Incidental Mutation 'R3944:Or8k40'
ID 307575
Institutional Source Beutler Lab
Gene Symbol Or8k40
Ensembl Gene ENSMUSG00000075172
Gene Name olfactory receptor family 8 subfamily K member 40
Synonyms MOR188-4, GA_x6K02T2Q125-48247345-48246404, Olfr1090
MMRRC Submission 040925-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R3944 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86584139-86585080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86584525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 186 (S186P)
Ref Sequence ENSEMBL: ENSMUSP00000149968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099875] [ENSMUST00000215991] [ENSMUST00000217043]
AlphaFold Q8VGA6
Predicted Effect probably benign
Transcript: ENSMUST00000099875
AA Change: S186P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097460
Gene: ENSMUSG00000075172
AA Change: S186P

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.4e-47 PFAM
Pfam:7tm_1 41 290 7.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215991
AA Change: S186P

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000217043
AA Change: S186P

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
6430548M08Rik T C 8: 120,879,241 (GRCm39) L213P probably damaging Het
Akap12 A G 10: 4,307,347 (GRCm39) K1491E probably benign Het
Akr1c12 T A 13: 4,329,339 (GRCm39) H6L probably benign Het
Ankrd50 C T 3: 38,506,645 (GRCm39) C251Y probably benign Het
Bltp1 A G 3: 37,084,210 (GRCm39) I3876V possibly damaging Het
Bltp2 T A 11: 78,160,350 (GRCm39) L603* probably null Het
Calu T C 6: 29,361,710 (GRCm39) S125P possibly damaging Het
Cdh10 A G 15: 18,964,335 (GRCm39) T166A probably benign Het
Clip1 T C 5: 123,755,892 (GRCm39) probably benign Het
Cntn4 T G 6: 106,595,375 (GRCm39) N497K probably benign Het
Cspg4 T A 9: 56,793,407 (GRCm39) C381S probably damaging Het
Cyp1a2 T C 9: 57,589,151 (GRCm39) N221S probably benign Het
Dnaaf5 C T 5: 139,138,679 (GRCm39) probably benign Het
Dnah7b A G 1: 46,176,645 (GRCm39) D755G probably damaging Het
Dscam A T 16: 96,622,197 (GRCm39) V418E probably damaging Het
Eefsec T A 6: 88,275,076 (GRCm39) H296L probably benign Het
Elmo3 T C 8: 106,035,852 (GRCm39) probably null Het
Gcm1 C T 9: 77,967,098 (GRCm39) Q106* probably null Het
Gnl1 G T 17: 36,299,413 (GRCm39) G528V probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
H2-T23 A G 17: 36,341,535 (GRCm39) V312A probably benign Het
Hectd4 C A 5: 121,441,588 (GRCm39) probably benign Het
Hoxa7 T A 6: 52,193,606 (GRCm39) probably benign Het
Ifnlr1 T A 4: 135,428,539 (GRCm39) V122E probably damaging Het
Kcnt2 T C 1: 140,512,025 (GRCm39) M1036T probably damaging Het
Khdc1b G T 1: 21,455,030 (GRCm39) K96N probably damaging Het
Kif19a A T 11: 114,677,561 (GRCm39) Y578F probably benign Het
Krt4 G A 15: 101,829,685 (GRCm39) T281M probably benign Het
Lyl1 A C 8: 85,430,631 (GRCm39) T178P probably damaging Het
Marchf6 A G 15: 31,488,960 (GRCm39) V317A probably benign Het
Mmp1b G A 9: 7,384,708 (GRCm39) T280I possibly damaging Het
Mpi T C 9: 57,452,536 (GRCm39) D332G probably damaging Het
Naip6 T C 13: 100,431,247 (GRCm39) T1197A probably benign Het
Ntng2 G A 2: 29,094,289 (GRCm39) L361F probably benign Het
Obscn A T 11: 59,023,373 (GRCm39) I668N probably damaging Het
Or52x1 A T 7: 104,853,162 (GRCm39) C129* probably null Het
Pabpc1l A G 2: 163,884,247 (GRCm39) E328G probably damaging Het
Pan3 A T 5: 147,387,540 (GRCm39) N170Y probably damaging Het
