Incidental Mutation 'BB019:Or5v1b'
ID 643097
Institutional Source Beutler Lab
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 # BB019
Quality Score 178.009
Status Not validated
Chromosome 17
Chromosomal Location 37818921-37843340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37841075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 69 (I69T)
Ref Sequence ENSEMBL: ENSMUSP00000150585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097325] [ENSMUST00000214259] [ENSMUST00000215424]
AlphaFold Q7TRK1
Predicted Effect probably benign
Transcript: ENSMUST00000097325
AA Change: I69T

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000094933
Gene: ENSMUSG00000090675
AA Change: I69T

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 benign
Transcript: ENSMUST00000214259
AA Change: I69T

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215424
AA Change: I69T

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 A G 2: 155,415,100 (GRCm39) R666G unknown Het
Adam21 T A 12: 81,606,938 (GRCm39) N275Y probably damaging Het
Arhgap24 A T 5: 102,993,835 (GRCm39) probably benign Het
Arhgef1 C T 7: 24,619,135 (GRCm39) L459F probably damaging Het
Bbx A T 16: 50,030,806 (GRCm39) probably null Het
Blk C T 14: 63,611,008 (GRCm39) G445S possibly damaging Het
Brca1 T C 11: 101,430,843 (GRCm39) E33G possibly damaging Het
Cacna1s T G 1: 136,012,097 (GRCm39) L513R probably damaging Het
Cnn3 T A 3: 121,245,078 (GRCm39) M98K probably benign Het
Cttnbp2 T A 6: 18,427,532 (GRCm39) L716F probably damaging Het
Dlgap1 A T 17: 70,823,233 (GRCm39) R73W probably damaging Het
Dnajc4 A G 19: 6,965,638 (GRCm39) L182P probably damaging Het
Dock2 T C 11: 34,217,998 (GRCm39) M1191V probably benign Het
Fam13a C T 6: 58,960,873 (GRCm39) probably null Het
Fbn2 C T 18: 58,153,555 (GRCm39) G2569E possibly damaging Het
Fes T C 7: 80,029,620 (GRCm39) I623V probably damaging Het
Fyco1 A C 9: 123,658,055 (GRCm39) L707R possibly damaging Het
Gadd45b T A 10: 80,766,169 (GRCm39) V7E possibly damaging Het
Gm19410 T A 8: 36,262,753 (GRCm39) C897S probably damaging Het
Hk1 A G 10: 62,151,299 (GRCm39) L31P probably damaging Het
Hoxa4 T G 6: 52,167,397 (GRCm39) K261N probably damaging Het
Hrh4 T A 18: 13,148,869 (GRCm39) L77* probably null Het
Igf1r A T 7: 67,861,802 (GRCm39) I1121F possibly damaging Het
Igkv16-104 A T 6: 68,402,778 (GRCm39) I24L probably benign Het
Itk A T 11: 46,231,519 (GRCm39) W346R probably benign Het
Kdm2a A G 19: 4,369,184 (GRCm39) S1144P probably damaging Het
Krt86 A T 15: 101,374,473 (GRCm39) S289C probably damaging Het
Lonrf1 T C 8: 36,690,070 (GRCm39) I663V probably benign Het
Lrp2 T G 2: 69,256,371 (GRCm39) I4590L probably benign Het
Lrrc8d C T 5: 105,960,891 (GRCm39) R434C probably damaging Het
Maneal T C 4: 124,755,638 (GRCm39) Y108C probably damaging Het
Myh8 G A 11: 67,185,430 (GRCm39) V894I probably benign Het
Ncam2 T G 16: 81,412,708 (GRCm39) L732R probably damaging Het
Nsun4 A T 4: 115,901,997 (GRCm39) D156E probably damaging Het
Or10z1 T C 1: 174,078,260 (GRCm39) I78V probably benign Het
Or1e23 A C 11: 73,407,983 (GRCm39) L14R probably damaging Het
Or2n1d A T 17: 38,646,146 (GRCm39) I33L probably benign Het
Or5b106 A T 19: 13,123,345 (GRCm39) M226K probably benign Het
Or6c66 C A 10: 129,461,094 (GRCm39) V279F probably damaging Het
P2rx7 G A 5: 122,782,245 (GRCm39) V37I probably benign Het
Pcdh15 A G 10: 74,481,359 (GRCm39) R235G probably benign Het
Pcdhga1 T C 18: 37,796,513 (GRCm39) S506P probably damaging Het
Pira2 A T 7: 3,845,435 (GRCm39) probably null Het
Plch1 A G 3: 63,609,402 (GRCm39) V935A probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Prpf8 A G 11: 75,383,423 (GRCm39) D607G possibly damaging Het
Ptdss1 T C 13: 67,114,496 (GRCm39) W215R probably damaging Het
Ptpn9 C A 9: 56,943,900 (GRCm39) P258Q possibly damaging Het
Rfpl4b A G 10: 38,697,346 (GRCm39) V85A possibly damaging Het
Sacs C A 14: 61,442,327 (GRCm39) Q1458K probably damaging Het
Scfd2 A T 5: 74,692,211 (GRCm39) S24T probably benign Het
Siae A G 9: 37,544,980 (GRCm39) D325G probably benign Het
Slc22a23 C A 13: 34,366,960 (GRCm39) A683S probably damaging Het
Slc44a3 A T 3: 121,306,009 (GRCm39) I244N possibly damaging Het
Srrm2 T A 17: 24,037,501 (GRCm39) S1382T probably benign Het
Tfap2c A G 2: 172,393,706 (GRCm39) Y207C probably damaging Het
Timd5 C A 11: 46,426,366 (GRCm39) P158T probably benign Het
Tnc T C 4: 63,926,857 (GRCm39) I890V probably benign Het
Trim30a A T 7: 104,078,545 (GRCm39) I177N probably benign Het
Tshz2 T A 2: 169,728,251 (GRCm39) M949K possibly damaging Het
Ttn T G 2: 76,555,530 (GRCm39) T30492P probably damaging Het
Ubb C T 11: 62,443,611 (GRCm39) Q214* probably null Het
Ulk2 A G 11: 61,698,916 (GRCm39) S423P probably benign Het
Vmn1r237 C A 17: 21,534,725 (GRCm39) D149E probably benign Het
Zbtb24 A G 10: 41,327,504 (GRCm39) D130G probably benign Het
Zfp689 C A 7: 127,043,523 (GRCm39) G369V probably damaging Het
Zg16 A G 7: 126,649,577 (GRCm39) F128S probably damaging Het
Zmym1 T G 4: 126,944,578 (GRCm39) N203T 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
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
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
Predicted Primers PCR Primer
(F):5'- ACCAGCTGACATCATGGAAG -3'
(R):5'- TACCTTAACGGCTTACAGATAGC -3'

Sequencing Primer
(F):5'- CCATCTGAATTCATCATCTTGGGG -3'
(R):5'- CGGCTTACAGATAGCAATATATCG -3'
Posted On 2020-08-01