Incidental Mutation 'IGL00951:Or5h23'
ID 29172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5h23
Ensembl Gene ENSMUSG00000094539
Gene Name olfactory receptor family 5 subfamily H member 23
Synonyms Olfr191, MOR183-5P, GA_x54KRFPKG5P-55314632-55313703
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL00951
Quality Score
Status
Chromosome 16
Chromosomal Location 58905915-58906844 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 58906756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 30 (L30R)
Ref Sequence ENSEMBL: ENSMUSP00000150473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078517] [ENSMUST00000205471] [ENSMUST00000215647]
AlphaFold L7N1Z8
Predicted Effect possibly damaging
Transcript: ENSMUST00000078517
AA Change: L30R

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077604
Gene: ENSMUSG00000094539
AA Change: L30R

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4e-47 PFAM
Pfam:7tm_1 41 290 6.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205471
AA Change: L30R
Predicted Effect possibly damaging
Transcript: ENSMUST00000215647
AA Change: L30R

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
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
Or5h18 G A 16: 58,848,216 (GRCm39) T18I probably benign 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 Or5h23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01553:Or5h23 APN 16 58,906,685 (GRCm39) missense probably benign 0.35
R0233:Or5h23 UTSW 16 58,906,038 (GRCm39) missense probably benign 0.01
R0233:Or5h23 UTSW 16 58,906,038 (GRCm39) missense probably benign 0.01
R1367:Or5h23 UTSW 16 58,906,706 (GRCm39) missense probably benign 0.00
R1631:Or5h23 UTSW 16 58,906,408 (GRCm39) missense probably benign
R1660:Or5h23 UTSW 16 58,906,706 (GRCm39) missense probably benign 0.00
R2166:Or5h23 UTSW 16 58,905,949 (GRCm39) missense probably benign 0.07
R2167:Or5h23 UTSW 16 58,905,949 (GRCm39) missense probably benign 0.07
R2168:Or5h23 UTSW 16 58,905,949 (GRCm39) missense probably benign 0.07
R2191:Or5h23 UTSW 16 58,906,038 (GRCm39) missense probably benign 0.01
R3836:Or5h23 UTSW 16 58,906,586 (GRCm39) missense possibly damaging 0.61
R4999:Or5h23 UTSW 16 58,906,765 (GRCm39) missense probably damaging 1.00
R5386:Or5h23 UTSW 16 58,906,253 (GRCm39) missense probably benign
R5589:Or5h23 UTSW 16 58,906,334 (GRCm39) missense probably benign 0.03
R5590:Or5h23 UTSW 16 58,906,360 (GRCm39) missense probably benign 0.06
R5609:Or5h23 UTSW 16 58,906,439 (GRCm39) missense possibly damaging 0.96
R5965:Or5h23 UTSW 16 58,906,666 (GRCm39) missense probably damaging 1.00
R5989:Or5h23 UTSW 16 58,906,697 (GRCm39) missense probably benign 0.00
R6049:Or5h23 UTSW 16 58,906,509 (GRCm39) nonsense probably null
R6058:Or5h23 UTSW 16 58,906,792 (GRCm39) missense probably benign
R6058:Or5h23 UTSW 16 58,906,273 (GRCm39) missense probably damaging 0.99
R6250:Or5h23 UTSW 16 58,906,195 (GRCm39) missense probably damaging 1.00
R6319:Or5h23 UTSW 16 58,906,384 (GRCm39) missense probably benign 0.08
R6473:Or5h23 UTSW 16 58,906,406 (GRCm39) missense probably benign 0.09
R6524:Or5h23 UTSW 16 58,906,640 (GRCm39) missense possibly damaging 0.76
R6748:Or5h23 UTSW 16 58,906,253 (GRCm39) missense probably benign
R6874:Or5h23 UTSW 16 58,906,312 (GRCm39) missense probably benign 0.02
R9303:Or5h23 UTSW 16 58,906,802 (GRCm39) missense probably benign 0.11
Posted On 2013-04-17