Incidental Mutation 'R5058:Or8g30'
ID 391029
Institutional Source Beutler Lab
Gene Symbol Or8g30
Ensembl Gene ENSMUSG00000057349
Gene Name olfactory receptor family 8 subfamily G member 30
Synonyms MOR171-45, GA_x6K02T2PVTD-33016899-33015934, Olfr948, MOR171-51
MMRRC Submission 042648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5058 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 39229943-39230908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 39229960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 317 (V317L)
Ref Sequence ENSEMBL: ENSMUSP00000149422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076516] [ENSMUST00000216132]
AlphaFold Q9EQ95
Predicted Effect probably benign
Transcript: ENSMUST00000076516
AA Change: V317L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075834
Gene: ENSMUSG00000057349
AA Change: V317L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.6e-49 PFAM
Pfam:7tm_1 41 290 1.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216132
AA Change: V317L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Dhx37 A C 5: 125,499,295 (GRCm39) Y638D probably benign Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P probably damaging Het
Other mutations in Or8g30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01588:Or8g30 APN 9 39,230,128 (GRCm39) nonsense probably null
IGL02297:Or8g30 APN 9 39,229,999 (GRCm39) missense possibly damaging 0.64
IGL02678:Or8g30 APN 9 39,230,217 (GRCm39) missense probably benign 0.01
IGL03182:Or8g30 APN 9 39,230,277 (GRCm39) missense probably benign 0.16
R0116:Or8g30 UTSW 9 39,230,160 (GRCm39) missense probably damaging 1.00
R0152:Or8g30 UTSW 9 39,230,757 (GRCm39) missense probably benign 0.32
R0227:Or8g30 UTSW 9 39,229,974 (GRCm39) missense probably benign 0.00
R0317:Or8g30 UTSW 9 39,230,757 (GRCm39) missense probably benign 0.32
R2151:Or8g30 UTSW 9 39,230,413 (GRCm39) missense probably damaging 0.97
R2210:Or8g30 UTSW 9 39,230,089 (GRCm39) missense probably damaging 1.00
R2974:Or8g30 UTSW 9 39,230,292 (GRCm39) missense probably damaging 1.00
R4716:Or8g30 UTSW 9 39,230,725 (GRCm39) missense probably benign 0.22
R4886:Or8g30 UTSW 9 39,230,881 (GRCm39) missense probably benign 0.01
R5339:Or8g30 UTSW 9 39,230,599 (GRCm39) missense possibly damaging 0.94
R6431:Or8g30 UTSW 9 39,230,074 (GRCm39) missense possibly damaging 0.50
R6736:Or8g30 UTSW 9 39,230,089 (GRCm39) missense probably damaging 1.00
R6902:Or8g30 UTSW 9 39,230,315 (GRCm39) missense probably damaging 1.00
R6946:Or8g30 UTSW 9 39,230,315 (GRCm39) missense probably damaging 1.00
R8303:Or8g30 UTSW 9 39,230,689 (GRCm39) missense probably damaging 1.00
R8314:Or8g30 UTSW 9 39,230,601 (GRCm39) missense probably damaging 1.00
R8413:Or8g30 UTSW 9 39,230,401 (GRCm39) nonsense probably null
R8784:Or8g30 UTSW 9 39,229,989 (GRCm39) missense probably benign 0.00
R9015:Or8g30 UTSW 9 39,230,019 (GRCm39) missense probably damaging 1.00
R9255:Or8g30 UTSW 9 39,230,487 (GRCm39) missense probably benign 0.00
R9624:Or8g30 UTSW 9 39,230,848 (GRCm39) missense probably benign 0.04
R9790:Or8g30 UTSW 9 39,230,815 (GRCm39) missense probably benign 0.00
R9791:Or8g30 UTSW 9 39,230,815 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCTATGGCCATAAGCATTC -3'
(R):5'- TTACAGCCTTCATCAGTGAGTTTG -3'

Sequencing Primer
(F):5'- GGCCATAAGCATTCATGTTATCC -3'
(R):5'- CATCAGTGAGTTTGGTGGACC -3'
Posted On 2016-06-06