Incidental Mutation 'R2024:Or4k49'
ID 220221
Institutional Source Beutler Lab
Gene Symbol Or4k49
Ensembl Gene ENSMUSG00000109219
Gene Name olfactory receptor family 4 subfamily K member 49
Synonyms Olfr1299, GA_x6K02T2Q125-72715642-72716580, MOR248-8
MMRRC Submission 040033-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R2024 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 111491798-111495511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111495168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 199 (M199K)
Ref Sequence ENSEMBL: ENSMUSP00000149299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207228] [ENSMUST00000208175] [ENSMUST00000213511]
AlphaFold Q7TQX5
Predicted Effect possibly damaging
Transcript: ENSMUST00000099610
AA Change: M199K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097205
Gene: ENSMUSG00000074957
AA Change: M199K

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.4e-47 PFAM
Pfam:7tm_1 41 287 2.6e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207228
AA Change: M199K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000208175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208983
Predicted Effect possibly damaging
Transcript: ENSMUST00000213511
AA Change: M199K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 90.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 A G 15: 96,259,680 (GRCm39) D280G probably damaging Het
Atosa A G 9: 74,917,672 (GRCm39) D757G probably damaging Het
Azi2 C T 9: 117,878,390 (GRCm39) R77* probably null Het
Chd8 T C 14: 52,468,950 (GRCm39) D556G probably benign Het
Cit T C 5: 116,085,983 (GRCm39) M849T probably damaging Het
Cit T C 5: 116,143,899 (GRCm39) S1923P probably damaging Het
Col17a1 T A 19: 47,639,185 (GRCm39) H1120L probably benign Het
Col6a5 G T 9: 105,814,193 (GRCm39) H606Q unknown Het
Dnajc2 A C 5: 21,981,788 (GRCm39) H45Q probably damaging Het
Dpp6 A G 5: 27,914,457 (GRCm39) D514G possibly damaging Het
Dync2h1 A G 9: 7,129,062 (GRCm39) S1818P probably damaging Het
Efemp1 A T 11: 28,864,696 (GRCm39) Y250F possibly damaging Het
Emc1 G A 4: 139,088,257 (GRCm39) E342K possibly damaging Het
Fam3c T C 6: 22,329,592 (GRCm39) D45G probably benign Het
Fchsd2 A C 7: 100,847,740 (GRCm39) D210A possibly damaging Het
Flg T A 3: 93,186,722 (GRCm39) M58K probably damaging Het
Gabra5 G A 7: 57,138,698 (GRCm39) R117C probably damaging Het
Gm6741 G A 17: 91,544,309 (GRCm39) S24N probably benign Het
Grin2a T C 16: 9,462,107 (GRCm39) D675G possibly damaging Het
Hectd4 T G 5: 121,419,981 (GRCm39) V642G possibly damaging Het
Herc6 C T 6: 57,560,317 (GRCm39) T119M probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hmgcs2 T C 3: 98,206,530 (GRCm39) S371P probably damaging Het
Idua C T 5: 108,828,600 (GRCm39) A271V probably damaging Het
Inpp5d T A 1: 87,623,072 (GRCm39) C125* probably null Het
Krt14 C T 11: 100,098,044 (GRCm39) G80R unknown Het
Lama5 T C 2: 179,820,923 (GRCm39) Y3176C probably benign Het
Lce1k C T 3: 92,713,809 (GRCm39) C125Y unknown Het
Lig4 A T 8: 10,022,436 (GRCm39) L448Q probably damaging Het
Macf1 C T 4: 123,265,711 (GRCm39) A4821T probably damaging Het
Meioc C T 11: 102,566,184 (GRCm39) A600V probably benign Het
Mepe T C 5: 104,474,957 (GRCm39) S13P possibly damaging Het
Mms22l A G 4: 24,588,365 (GRCm39) Y999C probably damaging Het
Ncbp3 T A 11: 72,944,346 (GRCm39) M116K possibly damaging Het
Ndufa10 A G 1: 92,367,614 (GRCm39) Y339H probably damaging Het
Nkx3-1 T C 14: 69,428,266 (GRCm39) I38T probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Padi6 T G 4: 140,456,279 (GRCm39) I572L possibly damaging Het
Pdss2 A T 10: 43,269,871 (GRCm39) N238I possibly damaging Het
Pkd1l2 A G 8: 117,746,272 (GRCm39) V1906A probably benign Het
Pom121 T C 5: 135,410,404 (GRCm39) probably benign Het
Psmd9 T C 5: 123,379,925 (GRCm39) F115L probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rai1 T C 11: 60,076,415 (GRCm39) F160L probably damaging Het
Rhbdl2 A T 4: 123,720,665 (GRCm39) R234S probably damaging Het
Rnase2a T A 14: 51,493,245 (GRCm39) Y40F probably damaging Het
Setd2 T C 9: 110,378,201 (GRCm39) V672A possibly damaging Het
Sgpp2 A G 1: 78,393,857 (GRCm39) I287V probably benign Het
Sh3pxd2a T C 19: 47,255,703 (GRCm39) E1033G probably benign Het
Slc5a9 G A 4: 111,747,728 (GRCm39) T284I probably damaging Het
Slfn9 A G 11: 82,872,507 (GRCm39) L743P probably damaging Het
Smchd1 T A 17: 71,677,923 (GRCm39) N1473I probably benign Het
Stx1b A T 7: 127,414,575 (GRCm39) D16E probably benign Het
Tectb T C 19: 55,170,361 (GRCm39) F71L probably damaging Het
Tmem220 T C 11: 66,924,979 (GRCm39) I138T possibly damaging Het
Tmtc4 T C 14: 123,158,677 (GRCm39) N682S probably benign Het
Tnc A G 4: 63,882,858 (GRCm39) V1921A probably damaging Het
Ubn1 T G 16: 4,882,487 (GRCm39) L316W probably damaging Het
Vwa5a T C 9: 38,647,357 (GRCm39) S579P probably damaging Het
Xdh A G 17: 74,228,300 (GRCm39) L367P possibly damaging Het
Zfp280b T C 10: 75,874,328 (GRCm39) L69S probably damaging Het
Zfp990 A C 4: 145,263,974 (GRCm39) Y324S possibly damaging Het
Other mutations in Or4k49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Or4k49 APN 2 111,495,489 (GRCm39) missense probably benign 0.00
IGL02090:Or4k49 APN 2 111,495,333 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TGTGGCCATCTGTAAACCTCTC -3'
(R):5'- TGTTGAGGGGCCAAACATAG -3'

Sequencing Primer
(F):5'- TCATGAACCTGAAAAGATGCACTG -3'
(R):5'- CCAAACATAGATGAAGATGCAGGGC -3'
Posted On 2014-08-25