Incidental Mutation 'R7145:Or8k30'
ID 553688
Institutional Source Beutler Lab
Gene Symbol Or8k30
Ensembl Gene ENSMUSG00000060742
Gene Name olfactory receptor family 8 subfamily K member 30
Synonyms MOR189-2, GA_x6K02T2Q125-47993761-47994702, Olfr1076
MMRRC Submission 045223-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R7145 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 86338805-86339746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86338872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 23 (L23P)
Ref Sequence ENSEMBL: ENSMUSP00000075612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076263]
AlphaFold A2AK60
Predicted Effect probably damaging
Transcript: ENSMUST00000076263
AA Change: L23P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075612
Gene: ENSMUSG00000060742
AA Change: L23P

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 4.6e-52 PFAM
Pfam:7tm_1 41 290 5e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,820 (GRCm39) Y1670H probably damaging Het
Abca12 T C 1: 71,346,212 (GRCm39) K886R possibly damaging Het
Adcy3 G A 12: 4,250,992 (GRCm39) E584K probably benign Het
Ano3 A T 2: 110,693,205 (GRCm39) V131D probably benign Het
Arhgdig C T 17: 26,418,337 (GRCm39) W215* probably null Het
Cad G T 5: 31,224,956 (GRCm39) W953L possibly damaging Het
Calhm2 T C 19: 47,124,080 (GRCm39) Y88C probably benign Het
Cdk5rap2 A T 4: 70,156,468 (GRCm39) D1681E probably benign Het
Cenpl T A 1: 160,910,482 (GRCm39) L143H possibly damaging Het
Cherp T C 8: 73,222,230 (GRCm39) K270E Het
Cmss1 A G 16: 57,131,718 (GRCm39) I136T probably benign Het
Col23a1 T C 11: 51,456,050 (GRCm39) probably null Het
Crnn C A 3: 93,055,689 (GRCm39) D158E probably damaging Het
Dnmt3a A T 12: 3,922,844 (GRCm39) Q149L probably benign Het
Dst T A 1: 34,228,963 (GRCm39) N2185K probably benign Het
Eif1ad18 G T 12: 88,050,597 (GRCm39) C44F probably benign Het
Elp2 T A 18: 24,737,126 (GRCm39) N25K probably benign Het
Ephb4 A T 5: 137,370,308 (GRCm39) D845V probably damaging Het
Esyt3 T C 9: 99,201,627 (GRCm39) T561A probably damaging Het
F3 G T 3: 121,525,235 (GRCm39) V159L probably damaging Het
Fam81a A T 9: 70,017,560 (GRCm39) D128E probably damaging Het
Flot1 T G 17: 36,135,835 (GRCm39) H155Q probably benign Het
Fut9 T A 4: 25,620,507 (GRCm39) K102N probably damaging Het
Gm6309 T C 5: 146,107,100 (GRCm39) Q82R possibly damaging Het
H13 A G 2: 152,522,992 (GRCm39) N102D probably damaging Het
Lamc2 C G 1: 153,006,518 (GRCm39) A878P possibly damaging Het
Lepr C T 4: 101,609,394 (GRCm39) T327I probably benign Het
Lrp2 A G 2: 69,285,152 (GRCm39) probably null Het
Ly86 A G 13: 37,560,986 (GRCm39) K116E probably damaging Het
Mapk8ip2 T A 15: 89,343,201 (GRCm39) F648I possibly damaging Het
Muc16 G A 9: 18,566,876 (GRCm39) T1881I unknown Het
Myh13 T G 11: 67,245,566 (GRCm39) S1069A probably benign Het
Myh4 T A 11: 67,151,054 (GRCm39) I1903N possibly damaging Het
Myo18b A T 5: 112,965,545 (GRCm39) L1341* probably null Het
Naa25 G T 5: 121,555,552 (GRCm39) probably null Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ncapg C T 5: 45,827,372 (GRCm39) A3V possibly damaging Het
Ncln T C 10: 81,324,086 (GRCm39) H481R probably benign Het
Nek4 C A 14: 30,704,305 (GRCm39) Q607K probably damaging Het
Neo1 T C 9: 58,796,462 (GRCm39) Y1182C probably damaging Het
Npnt T C 3: 132,615,692 (GRCm39) N165S probably benign Het
Or2l5 C G 16: 19,333,649 (GRCm39) V246L probably damaging Het
Or4p22 C T 2: 88,317,721 (GRCm39) S215L probably damaging Het
Or8b8 A G 9: 37,808,859 (GRCm39) H53R probably benign Het
Otulin T C 15: 27,608,856 (GRCm39) Y229C probably damaging Het
Palld A T 8: 61,985,051 (GRCm39) D1071E unknown Het
Pcdhb20 T C 18: 37,638,142 (GRCm39) S223P probably damaging Het
Pcdhga6 T A 18: 37,840,781 (GRCm39) I167N probably damaging Het
