Incidental Mutation 'R6336:Or4k49'
ID 510741
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 044490-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R6336 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 111491798-111495511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111494964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 131 (H131R)
Ref Sequence ENSEMBL: ENSMUSP00000149299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207228] [ENSMUST00000208175] [ENSMUST00000213511]
AlphaFold Q7TQX5
Predicted Effect possibly damaging
Transcript: ENSMUST00000207228
AA Change: H131R

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000208175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208983
Predicted Effect possibly damaging
Transcript: ENSMUST00000213511
AA Change: H131R

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Meta Mutation Damage Score 0.3746 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (45/46)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik G T 5: 113,331,349 (GRCm39) P955Q possibly damaging Het
Adgrv1 T C 13: 81,534,100 (GRCm39) N5827S probably benign Het
Akt3 T C 1: 176,859,278 (GRCm39) D431G probably damaging Het
Anapc16 A T 10: 59,824,651 (GRCm39) V76D possibly damaging Het
Ankib1 A T 5: 3,750,377 (GRCm39) Y755* probably null Het
Ankrd6 A G 4: 32,860,411 (GRCm39) S11P probably damaging Het
Card6 T A 15: 5,128,646 (GRCm39) K917* probably null Het
Ccdc152 T C 15: 3,330,611 (GRCm39) I21M probably damaging Het
Ccdc40 A G 11: 119,122,819 (GRCm39) E207G possibly damaging Het
Clca3a2 G T 3: 144,512,239 (GRCm39) A499E probably benign Het
Cntnap5b C T 1: 100,286,394 (GRCm39) A383V probably benign Het
Ddo T C 10: 40,509,027 (GRCm39) V89A probably damaging Het
Depdc5 T C 5: 33,121,851 (GRCm39) 176 probably null Het
Dlgap1 T A 17: 71,122,284 (GRCm39) D904E probably damaging Het
Ephb4 T A 5: 137,370,347 (GRCm39) L849H probably damaging Het
Fbxl13 A G 5: 21,728,545 (GRCm39) probably null Het
Fer1l6 C A 15: 58,431,081 (GRCm39) Y245* probably null Het
Foxred2 A G 15: 77,839,964 (GRCm39) Y109H probably damaging Het
Gabarapl1 A G 6: 129,514,491 (GRCm39) D43G probably benign Het
Gabrb1 A C 5: 72,187,241 (GRCm39) E178A possibly damaging Het
Gbp11 A G 5: 105,473,355 (GRCm39) Het
Grin3b C A 10: 79,812,295 (GRCm39) A845E probably damaging Het
Hoxd4 A G 2: 74,557,705 (GRCm39) Y28C probably damaging Het
Igsf10 G A 3: 59,237,760 (GRCm39) T807M probably benign Het
Kcnt1 A G 2: 25,778,767 (GRCm39) probably null Het
Kdm5a C A 6: 120,375,939 (GRCm39) T565K probably damaging Het
Map7d1 A G 4: 126,130,475 (GRCm39) S412P probably damaging Het
Mok A G 12: 110,800,558 (GRCm39) probably null Het
Mto1 A T 9: 78,381,117 (GRCm39) I73F probably damaging Het
Mtss2 G A 8: 111,458,796 (GRCm39) D310N probably damaging Het
Ncf2 T C 1: 152,709,821 (GRCm39) Y393H probably damaging Het
Or13c25 A T 4: 52,911,459 (GRCm39) C112S probably damaging Het
Or2f1b T C 6: 42,739,591 (GRCm39) S202P probably damaging Het
Or2y14 G T 11: 49,405,369 (GRCm39) K301N probably damaging Het
Or4f47 A C 2: 111,972,751 (GRCm39) I154L probably benign Het
Or52z1 T C 7: 103,437,452 (GRCm39) T11A possibly damaging Het
Phxr2 T A 10: 98,961,952 (GRCm39) probably benign Het
Potefam3f A G 8: 20,499,951 (GRCm39) K242E unknown Het
Rnf17 A G 14: 56,658,626 (GRCm39) probably null Het
Serpinb9d T C 13: 33,378,677 (GRCm39) M41T probably damaging Het
Slc12a5 T A 2: 164,834,384 (GRCm39) probably null Het
Slc22a6 G A 19: 8,599,494 (GRCm39) R331H probably benign Het
Spg11 G C 2: 121,943,440 (GRCm39) probably null Het
Src T A 2: 157,299,075 (GRCm39) V24E probably benign Het
Srgap1 A T 10: 121,761,846 (GRCm39) Y101N probably benign Het
Vmn2r30 T A 7: 7,337,307 (GRCm39) T110S probably benign Het
Vwa3a A G 7: 120,361,646 (GRCm39) E119G possibly damaging Het
Whamm T A 7: 81,241,512 (GRCm39) D274E 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
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
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'- ACTTCTTGTTGGCCAACCTG -3'
(R):5'- TCATGGGAATCTGTGCAGG -3'

Sequencing Primer
(F):5'- AACCTGTCCTTTGTTGATATATGGC -3'
(R):5'- AATCTGTGCAGGCTAGTTTGATTAC -3'
Posted On 2018-04-02