Incidental Mutation 'R6998:Olfr1193'
ID 544326
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 045010-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R6998 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 88675628-88681143 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88678508 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 218 (I218F)
Ref Sequence ENSEMBL: ENSMUSP00000080399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081697] [ENSMUST00000099818] [ENSMUST00000213545] [ENSMUST00000213893] [ENSMUST00000216767]
AlphaFold A2AV13
Predicted Effect probably benign
Transcript: ENSMUST00000081697
AA Change: I218F

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000080399
Gene: ENSMUSG00000060827
AA Change: I218F

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: I211F

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000216767
AA Change: I211F

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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
Adam30 A G 3: 98,162,710 (GRCm38) R620G probably benign Het
Adcy1 A C 11: 7,079,026 (GRCm38) N259H probably damaging Het
Ahctf1 G A 1: 179,770,915 (GRCm38) R2* probably null Het
Akr1c21 A G 13: 4,583,851 (GRCm38) I306M probably benign Het
Alg9 T A 9: 50,789,621 (GRCm38) S230R possibly damaging Het
Armt1 T A 10: 4,453,937 (GRCm38) C341S probably benign Het
Aspg T A 12: 112,112,194 (GRCm38) L29M probably damaging Het
Aspm C T 1: 139,469,472 (GRCm38) T934I probably damaging Het
C1rl T C 6: 124,508,902 (GRCm38) S411P probably damaging Het
Card14 A G 11: 119,322,899 (GRCm38) E224G probably damaging Het
Ccdc88c T C 12: 100,916,852 (GRCm38) H1587R probably damaging Het
Ccp110 A G 7: 118,732,897 (GRCm38) T963A possibly damaging Het
Cdk11b G A 4: 155,648,343 (GRCm38) W546* probably null Het
Cyp8b1 T C 9: 121,915,993 (GRCm38) N91S probably benign Het
Dab2 G T 15: 6,424,649 (GRCm38) M213I possibly damaging Het
Decr1 A G 4: 15,930,960 (GRCm38) V124A probably damaging Het
Fbxl13 T C 5: 21,620,613 (GRCm38) I164V probably null Het
Fbxl13 T A 5: 21,543,689 (GRCm38) I411F probably damaging Het
Fndc7 G A 3: 108,876,648 (GRCm38) A215V probably benign Het
Garem2 T C 5: 30,114,170 (GRCm38) M210T possibly damaging Het
Gpatch2l G A 12: 86,244,184 (GRCm38) R47H probably damaging Het
Ighv1-52 C A 12: 115,145,492 (GRCm38) A115S probably benign Het
Igkv6-13 A G 6: 70,457,589 (GRCm38) S91P probably damaging Het
Ints8 T A 4: 11,204,537 (GRCm38) E973V possibly damaging Het
Itga3 T C 11: 95,051,462 (GRCm38) K972R probably benign Het
Klhl33 A T 14: 50,893,021 (GRCm38) F339I probably benign Het
Krt79 T C 15: 101,937,872 (GRCm38) M214V probably benign Het
Lgsn A T 1: 31,204,193 (GRCm38) H452L probably benign Het
Limd2 C T 11: 106,158,690 (GRCm38) G124D probably benign Het
Luzp1 T C 4: 136,543,444 (GRCm38) S993P probably damaging Het
Maml2 C T 9: 13,621,185 (GRCm38) probably benign Het
Mbtd1 A T 11: 93,924,612 (GRCm38) H342L probably damaging Het
Mfhas1 C A 8: 35,591,356 (GRCm38) P995Q probably damaging Het
