Incidental Mutation 'IGL01788:Olfr1442'
ID155115
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1442
Ensembl Gene ENSMUSG00000044441
Gene Nameolfactory receptor 1442
SynonymsGA_x6K02T2RE5P-3000589-3001527, MOR202-9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL01788
Quality Score
Status
Chromosome19
Chromosomal Location12670439-12677277 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 12675078 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Lysine at position 291 (R291K)
Ref Sequence ENSEMBL: ENSMUSP00000146650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049724] [ENSMUST00000057924] [ENSMUST00000207341] [ENSMUST00000208494] [ENSMUST00000208657] [ENSMUST00000213486] [ENSMUST00000215134]
Predicted Effect probably benign
Transcript: ENSMUST00000049724
SMART Domains Protein: ENSMUSP00000059886
Gene: ENSMUSG00000045030

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.4e-50 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.5e-6 PFAM
Pfam:7tm_1 39 288 8.6e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000057924
AA Change: R291K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050632
Gene: ENSMUSG00000044441
AA Change: R291K

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 7.9e-49 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.6e-6 PFAM
Pfam:7tm_1 39 288 1.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207341
AA Change: R291K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000208494
AA Change: R291K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000208657
AA Change: R291K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000213486
Predicted Effect probably benign
Transcript: ENSMUST00000215134
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T G 11: 51,091,715 noncoding transcript Het
Acp6 A G 3: 97,165,882 T80A probably damaging Het
Adamtsl5 T C 10: 80,344,923 T102A probably benign Het
Adcy6 C A 15: 98,596,519 E812* probably null Het
Apol6 G A 15: 77,051,016 V162I possibly damaging Het
Atp6v1h T A 1: 5,149,983 M396K possibly damaging Het
B3gnt8 A G 7: 25,629,188 T348A probably damaging Het
Cgnl1 A G 9: 71,655,390 V869A probably benign Het
Dcaf5 A T 12: 80,348,324 I357N probably damaging Het
Dennd4a A G 9: 64,842,621 I165V probably benign Het
Dlgap2 T A 8: 14,843,631 I982K probably benign Het
Dopey1 A T 9: 86,531,719 H1891L probably benign Het
Fhad1 A C 4: 141,932,802 S65R probably benign Het
Fn1 A G 1: 71,613,837 I1331T probably damaging Het
Fto A T 8: 91,409,731 Y211F probably benign Het
Gm3278 A C 14: 4,893,332 R60S probably benign Het
Ifna9 A G 4: 88,591,860 S176P probably damaging Het
Klk1 T C 7: 44,228,983 I189T probably benign Het
Mcph1 G A 8: 18,632,403 G519R probably damaging Het
Mcph1 G A 8: 18,632,404 G519E probably damaging Het
N4bp1 A T 8: 86,860,996 V438E probably benign Het
Ncapg T A 5: 45,671,081 V58E probably damaging Het
Nid2 T A 14: 19,807,979 S1054T probably damaging Het
Nlrp4a A T 7: 26,454,067 Y681F probably benign Het
Olfr1308 T C 2: 111,961,007 D22G probably benign Het
Olfr603 C A 7: 103,383,563 M146I probably benign Het
Olfr726 A G 14: 50,084,502 Y60H probably damaging Het
Papln A T 12: 83,775,462 T364S probably benign Het
Pcdh18 C A 3: 49,755,922 E315* probably null Het
Pmel G A 10: 128,717,832 R445Q probably damaging Het
Ppp1r12b C T 1: 134,893,507 V182I possibly damaging Het
Ptprn2 A G 12: 116,900,987 T541A probably damaging Het
Rbl1 A T 2: 157,163,656 N813K probably benign Het
Sash1 C A 10: 8,733,646 R713L probably benign Het
Slc13a1 T G 6: 24,134,372 T171P probably damaging Het
Slc18b1 G T 10: 23,826,001 E407D probably damaging Het
Slc2a6 G A 2: 27,024,215 Q297* probably null Het
Vmn1r209 T C 13: 22,805,662 H286R probably damaging Het
Vmn1r28 C A 6: 58,265,537 H122N probably benign Het
Wfs1 A G 5: 36,968,636 Y304H probably benign Het
Zfp512b A G 2: 181,588,763 S445P possibly damaging Het
Other mutations in Olfr1442
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Olfr1442 APN 19 12674560 nonsense probably null
IGL00969:Olfr1442 APN 19 12674241 missense probably damaging 1.00
IGL02081:Olfr1442 APN 19 12674816 missense probably benign
IGL02335:Olfr1442 APN 19 12674238 missense probably damaging 0.97
IGL02383:Olfr1442 APN 19 12674535 missense probably benign 0.01
IGL02389:Olfr1442 APN 19 12674535 missense probably benign 0.00
IGL02484:Olfr1442 APN 19 12674859 missense possibly damaging 0.56
IGL02682:Olfr1442 APN 19 12674669 missense probably damaging 0.98
IGL03136:Olfr1442 APN 19 12674967 missense probably damaging 0.99
R0109:Olfr1442 UTSW 19 12674860 missense probably benign 0.02
R0109:Olfr1442 UTSW 19 12674860 missense probably benign 0.02
R0112:Olfr1442 UTSW 19 12674757 missense probably benign
R4005:Olfr1442 UTSW 19 12674846 missense probably benign 0.05
R4346:Olfr1442 UTSW 19 12674228 missense probably benign 0.03
R4611:Olfr1442 UTSW 19 12674954 missense probably damaging 1.00
R5858:Olfr1442 UTSW 19 12674379 missense probably damaging 1.00
R5944:Olfr1442 UTSW 19 12674919 missense probably damaging 1.00
R6406:Olfr1442 UTSW 19 12674820 missense probably benign 0.21
R6923:Olfr1442 UTSW 19 12675045 missense possibly damaging 0.94
Posted On2014-02-04