Incidental Mutation 'IGL01337:Or4a74'
ID 74666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4a74
Ensembl Gene ENSMUSG00000075081
Gene Name olfactory receptor family 4 subfamily A member 74
Synonyms GA_x6K02T2Q125-51051555-51050611, Olfr1247, MOR231-6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL01337
Quality Score
Status
Chromosome 2
Chromosomal Location 89439433-89440497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89439720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 242 (I242T)
Ref Sequence ENSEMBL: ENSMUSP00000149408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099771] [ENSMUST00000111532] [ENSMUST00000216424]
AlphaFold A2AT78
Predicted Effect probably damaging
Transcript: ENSMUST00000099771
AA Change: I242T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097359
Gene: ENSMUSG00000075081
AA Change: I242T

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 4.9e-29 PFAM
Pfam:7tm_4 137 278 4.2e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111532
AA Change: I242T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081
AA Change: I242T

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.2e-48 PFAM
Pfam:7tm_1 39 285 1.6e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216424
AA Change: I242T

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,645,529 (GRCm39) Y1025H probably damaging Het
Adarb2 T C 13: 8,620,282 (GRCm39) L256P probably benign Het
Arsj A G 3: 126,158,763 (GRCm39) Y114C probably damaging Het
Bdp1 G A 13: 100,192,700 (GRCm39) P1378L probably benign Het
Clca3a2 T C 3: 144,800,939 (GRCm39) Y138C probably damaging Het
Dsp G A 13: 38,376,663 (GRCm39) D1483N probably benign Het
Etl4 T C 2: 20,790,198 (GRCm39) S617P probably benign Het
Fbxo34 T C 14: 47,767,674 (GRCm39) S345P probably benign Het
Gm5420 A G 10: 21,567,514 (GRCm39) noncoding transcript Het
Gpr182 T A 10: 127,586,655 (GRCm39) I99F possibly damaging Het
Hectd1 A G 12: 51,849,057 (GRCm39) I349T possibly damaging Het
Kifc5b A G 17: 27,143,718 (GRCm39) T497A possibly damaging Het
Mllt3 A C 4: 87,759,057 (GRCm39) D330E probably damaging Het
Mpp3 T C 11: 101,891,411 (GRCm39) T576A probably benign Het
Mroh2b A G 15: 4,934,506 (GRCm39) M126V probably benign Het
Naalad2 T G 9: 18,238,669 (GRCm39) D644A probably damaging Het
Otof C A 5: 30,563,121 (GRCm39) A242S possibly damaging Het
Otof T C 5: 30,576,856 (GRCm39) D132G probably benign Het
Pdk4 T A 6: 5,491,869 (GRCm39) M68L probably benign Het
Ptprf A G 4: 118,093,488 (GRCm39) Y385H probably damaging Het
Rxrb A G 17: 34,255,605 (GRCm39) N254S probably damaging Het
Samd5 T A 10: 9,504,768 (GRCm39) Y162F probably benign Het
Sapcd2 A G 2: 25,266,491 (GRCm39) *392W probably null Het
Senp6 T C 9: 80,043,792 (GRCm39) Y635H probably damaging Het
Serpine1 C A 5: 137,098,185 (GRCm39) V163L probably damaging Het
Slc15a1 T C 14: 121,698,091 (GRCm39) E678G possibly damaging Het
Slc22a16 T C 10: 40,471,310 (GRCm39) F494L possibly damaging Het
Slc5a12 T A 2: 110,450,718 (GRCm39) C304* probably null Het
Spink1 G A 18: 43,870,216 (GRCm39) probably benign Het
Star G A 8: 26,299,892 (GRCm39) G78E probably damaging Het
Stx1a T C 5: 135,074,518 (GRCm39) I203T probably damaging Het
Tap2 A G 17: 34,424,386 (GRCm39) probably benign Het
Trim75 T C 8: 65,436,387 (GRCm39) D21G possibly damaging Het
Vmn1r62 T A 7: 5,679,144 (GRCm39) I275N probably damaging Het
Other mutations in Or4a74
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Or4a74 APN 2 89,440,191 (GRCm39) missense probably benign 0.00
IGL02537:Or4a74 APN 2 89,439,739 (GRCm39) missense possibly damaging 0.88
IGL02651:Or4a74 APN 2 89,439,842 (GRCm39) missense possibly damaging 0.67
IGL02734:Or4a74 APN 2 89,440,303 (GRCm39) missense probably benign 0.04
IGL03177:Or4a74 APN 2 89,439,826 (GRCm39) missense probably benign 0.03
IGL03184:Or4a74 APN 2 89,439,912 (GRCm39) missense probably damaging 1.00
R0207:Or4a74 UTSW 2 89,440,207 (GRCm39) missense probably damaging 0.97
R0278:Or4a74 UTSW 2 89,440,108 (GRCm39) missense probably damaging 1.00
R0278:Or4a74 UTSW 2 89,440,107 (GRCm39) missense probably damaging 1.00
R0601:Or4a74 UTSW 2 89,439,564 (GRCm39) missense probably benign 0.00
R0633:Or4a74 UTSW 2 89,439,718 (GRCm39) missense probably benign 0.10
R1824:Or4a74 UTSW 2 89,439,693 (GRCm39) missense probably damaging 1.00
R1863:Or4a74 UTSW 2 89,440,053 (GRCm39) nonsense probably null
R2073:Or4a74 UTSW 2 89,439,822 (GRCm39) missense probably benign 0.01
R2074:Or4a74 UTSW 2 89,439,822 (GRCm39) missense probably benign 0.01
R2075:Or4a74 UTSW 2 89,439,822 (GRCm39) missense probably benign 0.01
R3921:Or4a74 UTSW 2 89,439,853 (GRCm39) missense probably benign 0.00
R4559:Or4a74 UTSW 2 89,440,043 (GRCm39) missense probably damaging 0.99
R5128:Or4a74 UTSW 2 89,439,647 (GRCm39) missense probably damaging 1.00
R5140:Or4a74 UTSW 2 89,439,627 (GRCm39) missense probably damaging 1.00
R5426:Or4a74 UTSW 2 89,440,083 (GRCm39) missense probably damaging 1.00
R5896:Or4a74 UTSW 2 89,439,667 (GRCm39) missense probably damaging 0.98
R5902:Or4a74 UTSW 2 89,439,595 (GRCm39) missense probably damaging 1.00
R6478:Or4a74 UTSW 2 89,439,790 (GRCm39) missense probably damaging 1.00
R7143:Or4a74 UTSW 2 89,440,363 (GRCm39) missense probably benign 0.00
R7221:Or4a74 UTSW 2 89,440,272 (GRCm39) missense probably damaging 1.00
R7599:Or4a74 UTSW 2 89,439,571 (GRCm39) missense possibly damaging 0.89
R8709:Or4a74 UTSW 2 89,440,366 (GRCm39) missense probably benign 0.00
R8711:Or4a74 UTSW 2 89,440,291 (GRCm39) missense probably benign 0.05
R8721:Or4a74 UTSW 2 89,440,186 (GRCm39) missense probably benign 0.05
R9278:Or4a74 UTSW 2 89,439,948 (GRCm39) missense probably damaging 1.00
R9630:Or4a74 UTSW 2 89,440,349 (GRCm39) missense probably benign
Posted On 2013-10-07