Incidental Mutation 'ANU05:Or8k30'
ID 262471
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # ANU05
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 86338805-86339746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 86339513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 237 (A237T)
Ref Sequence ENSEMBL: ENSMUSP00000075612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076263]
AlphaFold A2AK60
Predicted Effect possibly damaging
Transcript: ENSMUST00000076263
AA Change: A237T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075612
Gene: ENSMUSG00000060742
AA Change: A237T

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I 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
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
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'- ATGTCGCCATCTGTAAACCACTCC -3'
(R):5'- GCTGTAGATCAAGGGATTCAACATGGG -3'

Sequencing Primer
(F):5'- GTCAAAAAGAGTATGTTGGCTCCTG -3'
(R):5'- GGGATTCAACATGGGGATTATTAAG -3'
Posted On 2015-02-04