Incidental Mutation 'R5376:Or10h1b'
ID 425582
Institutional Source Beutler Lab
Gene Symbol Or10h1b
Ensembl Gene ENSMUSG00000094891
Gene Name olfactory receptor family 10 subfamily H member 1B
Synonyms GA_x6K02T2MG8L-16493-15546, MOR267-17, Olfr55, MOR267-20, IF6
MMRRC Submission 042952-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R5376 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 33395390-33396337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33395621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 82 (I82F)
Ref Sequence ENSEMBL: ENSMUSP00000153707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112168] [ENSMUST00000214888] [ENSMUST00000214891] [ENSMUST00000216633]
AlphaFold A0A2I3BPU7
Predicted Effect possibly damaging
Transcript: ENSMUST00000112168
AA Change: I78F

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111680
Gene: ENSMUSG00000094891
AA Change: I78F

DomainStartEndE-ValueType
Pfam:7tm_4 31 309 3.9e-53 PFAM
Pfam:7TM_GPCR_Srsx 35 306 2e-5 PFAM
Pfam:7tm_1 41 305 8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214888
AA Change: I82F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000214891
AA Change: I82F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216633
AA Change: I78F

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G C 11: 119,902,860 (GRCm39) S512W probably damaging Het
Abcc2 A T 19: 43,818,339 (GRCm39) N1275I possibly damaging Het
Adgb T C 10: 10,222,307 (GRCm39) T1455A probably benign Het
Cnnm3 T A 1: 36,559,759 (GRCm39) L566H probably damaging Het
Coa8 A G 12: 111,696,492 (GRCm39) D142G probably damaging Het
Dennd4b C T 3: 90,185,363 (GRCm39) P1229L probably benign Het
Dsc1 T G 18: 20,221,503 (GRCm39) K657N probably benign Het
Dzip1 C T 14: 119,148,805 (GRCm39) M291I probably damaging Het
Eef1d G T 15: 75,775,038 (GRCm39) T207N probably benign Het
Eif4g1 T A 16: 20,502,577 (GRCm39) Y955N probably damaging Het
Evi5l T C 8: 4,260,770 (GRCm39) T1016A probably damaging Het
Fcrl6 G A 1: 172,426,847 (GRCm39) T33M probably damaging Het
Golga3 T C 5: 110,368,811 (GRCm39) probably null Het
Gpbp1 T C 13: 111,563,176 (GRCm39) N425D probably damaging Het
Igkv12-46 A C 6: 69,741,520 (GRCm39) W112G probably benign Het
Kdelr3 T A 15: 79,410,061 (GRCm39) V182E possibly damaging Het
Kif15 T A 9: 122,823,036 (GRCm39) N700K probably benign Het
Mycbp2 A T 14: 103,479,868 (GRCm39) L1169* probably null Het
Myof A G 19: 37,904,848 (GRCm39) Y905H probably damaging Het
Or52e5 A T 7: 104,719,564 (GRCm39) T297S probably damaging Het
Or5b113 A T 19: 13,342,762 (GRCm39) M257L possibly damaging Het
Otud7b T A 3: 96,060,841 (GRCm39) probably null Het
Pde4d T C 13: 109,909,178 (GRCm39) C197R probably benign Het
Pde8b T C 13: 95,162,654 (GRCm39) T823A probably benign Het
Plekha5 C T 6: 140,496,870 (GRCm39) T140M probably damaging Het
Plekhg2 G A 7: 28,062,094 (GRCm39) R594W probably damaging Het
Potefam1 T C 2: 111,045,944 (GRCm39) D286G probably benign Het
Ppp2r1b C T 9: 50,778,228 (GRCm39) A315V possibly damaging Het
Psg25 A T 7: 18,260,460 (GRCm39) I146N probably benign Het
Psg26 A T 7: 18,214,030 (GRCm39) S211T probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGT 11: 3,103,384 (GRCm39) probably benign Het
Slc5a9 A T 4: 111,750,414 (GRCm39) V148E possibly damaging Het
Spmip9 C A 6: 70,890,466 (GRCm39) A109S possibly damaging Het
Txndc15 T G 13: 55,866,032 (GRCm39) N165K probably damaging Het
Zfp493 T C 13: 67,934,437 (GRCm39) I130T possibly damaging Het
Other mutations in Or10h1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Or10h1b APN 17 33,395,756 (GRCm39) missense probably damaging 1.00
R0384:Or10h1b UTSW 17 33,395,522 (GRCm39) missense probably damaging 1.00
R8359:Or10h1b UTSW 17 33,395,895 (GRCm39) missense probably damaging 1.00
R9487:Or10h1b UTSW 17 33,395,548 (GRCm39) missense possibly damaging 0.59
R9560:Or10h1b UTSW 17 33,395,868 (GRCm39) missense probably damaging 1.00
Z1177:Or10h1b UTSW 17 33,395,407 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAGAGTTCATCCTCATTGGC -3'
(R):5'- TGTCCCCATGAATGATCCACC -3'

Sequencing Primer
(F):5'- AGAGTTCATCCTCATTGGCTTCTC -3'
(R):5'- TACCAGGCAGGCACAGC -3'
Posted On 2016-08-04