Incidental Mutation 'IGL02090:Or4k49'
ID 279393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4k49
Ensembl Gene ENSMUSG00000109219
Gene Name olfactory receptor family 4 subfamily K member 49
Synonyms Olfr1299, GA_x6K02T2Q125-72715642-72716580, MOR248-8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # IGL02090
Quality Score
Status
Chromosome 2
Chromosomal Location 111491798-111495511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 111495333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 254 (C254F)
Ref Sequence ENSEMBL: ENSMUSP00000149299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207228] [ENSMUST00000208175] [ENSMUST00000213511]
AlphaFold Q7TQX5
Predicted Effect probably damaging
Transcript: ENSMUST00000207228
AA Change: C254F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000208175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208983
Predicted Effect probably damaging
Transcript: ENSMUST00000213511
AA Change: C254F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 A G X: 162,968,701 (GRCm39) T482A probably damaging Het
Adh1 T C 3: 137,988,546 (GRCm39) I173T possibly damaging Het
Apoa1 T C 9: 46,140,548 (GRCm39) S60P possibly damaging Het
Blnk A G 19: 40,922,929 (GRCm39) V396A probably benign Het
Borcs8 A G 8: 70,619,030 (GRCm39) D204G probably damaging Het
Calhm5 G A 10: 33,972,261 (GRCm39) P58L probably damaging Het
Cbfa2t2 A G 2: 154,373,336 (GRCm39) probably benign Het
Cdkal1 T G 13: 29,701,493 (GRCm39) I319L probably benign Het
Celsr1 T A 15: 85,791,922 (GRCm39) T2560S possibly damaging Het
Chd8 A G 14: 52,464,691 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,689,932 (GRCm39) probably benign Het
Dnah10 A G 5: 124,866,876 (GRCm39) N2265S probably damaging Het
Dnah5 C T 15: 28,240,187 (GRCm39) probably benign Het
Epgn G A 5: 91,181,816 (GRCm39) G133E probably damaging Het
Fdx2 C A 9: 20,984,766 (GRCm39) V13F probably benign Het
Gabarapl2 A G 8: 112,667,831 (GRCm39) Y25C probably damaging Het
Gigyf1 G A 5: 137,523,826 (GRCm39) probably null Het
Gm6040 G A 8: 21,407,169 (GRCm39) probably benign Het
Gm8229 T C 14: 44,604,054 (GRCm39) L81P unknown Het
Gstz1 A G 12: 87,210,528 (GRCm39) E137G probably benign Het
Htra1 T C 7: 130,538,108 (GRCm39) V36A probably benign Het
Ifnlr1 T C 4: 135,432,578 (GRCm39) V338A probably benign Het
Igsf8 A G 1: 172,140,156 (GRCm39) probably benign Het
Khdc1a T A 1: 21,421,212 (GRCm39) F132L probably benign Het
Kifc3 G A 8: 95,829,108 (GRCm39) S561L probably damaging Het
Mpi T C 9: 57,457,936 (GRCm39) T89A probably benign Het
Ncor2 A T 5: 125,111,467 (GRCm39) M1281K probably damaging Het
Or4c117 T C 2: 88,956,021 (GRCm39) N18S probably benign Het
Or6c213 T A 10: 129,574,181 (GRCm39) I202L probably benign Het
Or6c66b T C 10: 129,377,176 (GRCm39) Y257H probably damaging Het
Otog G A 7: 45,949,571 (GRCm39) G2403D probably damaging Het
Pdgfb C A 15: 79,898,184 (GRCm39) A6S probably benign Het
Pfkm T C 15: 98,021,121 (GRCm39) probably null Het
Plcb4 A G 2: 135,789,041 (GRCm39) M274V probably benign Het
Ppm1m A G 9: 106,074,001 (GRCm39) probably null Het
Rptn A G 3: 93,304,041 (GRCm39) D458G possibly damaging Het
Sertad3 C T 7: 27,175,950 (GRCm39) S128F probably benign Het
Sgo2b A T 8: 64,380,123 (GRCm39) L903Q probably damaging Het
Slc15a5 C T 6: 138,020,598 (GRCm39) R245H probably benign Het
Slc24a5 A T 2: 124,910,218 (GRCm39) T40S probably benign Het
Smchd1 T C 17: 71,738,248 (GRCm39) N539S possibly damaging Het
Tlr11 A G 14: 50,600,489 (GRCm39) D825G probably damaging Het
Top3b T G 16: 16,709,334 (GRCm39) V674G possibly damaging Het
Urb2 G A 8: 124,754,976 (GRCm39) V228I probably benign Het
Usp24 C T 4: 106,268,623 (GRCm39) A2061V possibly damaging Het
Wdr72 C A 9: 74,062,212 (GRCm39) H453N possibly damaging Het
Xkr9 T C 1: 13,771,600 (GRCm39) M372T probably damaging Het
Zc3h12d T G 10: 7,743,096 (GRCm39) S289A probably benign Het
Zfp607b A T 7: 27,398,140 (GRCm39) M75L possibly damaging Het
Other mutations in Or4k49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Or4k49 APN 2 111,495,489 (GRCm39) missense probably benign 0.00
IGL02213:Or4k49 APN 2 111,495,020 (GRCm39) missense probably benign 0.05
R0603:Or4k49 UTSW 2 111,495,225 (GRCm39) missense probably damaging 1.00
R1598:Or4k49 UTSW 2 111,495,099 (GRCm39) missense probably damaging 1.00
R1802:Or4k49 UTSW 2 111,495,099 (GRCm39) missense probably damaging 1.00
R1803:Or4k49 UTSW 2 111,495,099 (GRCm39) missense probably damaging 1.00
R1885:Or4k49 UTSW 2 111,495,099 (GRCm39) missense probably damaging 1.00
R1887:Or4k49 UTSW 2 111,495,099 (GRCm39) missense probably damaging 1.00
R1962:Or4k49 UTSW 2 111,495,234 (GRCm39) missense probably damaging 1.00
R2024:Or4k49 UTSW 2 111,495,168 (GRCm39) missense possibly damaging 0.53
R2438:Or4k49 UTSW 2 111,495,096 (GRCm39) missense probably damaging 1.00
R5132:Or4k49 UTSW 2 111,495,344 (GRCm39) missense probably damaging 1.00
R5938:Or4k49 UTSW 2 111,494,708 (GRCm39) missense probably benign
R6115:Or4k49 UTSW 2 111,494,987 (GRCm39) nonsense probably null
R6336:Or4k49 UTSW 2 111,494,964 (GRCm39) missense possibly damaging 0.81
R6418:Or4k49 UTSW 2 111,494,817 (GRCm39) missense probably benign 0.00
R7196:Or4k49 UTSW 2 111,495,042 (GRCm39) missense probably damaging 0.97
R7539:Or4k49 UTSW 2 111,494,778 (GRCm39) missense possibly damaging 0.83
R8262:Or4k49 UTSW 2 111,494,587 (GRCm39) missense possibly damaging 0.89
R8331:Or4k49 UTSW 2 111,494,727 (GRCm39) missense possibly damaging 0.95
R9765:Or4k49 UTSW 2 111,495,230 (GRCm39) missense probably benign 0.12
Posted On 2015-04-16