Incidental Mutation 'R4623:Or8k40'
ID 346300
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 041888-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R4623 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86584139-86585080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86584906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 59 (M59L)
Ref Sequence ENSEMBL: ENSMUSP00000149968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099875] [ENSMUST00000215991] [ENSMUST00000217043]
AlphaFold Q8VGA6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099875
AA Change: M59L

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097460
Gene: ENSMUSG00000075172
AA Change: M59L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.4e-47 PFAM
Pfam:7tm_1 41 290 7.1e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215991
AA Change: M59L

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217043
AA Change: M59L

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.3804 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (88/89)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J04Rik T C 12: 11,272,141 (GRCm39) noncoding transcript Het
A930003A15Rik C T 16: 19,702,487 (GRCm39) noncoding transcript Het
Abca13 A G 11: 9,259,130 (GRCm39) Y2952C probably damaging Het
Actrt2 T C 4: 154,751,747 (GRCm39) T130A probably benign Het
Adamts7 T A 9: 90,068,515 (GRCm39) D475E probably benign Het
Adgrf5 A G 17: 43,761,874 (GRCm39) S1190G probably benign Het
Adgrg6 A T 10: 14,317,243 (GRCm39) C526S probably damaging Het
Aldoc T C 11: 78,215,947 (GRCm39) V151A probably damaging Het
Arsj A T 3: 126,158,445 (GRCm39) E8V probably benign Het
Asph T C 4: 9,622,005 (GRCm39) K167E possibly damaging Het
Auts2 G A 5: 131,469,221 (GRCm39) P475S probably benign Het
C1d A G 11: 17,212,742 (GRCm39) D29G possibly damaging Het
Calb1 T A 4: 15,895,721 (GRCm39) probably benign Het
Ceacam15 A T 7: 16,407,391 (GRCm39) F42Y probably damaging Het
Cpm A G 10: 117,506,202 (GRCm39) N188D possibly damaging Het
Cts6 A T 13: 61,349,974 (GRCm39) Y36N possibly damaging Het
Cux1 T C 5: 136,337,154 (GRCm39) K657R probably damaging Het
Cyp2a22 G T 7: 26,632,916 (GRCm39) P429T probably damaging Het
Dipk2a T C 9: 94,402,451 (GRCm39) N404D possibly damaging Het
Dock3 T C 9: 106,939,244 (GRCm39) E168G possibly damaging Het
Dot1l A G 10: 80,617,984 (GRCm39) N324S probably benign Het
Dusp13b A C 14: 21,793,546 (GRCm39) probably benign Het
Eif4g1 T A 16: 20,500,095 (GRCm39) probably benign Het
Fan1 G T 7: 64,023,301 (GRCm39) Y121* probably null Het
Foxn4 T C 5: 114,398,991 (GRCm39) E80G possibly damaging Het
Gal3st2c C A 1: 93,937,178 (GRCm39) H374Q possibly damaging Het
Gm973 A T 1: 59,595,435 (GRCm39) I409F probably damaging Het
Gpr18 T A 14: 122,149,579 (GRCm39) T149S probably damaging Het
Gsr A G 8: 34,170,333 (GRCm39) E206G probably damaging Het
Hal A G 10: 93,343,301 (GRCm39) H515R probably damaging Het
Heatr5b A G 17: 79,102,548 (GRCm39) S1277P possibly damaging Het
Hmcn2 A G 2: 31,286,722 (GRCm39) E2125G probably damaging Het
Ikzf4 A G 10: 128,476,988 (GRCm39) C108R probably damaging Het
Kcnh2 A G 5: 24,553,440 (GRCm39) V59A probably benign Het
