Incidental Mutation 'R4740:Or8k40'
ID 359585
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 041965-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R4740 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86584139-86585080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86584155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 309 (C309Y)
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: C309Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097460
Gene: ENSMUSG00000075172
AA Change: C309Y

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: C309Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000217043
AA Change: C309Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.1108 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (95/95)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik C T 16: 21,513,146 (GRCm39) A4T probably benign Het
Aacs T C 5: 125,583,316 (GRCm39) S291P probably damaging Het
Abcb1a T C 5: 8,752,280 (GRCm39) probably null Het
Apol10a C T 15: 77,372,841 (GRCm39) T159I possibly damaging Het
Arhgap5 A T 12: 52,565,860 (GRCm39) M944L probably benign Het
Atg16l2 A G 7: 100,946,385 (GRCm39) L129P probably damaging Het
Baiap2l2 T A 15: 79,143,951 (GRCm39) Y381F probably benign Het
Chd6 A T 2: 160,812,103 (GRCm39) D1363E probably benign Het
Ciao3 A T 17: 26,000,283 (GRCm39) H322L probably damaging Het
Cir1 T C 2: 73,142,867 (GRCm39) probably benign Het
Clec4a2 T C 6: 123,117,622 (GRCm39) I180T probably damaging Het
Clec4d T A 6: 123,245,072 (GRCm39) H117Q probably damaging Het
Cntnap2 A T 6: 45,037,251 (GRCm39) R10W possibly damaging Het
Coro6 A G 11: 77,360,025 (GRCm39) E362G possibly damaging Het
Ctr9 T A 7: 110,634,578 (GRCm39) C196S probably benign Het
Cyp2c55 A G 19: 39,007,173 (GRCm39) K190E probably benign Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dnah11 A G 12: 118,084,279 (GRCm39) F1242L probably benign Het
Dnah2 A G 11: 69,348,868 (GRCm39) W2534R probably damaging Het
Dph7 T C 2: 24,853,143 (GRCm39) S86P possibly damaging Het
Dpp9 A C 17: 56,505,970 (GRCm39) probably null Het
Eif4g3 T A 4: 137,925,408 (GRCm39) S1584T probably benign Het
Eml4 T G 17: 83,717,459 (GRCm39) D10E probably damaging Het
Enpp1 A T 10: 24,555,146 (GRCm39) C67S probably null Het
Epn1 A G 7: 5,093,012 (GRCm39) D108G probably damaging Het
Eps15 A G 4: 109,200,387 (GRCm39) Y2C probably damaging Het
Fam135b C T 15: 71,335,920 (GRCm39) V425I probably benign Het
Frem2 G A 3: 53,443,240 (GRCm39) A2508V probably benign Het
Fzd3 T A 14: 65,473,193 (GRCm39) M192L possibly damaging Het
Gls C T 1: 52,271,947 (GRCm39) A69T probably damaging Het
Gm10051 T A 5: 133,504,113 (GRCm39) noncoding transcript Het
Gm9271 A G 7: 39,013,346 (GRCm39) noncoding transcript Het
Gramd1b T C 9: 40,227,128 (GRCm39) probably null Het
Gvin-ps6 G A 7: 106,022,782 (GRCm39) noncoding transcript Het
H2-T23 A T 17: 36,343,016 (GRCm39) probably benign Het
H2-T5 T A 17: 36,478,448 (GRCm39) I195F probably damaging Het
Hmbox1 G A 14: 65,134,483 (GRCm39) T39I probably damaging Het
Hmx1 A G 5: 35,549,115 (GRCm39) E136G probably damaging Het
