Incidental Mutation 'R8123:Or5k1b'
ID 631623
Institutional Source Beutler Lab
Gene Symbol Or5k1b
Ensembl Gene ENSMUSG00000071510
Gene Name olfactory receptor family 5 subfamily K member 1B
Synonyms GA_x54KRFPKG5P-54930346-54929417, MOR184-2, Olfr172
MMRRC Submission 067552-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R8123 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 58580515-58581603 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 58581537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000150908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095991] [ENSMUST00000214139]
AlphaFold E9Q8F6
Predicted Effect possibly damaging
Transcript: ENSMUST00000095991
AA Change: M1L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093690
Gene: ENSMUSG00000071510
AA Change: M1L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.9e-52 PFAM
Pfam:7tm_1 41 290 3e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214139
AA Change: M1L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 99.0%
  • 20x: 97.1%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acer2 G T 4: 86,805,272 (GRCm39) V79F probably damaging Het
Acvr2a T C 2: 48,763,384 (GRCm39) S143P probably damaging Het
Adam22 T A 5: 8,142,833 (GRCm39) probably null Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Ankhd1 T C 18: 36,708,136 (GRCm39) F60S Het
Cacna1s A T 1: 136,035,917 (GRCm39) I1386F probably damaging Het
Cav2 T A 6: 17,286,992 (GRCm39) C145* probably null Het
Cc2d2a A T 5: 43,867,896 (GRCm39) T847S probably benign Het
Ces2g T A 8: 105,693,555 (GRCm39) M412K probably benign Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dnajc10 T C 2: 80,179,704 (GRCm39) V746A probably damaging Het
Dnm3 A G 1: 161,838,672 (GRCm39) S230P probably benign Het
Dph3 T C 14: 31,805,157 (GRCm39) K77R probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Fcgr4 A G 1: 170,847,572 (GRCm39) I57V probably benign Het
Fhad1 A T 4: 141,712,836 (GRCm39) I201K probably benign Het
Foxc2 C T 8: 121,843,601 (GRCm39) A83V probably damaging Het
Garnl3 T C 2: 32,994,950 (GRCm39) K20E probably damaging Het
Gtf2e1 A T 16: 37,336,105 (GRCm39) Y290N possibly damaging Het
Gtf3c1 A G 7: 125,303,196 (GRCm39) probably benign Het
Itga4 G A 2: 79,146,027 (GRCm39) S743N probably benign Het
Lamp1 A G 8: 13,217,158 (GRCm39) I56V probably benign Het
Lipt2 A G 7: 99,808,586 (GRCm39) D33G probably benign Het
Mat2a A G 6: 72,411,321 (GRCm39) probably null Het
Myh2 A G 11: 67,064,135 (GRCm39) E65G probably benign Het
Nedd4l T C 18: 65,207,845 (GRCm39) L58P probably damaging Het
Ngly1 T A 14: 16,260,799 (GRCm38) M161K probably benign Het
Nod1 C T 6: 54,914,391 (GRCm39) G801R probably damaging Het
Npy1r A T 8: 67,157,619 (GRCm39) I310F probably damaging Het
Or14j2 G C 17: 37,885,653 (GRCm39) H220Q probably benign Het
Pde3a A T 6: 141,411,917 (GRCm39) Y497F probably benign Het
Pecr A T 1: 72,314,094 (GRCm39) S153T probably benign Het
Pi4ka A G 16: 17,098,956 (GRCm39) V1976A Het
Plrg1 G A 3: 82,973,237 (GRCm39) A181T probably benign Het
Pou2f2 T C 7: 24,796,433 (GRCm39) K322R possibly damaging Het
Ppp1r17 T A 6: 55,999,443 (GRCm39) D25E probably damaging Het
Radil A C 5: 142,473,375 (GRCm39) Y769D probably damaging Het
Ric8b A G 10: 84,805,737 (GRCm39) N283D probably damaging Het
Spata3 C T 1: 85,952,075 (GRCm39) R110C unknown Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Traj39 G A 14: 54,417,451 (GRCm39) G11R Het
Ugt2b36 G A 5: 87,240,295 (GRCm39) P30L probably damaging Het
Vipr1 C A 9: 121,498,518 (GRCm39) P423T probably damaging Het
Vps13a T C 19: 16,625,066 (GRCm39) E2731G probably benign Het
Zfp451 A T 1: 33,801,248 (GRCm39) M1056K possibly damaging Het
Other mutations in Or5k1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03006:Or5k1b APN 16 58,581,511 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- GGGTGTGAAGAGAACGTTCT -3'
(R):5'- AAACAGGGGTTAAAGGAATAACTTC -3'

Sequencing Primer
(F):5'- AGAACGTTCTGTGCAAATCAG -3'
(R):5'- TGATGAAGCCACTTGCCTAG -3'
Posted On 2020-06-30