Incidental Mutation 'IGL02472:Or5v1b'
ID 294765
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 essential (E-score: 0.523) question?
Stock # IGL02472
Quality Score
Status
Chromosome 17
Chromosomal Location 37818921-37843340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37841640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 257 (F257L)
Ref Sequence ENSEMBL: ENSMUSP00000150806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097325] [ENSMUST00000214259] [ENSMUST00000215424]
AlphaFold Q7TRK1
Predicted Effect probably damaging
Transcript: ENSMUST00000097325
AA Change: F257L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094933
Gene: ENSMUSG00000090675
AA Change: F257L

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 damaging
Transcript: ENSMUST00000214259
AA Change: F257L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215424
AA Change: F257L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Or5v1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01870:Or5v1b APN 17 37,841,555 (GRCm39) missense probably benign 0.00
IGL02511:Or5v1b APN 17 37,840,870 (GRCm39) start codon destroyed probably null 0.99
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