Incidental Mutation 'R4072:Or8u8'
ID 316319
Institutional Source Beutler Lab
Gene Symbol Or8u8
Ensembl Gene ENSMUSG00000075199
Gene Name olfactory receptor family 8 subfamily U member 8
Synonyms IE6, Olfr52, MOR185-6, GA_x6K02T2Q125-47650922-47649963
MMRRC Submission 040854-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # R4072 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86011494-86012453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86011991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 155 (M155L)
Ref Sequence ENSEMBL: ENSMUSP00000097489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099905] [ENSMUST00000215138] [ENSMUST00000215171]
AlphaFold Q8VFL0
Predicted Effect probably benign
Transcript: ENSMUST00000099905
AA Change: M155L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000097489
Gene: ENSMUSG00000075199
AA Change: M155L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5e-56 PFAM
Pfam:7tm_1 41 290 3.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215138
AA Change: M155L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215739
Meta Mutation Damage Score 0.0862 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (52/53)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,922,342 (GRCm39) probably null Het
Abcc5 A G 16: 20,152,445 (GRCm39) I1367T probably damaging Het
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Acss3 C T 10: 106,959,446 (GRCm39) probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Ankar G T 1: 72,727,751 (GRCm39) D169E probably damaging Het
Arfgap3 C T 15: 83,187,330 (GRCm39) A510T probably damaging Het
Atp4a T C 7: 30,414,757 (GRCm39) I182T probably benign Het
Axl A G 7: 25,463,336 (GRCm39) probably benign Het
Baz1a A G 12: 54,988,345 (GRCm39) I268T probably benign Het
Baz2b A T 2: 59,742,917 (GRCm39) probably null Het
C2cd4d C A 3: 94,271,185 (GRCm39) C150* probably null Het
Crtac1 T C 19: 42,293,146 (GRCm39) Y321C probably damaging Het
Dnah11 T C 12: 118,070,227 (GRCm39) H1526R probably damaging Het
Dnah5 A T 15: 28,340,444 (GRCm39) R2284* probably null Het
Dnah9 T C 11: 65,975,730 (GRCm39) T1440A probably benign Het
Eps15l1 A G 8: 73,134,128 (GRCm39) I482T probably damaging Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Eva1c T A 16: 90,701,019 (GRCm39) F331Y probably damaging Het
Fcho1 T C 8: 72,163,013 (GRCm39) H672R probably damaging Het
Galntl5 A T 5: 25,403,478 (GRCm39) K150* probably null Het
Gm19965 A G 1: 116,748,801 (GRCm39) T161A probably benign Het
Hydin G A 8: 111,231,888 (GRCm39) E1617K possibly damaging Het
Krtap31-1 T C 11: 99,799,058 (GRCm39) I87T possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Obscn A G 11: 58,888,009 (GRCm39) I7652T unknown Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Pde7a G A 3: 19,311,017 (GRCm39) R70C probably damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Pms2 T C 5: 143,865,819 (GRCm39) I742T probably damaging Het
Pot1a T C 6: 25,752,356 (GRCm39) probably null Het
Pramel33 A T 5: 93,633,057 (GRCm39) M50K probably damaging Het
Rp1l1 A T 14: 64,265,581 (GRCm39) E389V probably damaging Het
Scnn1a A G 6: 125,315,870 (GRCm39) N407S probably damaging Het
Slc30a7 T C 3: 115,740,329 (GRCm39) D374G probably damaging Het
Slco2a1 T A 9: 102,945,201 (GRCm39) I192N probably damaging Het
Srp72 C A 5: 77,146,098 (GRCm39) T633K probably benign Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Tmprss11e T C 5: 86,863,502 (GRCm39) T188A possibly damaging Het
Tox T C 4: 6,842,396 (GRCm39) T45A probably damaging Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Vwc2 T A 11: 11,066,446 (GRCm39) L178Q probably damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Other mutations in Or8u8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02238:Or8u8 APN 2 86,011,939 (GRCm39) splice site probably null
R0422:Or8u8 UTSW 2 86,011,566 (GRCm39) missense probably benign 0.00
R0688:Or8u8 UTSW 2 86,011,949 (GRCm39) splice site probably null
R0976:Or8u8 UTSW 2 86,012,152 (GRCm39) missense probably damaging 0.99
R1240:Or8u8 UTSW 2 86,012,453 (GRCm39) start codon destroyed possibly damaging 0.94
R1316:Or8u8 UTSW 2 86,011,709 (GRCm39) missense probably benign 0.01
R1865:Or8u8 UTSW 2 86,011,882 (GRCm39) missense probably damaging 1.00
R2188:Or8u8 UTSW 2 86,011,780 (GRCm39) missense probably damaging 1.00
R4222:Or8u8 UTSW 2 86,012,341 (GRCm39) missense probably damaging 0.99
R5096:Or8u8 UTSW 2 86,012,276 (GRCm39) missense probably damaging 1.00
R5103:Or8u8 UTSW 2 86,011,960 (GRCm39) missense probably benign 0.41
R5934:Or8u8 UTSW 2 86,012,446 (GRCm39) missense probably benign 0.00
R6168:Or8u8 UTSW 2 86,012,309 (GRCm39) missense probably damaging 0.99
R6601:Or8u8 UTSW 2 86,012,309 (GRCm39) missense probably damaging 1.00
R7448:Or8u8 UTSW 2 86,011,678 (GRCm39) missense probably damaging 1.00
R7497:Or8u8 UTSW 2 86,012,417 (GRCm39) missense probably benign 0.00
R9362:Or8u8 UTSW 2 86,011,732 (GRCm39) missense probably damaging 1.00
R9587:Or8u8 UTSW 2 86,011,564 (GRCm39) missense probably damaging 1.00
R9728:Or8u8 UTSW 2 86,011,636 (GRCm39) missense possibly damaging 0.71
R9774:Or8u8 UTSW 2 86,012,015 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TGAGCGCATCCTCAGAATG -3'
(R):5'- CCATATCCTTCAATGCATGTGC -3'

Sequencing Primer
(F):5'- CATCCTCAGAATGGCAGAAATAATG -3'
(R):5'- GCATGTGCTGCCCAGTTAG -3'
Posted On 2015-05-15