Incidental Mutation 'IGL00951:Or5h18'
ID 29173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5h18
Ensembl Gene ENSMUSG00000047960
Gene Name olfactory receptor family 5 subfamily H member 18
Synonyms Olfr186, GA_x54KRFPKG5P-55257214-55256285, MOR183-9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL00951
Quality Score
Status
Chromosome 16
Chromosomal Location 58847286-58848290 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58848216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 18 (T18I)
Ref Sequence ENSEMBL: ENSMUSP00000150366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062380] [ENSMUST00000206463] [ENSMUST00000216415]
AlphaFold Q8VEX5
Predicted Effect probably benign
Transcript: ENSMUST00000062380
AA Change: T18I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000056448
Gene: ENSMUSG00000047960
AA Change: T18I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.4e-49 PFAM
Pfam:7tm_1 41 290 7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205894
Predicted Effect probably benign
Transcript: ENSMUST00000206463
AA Change: T18I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000216415
AA Change: T18I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
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
Armc8 C A 9: 99,387,757 (GRCm39) R388L probably benign Het
Bcan T C 3: 87,901,481 (GRCm39) E407G probably damaging Het
Brms1l A G 12: 55,912,834 (GRCm39) I276V possibly damaging Het
Brpf1 C A 6: 113,299,514 (GRCm39) D1182E probably damaging Het
Clpb A G 7: 101,400,467 (GRCm39) M268V probably benign Het
Cpne8 A T 15: 90,486,096 (GRCm39) probably benign Het
Ddx25 A T 9: 35,464,131 (GRCm39) probably null Het
Dgki A G 6: 36,977,094 (GRCm39) M672T probably damaging Het
Fhdc1 T C 3: 84,371,620 (GRCm39) T112A possibly damaging Het
Galnt7 A T 8: 58,036,858 (GRCm39) M177K probably damaging Het
Gucy1a1 T C 3: 82,018,498 (GRCm39) D113G probably benign Het
Hp T C 8: 110,304,129 (GRCm39) D24G possibly damaging Het
Jak2 A G 19: 29,276,983 (GRCm39) R847G probably damaging Het
Lama2 A T 10: 26,906,281 (GRCm39) D2391E probably benign Het
Mpzl1 A G 1: 165,433,391 (GRCm39) F87L probably damaging Het
Ms4a4d A T 19: 11,532,285 (GRCm39) I144F probably benign Het
Or5h23 A C 16: 58,906,756 (GRCm39) L30R possibly damaging Het
Or5i1 A T 2: 87,612,883 (GRCm39) I2F probably benign Het
Or6c219 A G 10: 129,781,581 (GRCm39) S2P probably damaging Het
Or6d14 G A 6: 116,534,027 (GRCm39) V214I probably benign Het
Prr16 A G 18: 51,436,411 (GRCm39) R297G probably damaging Het
Ralgps1 A C 2: 33,163,614 (GRCm39) L148V probably damaging Het
Rara A G 11: 98,858,992 (GRCm39) D150G probably benign Het
Rb1 A T 14: 73,559,512 (GRCm39) V64D probably damaging Het
Ros1 A G 10: 52,019,348 (GRCm39) Y742H probably damaging Het
Rpl7a A G 2: 26,802,441 (GRCm39) D160G possibly damaging Het
Sdccag8 A G 1: 176,705,568 (GRCm39) M461V possibly damaging Het
Tagln T A 9: 45,842,170 (GRCm39) N141I probably benign Het
Tas2r140 A T 6: 40,468,913 (GRCm39) R248* probably null Het
Ube2j2 C T 4: 156,030,834 (GRCm39) probably benign Het
Ulk1 A G 5: 110,940,270 (GRCm39) C384R possibly damaging Het
Ush2a A T 1: 187,995,662 (GRCm39) E144D probably benign Het
Vkorc1l1 C T 5: 130,011,108 (GRCm39) T144I probably benign Het
Zfp235 T C 7: 23,836,505 (GRCm39) F17S probably damaging Het
Other mutations in Or5h18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Or5h18 APN 16 58,847,994 (GRCm39) missense possibly damaging 0.48
IGL01102:Or5h18 APN 16 58,848,192 (GRCm39) missense probably benign 0.03
IGL01348:Or5h18 APN 16 58,848,157 (GRCm39) missense probably damaging 1.00
IGL01399:Or5h18 APN 16 58,847,629 (GRCm39) missense probably benign 0.05
IGL02088:Or5h18 APN 16 58,847,415 (GRCm39) missense probably damaging 1.00
R0047:Or5h18 UTSW 16 58,847,587 (GRCm39) missense probably benign 0.00
R0479:Or5h18 UTSW 16 58,847,491 (GRCm39) missense possibly damaging 0.64
R0866:Or5h18 UTSW 16 58,847,791 (GRCm39) missense probably benign
R0926:Or5h18 UTSW 16 58,848,051 (GRCm39) missense possibly damaging 0.80
R1760:Or5h18 UTSW 16 58,847,350 (GRCm39) missense probably benign 0.01
R1955:Or5h18 UTSW 16 58,847,774 (GRCm39) missense probably damaging 0.99
R2085:Or5h18 UTSW 16 58,848,232 (GRCm39) missense probably benign 0.02
R2118:Or5h18 UTSW 16 58,848,178 (GRCm39) missense possibly damaging 0.78
R4156:Or5h18 UTSW 16 58,847,931 (GRCm39) missense probably damaging 1.00
R4287:Or5h18 UTSW 16 58,847,976 (GRCm39) missense probably benign 0.00
R4783:Or5h18 UTSW 16 58,848,260 (GRCm39) missense probably benign
R4885:Or5h18 UTSW 16 58,847,518 (GRCm39) missense probably damaging 1.00
R4947:Or5h18 UTSW 16 58,847,808 (GRCm39) missense probably damaging 0.98
R4965:Or5h18 UTSW 16 58,847,696 (GRCm39) missense probably damaging 1.00
R6314:Or5h18 UTSW 16 58,847,820 (GRCm39) missense probably benign 0.18
R7624:Or5h18 UTSW 16 58,847,382 (GRCm39) missense possibly damaging 0.80
R7683:Or5h18 UTSW 16 58,847,469 (GRCm39) missense probably benign
R8197:Or5h18 UTSW 16 58,847,448 (GRCm39) missense probably benign 0.03
R9048:Or5h18 UTSW 16 58,847,598 (GRCm39) missense probably benign 0.20
R9117:Or5h18 UTSW 16 58,847,653 (GRCm39) missense probably benign 0.12
R9309:Or5h18 UTSW 16 58,848,186 (GRCm39) missense probably damaging 1.00
R9444:Or5h18 UTSW 16 58,848,018 (GRCm39) missense probably benign 0.01
Posted On 2013-04-17