Incidental Mutation 'R5402:Olfr1193'
ID 430027
Institutional Source Beutler Lab
Gene Symbol Olfr1193
Ensembl Gene ENSMUSG00000060827
Gene Name olfactory receptor 1193
Synonyms GA_x6K02T2Q125-50154044-50154826, GA_x6K02T2Q125-50158288-50158818, Olfr1194-ps1, MOR226-1, MOR230-9
MMRRC Submission 042973-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R5402 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88675628-88681143 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88678148 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 98 (S98T)
Ref Sequence ENSEMBL: ENSMUSP00000080399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081697] [ENSMUST00000099818] [ENSMUST00000213545] [ENSMUST00000213893] [ENSMUST00000216767]
AlphaFold A2AV13
Predicted Effect possibly damaging
Transcript: ENSMUST00000081697
AA Change: S98T

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000080399
Gene: ENSMUSG00000060827
AA Change: S98T

DomainStartEndE-ValueType
Pfam:7tm_4 36 310 7.5e-51 PFAM
Pfam:7tm_1 46 292 7.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099818
SMART Domains Protein: ENSMUSP00000097406
Gene: ENSMUSG00000075121

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7TM_GPCR_Srsx 32 300 1.6e-5 PFAM
Pfam:7tm_1 39 285 5.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213545
Predicted Effect probably benign
Transcript: ENSMUST00000213893
AA Change: S91T

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216767
AA Change: S91T

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217271
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,459,715 D4079E probably benign Het
Bcar1 T C 8: 111,714,330 D344G probably damaging Het
Car9 A G 4: 43,510,213 N265S probably damaging Het
Ccr7 A G 11: 99,145,734 S121P possibly damaging Het
Cgnl1 A G 9: 71,629,321 L1278P probably damaging Het
Chst9 A T 18: 15,452,815 S230R probably damaging Het
Cped1 G A 6: 22,143,952 V566M probably benign Het
Csf2 A T 11: 54,247,663 Y117* probably null Het
Cwf19l1 C T 19: 44,133,085 probably null Het
Cyp2d34 C T 15: 82,619,086 G69D probably damaging Het
Dync2h1 A T 9: 7,114,949 V170E probably damaging Het
Ehbp1l1 T A 19: 5,716,320 T388S possibly damaging Het
Etfa T C 9: 55,454,739 I329M probably benign Het
Flt4 AC ACC 11: 49,651,034 probably null Het
Fmnl2 G A 2: 53,128,782 V1078I probably damaging Het
Fnip2 A G 3: 79,480,943 L797P possibly damaging Het
Gm10130 A G 2: 150,362,966 I67V probably benign Het
Gm13103 G A 4: 143,851,655 probably null Het
Gmeb2 A T 2: 181,255,957 probably null Het
Greb1l A G 18: 10,537,169 T1045A probably benign Het
Hapln1 A G 13: 89,605,411 N232S probably benign Het
Hibadh A T 6: 52,546,980 M311K probably benign Het
Hus1 C T 11: 9,010,240 probably null Het
Il31ra T C 13: 112,524,135 E640G probably benign Het
L3mbtl4 T C 17: 68,455,774 F101L probably damaging Het
Lbr A T 1: 181,819,961 M417K probably benign Het
Lrig3 T G 10: 126,008,740 L691R probably damaging Het
Mcm3ap T A 10: 76,483,314 F792Y probably benign Het
Mst1 T C 9: 108,084,209 probably null Het
Nova2 C A 7: 18,958,446 T500K probably damaging Het
Nxph4 A T 10: 127,526,264 C253S probably damaging Het
Olfr31 T C 14: 14,328,878 Y256H probably damaging Het
Pcdhga3 G A 18: 37,675,694 R400Q probably benign Het
Pidd1 C A 7: 141,438,594 A915S probably damaging Het
Plat T G 8: 22,772,722 W148G probably damaging Het
Polr3a T C 14: 24,454,941 I1084V possibly damaging Het
Ptdss1 A G 13: 66,933,599 D31G possibly damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Samd8 A G 14: 21,775,168 D64G probably damaging Het
Scgb1b20 A G 7: 33,373,231 probably null Het
Sh3bp5 C A 14: 31,377,495 R265L probably benign Het
Slc25a23 T C 17: 57,053,336 I269V probably benign Het
Slc35f4 A T 14: 49,318,874 S141T probably damaging Het
Srgap1 T C 10: 121,785,760 M966V probably benign Het
Syne2 T A 12: 76,059,439 V5526E probably damaging Het
Tcaf3 A G 6: 42,591,926 S596P probably benign Het
Tg T A 15: 66,739,168 I356N probably damaging Het
Ttc6 C T 12: 57,737,031 R1759* probably null Het
Wdsub1 T C 2: 59,870,478 N138D probably benign Het
Other mutations in Olfr1193
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01939:Olfr1193 APN 2 88678733 missense probably damaging 1.00
R0322:Olfr1193 UTSW 2 88678667 missense probably damaging 0.98
R0711:Olfr1193 UTSW 2 88678674 missense probably damaging 1.00
R1500:Olfr1193 UTSW 2 88677875 missense possibly damaging 0.73
R1610:Olfr1193 UTSW 2 88678574 nonsense probably null
R4380:Olfr1193 UTSW 2 88678271 missense possibly damaging 0.61
R4602:Olfr1193 UTSW 2 88677896 missense probably benign 0.08
R4602:Olfr1193 UTSW 2 88678179 missense probably benign
R4610:Olfr1193 UTSW 2 88677896 missense probably benign 0.08
R4610:Olfr1193 UTSW 2 88678179 missense probably benign
R4790:Olfr1193 UTSW 2 88678387 missense possibly damaging 0.73
R4803:Olfr1193 UTSW 2 88678022 missense probably benign 0.34
R5736:Olfr1193 UTSW 2 88678641 missense probably benign 0.00
R6896:Olfr1193 UTSW 2 88677996 missense probably damaging 1.00
R6998:Olfr1193 UTSW 2 88678508 missense probably benign 0.23
R7038:Olfr1193 UTSW 2 88678741 missense probably damaging 1.00
R8806:Olfr1193 UTSW 2 88678611 missense probably benign 0.01
R9285:Olfr1193 UTSW 2 88678336 missense probably damaging 1.00
X0022:Olfr1193 UTSW 2 88678320 missense probably benign 0.08
Z1088:Olfr1193 UTSW 2 88678664 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATTCTGCTAGGAAACCTCC -3'
(R):5'- ATTCGGTCCACAAAAGGGG -3'

Sequencing Primer
(F):5'- GGAAACCTCCTCATCATGTTGACAG -3'
(R):5'- GTAAGAAGCCACCGATCCATGTTC -3'
Posted On 2016-09-06