Incidental Mutation 'IGL02349:Olfr348'
ID289404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr348
Ensembl Gene ENSMUSG00000049315
Gene Nameolfactory receptor 348
SynonymsGA_x6K02T2NLDC-33481050-33481991, MOR136-8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02349
Quality Score
Status
Chromosome2
Chromosomal Location36784276-36789998 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 36787046 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 174 (T174P)
Ref Sequence ENSEMBL: ENSMUSP00000150343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056865] [ENSMUST00000112950] [ENSMUST00000213498] [ENSMUST00000214909] [ENSMUST00000215199] [ENSMUST00000216753] [ENSMUST00000217041]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056865
AA Change: T174P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054037
Gene: ENSMUSG00000049315
AA Change: T174P

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 1.3e-56 PFAM
Pfam:7TM_GPCR_Srsx 36 306 3e-6 PFAM
Pfam:7tm_1 42 291 2.7e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112950
AA Change: T174P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: T174P

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 36 306 3e-6 PFAM
Pfam:7tm_1 42 291 3.5e-34 PFAM
Pfam:7tm_4 140 284 3.9e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213498
AA Change: T174P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214909
AA Change: T174P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215199
AA Change: T174P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000216753
Predicted Effect probably benign
Transcript: ENSMUST00000217041
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,406,464 I484V probably benign Het
Acly C T 11: 100,519,679 E158K probably benign Het
Akap3 T A 6: 126,860,263 D3E probably benign Het
Alg8 A G 7: 97,379,894 N152S possibly damaging Het
Ano7 A G 1: 93,391,490 T323A probably benign Het
Bmp1 T C 14: 70,507,549 Y252C possibly damaging Het
Cacnb3 A T 15: 98,640,961 K159* probably null Het
Capns2 T A 8: 92,902,062 V193D probably benign Het
Cct2 A G 10: 117,053,139 I48T probably benign Het
Cep152 A G 2: 125,594,956 S555P probably damaging Het
Col5a3 T C 9: 20,772,361 E1533G unknown Het
Cyp17a1 A G 19: 46,667,497 L451P probably damaging Het
D1Ertd622e A G 1: 97,646,052 L96P probably damaging Het
Dgcr8 T C 16: 18,280,306 E407G possibly damaging Het
Dhx57 T A 17: 80,255,571 N876Y probably damaging Het
Dnah7b T A 1: 46,099,503 L235* probably null Het
Fgfr2 A G 7: 130,242,606 Y50H probably damaging Het
Gars T A 6: 55,048,064 probably benign Het
Gfpt2 A T 11: 49,807,703 I42F probably benign Het
Glcci1 A G 6: 8,558,581 K35E probably damaging Het
Gpatch1 T A 7: 35,307,255 M163L probably damaging Het
Gpr132 T C 12: 112,852,855 Y117C probably damaging Het
Ints1 G A 5: 139,768,468 P650S probably damaging Het
Itga2b T C 11: 102,461,363 D464G probably damaging Het
Kansl2 C A 15: 98,529,446 G185C probably damaging Het
Kat6b T A 14: 21,637,593 M570K probably damaging Het
Map3k19 T A 1: 127,823,769 D615V possibly damaging Het
Map3k7cl A G 16: 87,556,013 probably benign Het
Msto1 A C 3: 88,910,898 S360R possibly damaging Het
Myo15b C A 11: 115,863,105 probably benign Het
Nhlrc2 T C 19: 56,591,719 V428A possibly damaging Het
Olfr33 G A 7: 102,714,126 R96C probably damaging Het
Olfr470 A G 7: 107,845,605 S43P probably benign Het
Olfr568 A T 7: 102,877,909 Y263F probably benign Het
Olfr61 T C 7: 140,638,471 F257L probably benign Het
Olfr874 T A 9: 37,746,206 M24K probably benign Het
Pcm1 G T 8: 41,288,155 probably null Het
Plekhg3 A T 12: 76,562,300 N149I probably damaging Het
Rbp3 C A 14: 33,955,719 H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 probably null Het
Scyl2 A T 10: 89,657,938 probably benign Het
Tas2r144 A C 6: 42,216,076 H250P probably benign Het
Tmppe T C 9: 114,405,200 V189A probably benign Het
Trp53bp1 G A 2: 121,199,074 S1875L probably damaging Het
Txnl4a T A 18: 80,218,729 L60H probably damaging Het
Upp2 A G 2: 58,777,886 D217G probably benign Het
Vmn2r74 A G 7: 85,952,516 L638P probably damaging Het
Vnn1 A G 10: 23,898,503 N148S possibly damaging Het
Xrcc1 C T 7: 24,567,042 Q241* probably null Het
Zfp990 A G 4: 145,530,877 probably benign Het
Other mutations in Olfr348
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01388:Olfr348 APN 2 36787355 missense probably benign 0.03
IGL01943:Olfr348 APN 2 36787083 missense probably benign 0.13
IGL02030:Olfr348 APN 2 36787398 missense probably damaging 1.00
IGL02338:Olfr348 APN 2 36786545 nonsense probably null
IGL02695:Olfr348 APN 2 36787320 missense possibly damaging 0.72
IGL03004:Olfr348 APN 2 36787182 missense probably damaging 1.00
IGL03007:Olfr348 APN 2 36786800 missense probably damaging 0.99
IGL03024:Olfr348 APN 2 36786846 missense possibly damaging 0.55
R0360:Olfr348 UTSW 2 36787440 missense probably benign 0.03
R0388:Olfr348 UTSW 2 36786862 missense probably benign 0.43
R0614:Olfr348 UTSW 2 36786693 missense probably damaging 1.00
R1498:Olfr348 UTSW 2 36787346 missense probably damaging 1.00
R1562:Olfr348 UTSW 2 36786684 missense probably damaging 1.00
R2882:Olfr348 UTSW 2 36787190 missense probably damaging 1.00
R3731:Olfr348 UTSW 2 36786566 missense possibly damaging 0.53
R4513:Olfr348 UTSW 2 36786770 missense probably benign 0.05
R4899:Olfr348 UTSW 2 36786798 missense probably benign 0.04
R5005:Olfr348 UTSW 2 36787358 missense probably benign
R5035:Olfr348 UTSW 2 36786891 missense probably damaging 1.00
R5490:Olfr348 UTSW 2 36787181 missense probably damaging 1.00
R6361:Olfr348 UTSW 2 36786780 missense probably damaging 1.00
R7762:Olfr348 UTSW 2 36787010 missense probably benign 0.03
R8223:Olfr348 UTSW 2 36787397 missense
Posted On2015-04-16