Hpdl T C 4: 116,678,221 (GRCm39) N80S probably damaging Het
Hydin A G 8: 111,173,071 (GRCm39) N918S probably benign Het
Igkv5-37 T A 6: 69,940,306 (GRCm39) S113C probably damaging Het
Il36rn T C 2: 24,167,503 (GRCm39) probably benign Het
Mab21l4 A C 1: 93,083,890 (GRCm39) M189R probably benign Het
Marco G T 1: 120,422,499 (GRCm39) T61K probably damaging Het
Med1 T A 11: 98,071,090 (GRCm39) R86* probably null Het
Mertk A G 2: 128,593,914 (GRCm39) Y306C probably damaging Het
Mgat4c T C 10: 102,224,265 (GRCm39) F160L probably damaging Het
Midn A T 10: 79,987,238 (GRCm39) E88V probably null Het
Muc4 G A 16: 32,596,277 (GRCm39) R3163H possibly damaging Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nhlrc4 T C 17: 26,162,577 (GRCm39) T57A probably benign Het
Nlrp1a T C 11: 71,004,466 (GRCm39) probably null Het
Npffr2 A T 5: 89,730,879 (GRCm39) K270* probably null Het
Or10a3 T G 7: 108,480,689 (GRCm39) E41D probably benign Het
Or2b6 T A 13: 21,823,340 (GRCm39) M118L possibly damaging Het
Or51e1 T A 7: 102,359,378 (GRCm39) I304N probably damaging Het
Or8g26 T A 9: 39,095,664 (GRCm39) Y60* probably null Het
Otub2 T A 12: 103,359,103 (GRCm39) L64Q probably benign Het
Pabpc4l C G 3: 46,400,570 (GRCm39) G358A possibly damaging Het
Pabpc4l C T 3: 46,400,579 (GRCm39) R355H probably benign Het
Parp1 T C 1: 180,417,033 (GRCm39) S606P probably damaging Het
Pkhd1 A G 1: 20,594,354 (GRCm39) V1253A probably benign Het
Psg29 G A 7: 16,942,458 (GRCm39) R153H probably benign Het
Rbm25 A G 12: 83,691,181 (GRCm39) M58V possibly damaging Het
Rbm28 T C 6: 29,125,353 (GRCm39) probably benign Het
Ryr2 A G 13: 11,671,933 (GRCm39) S3436P possibly damaging Het
Slc3a1 A G 17: 85,354,181 (GRCm39) I335V probably benign Het
Slc4a4 T C 5: 89,373,753 (GRCm39) F953S probably damaging Het
Spata20 A G 11: 94,375,404 (GRCm39) I130T possibly damaging Het
Spata31h1 T C 10: 82,119,481 (GRCm39) T4510A possibly damaging Het
Srcap T C 7: 127,148,471 (GRCm39) S1879P probably damaging Het
St18 G C 1: 6,887,828 (GRCm39) V466L probably benign Het
Stard3nl A T 13: 19,551,948 (GRCm39) M166K probably benign Het
Stard3nl G A 13: 19,560,736 (GRCm39) T13M probably damaging Het
Stil A G 4: 114,863,979 (GRCm39) T74A probably benign Het
Syt6 T G 3: 103,532,972 (GRCm39) M367R probably damaging Het
Tacc1 T C 8: 25,672,581 (GRCm39) T125A possibly damaging Het
Tbc1d8 G A 1: 39,441,959 (GRCm39) T211I possibly damaging Het
Tcaf1 A G 6: 42,663,809 (GRCm39) S24P probably benign Het
Trim75 T G 8: 65,435,199 (GRCm39) Y417S probably damaging Het
Ttll12 T C 15: 83,464,321 (GRCm39) Y503C probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Unc5c A T 3: 141,522,692 (GRCm39) Y706F probably benign Het
Zfp593 T C 4: 133,972,077 (GRCm39) probably benign Het
Zfp956 T C 6: 47,939,476 (GRCm39) S175P 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
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'- AGGATGGCAATGTCTTTTCATG -3'
(R):5'- AGGTACAAGGCTTTCTCCACATG -3'

Sequencing Primer
(F):5'- GTATAGATCGACCTCTGTCT -3'
(R):5'- TGGGTCCCACCTGACAGTG -3'
Posted On 2015-11-11