Incidental Mutation 'R1618:Or8k30'
ID 174407
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 039655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R1618 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86338805-86339746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 86339193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 130 (L130R)
Ref Sequence ENSEMBL: ENSMUSP00000075612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076263]
AlphaFold A2AK60
Predicted Effect probably damaging
Transcript: ENSMUST00000076263
AA Change: L130R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075612
Gene: ENSMUSG00000060742
AA Change: L130R

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 4.6e-52 PFAM
Pfam:7tm_1 41 290 5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217442
Meta Mutation Damage Score 0.3215 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency 96% (79/82)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik T C 14: 105,736,380 (GRCm39) noncoding transcript Het
Abca8b A T 11: 109,840,714 (GRCm39) probably benign Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Anln A G 9: 22,262,214 (GRCm39) probably null Het
Anpep T G 7: 79,485,165 (GRCm39) Q607P probably benign Het
Arl13b A C 16: 62,633,640 (GRCm39) probably null Het
Asxl3 T C 18: 22,650,044 (GRCm39) S678P probably damaging Het
Atf6b C T 17: 34,866,702 (GRCm39) Q58* probably null Het
Camsap3 A G 8: 3,648,740 (GRCm39) T20A probably benign Het
Cfap46 T A 7: 139,232,726 (GRCm39) M782L probably benign Het
Cngb3 T C 4: 19,364,260 (GRCm39) S155P probably benign Het
Coro1a T C 7: 126,300,719 (GRCm39) I162V probably benign Het
Cry1 T A 10: 84,982,318 (GRCm39) I343F probably damaging Het
Csnk1e A T 15: 79,309,050 (GRCm39) M292K probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cul9 A T 17: 46,836,818 (GRCm39) M1069K probably benign Het
Cyp2c67 C A 19: 39,631,708 (GRCm39) probably benign Het
Dnah11 T C 12: 117,979,200 (GRCm39) I2633V probably damaging Het
Eif4g3 C A 4: 137,933,369 (GRCm39) D1731E probably damaging Het
Epb41l4b T C 4: 57,032,204 (GRCm39) T592A probably benign Het
Evi5 T C 5: 107,946,984 (GRCm39) probably benign Het
Exo1 T A 1: 175,728,952 (GRCm39) M672K probably benign Het
Fcho1 T C 8: 72,163,047 (GRCm39) S661G probably damaging Het
Fnip2 A G 3: 79,415,475 (GRCm39) Y188H possibly damaging Het
Foxb1 T C 9: 69,667,293 (GRCm39) D79G probably damaging Het
Fyco1 T C 9: 123,658,346 (GRCm39) Y610C probably damaging Het
Gm3095 C A 14: 15,170,440 (GRCm39) N96K probably damaging Het
Gm3095 T A 14: 15,170,441 (GRCm39) Y97N probably damaging Het
Gmfb A T 14: 47,049,237 (GRCm39) L128* probably null Het
Gprc5c T A 11: 114,755,220 (GRCm39) V299D possibly damaging Het
Hsfy2 C T 1: 56,676,388 (GRCm39) V50I probably benign Het
Hspa12b A C 2: 130,982,849 (GRCm39) K236Q probably benign Het
Impg2 A G 16: 56,080,221 (GRCm39) Y566C probably damaging Het
Itpr3 A C 17: 27,335,581 (GRCm39) probably null Het
Kprp G A 3: 92,732,783 (GRCm39) T89I probably damaging Het
Lcmt2 T C 2: 120,969,133 (GRCm39) E650G probably damaging Het
Lrch1 T C 14: 75,051,144 (GRCm39) D331G probably damaging Het
Mroh9 T A 1: 162,852,110 (GRCm39) I860F probably benign Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myt1l A G 12: 29,877,396 (GRCm39) D349G unknown Het
Ndufs2 T C 1: 171,073,690 (GRCm39) T31A probably benign Het
Ndufs3 A T 2: 90,729,016 (GRCm39) S157T probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Noct T A 3: 51,155,251 (GRCm39) S6R probably damaging Het
Npas2 T A 1: 39,339,808 (GRCm39) H119Q probably damaging Het
Oprl1 A T 2: 181,360,646 (GRCm39) Y207F probably benign Het
Or2n1e G A 17: 38,586,557 (GRCm39) probably null Het
Or4c11 A G 2: 88,695,871 (GRCm39) probably null Het
Palm3 G T 8: 84,756,291 (GRCm39) S601I possibly damaging Het
Plscr1 T A 9: 92,148,548 (GRCm39) C163S probably damaging Het
Ptprk A T 10: 28,369,166 (GRCm39) M713L probably benign Het
Rdm1 A G 11: 101,519,217 (GRCm39) D72G possibly damaging Het
Reln T C 5: 22,265,366 (GRCm39) D442G probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Sbno1 T C 5: 124,542,279 (GRCm39) Y338C probably damaging Het
Seh1l T G 18: 67,921,806 (GRCm39) V222G probably damaging Het
Septin12 T C 16: 4,814,340 (GRCm39) K43R probably damaging Het
Slc25a18 A C 6: 120,763,303 (GRCm39) probably benign Het
Slc33a1 T C 3: 63,855,650 (GRCm39) T332A possibly damaging Het
Slc35d3 A G 10: 19,724,909 (GRCm39) S316P probably benign Het
Spmip7 A G 11: 11,438,641 (GRCm39) probably benign Het
Srrm2 T A 17: 24,037,906 (GRCm39) probably benign Het
Srsf12 C T 4: 33,230,974 (GRCm39) S156L probably damaging Het
Syce3 A G 15: 89,274,606 (GRCm39) M49T probably benign Het
Tjp3 T C 10: 81,112,094 (GRCm39) probably benign Het
Tnks G T 8: 35,342,430 (GRCm39) N373K probably damaging Het
Togaram1 A G 12: 65,013,847 (GRCm39) N366S possibly damaging Het
Trpm1 G A 7: 63,890,283 (GRCm39) R962H probably damaging Het
Trpm6 A T 19: 18,854,995 (GRCm39) M1885L possibly damaging Het
Tshz3 A G 7: 36,471,221 (GRCm39) D1070G probably damaging Het
Ush2a T C 1: 188,546,421 (GRCm39) M3399T probably benign Het
Utp15 G A 13: 98,393,695 (GRCm39) T196I probably benign Het
Vmn1r168 T C 7: 23,240,725 (GRCm39) I194T probably benign Het
Vmn2r73 C T 7: 85,525,120 (GRCm39) W9* probably null Het
Wdr17 T C 8: 55,092,930 (GRCm39) Y1076C probably damaging Het
Zan T C 5: 137,382,092 (GRCm39) T5152A unknown Het
Zbtb46 A T 2: 181,066,042 (GRCm39) V36E possibly damaging Het
Zfp558 T C 9: 18,380,579 (GRCm39) I9M possibly damaging Het
Zscan2 T A 7: 80,525,534 (GRCm39) Y418* probably null 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
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
R7145:Or8k30 UTSW 2 86,338,872 (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'- TCTCAGACACCTCGCTACTACTGAC -3'
(R):5'- CTGCCCTCAGCAGAGTTCATCTTG -3'

Sequencing Primer
(F):5'- ACTGACCTTGGTTATTCAACAGC -3'
(R):5'- CCTTTTTATTTGAGCAGAGCAGAG -3'
Posted On 2014-04-24