Pcdhgb4 A G 18: 37,854,843 (GRCm39) N413D probably benign Het
Pcdhgb8 T A 18: 37,896,050 (GRCm39) Y373* probably null Het
Plxna2 G T 1: 194,331,830 (GRCm39) V419L probably benign Het
Rpgrip1l A T 8: 91,959,434 (GRCm39) probably null Het
Rsrc2 A G 5: 123,877,630 (GRCm39) probably benign Het
Scaper C T 9: 55,819,395 (GRCm39) D107N unknown Het
Scgb2b3 T A 7: 31,059,573 (GRCm39) Y67F probably benign Het
Scn5a G A 9: 119,315,437 (GRCm39) T1757I probably damaging Het
Sgo2b G A 8: 64,381,218 (GRCm39) P538L probably damaging Het
Slc9a3 A G 13: 74,298,797 (GRCm39) K72R probably damaging Het
Smchd1 T A 17: 71,685,202 (GRCm39) T1409S probably benign Het
Stab1 A T 14: 30,867,030 (GRCm39) probably null Het
Sult2b1 T C 7: 45,383,056 (GRCm39) E242G probably damaging Het
Tcaf1 A T 6: 42,663,687 (GRCm39) H64Q probably damaging Het
Tle6 T C 10: 81,435,910 (GRCm39) T2A possibly damaging Het
Tmem115 T C 9: 107,412,285 (GRCm39) V203A probably benign Het
Tmem45b G A 9: 31,340,337 (GRCm39) T108I probably damaging Het
Tmf1 A T 6: 97,153,079 (GRCm39) D331E probably damaging Het
Txndc9 T C 1: 38,029,377 (GRCm39) Y157C probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r27 C A 6: 124,168,711 (GRCm39) R806S probably benign Het
Vmn2r59 G A 7: 41,695,188 (GRCm39) A408V probably damaging Het
Ythdc1 T C 5: 86,964,467 (GRCm39) V92A probably benign Het
Other mutations in Or8k30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Or8k30 APN 2 86,339,513 (GRCm39) missense possibly damaging 0.91
IGL03157:Or8k30 APN 2 86,339,367 (GRCm39) missense possibly damaging 0.95
ANU05:Or8k30 UTSW 2 86,339,513 (GRCm39) missense possibly damaging 0.91
IGL02802:Or8k30 UTSW 2 86,339,290 (GRCm39) missense probably benign
R0325:Or8k30 UTSW 2 86,339,549 (GRCm39) missense probably benign 0.14
R0384:Or8k30 UTSW 2 86,339,727 (GRCm39) missense possibly damaging 0.80
R1164:Or8k30 UTSW 2 86,339,028 (GRCm39) missense probably damaging 1.00
R1618:Or8k30 UTSW 2 86,339,193 (GRCm39) missense probably damaging 1.00
R1915:Or8k30 UTSW 2 86,339,343 (GRCm39) missense probably damaging 1.00
R1999:Or8k30 UTSW 2 86,339,089 (GRCm39) nonsense probably null
R2093:Or8k30 UTSW 2 86,339,587 (GRCm39) missense probably damaging 0.99
R3824:Or8k30 UTSW 2 86,339,367 (GRCm39) missense possibly damaging 0.95
R4259:Or8k30 UTSW 2 86,339,343 (GRCm39) missense probably damaging 1.00
R4928:Or8k30 UTSW 2 86,339,469 (GRCm39) missense probably damaging 1.00
R4981:Or8k30 UTSW 2 86,339,171 (GRCm39) missense probably damaging 1.00
R4998:Or8k30 UTSW 2 86,339,699 (GRCm39) missense probably benign 0.00
R5783:Or8k30 UTSW 2 86,338,982 (GRCm39) missense probably damaging 1.00
R6384:Or8k30 UTSW 2 86,339,381 (GRCm39) missense probably benign
R6549:Or8k30 UTSW 2 86,339,726 (GRCm39) missense probably benign 0.00
R6893:Or8k30 UTSW 2 86,339,136 (GRCm39) missense probably damaging 1.00
R7157:Or8k30 UTSW 2 86,339,369 (GRCm39) missense probably damaging 0.99
R7555:Or8k30 UTSW 2 86,339,691 (GRCm39) missense probably damaging 0.99
R7611:Or8k30 UTSW 2 86,339,397 (GRCm39) missense possibly damaging 0.84
R7640:Or8k30 UTSW 2 86,339,287 (GRCm39) missense possibly damaging 0.90
R7724:Or8k30 UTSW 2 86,338,949 (GRCm39) missense probably damaging 1.00
R7965:Or8k30 UTSW 2 86,338,815 (GRCm39) missense probably benign
R8367:Or8k30 UTSW 2 86,339,025 (GRCm39) missense probably damaging 0.97
R9383:Or8k30 UTSW 2 86,338,854 (GRCm39) missense probably damaging 0.97
R9432:Or8k30 UTSW 2 86,338,914 (GRCm39) missense probably benign 0.06
R9695:Or8k30 UTSW 2 86,339,100 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCTCTCAATATAGTTAGGAGAAGC -3'
(R):5'- GGTCCCACAGCTGTTGAATAAC -3'

Sequencing Primer
(F):5'- TGATTTAAGTTAATGTTGGACAGGAC -3'
(R):5'- CAGCTGTTGAATAACCAAGGTC -3'
Posted On 2019-05-15