Incidental Mutation 'R6461:Or2h1b'
ID 517618
Institutional Source Beutler Lab
Gene Symbol Or2h1b
Ensembl Gene ENSMUSG00000091601
Gene Name olfactory receptor family 2 subfamily H member 1B
Synonyms MOR256-39P, GA_x6K02T2PSCP-1592036-1591098, Olfr93
MMRRC Submission 044390-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6461 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 37461923-37462861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37462362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 167 (C167Y)
Ref Sequence ENSEMBL: ENSMUSP00000151672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171679] [ENSMUST00000208003] [ENSMUST00000219235]
AlphaFold Q6UAH1
Predicted Effect probably damaging
Transcript: ENSMUST00000171679
AA Change: C167Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125907
Gene: ENSMUSG00000091601
AA Change: C167Y

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 5.7e-50 PFAM
Pfam:7tm_1 39 288 3.3e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208003
AA Change: C13Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219235
AA Change: C167Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 T A 10: 85,476,428 (GRCm39) I903N probably damaging Het
Atp12a C T 14: 56,610,695 (GRCm39) R280C probably damaging Het
Dnmbp A G 19: 43,855,964 (GRCm39) probably null Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fbxo40 T C 16: 36,790,390 (GRCm39) E240G probably benign Het
Gne T C 4: 44,060,078 (GRCm39) D105G probably damaging Het
Grin2c A T 11: 115,146,522 (GRCm39) M494K possibly damaging Het
Hnrnpk A G 13: 58,541,008 (GRCm39) probably null Het
Irf6 G C 1: 192,849,779 (GRCm39) G234R probably damaging Het
Lman2 A G 13: 55,494,728 (GRCm39) F347L probably damaging Het
Mcfd2 G A 17: 87,565,494 (GRCm39) T3I probably benign Het
Mon1b A G 8: 114,365,170 (GRCm39) D166G probably damaging Het
Mup10 T A 4: 60,538,078 (GRCm39) M4L unknown Het
Or13c7b T C 4: 43,821,355 (GRCm39) E2G probably benign Het
Or51s1 T A 7: 102,558,235 (GRCm39) R270S possibly damaging Het
Papln A G 12: 83,828,587 (GRCm39) probably null Het
Pelp1 A T 11: 70,287,132 (GRCm39) V522E probably damaging Het
Scn1a T C 2: 66,156,466 (GRCm39) D481G probably null Het
Scube1 G A 15: 83,496,628 (GRCm39) T791I probably damaging Het
Sec24a T C 11: 51,604,373 (GRCm39) I748V possibly damaging Het
Slc29a2 A G 19: 5,077,768 (GRCm39) T236A probably benign Het
Smarca4 T A 9: 21,590,316 (GRCm39) I1152N probably damaging Het
Syngap1 A G 17: 27,183,822 (GRCm39) I1026V probably damaging Het
Tnxb G T 17: 34,890,872 (GRCm39) R405L probably damaging Het
Zbtb11 G A 16: 55,827,234 (GRCm39) R900H probably damaging Het
Zfp142 T C 1: 74,606,344 (GRCm39) K1639R probably damaging Het
Other mutations in Or2h1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Or2h1b APN 17 37,462,332 (GRCm39) missense probably damaging 1.00
IGL02369:Or2h1b APN 17 37,462,665 (GRCm39) missense probably damaging 1.00
IGL02392:Or2h1b APN 17 37,461,979 (GRCm39) missense probably benign 0.03
IGL02516:Or2h1b APN 17 37,462,163 (GRCm39) missense possibly damaging 0.95
IGL03089:Or2h1b APN 17 37,462,534 (GRCm39) missense probably damaging 1.00
PIT4515001:Or2h1b UTSW 17 37,462,270 (GRCm39) missense probably benign
R0396:Or2h1b UTSW 17 37,462,446 (GRCm39) missense probably damaging 1.00
R2276:Or2h1b UTSW 17 37,462,145 (GRCm39) nonsense probably null
R2278:Or2h1b UTSW 17 37,462,145 (GRCm39) nonsense probably null
R3419:Or2h1b UTSW 17 37,462,242 (GRCm39) missense probably damaging 0.99
R4254:Or2h1b UTSW 17 37,462,530 (GRCm39) missense possibly damaging 0.90
R4353:Or2h1b UTSW 17 37,462,228 (GRCm39) missense probably damaging 1.00
R4530:Or2h1b UTSW 17 37,462,498 (GRCm39) missense possibly damaging 0.84
R4666:Or2h1b UTSW 17 37,462,270 (GRCm39) missense possibly damaging 0.61
R5583:Or2h1b UTSW 17 37,462,485 (GRCm39) missense probably benign 0.00
R5834:Or2h1b UTSW 17 37,462,690 (GRCm39) missense probably damaging 1.00
R6348:Or2h1b UTSW 17 37,462,497 (GRCm39) missense probably damaging 0.96
R6788:Or2h1b UTSW 17 37,462,713 (GRCm39) missense probably damaging 0.98
R7969:Or2h1b UTSW 17 37,462,077 (GRCm39) missense possibly damaging 0.95
R8374:Or2h1b UTSW 17 37,462,636 (GRCm39) missense probably damaging 0.97
R9126:Or2h1b UTSW 17 37,462,123 (GRCm39) missense possibly damaging 0.90
R9298:Or2h1b UTSW 17 37,462,572 (GRCm39) missense probably damaging 1.00
Z1177:Or2h1b UTSW 17 37,462,716 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGTCCCAAAAGCTTTTCTGC -3'
(R):5'- TGGGGACAACAGAGTGCATC -3'

Sequencing Primer
(F):5'- TCTGCGCCCTTTTGAAGAG -3'
(R):5'- ACAGAGTGCATCCTGTTGAC -3'
Posted On 2018-05-21