Incidental Mutation 'IGL01120:Or10ab4'
ID 51589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10ab4
Ensembl Gene ENSMUSG00000043855
Gene Name olfactory receptor family 10 subfamily AB member 4
Synonyms Olfr479, MOR267-15, GA_x6K02T2PBJ9-10384085-10385068
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL01120
Quality Score
Status
Chromosome 7
Chromosomal Location 107654191-107655174 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 107654774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 195 (M195R)
Ref Sequence ENSEMBL: ENSMUSP00000149060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063151] [ENSMUST00000209805] [ENSMUST00000214599]
AlphaFold Q7TRV1
Predicted Effect probably damaging
Transcript: ENSMUST00000063151
AA Change: M195R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056631
Gene: ENSMUSG00000043855
AA Change: M195R

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 7.5e-45 PFAM
Pfam:7tm_1 39 301 1.9e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209805
AA Change: M195R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000214599
AA Change: M195R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 T A 5: 135,040,329 (GRCm39) probably null Het
Armcx5 T C X: 134,647,112 (GRCm39) I396T probably damaging Het
Atm T C 9: 53,372,422 (GRCm39) probably null Het
Atp6v1c2 C T 12: 17,358,294 (GRCm39) E88K probably damaging Het
Caskin1 A G 17: 24,724,343 (GRCm39) T1044A possibly damaging Het
Cyp3a59 T A 5: 146,039,671 (GRCm39) S315T probably damaging Het
Dnaja1 T A 4: 40,730,248 (GRCm39) I240N probably damaging Het
Dnttip2 C T 3: 122,072,386 (GRCm39) probably benign Het
Elavl2 A T 4: 91,152,309 (GRCm39) M136K probably damaging Het
Eml5 C T 12: 98,810,278 (GRCm39) V893I probably benign Het
Fbxw4 G T 19: 45,628,955 (GRCm39) A2E probably benign Het
Flg2 T G 3: 93,108,475 (GRCm39) S168A probably damaging Het
Fndc3a G A 14: 72,794,102 (GRCm39) T857I probably benign Het
Gria1 A G 11: 57,208,495 (GRCm39) K797E probably damaging Het
Herc1 T C 9: 66,336,162 (GRCm39) F1569S probably benign Het
Kash5 G T 7: 44,833,622 (GRCm39) S560Y probably damaging Het
Lrrc45 T C 11: 120,610,836 (GRCm39) V524A probably benign Het
Myo19 T C 11: 84,798,104 (GRCm39) L708P probably damaging Het
Nup107 A G 10: 117,606,146 (GRCm39) probably benign Het
Or52h9 T C 7: 104,202,552 (GRCm39) V142A probably benign Het
Palm A G 10: 79,652,621 (GRCm39) probably benign Het
Phf14 T C 6: 11,962,739 (GRCm39) V462A probably damaging Het
Pkhd1l1 G A 15: 44,368,708 (GRCm39) probably null Het
Pkp3 T A 7: 140,664,095 (GRCm39) L424* probably null Het
Prss29 A G 17: 25,541,107 (GRCm39) K184E probably benign Het
Prss3b A T 6: 41,008,607 (GRCm39) Y236N probably damaging Het
Ptcd1 C T 5: 145,089,053 (GRCm39) probably benign Het
Pth1r T C 9: 110,556,198 (GRCm39) H225R probably damaging Het
Rffl C T 11: 82,696,848 (GRCm39) V332I probably damaging Het
Rsl1 T C 13: 67,325,230 (GRCm39) probably benign Het
Scart2 T C 7: 139,876,472 (GRCm39) L648P probably benign Het
Scn9a T C 2: 66,357,316 (GRCm39) K986R probably benign Het
Slc22a15 A G 3: 101,804,482 (GRCm39) L181P probably damaging Het
Slc34a1 T A 13: 55,556,884 (GRCm39) L241H probably damaging Het
Slc4a4 C A 5: 89,280,238 (GRCm39) H354Q probably damaging Het
Sorcs2 T C 5: 36,178,596 (GRCm39) E1131G probably damaging Het
Ssc4d C A 5: 135,996,817 (GRCm39) D95Y probably damaging Het
Tcte1 A T 17: 45,850,594 (GRCm39) D290V probably damaging Het
Thyn1 T A 9: 26,915,070 (GRCm39) M74K probably benign Het
Tlr4 C T 4: 66,758,662 (GRCm39) T485I probably benign Het
Trem1 A G 17: 48,544,277 (GRCm39) T101A probably benign Het
Ttc17 T C 2: 94,202,141 (GRCm39) E387G probably damaging Het
Vmn2r103 A T 17: 20,013,259 (GRCm39) T127S probably benign Het
Other mutations in Or10ab4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Or10ab4 APN 7 107,654,188 (GRCm39) utr 5 prime probably benign
IGL01322:Or10ab4 APN 7 107,654,188 (GRCm39) utr 5 prime probably benign
R0396:Or10ab4 UTSW 7 107,655,170 (GRCm39) missense probably benign 0.11
R0539:Or10ab4 UTSW 7 107,655,029 (GRCm39) missense probably damaging 1.00
R2129:Or10ab4 UTSW 7 107,655,111 (GRCm39) missense probably benign 0.25
R2246:Or10ab4 UTSW 7 107,654,989 (GRCm39) missense probably benign 0.00
R2247:Or10ab4 UTSW 7 107,654,989 (GRCm39) missense probably benign 0.00
R3149:Or10ab4 UTSW 7 107,654,989 (GRCm39) missense probably benign 0.00
R3709:Or10ab4 UTSW 7 107,655,004 (GRCm39) missense possibly damaging 0.63
R3714:Or10ab4 UTSW 7 107,654,642 (GRCm39) missense probably damaging 0.99
R4326:Or10ab4 UTSW 7 107,654,362 (GRCm39) missense probably damaging 1.00
R4962:Or10ab4 UTSW 7 107,654,647 (GRCm39) missense probably benign 0.27
R5053:Or10ab4 UTSW 7 107,654,741 (GRCm39) missense probably benign 0.10
R5976:Or10ab4 UTSW 7 107,655,005 (GRCm39) missense possibly damaging 0.89
R6151:Or10ab4 UTSW 7 107,655,106 (GRCm39) missense probably benign
R6939:Or10ab4 UTSW 7 107,654,312 (GRCm39) missense possibly damaging 0.87
R7271:Or10ab4 UTSW 7 107,654,423 (GRCm39) missense probably damaging 1.00
R8956:Or10ab4 UTSW 7 107,655,160 (GRCm39) missense probably benign 0.13
R9250:Or10ab4 UTSW 7 107,655,014 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21