Incidental Mutation 'R1912:Olfr749'
ID 210444
Institutional Source Beutler Lab
Gene Symbol Olfr749
Ensembl Gene ENSMUSG00000059069
Gene Name olfactory receptor 749
Synonyms GA_x6K02T2PMLR-6484046-6483105, MOR106-1
MMRRC Submission 039930-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1912 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 50736171-50745094 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 50736778 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 128 (P128L)
Ref Sequence ENSEMBL: ENSMUSP00000150627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074674] [ENSMUST00000214290]
AlphaFold E9Q438
Predicted Effect probably damaging
Transcript: ENSMUST00000074674
AA Change: P128L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074242
Gene: ENSMUSG00000059069
AA Change: P128L

Pfam:7tm_4 30 307 5.2e-53 PFAM
Pfam:7tm_1 40 289 7.3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214290
AA Change: P128L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.8%
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]
PHENOTYPE: A reporter allele shows expression of this olfactory receptor by embryonic day 15.5 and throughout olfactory development there is an increase in the numbers of expressing olfactory sensory neurons with expression localized to the dorsal main olfactory epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 122 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik C A 5: 5,452,019 (GRCm38) W144C probably benign Het
2810474O19Rik T A 6: 149,328,844 (GRCm38) D1129E possibly damaging Het
2900092C05Rik A G 7: 12,554,655 (GRCm38) M132V probably benign Het
4921524L21Rik T A 18: 6,620,205 (GRCm38) I45N possibly damaging Het
9230113P08Rik A T 9: 35,908,619 (GRCm38) T23S probably benign Het
Abcb6 A G 1: 75,179,955 (GRCm38) V55A probably benign Het
Adam28 A T 14: 68,644,331 (GRCm38) D105E probably benign Het
Ahnak T C 19: 9,017,881 (GRCm38) S5510P probably damaging Het
Aldh3b1 T G 19: 3,921,187 (GRCm38) D159A probably damaging Het
Alx1 A G 10: 103,025,361 (GRCm38) L102P probably damaging Het
Ankrd50 C T 3: 38,456,776 (GRCm38) V481I probably benign Het
Aox4 G T 1: 58,264,402 (GRCm38) G1200W probably damaging Het
Arhgap45 A C 10: 80,020,690 (GRCm38) D24A probably benign Het
Arhgef16 A T 4: 154,280,323 (GRCm38) probably null Het
Asic4 A T 1: 75,469,232 (GRCm38) Y235F possibly damaging Het
Asph T C 4: 9,453,335 (GRCm38) E646G probably damaging Het
Atg4d A G 9: 21,272,639 (GRCm38) D350G probably damaging Het
Auts2 T C 5: 131,443,574 (GRCm38) T347A probably damaging Het
Bsnd A T 4: 106,488,030 (GRCm38) L73* probably null Het
Cachd1 A T 4: 100,953,169 (GRCm38) S323C probably damaging Het
Cacna1e A G 1: 154,436,449 (GRCm38) I1290T probably damaging Het
Cdh8 T A 8: 99,098,870 (GRCm38) N498Y probably damaging Het
Cdkn3 A G 14: 46,769,834 (GRCm38) probably null Het
Celf2 A T 2: 6,615,753 (GRCm38) M40K probably damaging Het
Cfap57 A C 4: 118,615,010 (GRCm38) S57R probably damaging Het
Cfh A G 1: 140,136,141 (GRCm38) probably null Het
Chdh A G 14: 30,032,788 (GRCm38) S252G probably benign Het
Col8a1 T A 16: 57,627,924 (GRCm38) I408F unknown Het
Corin C T 5: 72,358,403 (GRCm38) C303Y probably damaging Het
Crlf2 C T 5: 109,557,141 (GRCm38) C66Y possibly damaging Het
Csmd1 C T 8: 16,233,998 (GRCm38) probably null Het
Cyp4f16 T C 17: 32,545,044 (GRCm38) V270A probably damaging Het
Defa29 T A 8: 21,326,012 (GRCm38) H113L possibly damaging Het
Dhx35 A T 2: 158,842,307 (GRCm38) N501Y probably damaging Het
Dst A G 1: 34,291,850 (GRCm38) R4690G probably damaging Het
