Incidental Mutation 'R8007:Or12k8'
ID 616665
Institutional Source Beutler Lab
Gene Symbol Or12k8
Ensembl Gene ENSMUSG00000075378
Gene Name olfactory receptor family 12 subfamily K member 8
Synonyms GA_x6K02T2NLDC-33777519-33776551, MOR159-3, Olfr361
MMRRC Submission 046047-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R8007 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 36974790-36975758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36974855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 302 (R302W)
Ref Sequence ENSEMBL: ENSMUSP00000149770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100145] [ENSMUST00000214969] [ENSMUST00000216663]
AlphaFold Q8VF16
Predicted Effect probably damaging
Transcript: ENSMUST00000100145
AA Change: R302W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097723
Gene: ENSMUSG00000075378
AA Change: R302W

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.5e-44 PFAM
Pfam:7tm_1 41 289 2.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214969
AA Change: R302W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000216663
AA Change: R302W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,647,845 (GRCm39) probably benign Het
A430033K04Rik T C 5: 138,644,901 (GRCm39) I262T probably benign Het
Acacb A G 5: 114,356,935 (GRCm39) R1289G probably damaging Het
Adgre4 A T 17: 56,121,233 (GRCm39) H433L probably damaging Het
Adgrv1 A G 13: 81,431,585 (GRCm39) F5948L probably benign Het
Adtrp A T 13: 41,969,707 (GRCm39) D97E probably damaging Het
Anapc5 T C 5: 122,929,963 (GRCm39) T543A probably benign Het
Ank2 G C 3: 126,730,096 (GRCm39) probably benign Het
Cacna2d4 C T 6: 119,289,405 (GRCm39) A813V probably benign Het
Cc2d2a T A 5: 43,863,442 (GRCm39) Y684N possibly damaging Het
Cenpf G A 1: 189,379,144 (GRCm39) P35L Het
Chtf18 A G 17: 25,944,508 (GRCm39) F281L probably damaging Het
Clstn1 T C 4: 149,716,305 (GRCm39) V257A probably damaging Het
Cnmd A T 14: 79,875,406 (GRCm39) V338E probably damaging Het
Col6a3 A C 1: 90,705,179 (GRCm39) F2848V unknown Het
Corin T C 5: 72,473,446 (GRCm39) S888G probably damaging Het
Ctss A T 3: 95,457,465 (GRCm39) S309C probably null Het
Dmxl2 G A 9: 54,290,975 (GRCm39) Q2492* probably null Het
Exoc7 C T 11: 116,197,465 (GRCm39) R12Q possibly damaging Het
F12 A G 13: 55,566,265 (GRCm39) I509T probably damaging Het
F13b A G 1: 139,434,680 (GRCm39) K149E probably benign Het
Fasn A G 11: 120,700,353 (GRCm39) I2159T probably benign Het
Fgfr2 A T 7: 129,765,719 (GRCm39) Y831* probably null Het
Foxp1 A T 6: 98,918,595 (GRCm39) S514R unknown Het
Gm11569 A G 11: 99,689,688 (GRCm39) S4P unknown Het
Gria4 T C 9: 4,503,740 (GRCm39) probably benign Het
Hnrnpul2 T A 19: 8,798,179 (GRCm39) probably null Het
Ibtk A T 9: 85,572,770 (GRCm39) D1257E probably benign Het
Ip6k2 T C 9: 108,682,955 (GRCm39) V355A probably benign Het
Kcnd2 G A 6: 21,217,073 (GRCm39) R259H probably damaging Het
Kcnj2 A C 11: 110,963,884 (GRCm39) E425D probably benign Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lgi2 C A 5: 52,723,375 (GRCm39) A25S probably benign Het
Lrp2 T C 2: 69,336,849 (GRCm39) T1308A probably benign Het
Ly6g2 A G 15: 75,088,552 (GRCm39) T7A probably benign Het
Matn2 A T 15: 34,426,315 (GRCm39) N609I probably benign Het
Mocs2 T A 13: 114,957,409 (GRCm39) S9T possibly damaging Het
Nebl T A 2: 17,375,300 (GRCm39) I102F Het
