Incidental Mutation 'R5834:Or2h1b'
ID 449507
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 044055-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5834 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 37461923-37462861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37462690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 58 (Y58N)
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: Y58N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125907
Gene: ENSMUSG00000091601
AA Change: Y58N

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 5.7e-50 PFAM
Pfam:7tm_1 39 288 3.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208003
Predicted Effect probably damaging
Transcript: ENSMUST00000219235
AA Change: Y58N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,227,974 (GRCm39) probably null Het
Adamts20 A C 15: 94,251,465 (GRCm39) S441A probably damaging Het
Aen T A 7: 78,557,049 (GRCm39) M299K probably damaging Het
Akap3 T C 6: 126,842,796 (GRCm39) S472P probably benign Het
Ank3 T G 10: 69,658,087 (GRCm39) V158G probably damaging Het
Arfgap1 A G 2: 180,622,955 (GRCm39) D324G probably benign Het
Aste1 A T 9: 105,280,614 (GRCm39) R448S probably benign Het
Atp10a T A 7: 58,308,366 (GRCm39) L55Q probably benign Het
C1qtnf9 G A 14: 61,016,899 (GRCm39) G143D probably damaging Het
Camsap2 A G 1: 136,208,126 (GRCm39) V1122A probably benign Het
Cbl T C 9: 44,145,076 (GRCm39) H37R probably damaging Het
Cfap61 A C 2: 145,971,069 (GRCm39) D893A probably benign Het
Chd2 T A 7: 73,128,463 (GRCm39) I841F probably damaging Het
Chd9 A G 8: 91,723,792 (GRCm39) T622A probably damaging Het
Cntnap3 A G 13: 64,896,391 (GRCm39) Y1028H probably benign Het
Crybg2 A G 4: 133,801,434 (GRCm39) T865A probably benign Het
Cyp2c55 A G 19: 39,030,511 (GRCm39) I448V probably benign Het
Cyth1 T A 11: 118,083,289 (GRCm39) probably null Het
Dcaf13 C T 15: 39,007,037 (GRCm39) R324* probably null Het
Dhx37 C A 5: 125,502,794 (GRCm39) R42L probably damaging Het
Dock1 T A 7: 134,365,662 (GRCm39) V450E probably damaging Het
Ednrb A G 14: 104,058,313 (GRCm39) L330P probably damaging Het
Eml4 T A 17: 83,785,170 (GRCm39) H778Q probably damaging Het
Evx1 T A 6: 52,292,975 (GRCm39) I227N probably damaging Het
G3bp1 T A 11: 55,388,766 (GRCm39) V326E probably benign Het
Gata2 T C 6: 88,177,729 (GRCm39) V253A probably benign Het
Gbp2 A G 3: 142,339,138 (GRCm39) N397D probably damaging Het
Gm14401 C A 2: 176,778,696 (GRCm39) H261N probably benign Het
Hacd4 A T 4: 88,316,389 (GRCm39) H243Q probably benign Het
Hsd3b1 C A 3: 98,760,255 (GRCm39) K245N possibly damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ift27 A T 15: 78,049,443 (GRCm39) C86S probably damaging Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Irs3 T A 5: 137,642,821 (GRCm39) S206C probably damaging Het
Lefty2 C T 1: 180,720,716 (GRCm39) probably benign Het
Mark3 A G 12: 111,590,921 (GRCm39) I162V probably damaging Het
Matcap1 G A 8: 106,008,755 (GRCm39) Q421* probably null Het
Mefv A C 16: 3,533,910 (GRCm39) D120E probably damaging Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mre11a A G 9: 14,710,953 (GRCm39) I45V probably benign Het
Mtor A G 4: 148,620,993 (GRCm39) N1797S possibly damaging Het
Nav1 A C 1: 135,460,144 (GRCm39) M393R probably benign Het
Nod2 T C 8: 89,391,267 (GRCm39) S510P possibly damaging Het
Nos2 C T 11: 78,819,405 (GRCm39) T39I probably benign Het
Or5p54 T A 7: 107,554,113 (GRCm39) H88Q probably benign Het
Pcdh7 A G 5: 57,878,970 (GRCm39) S842G possibly damaging Het
Pcdha11 T C 18: 37,145,676 (GRCm39) V589A probably damaging Het
Plaa A C 4: 94,471,706 (GRCm39) V10G probably damaging Het
Pprc1 T A 19: 46,053,659 (GRCm39) probably benign Het
Ptprt T C 2: 161,402,189 (GRCm39) Y994C probably damaging Het
Ripply2 T A 9: 86,897,943 (GRCm39) W37R probably damaging Het
Rpgrip1 A G 14: 52,395,839 (GRCm39) D1227G probably damaging Het
Scoc C T 8: 84,164,260 (GRCm39) D10N possibly damaging Het
Sdk2 A T 11: 113,745,099 (GRCm39) I732N probably damaging Het
Six2 T C 17: 85,995,092 (GRCm39) K97E probably damaging Het
Slit2 A C 5: 48,416,989 (GRCm39) N1014H probably damaging Het
Smc1b A C 15: 84,973,866 (GRCm39) L930R probably damaging Het
Spag16 T A 1: 69,962,873 (GRCm39) M340K probably benign Het
Spata31 C T 13: 65,070,480 (GRCm39) S876L probably benign Het
Spen A G 4: 141,199,154 (GRCm39) Y3135H possibly damaging Het
Spta1 A T 1: 174,012,363 (GRCm39) probably null Het
Stk3 G A 15: 34,959,164 (GRCm39) T336I probably damaging Het
Tas2r118 T A 6: 23,969,876 (GRCm39) T62S probably benign Het
Tmprss11d A G 5: 86,454,169 (GRCm39) M212T probably damaging Het
Trpc7 A G 13: 56,923,971 (GRCm39) L738P probably damaging Het
Ttll8 A G 15: 88,801,449 (GRCm39) V413A possibly damaging Het
Usb1 G A 8: 96,060,161 (GRCm39) probably benign Het
Vmn1r238 T C 18: 3,123,168 (GRCm39) E82G probably benign Het
Vmn2r114 T C 17: 23,529,599 (GRCm39) T168A possibly damaging Het
Vmn2r60 C A 7: 41,765,932 (GRCm39) P13H probably benign Het
Wdr26 A G 1: 181,030,712 (GRCm39) L194P probably damaging Het
Zfhx2 G A 14: 55,310,787 (GRCm39) Q636* probably null Het
Zfyve26 A G 12: 79,313,311 (GRCm39) Y25H probably benign 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
R6348:Or2h1b UTSW 17 37,462,497 (GRCm39) missense probably damaging 0.96
R6461:Or2h1b UTSW 17 37,462,362 (GRCm39) missense probably damaging 1.00
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'- AGCGGTCAAAGGCCATTAC -3'
(R):5'- AAGCTGACAGTCTCATTCCTCC -3'

Sequencing Primer
(F):5'- CTGTCAACAGGATGCACTCTG -3'
(R):5'- GTCTCATTCCTCCAACTAGATACAG -3'
Posted On 2016-12-20