Elac2 T A 11: 64,994,263 (GRCm38) D439E probably benign Het
Ercc6 A G 14: 32,576,803 (GRCm38) R1383G probably damaging Het
Fam69b A G 2: 26,632,704 (GRCm38) E55G probably damaging Het
Fat3 T A 9: 15,969,988 (GRCm38) Y3196F probably damaging Het
Fbxw13 A T 9: 109,181,543 (GRCm38) D342E probably benign Het
Fmod A G 1: 134,040,720 (GRCm38) N166S possibly damaging Het
Folh1 A G 7: 86,762,967 (GRCm38) S199P possibly damaging Het
Fv1 A G 4: 147,869,778 (GRCm38) N267S possibly damaging Het
Fyn T C 10: 39,526,832 (GRCm38) V200A possibly damaging Het
Ggnbp2 T C 11: 84,862,296 (GRCm38) N39S probably benign Het
Gm10509 A T 17: 21,690,924 (GRCm38) I53F possibly damaging Het
Gpr139 A T 7: 119,144,879 (GRCm38) I161N possibly damaging Het
Grhl2 C T 15: 37,358,407 (GRCm38) T148I probably damaging Het
Hmcn1 C A 1: 150,604,882 (GRCm38) M4514I probably benign Het
Igsf10 T G 3: 59,329,572 (GRCm38) T1063P probably benign Het
Itgav A G 2: 83,795,486 (GRCm38) Y792C possibly damaging Het
Itgb2l T C 16: 96,426,935 (GRCm38) Q456R probably benign Het
Jph4 G A 14: 55,108,361 (GRCm38) A613V probably benign Het
Kcna2 A G 3: 107,105,401 (GRCm38) T433A probably benign Het
Kmt2e A G 5: 23,492,395 (GRCm38) K97R probably benign Het
Krba1 C A 6: 48,415,765 (GRCm38) A871E probably benign Het
Loxhd1 T C 18: 77,340,137 (GRCm38) F468L probably benign Het
Lpin1 A G 12: 16,546,727 (GRCm38) V713A probably damaging Het
Ltbp2 T A 12: 84,785,863 (GRCm38) I67F probably damaging Het
Mdc1 G A 17: 35,844,538 (GRCm38) R35H probably benign Het
Mdc1 A G 17: 35,850,811 (GRCm38) D872G probably benign Het
Mgam C T 6: 40,764,185 (GRCm38) Q959* probably null Het
Mttp T A 3: 138,116,027 (GRCm38) T260S probably benign Het
Naalad2 A T 9: 18,376,535 (GRCm38) D266E probably benign Het
Nans T A 4: 46,500,162 (GRCm38) L182H probably damaging Het
Nbas T A 12: 13,566,144 (GRCm38) C2228S probably benign Het
Nfix A T 8: 84,721,677 (GRCm38) V407E probably damaging Het
Nktr T A 9: 121,750,240 (GRCm38) probably benign Het
Nlrp10 G A 7: 108,925,395 (GRCm38) R293* probably null Het
Nrxn3 T C 12: 88,795,342 (GRCm38) F53S probably damaging Het
Olfr1126 T C 2: 87,457,383 (GRCm38) S73P probably damaging Het
Olfr212 A G 6: 116,515,989 (GRCm38) T71A probably benign Het
Olfr380 A T 11: 73,453,994 (GRCm38) F73I probably damaging Het
Olfr402 T C 11: 74,155,885 (GRCm38) C244R probably damaging Het
Olfr452 T C 6: 42,790,477 (GRCm38) I146T probably benign Het
Olfr493 A G 7: 108,346,807 (GRCm38) L58P probably damaging Het
Olfr994 T A 2: 85,430,260 (GRCm38) N190Y probably damaging Het
Oxld1 A G 11: 120,456,906 (GRCm38) V155A probably damaging Het
Pamr1 T A 2: 102,642,300 (GRCm38) F648Y probably damaging Het
Parg T C 14: 32,210,540 (GRCm38) W446R probably damaging Het
Phf3 A T 1: 30,804,345 (GRCm38) H1844Q probably damaging Het
Phf7 T C 14: 31,240,324 (GRCm38) I175V possibly damaging Het
Pibf1 G A 14: 99,187,809 (GRCm38) probably null Het
Plcxd1 A G 5: 110,103,442 (GRCm38) I295V probably benign Het
Pole2 A C 12: 69,209,990 (GRCm38) Y254D probably damaging Het
Ppm1e T A 11: 87,244,370 (GRCm38) I225F probably benign Het
Rem1 G A 2: 152,634,535 (GRCm38) V238M probably damaging Het
Rnase2b T G 14: 51,162,900 (GRCm38) V146G probably damaging Het
Rnf169 G A 7: 99,926,254 (GRCm38) T378I probably damaging Het
Rpf2 A G 10: 40,236,201 (GRCm38) F80L probably benign Het
Sec11c T A 18: 65,814,874 (GRCm38) D128E probably damaging Het
Sept12 A G 16: 4,988,553 (GRCm38) V248A probably damaging Het
Serinc1 T C 10: 57,525,451 (GRCm38) N82S probably benign Het
