Incidental Mutation 'R1802:Or4k49'
ID 203192
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 039832-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R1802 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 111491798-111495511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 111495099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 176 (S176I)
Ref Sequence ENSEMBL: ENSMUSP00000149299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207228] [ENSMUST00000208175] [ENSMUST00000213511]
AlphaFold Q7TQX5
Predicted Effect probably damaging
Transcript: ENSMUST00000099610
AA Change: S176I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097205
Gene: ENSMUSG00000074957
AA Change: S176I

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.4e-47 PFAM
Pfam:7tm_1 41 287 2.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207228
AA Change: S176I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208983
Predicted Effect probably damaging
Transcript: ENSMUST00000213511
AA Change: S176I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 G T 15: 91,047,305 (GRCm39) R583S probably benign Het
Ago2 A T 15: 72,993,029 (GRCm39) F492Y probably damaging Het
Ano4 T A 10: 88,816,878 (GRCm39) D610V probably damaging Het
Atp6v0d2 A G 4: 19,922,366 (GRCm39) probably null Het
Atxn7 T G 14: 14,089,419 (GRCm38) S312A probably benign Het
Azgp1 A G 5: 137,983,493 (GRCm39) Y56C probably damaging Het
Bcan A G 3: 87,900,415 (GRCm39) V606A possibly damaging Het
Btnl9 T A 11: 49,066,617 (GRCm39) I335F probably benign Het
Ccdc63 T C 5: 122,267,940 (GRCm39) R9G probably damaging Het
Cdyl T A 13: 36,056,619 (GRCm39) L534* probably null Het
Celf2 T C 2: 6,554,744 (GRCm39) E445G probably damaging Het
Cfap97d1 T A 11: 101,879,302 (GRCm39) Y25N possibly damaging Het
Cimap3 T A 3: 105,921,866 (GRCm39) Q19L possibly damaging Het
Cnot8 T C 11: 58,008,361 (GRCm39) C276R probably benign Het
Dock4 A G 12: 40,844,597 (GRCm39) I1135V possibly damaging Het
Edc3 A G 9: 57,634,598 (GRCm39) D205G probably damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Fancl T G 11: 26,409,709 (GRCm39) S188R probably benign Het
Fbn2 T A 18: 58,186,048 (GRCm39) K1767* probably null Het
Glrb A T 3: 80,769,264 (GRCm39) H154Q probably damaging Het
Gm19965 C T 1: 116,748,633 (GRCm39) R105* probably null Het
Grhpr C A 4: 44,988,950 (GRCm39) Y202* probably null Het
Herc2 A G 7: 55,834,080 (GRCm39) E3095G probably damaging Het
Il22ra2 A T 10: 19,502,447 (GRCm39) N89Y probably damaging Het
Itgb6 T C 2: 60,483,625 (GRCm39) D261G probably benign Het
Jmjd7 C T 2: 119,860,589 (GRCm39) L39F probably damaging Het
Kif1a T A 1: 92,993,871 (GRCm39) I360F probably damaging Het
Kmt2d T C 15: 98,760,866 (GRCm39) Q828R unknown Het
Marchf10 C A 11: 105,280,741 (GRCm39) A515S probably benign Het
Mios T A 6: 8,216,385 (GRCm39) Y436* probably null Het
Mprip C T 11: 59,645,867 (GRCm39) L684F probably damaging Het
Mybpc2 T A 7: 44,161,894 (GRCm39) N519Y possibly damaging Het
Naga C T 15: 82,221,669 (GRCm39) R24Q probably benign Het
Nr2c1 G A 10: 93,999,648 (GRCm39) V103M possibly damaging Het
Oca2 A G 7: 55,904,728 (GRCm39) S65G possibly damaging Het
Or52ab7 A G 7: 102,977,854 (GRCm39) I54V probably benign Het
Phyhipl A T 10: 70,434,855 (GRCm39) I28N probably benign Het
Pik3cb C A 9: 98,983,342 (GRCm39) E89* probably null Het
Plekhm2 A T 4: 141,361,658 (GRCm39) S262T probably benign Het
Ppm1a T A 12: 72,840,481 (GRCm39) probably null Het
Relt T C 7: 100,499,401 (GRCm39) I173V probably damaging Het
Rfx7 T A 9: 72,526,919 (GRCm39) S1370T possibly damaging Het
Rps7 G A 12: 28,684,258 (GRCm39) R81C probably benign Het
Saa3 T C 7: 46,361,550 (GRCm39) *123W probably null Het
Serpina3b C A 12: 104,104,896 (GRCm39) H357Q probably damaging Het
Slc9c1 T A 16: 45,378,644 (GRCm39) N493K probably benign Het
Spata31 T C 13: 65,070,197 (GRCm39) Y782H probably benign Het
Tfap2a T C 13: 40,878,646 (GRCm39) D166G probably damaging Het
Thada A T 17: 84,771,835 (GRCm39) M9K probably benign Het
Tmem269 A T 4: 119,068,070 (GRCm39) probably null Het
Tnxb C A 17: 34,922,863 (GRCm39) P2482Q probably damaging Het
Vit T C 17: 78,912,940 (GRCm39) V291A possibly damaging Het
Zfp930 G T 8: 69,679,046 (GRCm39) A18S possibly damaging Het
Zup1 A T 10: 33,819,714 (GRCm39) V200D probably 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
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
Predicted Primers PCR Primer
(F):5'- ATGACCGCTATGTGGCCATC -3'
(R):5'- GTGATGTTGAGGGGCCAAAC -3'

Sequencing Primer
(F):5'- GCTATGTGGCCATCTGTAAAC -3'
(R):5'- TGGACAGGGCCTTAGATGC -3'
Posted On 2014-06-23