Prdm2 C T 4: 142,858,385 (GRCm39) R1635Q possibly damaging Het
Rassf6 G T 5: 90,752,185 (GRCm39) Q258K possibly damaging Het
Ribc2 A G 15: 85,019,451 (GRCm39) M78V probably benign Het
Rp9 A C 9: 22,361,154 (GRCm39) H44Q probably damaging Het
Skint5 T A 4: 113,799,950 (GRCm39) H73L probably damaging Het
Slc6a12 A T 6: 121,331,239 (GRCm39) probably null Het
Smg6 G A 11: 74,820,367 (GRCm39) G213R probably damaging Het
Spout1 A G 2: 30,064,148 (GRCm39) V372A probably benign Het
Svep1 T A 4: 58,084,807 (GRCm39) probably null Het
Tab1 T C 15: 80,037,941 (GRCm39) L258P probably damaging Het
Tbl3 A G 17: 24,919,682 (GRCm39) S791P possibly damaging Het
Tcof1 C A 18: 60,955,909 (GRCm39) D927Y probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Topaz1 T C 9: 122,579,669 (GRCm39) S860P possibly damaging Het
Vill T C 9: 118,897,499 (GRCm39) I258T probably benign Het
Vmn1r204 G A 13: 22,741,014 (GRCm39) R215H probably benign Het
Vmn2r106 A T 17: 20,487,913 (GRCm39) F829I probably damaging Het
Vmn2r14 A T 5: 109,363,930 (GRCm39) I662N probably damaging Het
Vmn2r58 A T 7: 41,513,885 (GRCm39) F253I probably benign Het
Vps8 A T 16: 21,288,873 (GRCm39) N411Y probably damaging Het
Zfp932 T A 5: 110,157,820 (GRCm39) V506E probably benign Het
Other mutations in Or8k40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Or8k40 APN 2 86,584,314 (GRCm39) missense probably benign 0.42
IGL01343:Or8k40 APN 2 86,584,843 (GRCm39) nonsense probably null
IGL01431:Or8k40 APN 2 86,584,508 (GRCm39) missense probably benign 0.12
IGL01771:Or8k40 APN 2 86,584,626 (GRCm39) missense probably benign 0.15
IGL03182:Or8k40 APN 2 86,584,366 (GRCm39) missense probably damaging 1.00
IGL03229:Or8k40 APN 2 86,584,360 (GRCm39) missense probably damaging 1.00
R0126:Or8k40 UTSW 2 86,584,981 (GRCm39) missense probably damaging 0.99
R0128:Or8k40 UTSW 2 86,584,231 (GRCm39) missense probably benign 0.39
R0130:Or8k40 UTSW 2 86,584,231 (GRCm39) missense probably benign 0.39
R1383:Or8k40 UTSW 2 86,584,838 (GRCm39) missense possibly damaging 0.80
R2100:Or8k40 UTSW 2 86,584,905 (GRCm39) missense possibly damaging 0.80
R2125:Or8k40 UTSW 2 86,584,796 (GRCm39) missense probably benign 0.00
R2126:Or8k40 UTSW 2 86,584,796 (GRCm39) missense probably benign 0.00
R2249:Or8k40 UTSW 2 86,584,398 (GRCm39) missense probably damaging 0.98
R3695:Or8k40 UTSW 2 86,584,215 (GRCm39) missense probably damaging 1.00
R3878:Or8k40 UTSW 2 86,584,972 (GRCm39) missense probably benign 0.02
R3940:Or8k40 UTSW 2 86,584,275 (GRCm39) missense possibly damaging 0.52
R3975:Or8k40 UTSW 2 86,584,887 (GRCm39) missense probably damaging 0.99
R4387:Or8k40 UTSW 2 86,584,464 (GRCm39) missense probably benign 0.42
R4623:Or8k40 UTSW 2 86,584,906 (GRCm39) missense possibly damaging 0.80
R4740:Or8k40 UTSW 2 86,584,155 (GRCm39) missense probably benign 0.00
R6775:Or8k40 UTSW 2 86,584,921 (GRCm39) missense probably damaging 1.00
R7002:Or8k40 UTSW 2 86,585,025 (GRCm39) missense probably benign 0.01
R7746:Or8k40 UTSW 2 86,584,437 (GRCm39) missense probably damaging 1.00
R8296:Or8k40 UTSW 2 86,584,893 (GRCm39) missense probably damaging 0.99
R9038:Or8k40 UTSW 2 86,584,354 (GRCm39) missense probably damaging 1.00
R9243:Or8k40 UTSW 2 86,584,282 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- AACACTGTCACCACTGTCAG -3'
(R):5'- ATGTCCTATGACCGCTATGTGG -3'

Sequencing Primer
(F):5'- ACTGTCAGGTGGGACCC -3'
(R):5'- ACCGCTATGTGGCCATCTGTAAG -3'
Posted On 2015-04-17