Incidental Mutation 'R8970:Or12k8'
ID 682989
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 068804-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R8970 (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 36975478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 94 (Y94F)
Ref Sequence ENSEMBL: ENSMUSP00000149770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100145] [ENSMUST00000214969] [ENSMUST00000216663]
AlphaFold Q8VF16
Predicted Effect probably benign
Transcript: ENSMUST00000100145
AA Change: Y94F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097723
Gene: ENSMUSG00000075378
AA Change: Y94F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.5e-44 PFAM
Pfam:7tm_1 41 289 2.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214969
AA Change: Y94F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000216663
AA Change: Y94F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,545,726 (GRCm39) V467A probably damaging Het
Abca2 T C 2: 25,335,728 (GRCm39) V2113A probably benign Het
Adam10 A G 9: 70,655,458 (GRCm39) N309D probably benign Het
Adcy1 T A 11: 7,099,983 (GRCm39) W698R probably benign Het
Adnp T C 2: 168,031,290 (GRCm39) N7S possibly damaging Het
Ankar A G 1: 72,691,496 (GRCm39) probably null Het
Ankrd34b T A 13: 92,575,590 (GRCm39) I274K probably benign Het
Apela A T 8: 65,489,601 (GRCm39) L6H unknown Het
Ash1l T C 3: 88,976,307 (GRCm39) I2629T probably benign Het
Auts2 C T 5: 132,287,791 (GRCm39) R64K possibly damaging Het
Bms1 A G 6: 118,369,292 (GRCm39) V1003A possibly damaging Het
C2cd3 T C 7: 100,068,971 (GRCm39) V555A Het
C2cd6 T A 1: 59,108,895 (GRCm39) H252L possibly damaging Het
Capn3 G T 2: 120,294,566 (GRCm39) K71N possibly damaging Het
Chct1 A G 11: 85,069,246 (GRCm39) E198G probably benign Het
Clec2l C A 6: 38,657,122 (GRCm39) T195K possibly damaging Het
Col27a1 T C 4: 63,134,105 (GRCm39) S15P unknown Het
Coro2b T C 9: 62,333,809 (GRCm39) probably benign Het
Crocc2 A T 1: 93,116,687 (GRCm39) T233S probably benign Het
Ddb1 A G 19: 10,585,808 (GRCm39) Q174R probably benign Het
Denr C T 5: 124,055,279 (GRCm39) P48L probably damaging Het
Dusp26 A G 8: 31,584,232 (GRCm39) Y113C probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Evi5l A G 8: 4,236,154 (GRCm39) probably benign Het
Fgf2 G T 3: 37,458,767 (GRCm39) V96F probably benign Het
Gpr139 A G 7: 118,744,034 (GRCm39) Y184H probably damaging Het
Gtf3c1 A C 7: 125,272,227 (GRCm39) probably benign Het
Gucy1b2 A G 14: 62,656,664 (GRCm39) V231A possibly damaging Het
Gucy2g T C 19: 55,191,478 (GRCm39) E991G possibly damaging Het
Gvin1 A T 7: 105,762,647 (GRCm39) H607Q probably damaging Het
Hal T C 10: 93,325,036 (GRCm39) V15A probably damaging Het
Hes3 A G 4: 152,376,036 (GRCm39) probably null Het
Il11 A G 7: 4,779,181 (GRCm39) L72P probably damaging Het
Iqsec3 T A 6: 121,366,528 (GRCm39) I785F probably damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Lrpprc T A 17: 85,074,483 (GRCm39) T475S probably damaging Het
Lrrc63 T A 14: 75,362,631 (GRCm39) T300S unknown Het
Lsamp A T 16: 41,994,528 (GRCm39) I331F possibly damaging Het
Ltn1 A T 16: 87,212,926 (GRCm39) I545K probably benign Het
Mab21l4 G C 1: 93,087,533 (GRCm39) P107A probably benign Het
Med13l G A 5: 118,883,164 (GRCm39) R1341H probably damaging Het
Msh4 T A 3: 153,575,369 (GRCm39) K669* probably null Het
Myo10 T A 15: 25,803,467 (GRCm39) L1558H possibly damaging Het
Ncbp1 G A 4: 46,170,023 (GRCm39) V699M probably damaging Het
Or56b1b A G 7: 108,164,997 (GRCm39) S2P probably benign Het
Or5b114-ps1 T G 19: 13,353,117 (GRCm39) S264A unknown Het
Or5b99 T A 19: 12,976,353 (GRCm39) M1K probably null Het
Parpbp G A 10: 87,962,186 (GRCm39) R165W probably damaging Het
Pcdhgb7 T A 18: 37,885,631 (GRCm39) M267K probably benign Het
Pitx3 T A 19: 46,125,540 (GRCm39) H68L possibly damaging Het
Ppfia4 A G 1: 134,252,289 (GRCm39) L395P probably damaging Het
Pramel42 T C 5: 94,685,645 (GRCm39) V435A probably benign Het
Ptprh T C 7: 4,583,944 (GRCm39) D216G possibly damaging Het
Ptprs A G 17: 56,730,353 (GRCm39) S1174P possibly damaging Het
Shf A G 2: 122,187,654 (GRCm39) S51P probably benign Het
Sinhcaf A T 6: 148,834,624 (GRCm39) F2I probably damaging Het
Slc19a3 A T 1: 83,000,822 (GRCm39) L65Q probably damaging Het
Srgap2 G A 1: 131,226,104 (GRCm39) L390F Het
Srpk1 T C 17: 28,818,493 (GRCm39) T448A probably benign Het
Stat5a A G 11: 100,771,353 (GRCm39) D612G probably benign Het
Supt4a A T 11: 87,633,645 (GRCm39) E67V probably benign Het
Tango6 T A 8: 107,415,871 (GRCm39) C231S probably damaging Het
Th A G 7: 142,446,796 (GRCm39) L490P probably damaging Het
Tpcn1 C T 5: 120,682,518 (GRCm39) G497S probably damaging Het
Trim10 A T 17: 37,184,168 (GRCm39) I254F probably benign Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn2r124 G T 17: 18,294,439 (GRCm39) R842L probably benign Het
Vmn2r56 T C 7: 12,428,632 (GRCm39) R545G probably damaging Het
Vmn2r84 T C 10: 130,222,244 (GRCm39) T659A probably damaging Het
Vps13c T C 9: 67,852,803 (GRCm39) M2361T probably benign Het
Zfp217 T C 2: 169,956,997 (GRCm39) D667G possibly damaging Het
Zfp952 T G 17: 33,221,810 (GRCm39) C96W probably benign Het
Zfp959 A G 17: 56,204,836 (GRCm39) Q291R possibly damaging Het
Zscan4-ps3 T C 7: 11,344,414 (GRCm39) V124A 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
R8007:Or12k8 UTSW 2 36,974,855 (GRCm39) missense probably damaging 1.00
R8843:Or12k8 UTSW 2 36,975,307 (GRCm39) missense probably damaging 1.00
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'- TGACCAACACACTGTACAGGAG -3'
(R):5'- GTCCTTATCATGTACCTGATGGC -3'

Sequencing Primer
(F):5'- GAGACTGTTAAGGCTGACCACC -3'
(R):5'- ATGGCAGTTTTGGGCAATACC -3'
Posted On 2021-10-11