibly damaging Het
St6gal1 A G 16: 23,321,555 T159A probably benign Het
Tbrg1 G T 9: 37,654,300 P119T possibly damaging Het
Tmem59l T C 8: 70,487,224 T32A probably damaging Het
Trmt13 G A 3: 116,582,912 R277* probably null Het
Zfp316 A G 5: 143,262,876 F205S unknown Het
Zfp418 G T 7: 7,181,449 W137L possibly damaging Het
Zp3r A T 1: 130,598,866 V200D possibly damaging Het
Other mutations in Olfr1122
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Olfr1122 APN 2 87387843 missense possibly damaging 0.91
IGL02396:Olfr1122 APN 2 87387705 utr 5 prime probably benign
IGL03338:Olfr1122 APN 2 87388126 missense probably benign 0.05
IGL03373:Olfr1122 APN 2 87388233 missense probably damaging 1.00
R0594:Olfr1122 UTSW 2 87387954 missense probably damaging 1.00
R1245:Olfr1122 UTSW 2 87388209 missense probably benign 0.00
R1376:Olfr1122 UTSW 2 87387818 missense probably benign 0.00
R1376:Olfr1122 UTSW 2 87387818 missense probably benign 0.00
R1471:Olfr1122 UTSW 2 87388518 missense probably damaging 1.00
R1681:Olfr1122 UTSW 2 87388620 missense possibly damaging 0.95
R1995:Olfr1122 UTSW 2 87387831 missense probably damaging 0.97
R2246:Olfr1122 UTSW 2 87387851 missense probably benign 0.00
R2341:Olfr1122 UTSW 2 87387740 missense probably benign
R4008:Olfr1122 UTSW 2 87388580 missense possibly damaging 0.67
R4009:Olfr1122 UTSW 2 87388580 missense possibly damaging 0.67
R4011:Olfr1122 UTSW 2 87388580 missense possibly damaging 0.67
R4119:Olfr1122 UTSW 2 87387843 missense possibly damaging 0.91
R4547:Olfr1122 UTSW 2 87388160 missense probably benign 0.07
R4665:Olfr1122 UTSW 2 87387876 missense probably damaging 1.00
R4666:Olfr1122 UTSW 2 87387876 missense probably damaging 1.00
R4801:Olfr1122 UTSW 2 87388209 missense probably benign 0.00
R4802:Olfr1122 UTSW 2 87388209 missense probably benign 0.00
R5049:Olfr1122 UTSW 2 87388658 missense probably benign 0.00
R5070:Olfr1122 UTSW 2 87388163 missense probably damaging 1.00
Posted On2014-02-04