Incidental Mutation 'IGL03006:Or5k1b'
ID 407543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5k1b
Ensembl Gene ENSMUSG00000071510
Gene Name olfactory receptor family 5 subfamily K member 1B
Synonyms GA_x54KRFPKG5P-54930346-54929417, MOR184-2, Olfr172
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # IGL03006
Quality Score
Status
Chromosome 16
Chromosomal Location 58580515-58581603 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58581511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 9 (K9N)
Ref Sequence ENSEMBL: ENSMUSP00000150908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095991] [ENSMUST00000214139]
AlphaFold E9Q8F6
Predicted Effect probably benign
Transcript: ENSMUST00000095991
AA Change: K9N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000093690
Gene: ENSMUSG00000071510
AA Change: K9N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.9e-52 PFAM
Pfam:7tm_1 41 290 3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214139
AA Change: K9N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
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
1700012B07Rik T A 11: 109,718,671 (GRCm39) S21C probably damaging Het
2210408I21Rik T C 13: 77,471,891 (GRCm39) probably null Het
Abcc3 T C 11: 94,259,421 (GRCm39) D340G probably benign Het
Adamts17 G T 7: 66,728,095 (GRCm39) R879L possibly damaging Het
Adissp A C 2: 130,993,634 (GRCm39) D22E probably damaging Het
Cacna1f C A X: 7,493,142 (GRCm39) T1275K probably damaging Het
Csmd2 T A 4: 128,374,558 (GRCm39) probably benign Het
Dll1 C T 17: 15,593,854 (GRCm39) R171Q probably benign Het
Dnm1 T A 2: 32,243,133 (GRCm39) D30V possibly damaging Het
Fam184a G A 10: 53,574,793 (GRCm39) S216L probably damaging Het
Fbxo33 G A 12: 59,251,105 (GRCm39) A470V probably benign Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Ighv7-1 A T 12: 113,860,145 (GRCm39) S82R probably damaging Het
Klk1b4 A G 7: 43,861,019 (GRCm39) I221V probably benign Het
Lama3 T C 18: 12,601,425 (GRCm39) probably benign Het
Lrch1 A G 14: 75,051,060 (GRCm39) L359P probably damaging Het
Mapk8ip3 T C 17: 25,120,489 (GRCm39) T882A probably benign Het
Med12 C T X: 100,321,684 (GRCm39) R456W probably damaging Het
Mms22l T C 4: 24,521,253 (GRCm39) S267P probably damaging Het
Mtpap G A 18: 4,375,721 (GRCm39) G34R possibly damaging Het
Nf1 G A 11: 79,436,257 (GRCm39) D1966N probably damaging Het
Nlrp9c G A 7: 26,071,507 (GRCm39) T867I probably damaging Het
Nrap C T 19: 56,335,596 (GRCm39) V941I probably benign Het
Pcdh10 A G 3: 45,333,937 (GRCm39) I84V probably damaging Het
Polr3d T A 14: 70,678,603 (GRCm39) probably null Het
Prkar2a G T 9: 108,617,640 (GRCm39) V233L probably benign Het
Prl4a1 T C 13: 28,207,359 (GRCm39) V211A probably damaging Het
Qpct T C 17: 79,378,151 (GRCm39) V107A probably benign Het
Rai1 T C 11: 60,079,031 (GRCm39) S1032P possibly damaging Het
Rims1 G T 1: 22,367,178 (GRCm39) T1113K probably damaging Het
Rxra C T 2: 27,649,657 (GRCm39) T454I probably damaging Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Scp2 T C 4: 107,948,477 (GRCm39) K167E probably benign Het
Sephs2 A G 7: 126,872,206 (GRCm39) F296L probably benign Het
Setd1b A G 5: 123,286,514 (GRCm39) E520G unknown Het
Slc28a2 G A 2: 122,283,019 (GRCm39) V308M possibly damaging Het
Smarcad1 T A 6: 65,060,873 (GRCm39) I451K probably benign Het
Tarbp1 C T 8: 127,170,881 (GRCm39) D1040N probably damaging Het
Tdrd6 T C 17: 43,936,323 (GRCm39) D1575G probably damaging Het
Tll1 T A 8: 64,527,251 (GRCm39) probably benign Het
Tsks A T 7: 44,600,198 (GRCm39) probably benign Het
Ttc1 A T 11: 43,636,147 (GRCm39) M32K probably benign Het
Txlnb C T 10: 17,714,723 (GRCm39) A385V probably damaging Het
Zc4h2 T C X: 94,687,019 (GRCm39) H98R probably damaging Het
Other mutations in Or5k1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1210:Or5k1b UTSW 16 58,581,413 (GRCm39) missense probably damaging 1.00
R1521:Or5k1b UTSW 16 58,581,216 (GRCm39) missense probably damaging 1.00
R1710:Or5k1b UTSW 16 58,581,504 (GRCm39) missense probably benign 0.02
R4730:Or5k1b UTSW 16 58,581,105 (GRCm39) missense probably benign 0.00
R4784:Or5k1b UTSW 16 58,580,911 (GRCm39) missense probably damaging 1.00
R4924:Or5k1b UTSW 16 58,580,982 (GRCm39) nonsense probably null
R5213:Or5k1b UTSW 16 58,580,984 (GRCm39) missense probably damaging 1.00
R5967:Or5k1b UTSW 16 58,580,725 (GRCm39) missense probably damaging 1.00
R7022:Or5k1b UTSW 16 58,581,482 (GRCm39) missense probably benign 0.00
R7259:Or5k1b UTSW 16 58,580,868 (GRCm39) missense possibly damaging 0.92
R7745:Or5k1b UTSW 16 58,580,782 (GRCm39) nonsense probably null
R7983:Or5k1b UTSW 16 58,581,377 (GRCm39) missense probably benign 0.37
R8123:Or5k1b UTSW 16 58,581,537 (GRCm39) start codon destroyed possibly damaging 0.91
R8189:Or5k1b UTSW 16 58,581,288 (GRCm39) missense probably damaging 1.00
R9245:Or5k1b UTSW 16 58,581,126 (GRCm39) nonsense probably null
R9464:Or5k1b UTSW 16 58,581,202 (GRCm39) nonsense probably null
R9686:Or5k1b UTSW 16 58,581,126 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02