Incidental Mutation 'R7078:Or12k8'
ID 549317
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R7078 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 36974790-36975758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36975608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 51 (S51P)
Ref Sequence ENSEMBL: ENSMUSP00000149770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100145] [ENSMUST00000214969] [ENSMUST00000216663]
AlphaFold Q8VF16
Predicted Effect possibly damaging
Transcript: ENSMUST00000100145
AA Change: S51P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097723
Gene: ENSMUSG00000075378
AA Change: S51P

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.5e-44 PFAM
Pfam:7tm_1 41 289 2.3e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214969
AA Change: S51P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216663
AA Change: S51P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G A 11: 84,154,138 (GRCm39) R953Q possibly damaging Het
Aldh1a1 A T 19: 20,579,434 (GRCm39) H20L probably benign Het
Ankrd52 T A 10: 128,219,526 (GRCm39) C487S probably benign Het
Ap1s3 T C 1: 79,602,845 (GRCm39) E54G probably benign Het
Arglu1 A C 8: 8,717,361 (GRCm39) M236R probably benign Het
Baz1b T A 5: 135,246,293 (GRCm39) F581I probably benign Het
Bbox1 T G 2: 110,122,884 (GRCm39) D135A probably benign Het
Bcl2l14 T A 6: 134,400,786 (GRCm39) V69E probably damaging Het
Brinp3 C T 1: 146,390,627 (GRCm39) Q58* probably null Het
Ccnb1ip1 T A 14: 51,029,724 (GRCm39) K113* probably null Het
Cep128 T C 12: 91,200,878 (GRCm39) I830M probably damaging Het
Ces2f C T 8: 105,681,284 (GRCm39) T541I probably damaging Het
Chsy3 C A 18: 59,309,149 (GRCm39) P134Q possibly damaging Het
Cobl T G 11: 12,328,271 (GRCm39) T112P probably damaging Het
Cplane2 A T 4: 140,947,159 (GRCm39) Y180F probably benign Het
Dcc T A 18: 71,680,469 (GRCm39) K589I probably benign Het
Depdc1b T A 13: 108,523,505 (GRCm39) I460K possibly damaging Het
Dlst T C 12: 85,157,705 (GRCm39) F12S probably benign Het
Dnah1 G C 14: 31,019,067 (GRCm39) F1342L probably damaging Het
Dtnb A G 12: 3,798,480 (GRCm39) Q438R possibly damaging Het
Dusp4 C A 8: 35,275,065 (GRCm39) S61R probably damaging Het
E130308A19Rik A G 4: 59,737,688 (GRCm39) Y433C probably damaging Het
Ebf2 T C 14: 67,661,407 (GRCm39) S512P probably benign Het
Elapor2 A G 5: 9,460,709 (GRCm39) N210S probably benign Het
Eya1 C T 1: 14,301,636 (GRCm39) probably null Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Fzr1 T A 10: 81,204,463 (GRCm39) D379V probably damaging Het
Gk2 T A 5: 97,604,195 (GRCm39) E214D probably benign Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Gmnc A T 16: 26,779,272 (GRCm39) V251E probably benign Het
Golga3 A G 5: 110,340,953 (GRCm39) Q549R probably damaging Het
Gsdmd T G 15: 75,736,204 (GRCm39) V111G probably damaging Het
Gtf3c1 T C 7: 125,244,914 (GRCm39) T1707A possibly damaging Het
Gucy2c C T 6: 136,674,937 (GRCm39) V1049M probably benign Het
Gucy2g A G 19: 55,229,583 (GRCm39) V29A probably damaging Het
Hecw1 A T 13: 14,609,044 (GRCm39) M1K probably null Het
Hmcn1 T C 1: 150,736,118 (GRCm39) D117G probably damaging Het
Ifnab T A 4: 88,609,350 (GRCm39) T39S possibly damaging Het
Lcorl A G 5: 45,904,566 (GRCm39) Y171H probably damaging Het
Ly6g6c C T 17: 35,288,437 (GRCm39) P103L probably damaging Het