Serpina9 A C 12: 104,001,249 (GRCm38) W296G probably damaging Het
Sgo2b A C 8: 63,931,469 (GRCm38) D164E probably damaging Het
Slc15a3 A G 19: 10,848,613 (GRCm38) N223D probably damaging Het
Slc44a3 A G 3: 121,532,166 (GRCm38) Y12H probably benign Het
Slco3a1 A G 7: 74,504,611 (GRCm38) F42S probably damaging Het
Snrnp40 C G 4: 130,378,043 (GRCm38) probably null Het
Snx7 A T 3: 117,829,668 (GRCm38) probably null Het
Sorl1 A T 9: 42,081,950 (GRCm38) D259E probably damaging Het
Stpg2 G A 3: 139,522,981 (GRCm38) probably null Het
Strn T A 17: 78,684,395 (GRCm38) Y165F probably damaging Het
Sval2 T A 6: 41,864,320 (GRCm38) *106R probably null Het
Tcaf3 A G 6: 42,596,688 (GRCm38) S197P possibly damaging Het
Tespa1 C A 10: 130,354,723 (GRCm38) T73N probably benign Het
Tex10 C T 4: 48,456,800 (GRCm38) R637Q probably benign Het
Thoc5 C A 11: 4,915,561 (GRCm38) T380K probably benign Het
Tmprss7 T A 16: 45,656,548 (GRCm38) R784* probably null Het
Trank1 A T 9: 111,390,709 (GRCm38) L2171F probably benign Het
Trpm2 T G 10: 77,945,876 (GRCm38) K303T probably benign Het
Tsta3 A T 15: 75,925,649 (GRCm38) D278E possibly damaging Het
Unc80 G A 1: 66,510,625 (GRCm38) V681M probably damaging Het
Usp40 A G 1: 87,946,646 (GRCm38) F1131L probably benign Het
Vmn1r215 A T 13: 23,076,503 (GRCm38) I238F possibly damaging Het
Vwa3a A T 7: 120,795,627 (GRCm38) Y890F probably damaging Het
Zdhhc18 A G 4: 133,613,860 (GRCm38) L234P probably damaging Het
Zfp109 A G 7: 24,228,251 (GRCm38) S578P probably damaging Het
Zfp704 T C 3: 9,609,358 (GRCm38) D121G unknown Het
Zgrf1 G T 3: 127,563,137 (GRCm38) V671L probably benign Het
Zkscan8 A T 13: 21,520,757 (GRCm38) C265* probably null Het
Zscan26 T C 13: 21,445,140 (GRCm38) I398V possibly damaging Het
Other mutations in Olfr749
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03188:Olfr749 APN 14 50,736,858 (GRCm38) nonsense probably null
R0141:Olfr749 UTSW 14 50,736,383 (GRCm38) missense possibly damaging 0.94
R0462:Olfr749 UTSW 14 50,737,097 (GRCm38) missense probably benign
R1424:Olfr749 UTSW 14 50,737,064 (GRCm38) missense probably benign
R1791:Olfr749 UTSW 14 50,736,687 (GRCm38) small insertion probably benign
R2069:Olfr749 UTSW 14 50,736,576 (GRCm38) missense possibly damaging 0.51
R2171:Olfr749 UTSW 14 50,736,419 (GRCm38) missense probably benign 0.33
R2176:Olfr749 UTSW 14 50,736,224 (GRCm38) missense probably benign
R2184:Olfr749 UTSW 14 50,736,602 (GRCm38) missense probably damaging 0.98
R3158:Olfr749 UTSW 14 50,736,814 (GRCm38) missense probably benign 0.01
R5068:Olfr749 UTSW 14 50,737,074 (GRCm38) missense probably benign 0.02
R5069:Olfr749 UTSW 14 50,737,074 (GRCm38) missense probably benign 0.02
R5070:Olfr749 UTSW 14 50,737,074 (GRCm38) missense probably benign 0.02
R5733:Olfr749 UTSW 14 50,737,052 (GRCm38) missense probably benign 0.32
R6155:Olfr749 UTSW 14 50,736,619 (GRCm38) missense probably benign 0.02
R6728:Olfr749 UTSW 14 50,736,839 (GRCm38) missense possibly damaging 0.61
R7033:Olfr749 UTSW 14 50,736,707 (GRCm38) missense possibly damaging 0.78
R7276:Olfr749 UTSW 14 50,736,730 (GRCm38) missense possibly damaging 0.90
R7535:Olfr749 UTSW 14 50,736,665 (GRCm38) missense probably benign 0.37
R8124:Olfr749 UTSW 14 50,736,286 (GRCm38) missense probably benign 0.03
R9021:Olfr749 UTSW 14 50,737,097 (GRCm38) missense probably benign
R9632:Olfr749 UTSW 14 50,736,742 (GRCm38) missense probably benign 0.42
R9710:Olfr749 UTSW 14 50,736,742 (GRCm38) missense probably benign 0.42
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-06-30