Nudt19 A G 7: 35,255,045 (GRCm39) V62A probably benign Het
Or10u4 T A 10: 129,801,744 (GRCm39) D269V possibly damaging Het
Or4a68 C T 2: 89,270,684 (GRCm39) Het
Or4k42 A T 2: 111,320,068 (GRCm39) V145E probably damaging Het
Pacrg A G 17: 11,058,919 (GRCm39) probably benign Het
Pappa2 A G 1: 158,609,874 (GRCm39) I1529T probably damaging Het
Pcdhga7 A T 18: 37,849,946 (GRCm39) H651L probably benign Het
Plch2 A G 4: 155,087,288 (GRCm39) L321P probably damaging Het
Ppargc1b A T 18: 61,443,565 (GRCm39) S549T possibly damaging Het
Rtel1 T A 2: 180,976,767 (GRCm39) N254K probably damaging Het
Rtl1 T C 12: 109,558,060 (GRCm39) N1260D possibly damaging Het
Samd7 T A 3: 30,812,531 (GRCm39) W324R probably damaging Het
Serpinb9e A G 13: 33,435,605 (GRCm39) I13V probably benign Het
Skint10 A G 4: 112,568,865 (GRCm39) L284S possibly damaging Het
Slc25a38 T A 9: 119,951,208 (GRCm39) I247K possibly damaging Het
Smarce1 G C 11: 99,115,876 (GRCm39) N48K possibly damaging Het
Stmn4 T G 14: 66,593,032 (GRCm39) probably benign Het
Stt3a G C 9: 36,653,065 (GRCm39) T539R probably damaging Het
Tab1 G A 15: 80,042,969 (GRCm39) V388I possibly damaging Het
Tcf12 G C 9: 71,841,905 (GRCm39) probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Trp53inp1 T C 4: 11,164,525 (GRCm39) F23S probably damaging Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Yae1d1 G A 13: 18,164,329 (GRCm39) S96L probably damaging Het
Zfp142 T C 1: 74,610,655 (GRCm39) I1047V probably benign Het
Other mutations in Or12k8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Or12k8 APN 2 36,975,407 (GRCm39) missense possibly damaging 0.94
IGL02210:Or12k8 APN 2 36,975,631 (GRCm39) missense possibly damaging 0.54
IGL03180:Or12k8 APN 2 36,975,722 (GRCm39) missense possibly damaging 0.58
R0571:Or12k8 UTSW 2 36,975,346 (GRCm39) missense probably benign 0.00
R1715:Or12k8 UTSW 2 36,975,188 (GRCm39) missense probably damaging 1.00
R1853:Or12k8 UTSW 2 36,975,232 (GRCm39) missense probably damaging 1.00
R2403:Or12k8 UTSW 2 36,974,986 (GRCm39) missense probably benign 0.34
R3009:Or12k8 UTSW 2 36,975,089 (GRCm39) missense probably benign 0.00
R3713:Or12k8 UTSW 2 36,975,517 (GRCm39) missense possibly damaging 0.73
R4355:Or12k8 UTSW 2 36,974,942 (GRCm39) missense probably benign 0.44
R4476:Or12k8 UTSW 2 36,975,073 (GRCm39) missense probably damaging 1.00
R5191:Or12k8 UTSW 2 36,974,990 (GRCm39) missense probably benign 0.00
R5387:Or12k8 UTSW 2 36,975,731 (GRCm39) missense possibly damaging 0.58
R5529:Or12k8 UTSW 2 36,974,921 (GRCm39) missense possibly damaging 0.67
R5891:Or12k8 UTSW 2 36,974,990 (GRCm39) missense probably benign 0.00
R7078:Or12k8 UTSW 2 36,975,608 (GRCm39) missense possibly damaging 0.93
R7208:Or12k8 UTSW 2 36,975,670 (GRCm39) missense probably benign 0.26
R7793:Or12k8 UTSW 2 36,974,933 (GRCm39) missense possibly damaging 0.81
R8843:Or12k8 UTSW 2 36,975,307 (GRCm39) missense probably damaging 1.00
R8970:Or12k8 UTSW 2 36,975,478 (GRCm39) missense probably benign 0.00
R9155:Or12k8 UTSW 2 36,975,016 (GRCm39) missense probably benign 0.01
R9595:Or12k8 UTSW 2 36,975,204 (GRCm39) missense possibly damaging 0.78
Z1176:Or12k8 UTSW 2 36,975,648 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAACCAATGGAGTGTTGATAGC -3'
(R):5'- ATAGCCCACATGCACTCAGTTG -3'

Sequencing Primer
(F):5'- GGAGTGTTGATAGCAAAAACTATTCC -3'
(R):5'- AGAAAGCTCTGTCCACTTGTAGC -3'
Posted On 2020-01-23