Macf1 T G 4: 123,325,936 (GRCm39) E5189A probably damaging Het
Mapkap1 A G 2: 34,453,151 (GRCm39) E348G probably damaging Het
Med25 G T 7: 44,534,325 (GRCm39) A280D probably damaging Het
Mep1b C A 18: 21,233,108 (GRCm39) A703E probably benign Het
Morn5 T A 2: 35,944,990 (GRCm39) N71K probably benign Het
Mtmr10 T A 7: 63,970,375 (GRCm39) Y373N possibly damaging Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Ncbp1 G C 4: 46,155,756 (GRCm39) V302L probably benign Het
Notch4 A G 17: 34,801,520 (GRCm39) T1123A possibly damaging Het
Nudt18 T A 14: 70,816,452 (GRCm39) M88K possibly damaging Het
Or5b100-ps1 A T 19: 12,994,097 (GRCm39) D170V possibly damaging Het
Or6d12 T A 6: 116,493,632 (GRCm39) L298Q probably damaging Het
Or8g4 A T 9: 39,661,787 (GRCm39) Y35F possibly damaging Het
Pdcd6ip T C 9: 113,488,953 (GRCm39) N694S probably benign Het
Pecam1 T A 11: 106,579,773 (GRCm39) T430S probably benign Het
Plaa T G 4: 94,462,288 (GRCm39) T530P probably benign Het
Ppfia3 G T 7: 45,010,019 (GRCm39) Q95K probably damaging Het
Ppp4r2 T C 6: 100,843,274 (GRCm39) S331P probably benign Het
Prg4 T C 1: 150,334,014 (GRCm39) T117A possibly damaging Het
Prrc2b A T 2: 32,103,531 (GRCm39) D1003V probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rasef T C 4: 73,698,626 (GRCm39) I12V probably benign Het
Robo2 T G 16: 74,149,504 (GRCm39) Y108S probably damaging Het
Rp1 T A 1: 4,277,014 (GRCm39) E762V unknown Het
Rsrc1 T C 3: 66,901,987 (GRCm39) S46P unknown Het
Rttn A T 18: 89,027,546 (GRCm39) T554S probably benign Het
Sall3 C T 18: 81,017,314 (GRCm39) V205M probably damaging Het
Scn3a C A 2: 65,327,944 (GRCm39) V849L probably damaging Het
Sec23a A G 12: 59,039,069 (GRCm39) C277R probably benign Het
Sf3b3 C T 8: 111,539,639 (GRCm39) A1075T possibly damaging Het
Sfxn5 T C 6: 85,309,366 (GRCm39) D113G unknown Het
Slc22a22 C T 15: 57,126,876 (GRCm39) M64I probably benign Het
Slc5a11 C T 7: 122,857,669 (GRCm39) P253S probably damaging Het
Smarcd3 A G 5: 24,798,067 (GRCm39) F449S probably damaging Het
Sspo C T 6: 48,437,313 (GRCm39) T1357M probably damaging Het
Styx C T 14: 45,609,873 (GRCm39) T179I probably benign Het
Syt7 A T 19: 10,412,963 (GRCm39) T297S probably benign Het
Tbx19 T A 1: 164,988,135 (GRCm39) probably benign Het
Tg T A 15: 66,545,392 (GRCm39) V149E probably damaging Het
Tgfbr3l T A 8: 4,299,238 (GRCm39) L35Q probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem219 T A 7: 126,490,975 (GRCm39) T161S probably damaging Het
Tox2 T A 2: 163,162,501 (GRCm39) L68H Het
Trim5 T A 7: 103,927,681 (GRCm39) D153V possibly damaging Het
Ttn T C 2: 76,580,651 (GRCm39) Y23414C probably damaging Het
Ttn A T 2: 76,582,153 (GRCm39) N22913K probably damaging Het
Ubr2 A C 17: 47,266,779 (GRCm39) M1124R possibly damaging Het
Vmn2r75 A G 7: 85,815,568 (GRCm39) S99P probably damaging Het
Wdr83 T C 8: 85,802,680 (GRCm39) D219G probably damaging Het
Wdr90 C T 17: 26,068,623 (GRCm39) V1285M probably damaging Het
Zmynd15 A T 11: 70,351,581 (GRCm39) L62F probably damaging 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
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
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'- TGCCCACTGTCATAAAGGAAAAG -3'
(R):5'- GGCTGGGCTCTGATATCTTC -3'

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