Khdrbs1 A G 4: 129,614,635 (GRCm39) V306A probably benign Het
Kif11 A T 19: 37,398,195 (GRCm39) I674L probably benign Het
Lrp1b A T 2: 41,136,033 (GRCm39) C1646S probably damaging Het
Ltbp2 A G 12: 84,856,122 (GRCm39) I707T probably damaging Het
Macf1 A G 4: 123,266,141 (GRCm39) probably null Het
Mib1 C A 18: 10,808,086 (GRCm39) N944K probably benign Het
Mical3 C A 6: 120,938,586 (GRCm39) E262* probably null Het
Mms22l C T 4: 24,502,792 (GRCm39) Q55* probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrps11 T C 7: 78,441,689 (GRCm39) probably null Het
Myh8 A G 11: 67,177,084 (GRCm39) E412G probably damaging Het
Myo9a T A 9: 59,778,355 (GRCm39) D1370E probably benign Het
Ncapd2 A G 6: 125,150,572 (GRCm39) V843A probably benign Het
Nell1 A G 7: 49,770,310 (GRCm39) E123G possibly damaging Het
Nkd1 A G 8: 89,316,383 (GRCm39) D213G probably benign Het
Nlrp1b T C 11: 71,052,669 (GRCm39) T920A probably benign Het
Or5k8 A T 16: 58,644,469 (GRCm39) I201N possibly damaging Het
Or6c208 G A 10: 129,223,915 (GRCm39) V138M probably benign Het
Pde8b C T 13: 95,178,447 (GRCm39) A566T possibly damaging Het
Pds5b T A 5: 150,724,066 (GRCm39) S1214R probably benign Het
Pld1 T C 3: 28,083,393 (GRCm39) I171T probably benign Het
Plekha5 T A 6: 140,496,912 (GRCm39) V154E probably damaging Het
Plxna2 A T 1: 194,494,458 (GRCm39) I1892L probably benign Het
Ppp1r16b A G 2: 158,603,383 (GRCm39) Y436C possibly damaging Het
Proc T A 18: 32,260,526 (GRCm39) T200S probably benign Het
Psap T G 10: 60,136,630 (GRCm39) C536W probably damaging Het
Ptger2 G A 14: 45,226,471 (GRCm39) R17H possibly damaging Het
Rab42 A G 4: 132,030,504 (GRCm39) F49L possibly damaging Het
Racgap1 C A 15: 99,524,087 (GRCm39) S440I probably benign Het
Rdh10 G A 1: 16,201,287 (GRCm39) probably benign Het
Rnft2 T A 5: 118,370,471 (GRCm39) S244C probably damaging Het
Sftpc T C 14: 70,759,718 (GRCm39) probably null Het
Shcbp1 A C 8: 4,789,178 (GRCm39) V547G probably damaging Het
Slc6a13 T C 6: 121,302,104 (GRCm39) S229P probably damaging Het
Soat2 A T 15: 102,066,144 (GRCm39) probably benign Het
Swap70 A G 7: 109,867,079 (GRCm39) K294E probably benign Het
Tcim C A 8: 24,928,725 (GRCm39) R63L probably damaging Het
Tek G A 4: 94,751,898 (GRCm39) V1013I probably damaging Het
Tg T A 15: 66,607,120 (GRCm39) M219K probably benign Het
Tie1 A G 4: 118,343,808 (GRCm39) S45P possibly damaging Het
Tmem59 A T 4: 107,047,915 (GRCm39) probably benign Het
Togaram1 A T 12: 65,029,224 (GRCm39) E882D possibly damaging Het
Tram1l1 T A 3: 124,115,509 (GRCm39) M223K possibly damaging Het
Tssk5 C T 15: 76,256,668 (GRCm39) R280Q probably benign Het
Uspl1 T A 5: 149,151,405 (GRCm39) D669E probably damaging Het
Vav1 C A 17: 57,606,839 (GRCm39) probably null Het
Vcl A T 14: 21,065,007 (GRCm39) E634V probably benign Het
Zfp672 A T 11: 58,207,281 (GRCm39) C347S 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
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
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'- TTTGGGACATGAGGACAGTG -3'
(R):5'- GAAGGAACACAATCTCACAGTAATG -3'

Sequencing Primer
(F):5'- TTACAGATGGCCACATAGCGGTC -3'
(R):5'- GACTGAATTCATCCTAATGGGTATC -3'
Posted On 2015-09-25