Incidental Mutation 'IGL01614:Olfr1044'
ID92320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1044
Ensembl Gene ENSMUSG00000075200
Gene Nameolfactory receptor 1044
SynonymsMOR185-4, GA_x6K02T2Q125-47640742-47639798
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL01614
Quality Score
Status
Chromosome2
Chromosomal Location86168589-86177820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86171397 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 140 (I140N)
Ref Sequence ENSEMBL: ENSMUSP00000150199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099906] [ENSMUST00000213886] [ENSMUST00000213949] [ENSMUST00000215171] [ENSMUST00000216028]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099906
AA Change: I140N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097490
Gene: ENSMUSG00000075200
AA Change: I140N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.7e-59 PFAM
Pfam:7tm_1 41 290 2.9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213886
Predicted Effect probably benign
Transcript: ENSMUST00000213949
Predicted Effect possibly damaging
Transcript: ENSMUST00000215171
AA Change: I140N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215739
Predicted Effect probably benign
Transcript: ENSMUST00000216028
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 T A 17: 43,424,471 S143T possibly damaging Het
Arhgap32 G T 9: 32,260,505 S1527I probably damaging Het
Atp8a2 A G 14: 60,044,988 V128A probably damaging Het
Bpi T C 2: 158,271,946 F255L probably damaging Het
Clptm1 A T 7: 19,637,700 D269E probably benign Het
E2f7 T C 10: 110,759,978 V63A probably damaging Het
Eif4e1b T A 13: 54,786,916 I184N probably damaging Het
Fam49a T C 12: 12,361,573 probably null Het
Gal3st1 T A 11: 3,998,996 L401Q probably damaging Het
Gm7808 G A 9: 19,928,146 probably benign Het
Hdac5 G A 11: 102,200,028 T741I probably benign Het
Ipo5 A G 14: 120,935,095 T522A probably benign Het
Lama5 A C 2: 180,180,864 F2832V probably damaging Het
Ltk A C 2: 119,753,487 L230R probably damaging Het
Mettl14 A T 3: 123,373,960 probably benign Het
Myom1 T C 17: 71,126,178 F1507L possibly damaging Het
Nsd3 T A 8: 25,666,079 I554K possibly damaging Het
Olfr107 G A 17: 37,405,638 C30Y probably benign Het
Olfr340 T G 2: 36,452,624 I13S probably benign Het
Olfr644 C T 7: 104,068,369 V221I probably benign Het
Prr14 T A 7: 127,475,133 L279H probably damaging Het
Rbm25 G T 12: 83,659,567 D229Y probably damaging Het
Sdk2 T C 11: 113,793,858 K1926E probably damaging Het
Slc25a23 C T 17: 57,045,579 R435Q probably null Het
Srebf2 A G 15: 82,178,853 N457S probably benign Het
Stac2 T C 11: 98,052,948 D12G probably benign Het
Tal1 A C 4: 115,063,128 probably null Het
Usp25 G A 16: 77,077,117 R527Q probably damaging Het
Other mutations in Olfr1044
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02562:Olfr1044 APN 2 86171040 missense probably damaging 1.00
R0230:Olfr1044 UTSW 2 86171542 missense probably benign 0.22
R0306:Olfr1044 UTSW 2 86171716 missense possibly damaging 0.80
R0373:Olfr1044 UTSW 2 86171706 missense probably damaging 0.98
R0539:Olfr1044 UTSW 2 86171043 missense probably damaging 0.98
R1925:Olfr1044 UTSW 2 86171010 missense probably benign 0.22
R2367:Olfr1044 UTSW 2 86171637 missense probably damaging 1.00
R4114:Olfr1044 UTSW 2 86171415 missense possibly damaging 0.90
R4850:Olfr1044 UTSW 2 86171671 missense probably damaging 1.00
R4851:Olfr1044 UTSW 2 86171671 missense probably damaging 1.00
R7402:Olfr1044 UTSW 2 86171202 missense probably benign 0.34
R7439:Olfr1044 UTSW 2 86171010 missense probably damaging 1.00
R7441:Olfr1044 UTSW 2 86171010 missense probably damaging 1.00
R7624:Olfr1044 UTSW 2 86171220 missense possibly damaging 0.95
R8096:Olfr1044 UTSW 2 86171712 missense probably damaging 1.00
Posted On2013-12-09