Incidental Mutation 'IGL02389:Olfr1442'
ID291666
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: 0.051) question?
Stock #IGL02389
Quality Score
Status
Chromosome19
Chromosomal Location12670439-12677277 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12674535 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 110 (D110V)
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 benign
Transcript: ENSMUST00000057924
AA Change: D110V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000050632
Gene: ENSMUSG00000044441
AA Change: D110V

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 benign
Transcript: ENSMUST00000207341
AA Change: D110V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000208494
AA Change: D110V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000208657
AA Change: D110V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 63,896,483 S11N probably null Het
Aqp9 T C 9: 71,122,906 I200V possibly damaging Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Cntn2 T C 1: 132,525,321 E411G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd3 A G 15: 73,567,056 D1091G probably damaging Het
Dock2 T C 11: 34,698,740 probably benign Het
Dscam T A 16: 96,640,897 I1577F probably benign Het
Egflam A T 15: 7,250,078 N482K probably benign Het
Fam216a T C 5: 122,367,511 T129A probably damaging Het
Fbxo40 T C 16: 36,969,774 M325V probably benign Het
Fbxw8 C T 5: 118,128,955 V148M possibly damaging Het
Fcgbp C T 7: 28,075,171 R57C probably damaging Het
Gnpnat1 A G 14: 45,380,931 probably null Het
Gria2 T C 3: 80,709,422 T408A probably benign Het
H2-T3 A G 17: 36,186,608 M59T probably benign Het
Jakmip1 C T 5: 37,100,843 Q278* probably null Het
Krtap21-1 C T 16: 89,403,424 G110D unknown Het
Myo7a C T 7: 98,106,991 probably null Het
Nlrp9c T A 7: 26,394,207 Q11L probably benign Het
Olfr298 A G 7: 86,489,128 L141P probably damaging Het
Olfr767 A C 10: 129,079,230 I244M probably damaging Het
Olfr790 T A 10: 129,501,070 M62K probably benign Het
Pdzd8 A G 19: 59,301,393 I525T probably benign Het
Pign A T 1: 105,646,781 L280* probably null Het
Pik3r4 T G 9: 105,650,331 I294M possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Prmt3 C T 7: 49,848,758 Q471* probably null Het
Prrc2c A G 1: 162,692,870 F2006L probably damaging Het
Ptger3 C T 3: 157,567,171 R52C probably damaging Het
Rfx2 T C 17: 56,808,325 probably benign Het
Sh3bp4 T C 1: 89,145,148 F573L probably damaging Het
Slc18a2 G T 19: 59,263,301 probably benign Het
Slc26a8 T A 17: 28,638,650 I840F probably benign Het
Slc5a4b A T 10: 76,072,465 Y364* probably null Het
Slitrk1 A G 14: 108,912,322 I319T probably benign Het
Stxbp5l C T 16: 37,208,205 A499T probably benign Het
Tnks2 T A 19: 36,884,103 S951R probably benign Het
Trim30c A G 7: 104,382,174 F478S probably benign Het
Tyro3 C T 2: 119,804,864 probably benign Het
Vmn1r34 A T 6: 66,637,058 L232Q probably damaging Het
Zfp148 T A 16: 33,495,446 C215S probably damaging Het
Zzef1 C T 11: 72,891,217 P1995S probably benign Het
Zzef1 T A 11: 72,899,538 V2106D 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
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
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
Posted On2015-04-16