Incidental Mutation 'IGL02511:Or5v1b'
ID 296530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5v1b
Ensembl Gene ENSMUSG00000090675
Gene Name olfactory receptor family 5 subfamily V member 1B
Synonyms MOR249-1P, GA_x6K02T2PSCP-1989071-1990024, Olfr111
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.499) question?
Stock # IGL02511
Quality Score
Status
Chromosome 17
Chromosomal Location 37818921-37843340 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 37840870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000150806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097325] [ENSMUST00000214259] [ENSMUST00000215424]
AlphaFold Q7TRK1
Predicted Effect probably null
Transcript: ENSMUST00000097325
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000094933
Gene: ENSMUSG00000090675
AA Change: M1V

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 5.4e-54 PFAM
Pfam:7TM_GPCR_Srsx 35 302 1.5e-5 PFAM
Pfam:7tm_1 41 290 1.4e-28 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000214259
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably null
Transcript: ENSMUST00000215424
AA Change: M1V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,692,111 (GRCm39) probably benign Het
Adam3 T A 8: 25,185,192 (GRCm39) D502V probably damaging Het
Adss2 T C 1: 177,598,700 (GRCm39) probably benign Het
Ankrd36 T A 11: 5,610,845 (GRCm39) probably null Het
Atf6b T C 17: 34,873,615 (GRCm39) S692P probably benign Het
Cap2 T C 13: 46,684,498 (GRCm39) M1T probably null Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntn1 A T 15: 92,114,266 (GRCm39) probably benign Het
Copg2 A T 6: 30,835,757 (GRCm39) F218Y probably benign Het
Dll4 G A 2: 119,156,947 (GRCm39) G73E probably damaging Het
Dzip3 T C 16: 48,757,343 (GRCm39) M897V possibly damaging Het
Ehbp1 T C 11: 22,039,653 (GRCm39) R816G probably damaging Het
Enoph1 T C 5: 100,208,894 (GRCm39) L83P probably benign Het
Enpep A G 3: 129,115,059 (GRCm39) S238P probably damaging Het
Fermt1 A C 2: 132,775,086 (GRCm39) probably benign Het
Gm6619 T A 6: 131,467,330 (GRCm39) I65K possibly damaging Het
Krtap31-2 T A 11: 99,827,518 (GRCm39) C117S possibly damaging Het
Ksr1 T C 11: 78,936,046 (GRCm39) D106G possibly damaging Het
Lgr4 A T 2: 109,841,617 (GRCm39) Y534F probably benign Het
Mamdc2 T C 19: 23,356,095 (GRCm39) T118A probably benign Het
Myo10 T A 15: 25,723,975 (GRCm39) I170N probably damaging Het
Myom2 T C 8: 15,115,743 (GRCm39) S53P probably benign Het
Npl T A 1: 153,391,227 (GRCm39) D176V probably damaging Het
Nrm T C 17: 36,172,316 (GRCm39) S14P probably damaging Het
Or5al7 A G 2: 85,992,363 (GRCm39) I310T probably benign Het
Or5p70 T A 7: 107,995,265 (GRCm39) F313I probably benign Het
Papola T A 12: 105,775,604 (GRCm39) C204S probably damaging Het
Pard3 A T 8: 127,888,070 (GRCm39) probably benign Het
Pdzd4 T A X: 72,838,206 (GRCm39) M701L probably damaging Het
Pkhd1 A T 1: 20,143,731 (GRCm39) V3865E possibly damaging Het
Plxna3 C A X: 73,378,991 (GRCm39) Q712K probably damaging Het
Pon1 A G 6: 5,193,724 (GRCm39) L9P probably damaging Het
Pygm A T 19: 6,435,718 (GRCm39) I83F probably benign Het
Scyl2 A G 10: 89,476,681 (GRCm39) S815P probably benign Het
Serpina1a C T 12: 103,822,226 (GRCm39) W212* probably null Het
Slc38a9 C A 13: 112,834,541 (GRCm39) D239E possibly damaging Het
Smad6 A G 9: 63,860,859 (GRCm39) F479L probably damaging Het
Smarcc2 T C 10: 128,297,251 (GRCm39) S48P probably damaging Het
Ttn T A 2: 76,768,034 (GRCm39) M3022L unknown Het
Tulp1 C A 17: 28,575,142 (GRCm39) R441L probably benign Het
Ugt1a10 T C 1: 87,983,585 (GRCm39) F128L probably damaging Het
Ulk4 A G 9: 121,017,420 (GRCm39) V686A probably damaging Het
Ush2a T C 1: 188,475,884 (GRCm39) probably null Het
Ushbp1 T C 8: 71,843,581 (GRCm39) M286V probably null Het
Usp51 T G X: 151,791,726 (GRCm39) I440R probably damaging Het
Wee1 G T 7: 109,738,483 (GRCm39) R532L possibly damaging Het
Zfhx4 A G 3: 5,464,243 (GRCm39) E1467G probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp551 A G 7: 12,150,602 (GRCm39) V269A possibly damaging Het
Other mutations in Or5v1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01870:Or5v1b APN 17 37,841,555 (GRCm39) missense probably benign 0.00
IGL02472:Or5v1b APN 17 37,841,640 (GRCm39) missense probably damaging 1.00
BB009:Or5v1b UTSW 17 37,841,075 (GRCm39) missense probably benign 0.31
BB019:Or5v1b UTSW 17 37,841,075 (GRCm39) missense probably benign 0.31
R0335:Or5v1b UTSW 17 37,841,533 (GRCm39) missense probably benign 0.01
R2006:Or5v1b UTSW 17 37,841,597 (GRCm39) missense probably damaging 1.00
R3757:Or5v1b UTSW 17 37,841,246 (GRCm39) missense probably damaging 1.00
R4167:Or5v1b UTSW 17 37,840,897 (GRCm39) missense possibly damaging 0.65
R4904:Or5v1b UTSW 17 37,841,522 (GRCm39) missense probably damaging 1.00
R4952:Or5v1b UTSW 17 37,841,641 (GRCm39) missense possibly damaging 0.48
R7366:Or5v1b UTSW 17 37,841,708 (GRCm39) missense probably damaging 0.99
R7389:Or5v1b UTSW 17 37,841,548 (GRCm39) missense possibly damaging 0.72
R7510:Or5v1b UTSW 17 37,841,480 (GRCm39) missense probably damaging 0.98
R7932:Or5v1b UTSW 17 37,841,075 (GRCm39) missense probably benign 0.31
R8080:Or5v1b UTSW 17 37,841,555 (GRCm39) missense probably benign 0.00
R8326:Or5v1b UTSW 17 37,841,470 (GRCm39) missense probably benign 0.19
R8828:Or5v1b UTSW 17 37,841,333 (GRCm39) missense probably damaging 1.00
R9275:Or5v1b UTSW 17 37,841,819 (GRCm39) missense probably benign 0.01
R9779:Or5v1b UTSW 17 37,841,048 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16