Incidental Mutation 'R7002:Or8k40'
ID 544579
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 045107-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7002 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86584139-86585080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86585025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 19 (D19G)
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: D19G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000097460
Gene: ENSMUSG00000075172
AA Change: D19G

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: D19G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000217043
AA Change: D19G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,832,390 (GRCm39) S1308P probably damaging Het
Abl2 A T 1: 156,386,703 (GRCm39) R29W probably damaging Het
Adam6b C A 12: 113,453,327 (GRCm39) S48* probably null Het
Adamts18 T A 8: 114,501,922 (GRCm39) D313V possibly damaging Het
Aoc1 A G 6: 48,882,810 (GRCm39) S229G probably benign Het
Apol10a G A 15: 77,369,046 (GRCm39) R15H possibly damaging Het
Bend4 T A 5: 67,555,602 (GRCm39) T535S probably benign Het
Blm T C 7: 80,119,501 (GRCm39) K1024R probably benign Het
Brca2 T C 5: 150,463,383 (GRCm39) V1049A probably benign Het
Cerk T C 15: 86,040,795 (GRCm39) Y188C possibly damaging Het
Cic C T 7: 24,971,621 (GRCm39) R451C probably damaging Het
Col18a1 A T 10: 77,002,177 (GRCm39) V10E unknown Het
Cplx1 T A 5: 108,668,182 (GRCm39) K58M probably damaging Het
Crybg1 T A 10: 43,874,831 (GRCm39) D759V probably damaging Het
Cwc25 A T 11: 97,638,897 (GRCm39) N342K probably damaging Het
Dab2 A T 15: 6,464,846 (GRCm39) T566S probably benign Het
Depdc5 G A 5: 33,034,502 (GRCm39) probably null Het
Dip2b T A 15: 100,058,346 (GRCm39) N408K probably benign Het
Dnah12 T C 14: 26,598,955 (GRCm39) I3631T probably damaging Het
Dnase1 A G 16: 3,857,410 (GRCm39) I236V possibly damaging Het
Duox1 C T 2: 122,150,358 (GRCm39) Q196* probably null Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Erich5 C T 15: 34,471,508 (GRCm39) L246F probably damaging Het
Frmpd1 C T 4: 45,284,200 (GRCm39) A1007V probably benign Het
Fsip2 T A 2: 82,819,687 (GRCm39) I5140N possibly damaging Het
Gan T C 8: 117,922,586 (GRCm39) C440R possibly damaging Het
Garnl3 T A 2: 32,944,205 (GRCm39) H73L possibly damaging Het
Gid8 T G 2: 180,355,096 (GRCm39) M34R possibly damaging Het
Gjd4 C A 18: 9,280,960 (GRCm39) L39F possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grhpr T C 4: 44,990,427 (GRCm39) S306P probably damaging Het
H2bc21 A G 3: 96,128,689 (GRCm39) I70V probably benign Het
Hdac4 T G 1: 91,896,083 (GRCm39) K729T possibly damaging Het
Igfbp2 C T 1: 72,888,804 (GRCm39) H85Y probably damaging Het
Igkv4-61 T G 6: 69,394,373 (GRCm39) I13L probably benign Het
Il18r1 G A 1: 40,514,013 (GRCm39) S73N probably benign Het
Immt T C 6: 71,838,024 (GRCm39) V244A probably damaging Het
Irs1 T C 1: 82,265,981 (GRCm39) Y745C probably benign Het
Itpr3 T C 17: 27,329,554 (GRCm39) V1526A probably benign Het
Jrkl A T 9: 13,245,526 (GRCm39) I45K probably damaging Het
Lamp3 G T 16: 19,474,172 (GRCm39) Q401K possibly damaging Het
Lrrfip1 T A 1: 91,043,180 (GRCm39) H528Q probably benign Het
Ltn1 A T 16: 87,220,361 (GRCm39) D245E probably benign Het
Mmut T A 17: 41,252,274 (GRCm39) I272N possibly damaging Het
Mnat1 T C 12: 73,277,479 (GRCm39) probably benign Het
Mprip A C 11: 59,652,016 (GRCm39) M1907L probably benign Het
Nfu1 C A 6: 86,993,254 (GRCm39) H131Q probably benign Het
Nup188 T A 2: 30,213,580 (GRCm39) S670R probably damaging Het
Or5b120 A G 19: 13,480,039 (GRCm39) N111D probably benign Het
Pals2 C T 6: 50,139,642 (GRCm39) P116L probably benign Het
Parp4 T A 14: 56,839,861 (GRCm39) V523E probably damaging Het
Pbrm1 T A 14: 30,786,777 (GRCm39) D631E probably benign Het
Prss40 A T 1: 34,591,481 (GRCm39) probably null Het
Rnf13 A G 3: 57,741,033 (GRCm39) N274S probably damaging Het
Rtl1 T A 12: 109,560,381 (GRCm39) Y486F probably damaging Het
Sec14l3 A T 11: 4,025,263 (GRCm39) H291L possibly damaging Het
Senp5 A G 16: 31,802,593 (GRCm39) S532P probably damaging Het
Sepsecs T C 5: 52,804,550 (GRCm39) probably null Het
Serpina1e T C 12: 103,914,338 (GRCm39) I329V probably benign Het
Slc10a4-ps T A 5: 72,743,763 (GRCm39) probably null Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,773 (GRCm39) unknown Het
Smc5 A G 19: 23,209,247 (GRCm39) V639A probably benign Het
Speg T A 1: 75,399,912 (GRCm39) V2453E probably damaging Het
Syt2 T A 1: 134,671,842 (GRCm39) F207I probably damaging Het
Tchp C T 5: 114,846,857 (GRCm39) S48L probably benign Het
Trim12a A G 7: 103,953,383 (GRCm39) S243P possibly damaging Het
Ttn T C 2: 76,628,561 (GRCm39) E14533G probably damaging Het
Vmn1r50 T A 6: 90,084,819 (GRCm39) M188K probably benign Het
Vps11 G A 9: 44,266,376 (GRCm39) T437I probably damaging Het
Xrn1 C T 9: 95,929,843 (GRCm39) T1498I probably benign Het
Zfp236 A G 18: 82,709,701 (GRCm39) probably null Het
Zfp316 T C 5: 143,249,110 (GRCm39) D175G unknown Het
Zmynd11 A G 13: 9,744,366 (GRCm39) L256P probably damaging 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
R3944:Or8k40 UTSW 2 86,584,525 (GRCm39) missense probably benign 0.17
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
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'- ATTTTGGGTCCCACAGCTGTAG -3'
(R):5'- CCAAGTATGTAAGAGCTATTCACTG -3'

Sequencing Primer
(F):5'- TGGGTCCCACAGCTGTAGAATATC -3'
(R):5'- GAGCTATTCACTGTTTTTTCTTCTTT -3'
Posted On 2019-05-13