Incidental Mutation 'IGL01978:Or5h22'
ID 181756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5h22
Ensembl Gene ENSMUSG00000064006
Gene Name olfactory receptor family 5 subfamily H member 22
Synonyms GA_x54KRFPKG5P-55303207-55302284, Olfr190, MOR183-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL01978
Quality Score
Status
Chromosome 16
Chromosomal Location 58894518-58895441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58894630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 271 (I271K)
Ref Sequence ENSEMBL: ENSMUSP00000148991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071243] [ENSMUST00000206214] [ENSMUST00000215687] [ENSMUST00000216495]
AlphaFold K7N5T5
Predicted Effect probably benign
Transcript: ENSMUST00000071243
AA Change: I271K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000071224
Gene: ENSMUSG00000064006
AA Change: I271K

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.1e-46 PFAM
Pfam:7tm_1 39 288 2.8e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206214
AA Change: I271K
Predicted Effect probably benign
Transcript: ENSMUST00000215687
AA Change: I271K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216495
AA Change: I271K

PolyPhen 2 Score 0.329 (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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,453,164 (GRCm39) T6S probably damaging Het
Acot5 T C 12: 84,122,172 (GRCm39) V252A possibly damaging Het
Bmper A T 9: 23,292,737 (GRCm39) N349Y probably damaging Het
Brap A G 5: 121,816,910 (GRCm39) probably benign Het
Col9a2 G A 4: 120,901,863 (GRCm39) G139E unknown Het
Cplane1 A T 15: 8,248,866 (GRCm39) N1805I probably damaging Het
Cyp2j8 A C 4: 96,392,246 (GRCm39) probably null Het
Dcbld2 A G 16: 58,284,682 (GRCm39) D612G probably benign Het
Dsc3 C T 18: 20,107,253 (GRCm39) R456Q possibly damaging Het
Fat2 T C 11: 55,160,972 (GRCm39) T3253A probably benign Het
Hoxc12 T A 15: 102,845,299 (GRCm39) H4Q probably damaging Het
Il6st A G 13: 112,633,891 (GRCm39) E445G possibly damaging Het
Ipo8 T C 6: 148,678,787 (GRCm39) E937G probably benign Het
Kif5a A C 10: 127,081,608 (GRCm39) D185E probably benign Het
Klhl38 T C 15: 58,178,485 (GRCm39) D495G probably damaging Het
Klra5 A G 6: 129,888,393 (GRCm39) V11A probably benign Het
Lrch1 G A 14: 75,023,782 (GRCm39) T581M probably damaging Het
Mecom A G 3: 30,017,315 (GRCm39) I450T probably damaging Het
Mrgprb2 C A 7: 48,202,312 (GRCm39) V138L probably damaging Het
Muc15 G A 2: 110,561,941 (GRCm39) A126T probably benign Het
Mybpc1 A T 10: 88,367,632 (GRCm39) I522K probably damaging Het
Nectin1 G A 9: 43,703,444 (GRCm39) R234H probably damaging Het
Or5b98 T C 19: 12,931,406 (GRCm39) F151S probably benign Het
Pdia6 T A 12: 17,324,423 (GRCm39) H91Q possibly damaging Het
Pfkfb4 A T 9: 108,858,010 (GRCm39) H445L probably damaging Het
Pkd1l1 T C 11: 8,911,336 (GRCm39) T314A unknown Het
Rb1cc1 A G 1: 6,308,592 (GRCm39) D159G probably damaging Het
Rhoh T A 5: 66,050,031 (GRCm39) S100R probably benign Het
Rsbn1 T A 3: 103,868,816 (GRCm39) D618E probably damaging Het
Slc25a47 T C 12: 108,817,116 (GRCm39) V4A probably damaging Het
Svs3b T A 2: 164,098,541 (GRCm39) M1L probably benign Het
Thsd7a T C 6: 12,331,005 (GRCm39) N1379S probably benign Het
Tmed3 T C 9: 89,586,806 (GRCm39) D58G probably benign Het
Trh G A 6: 92,219,596 (GRCm39) A240V probably benign Het
Ubox5 A T 2: 130,442,372 (GRCm39) V105E probably benign Het
Vmn2r67 A G 7: 84,800,649 (GRCm39) probably null Het
Vps13c A G 9: 67,837,925 (GRCm39) H1825R probably benign Het
Wasf1 C A 10: 40,812,197 (GRCm39) P329T unknown Het
Wee2 T C 6: 40,432,087 (GRCm39) F219L probably damaging Het
Zp3r T C 1: 130,526,678 (GRCm39) D175G probably damaging Het
Other mutations in Or5h22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Or5h22 APN 16 58,895,052 (GRCm39) nonsense probably null
IGL01011:Or5h22 APN 16 58,894,793 (GRCm39) missense probably benign 0.10
IGL01453:Or5h22 APN 16 58,895,132 (GRCm39) missense probably benign 0.00
IGL02348:Or5h22 APN 16 58,895,312 (GRCm39) missense probably damaging 0.99
IGL02423:Or5h22 APN 16 58,894,630 (GRCm39) missense probably benign 0.33
IGL02628:Or5h22 APN 16 58,895,155 (GRCm39) missense probably benign 0.01
R0220:Or5h22 UTSW 16 58,895,095 (GRCm39) missense probably damaging 1.00
R0471:Or5h22 UTSW 16 58,894,633 (GRCm39) missense probably benign 0.01
R1697:Or5h22 UTSW 16 58,895,270 (GRCm39) missense probably damaging 1.00
R3009:Or5h22 UTSW 16 58,895,350 (GRCm39) missense probably benign 0.01
R3011:Or5h22 UTSW 16 58,895,350 (GRCm39) missense probably benign 0.01
R3027:Or5h22 UTSW 16 58,895,330 (GRCm39) missense probably benign 0.00
R4080:Or5h22 UTSW 16 58,894,619 (GRCm39) missense probably damaging 0.96
R4482:Or5h22 UTSW 16 58,895,286 (GRCm39) missense probably benign 0.02
R4895:Or5h22 UTSW 16 58,895,020 (GRCm39) missense probably benign 0.09
R5409:Or5h22 UTSW 16 58,894,559 (GRCm39) missense possibly damaging 0.94
R5825:Or5h22 UTSW 16 58,895,024 (GRCm39) missense probably benign 0.01
R6146:Or5h22 UTSW 16 58,895,077 (GRCm39) missense probably benign 0.05
R6249:Or5h22 UTSW 16 58,894,795 (GRCm39) missense probably damaging 1.00
R6996:Or5h22 UTSW 16 58,894,555 (GRCm39) missense probably benign 0.00
R7283:Or5h22 UTSW 16 58,894,555 (GRCm39) missense probably benign
R7707:Or5h22 UTSW 16 58,894,634 (GRCm39) missense possibly damaging 0.52
R8381:Or5h22 UTSW 16 58,895,225 (GRCm39) missense probably damaging 1.00
R8507:Or5h22 UTSW 16 58,895,243 (GRCm39) missense possibly damaging 0.81
R8887:Or5h22 UTSW 16 58,894,846 (GRCm39) missense possibly damaging 0.93
Posted On 2014-05-07