Muc5ac T C 7: 141,818,714 (GRCm38) F3399S possibly damaging Het
Napb T C 2: 148,700,425 (GRCm38) Y205C probably damaging Het
Odf2 G T 2: 29,912,617 (GRCm38) A298S probably benign Het
Olfr1082 A T 2: 86,594,144 (GRCm38) M228K probably damaging Het
Olfr740 A T 14: 50,453,433 (GRCm38) Y127F probably benign Het
Pcsk5 T C 19: 17,473,112 (GRCm38) D1124G probably benign Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm38) probably benign Het
Pik3c2b T G 1: 133,102,372 (GRCm38) I1457S probably benign Het
Pole2 T C 12: 69,213,906 (GRCm38) T167A possibly damaging Het
Rfx7 T A 9: 72,618,505 (GRCm38) S992R probably damaging Het
Ryr2 G T 13: 11,712,166 (GRCm38) S2436R probably damaging Het
Sgo2a A G 1: 58,016,640 (GRCm38) D661G probably damaging Het
Sh3glb2 T A 2: 30,355,321 (GRCm38) T49S probably damaging Het
Slc16a10 T C 10: 40,056,503 (GRCm38) K354R possibly damaging Het
Slc6a6 C A 6: 91,752,438 (GRCm38) T568K probably benign Het
Sptbn1 T C 11: 30,100,633 (GRCm38) T2319A probably damaging Het
Tbl1xr1 T A 3: 22,179,290 (GRCm38) Y15N probably damaging Het
Thyn1 T C 9: 27,006,442 (GRCm38) S160P probably damaging Het
Tshz1 A T 18: 84,015,841 (GRCm38) D147E probably benign Het
Vmn2r50 T G 7: 10,037,757 (GRCm38) R672S probably benign Het
Zfp663 A T 2: 165,354,002 (GRCm38) I99N possibly damaging Het
Other mutations in Olfr1193
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01939:Olfr1193 APN 2 88,678,733 (GRCm38) missense probably damaging 1.00
R0322:Olfr1193 UTSW 2 88,678,667 (GRCm38) missense probably damaging 0.98
R0711:Olfr1193 UTSW 2 88,678,674 (GRCm38) missense probably damaging 1.00
R1500:Olfr1193 UTSW 2 88,677,875 (GRCm38) missense possibly damaging 0.73
R1610:Olfr1193 UTSW 2 88,678,574 (GRCm38) nonsense probably null
R4380:Olfr1193 UTSW 2 88,678,271 (GRCm38) missense possibly damaging 0.61
R4602:Olfr1193 UTSW 2 88,678,179 (GRCm38) missense probably benign
R4602:Olfr1193 UTSW 2 88,677,896 (GRCm38) missense probably benign 0.08
R4610:Olfr1193 UTSW 2 88,678,179 (GRCm38) missense probably benign
R4610:Olfr1193 UTSW 2 88,677,896 (GRCm38) missense probably benign 0.08
R4790:Olfr1193 UTSW 2 88,678,387 (GRCm38) missense possibly damaging 0.73
R4803:Olfr1193 UTSW 2 88,678,022 (GRCm38) missense probably benign 0.34
R5402:Olfr1193 UTSW 2 88,678,148 (GRCm38) missense possibly damaging 0.74
R5736:Olfr1193 UTSW 2 88,678,641 (GRCm38) missense probably benign 0.00
R6896:Olfr1193 UTSW 2 88,677,996 (GRCm38) missense probably damaging 1.00
R7038:Olfr1193 UTSW 2 88,678,741 (GRCm38) missense probably damaging 1.00
R8806:Olfr1193 UTSW 2 88,678,611 (GRCm38) missense probably benign 0.01
R9285:Olfr1193 UTSW 2 88,678,336 (GRCm38) missense probably damaging 1.00
X0022:Olfr1193 UTSW 2 88,678,320 (GRCm38) missense probably benign 0.08
Z1088:Olfr1193 UTSW 2 88,678,664 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGATCGGTGGCTTCTTAC -3'
(R):5'- TTCAGCATGGGAGTGATAATGG -3'

Sequencing Primer
(F):5'- CTTACATTCTATTATCCAAGTGGCTC -3'
(R):5'- ATATAGCTACCATCTTGTCCTCAGAG -3'
Posted On 2019-05-13