Incidental Mutation 'IGL00969:Olfr1442'
ID29538
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 #IGL00969
Quality Score
Status
Chromosome19
Chromosomal Location12670439-12677277 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12674241 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 12 (L12P)
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: L12P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050632
Gene: ENSMUSG00000044441
AA Change: L12P

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: L12P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208494
AA Change: L12P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208657
AA Change: L12P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 G A 5: 4,001,550 S1439N probably benign Het
Bcl9l A G 9: 44,508,242 T1069A possibly damaging Het
Btaf1 T G 19: 37,011,252 probably benign Het
Cdc40 A T 10: 40,843,128 V335E probably damaging Het
Cenpj A T 14: 56,564,963 N48K possibly damaging Het
Cfh A G 1: 140,088,682 W635R probably damaging Het
Clca1 A G 3: 145,008,958 S633P possibly damaging Het
Cnot6 T C 11: 49,685,120 M176V probably benign Het
Cryz G T 3: 154,618,526 E51* probably null Het
Dcc A G 18: 71,456,883 Y681H probably benign Het
Dmxl1 T A 18: 49,912,725 N2412K probably benign Het
Gpr137b C T 13: 13,365,065 W258* probably null Het
Hnf1b A G 11: 83,882,700 T242A probably benign Het
Hsd11b1 A T 1: 193,223,644 C213* probably null Het
Igsf11 A T 16: 39,008,917 T117S probably damaging Het
Inpp5b T C 4: 124,783,994 Y416H probably damaging Het
Kcnq3 C A 15: 66,004,726 V523F probably damaging Het
Krtap9-5 T C 11: 99,948,465 probably benign Het
Lrig3 T C 10: 125,997,115 L286S probably damaging Het
Myo18b C T 5: 112,875,007 probably benign Het
Nupl1 A G 14: 60,228,916 probably benign Het
Olfr1008 G A 2: 85,689,663 C78Y probably benign Het
Olfr186 A G 16: 59,027,631 I92T possibly damaging Het
Olfr623 T A 7: 103,661,067 Y61F probably damaging Het
Pyroxd2 T C 19: 42,731,438 D443G possibly damaging Het
Ttc28 A G 5: 111,225,740 D1014G probably benign Het
Tubgcp5 T A 7: 55,806,595 S312T possibly damaging Het
Uckl1 T C 2: 181,569,617 D473G probably benign Het
Vmn2r76 G T 7: 86,228,717 H491N probably benign Het
Wwc2 G A 8: 47,846,158 R1039W unknown Het
Zc3h14 T A 12: 98,758,843 S255T probably benign Het
Zfp369 T C 13: 65,297,260 V739A probably benign Het
Zfyve21 A G 12: 111,824,934 probably benign Het
Znhit6 A G 3: 145,594,596 probably benign Het
Other mutations in Olfr1442
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Olfr1442 APN 19 12674560 nonsense probably null
IGL01788:Olfr1442 APN 19 12675078 missense probably damaging 0.97
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
R7710:Olfr1442 UTSW 19 12674976 missense probably damaging 1.00
Z1176:Olfr1442 UTSW 19 12674310 missense probably benign
Posted On2013-04-17