Incidental Mutation 'R2278:Or2h1b'
ID 242932
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 040277-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R2278 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 37461923-37462861 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 37462145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 239 (C239*)
Ref Sequence ENSEMBL: ENSMUSP00000151672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171679] [ENSMUST00000208003] [ENSMUST00000219235]
AlphaFold Q6UAH1
Predicted Effect probably null
Transcript: ENSMUST00000171679
AA Change: C239*
SMART Domains Protein: ENSMUSP00000125907
Gene: ENSMUSG00000091601
AA Change: C239*

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 5.7e-50 PFAM
Pfam:7tm_1 39 288 3.3e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000208003
AA Change: C85*
Predicted Effect probably null
Transcript: ENSMUST00000219235
AA Change: C239*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,201,400 (GRCm39) D251G probably damaging Het
Aqp3 T C 4: 41,093,836 (GRCm39) D219G probably damaging Het
Arhgef15 C A 11: 68,842,517 (GRCm39) W404C probably damaging Het
Bdp1 T A 13: 100,197,847 (GRCm39) E846V probably damaging Het
Bdp1 C A 13: 100,197,838 (GRCm39) S849I probably benign Het
Bmp5 T A 9: 75,683,830 (GRCm39) N152K possibly damaging Het
Bpifb2 C T 2: 153,720,399 (GRCm39) Q53* probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a1 A G 3: 144,463,785 (GRCm39) V164A probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Gcn1 T C 5: 115,749,234 (GRCm39) I1922T probably damaging Het
Gnpat A G 8: 125,603,659 (GRCm39) D179G probably benign Het
Hook1 A G 4: 95,886,957 (GRCm39) Q188R probably benign Het
Hsf4 G A 8: 105,996,628 (GRCm39) D18N probably null Het
Ifi44 T C 3: 151,438,025 (GRCm39) N421D probably benign Het
Igdcc4 C T 9: 65,038,025 (GRCm39) T801I probably damaging Het
Itgad T C 7: 127,804,342 (GRCm39) S107P possibly damaging Het
Kank2 C A 9: 21,681,080 (GRCm39) M816I probably damaging Het
Kcnk18 T C 19: 59,223,926 (GRCm39) I357T probably damaging Het
Kcnma1 T A 14: 23,593,151 (GRCm39) R120* probably null Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Lypla1 T G 1: 4,911,321 (GRCm39) probably null Het
Mknk1 C T 4: 115,732,690 (GRCm39) A306V probably damaging Het
Ncoa6 A T 2: 155,249,570 (GRCm39) S1245T possibly damaging Het
Npas3 T A 12: 53,687,285 (GRCm39) V122E possibly damaging Het
Nrxn2 G C 19: 6,531,883 (GRCm39) Q789H probably damaging Het
Or3a1 T C 11: 74,225,991 (GRCm39) E22G probably benign Het
Or5p69 T C 7: 107,967,288 (GRCm39) V197A probably benign Het
Or5w12 A G 2: 87,502,289 (GRCm39) C141R possibly damaging Het
Otog G A 7: 45,949,468 (GRCm39) V2369M probably damaging Het
Pfkp T C 13: 6,669,245 (GRCm39) probably null Het
Pja2 T C 17: 64,599,865 (GRCm39) S478G probably damaging Het
Prune2 A G 19: 17,095,919 (GRCm39) I474M possibly damaging Het
Psg22 C A 7: 18,460,762 (GRCm39) Q464K possibly damaging Het
Rp1 C T 1: 4,418,250 (GRCm39) S954N possibly damaging Het
Rps27l T A 9: 66,854,208 (GRCm39) D34E probably benign Het
Sae1 A C 7: 16,104,291 (GRCm39) L106R probably damaging Het
Siglec1 T A 2: 130,913,257 (GRCm39) Q1553L probably benign Het
Slc11a2 A G 15: 100,307,962 (GRCm39) probably null Het
Slc14a2 A T 18: 78,203,159 (GRCm39) M556K probably benign Het
Slk T G 19: 47,608,188 (GRCm39) I380M probably damaging Het
Spink5 A G 18: 44,119,396 (GRCm39) N236D probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tiam2 G A 17: 3,477,495 (GRCm39) V573M probably damaging Het
Tmem170 C A 8: 112,596,349 (GRCm39) V59L probably benign Het
Tmem255b C T 8: 13,501,081 (GRCm39) A106V probably damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Vps13c A G 9: 67,846,354 (GRCm39) M2141V probably benign Het
Vwa5a T C 9: 38,634,503 (GRCm39) Y143H probably damaging Het
Zfp280d T A 9: 72,246,055 (GRCm39) C707* probably null Het
Zfp668 A T 7: 127,465,998 (GRCm39) N395K probably benign Het
Znhit6 G T 3: 145,281,991 (GRCm39) 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
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
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'- TGCCCTTAGTTTCTTCCAGAAG -3'
(R):5'- CTAATCCGACTCTCTTGTGGGG -3'

Sequencing Primer
(F):5'- AGTTTCTTCCAGAAGCCGCATC -3'
(R):5'- TGGGGACACCACTTTTAATGAG -3'
Posted On 2014-10-16