Incidental Mutation 'R1769:Or5b96'
ID 194742
Institutional Source Beutler Lab
Gene Symbol Or5b96
Ensembl Gene ENSMUSG00000057817
Gene Name olfactory receptor family 5 subfamily B member 96
Synonyms Olfr1446, MOR202-2, GA_x6K02T2RE5P-3220047-3219130
MMRRC Submission 039800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1769 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 12867013-12867939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12867047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 298 (V298A)
Ref Sequence ENSEMBL: ENSMUSP00000149198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049624] [ENSMUST00000081236] [ENSMUST00000207741] [ENSMUST00000216805]
AlphaFold Q8VFX4
Predicted Effect probably benign
Transcript: ENSMUST00000049624
SMART Domains Protein: ENSMUSP00000058933
Gene: ENSMUSG00000045126

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.7e-54 PFAM
Pfam:7tm_1 39 288 4.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000081236
AA Change: V298A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079994
Gene: ENSMUSG00000057817
AA Change: V298A

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2e-51 PFAM
Pfam:7TM_GPCR_Srsx 36 306 5.1e-6 PFAM
Pfam:7tm_1 42 291 9.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207319
Predicted Effect probably benign
Transcript: ENSMUST00000207741
Predicted Effect probably damaging
Transcript: ENSMUST00000216805
AA Change: V298A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6063 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 100% (91/91)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,644,519 (GRCm39) I135V probably benign Het
Abca1 T A 4: 53,074,325 (GRCm39) K1119N probably damaging Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcc9 T C 6: 142,573,194 (GRCm39) probably benign Het
Akap3 A G 6: 126,842,809 (GRCm39) E476G possibly damaging Het
Aldh3b1 A G 19: 3,968,740 (GRCm39) F271S probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ascc3 T C 10: 50,576,586 (GRCm39) V847A probably damaging Het
Best3 A G 10: 116,859,883 (GRCm39) N381S probably benign Het
Blm A T 7: 80,163,118 (GRCm39) S78T probably benign Het
Bmpr2 T A 1: 59,907,520 (GRCm39) L871Q probably damaging Het
Car13 T A 3: 14,715,795 (GRCm39) H104Q probably benign Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Ccnb1ip1 T C 14: 51,029,568 (GRCm39) M165V probably benign Het
Cd4 A T 6: 124,843,618 (GRCm39) M431K possibly damaging Het
Cdh20 C T 1: 109,980,606 (GRCm39) T178I probably damaging Het
Ceacam3 C T 7: 16,892,301 (GRCm39) T348I probably damaging Het
Cfap54 C T 10: 92,740,125 (GRCm39) probably null Het
Clcn6 A T 4: 148,098,758 (GRCm39) probably null Het
Csf3 A G 11: 98,593,246 (GRCm39) Y121C probably damaging Het
Csmd3 C T 15: 47,567,505 (GRCm39) probably benign Het
Cyp2c69 A G 19: 39,864,815 (GRCm39) I221T probably benign Het
Dgcr2 T C 16: 17,675,115 (GRCm39) probably benign Het
Dhcr7 T C 7: 143,401,250 (GRCm39) F474S probably damaging Het
Dnah1 T C 14: 31,032,839 (GRCm39) I399V probably null Het
Efcab14 T A 4: 115,610,188 (GRCm39) L183Q probably damaging Het
Evx2 A G 2: 74,489,501 (GRCm39) V88A probably benign Het
Exph5 A G 9: 53,285,109 (GRCm39) N730S probably benign Het
Farsb T A 1: 78,443,620 (GRCm39) K196I probably benign Het
Fbln7 C T 2: 128,735,682 (GRCm39) probably benign Het
Fhdc1 A G 3: 84,356,085 (GRCm39) F453S probably damaging Het
Gast T A 11: 100,227,684 (GRCm39) W89R probably damaging Het
Gata2 A G 6: 88,182,237 (GRCm39) S402G probably benign Het
Gin1 T A 1: 97,720,162 (GRCm39) S386T probably benign Het
Golgb1 A G 16: 36,736,363 (GRCm39) E1870G probably damaging Het
Hivep3 T A 4: 119,954,768 (GRCm39) V1028E possibly damaging Het
Ifi203 G A 1: 173,756,326 (GRCm39) R486* probably null Het
Ifi209 G A 1: 173,468,728 (GRCm39) S186N probably benign Het
Ifih1 C T 2: 62,436,738 (GRCm39) A562T probably damaging Het
Itch T C 2: 155,014,481 (GRCm39) L106S probably damaging Het
Itga4 T A 2: 79,146,050 (GRCm39) probably null Het
Kdm4c A G 4: 74,199,234 (GRCm39) S141G possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klra3 T C 6: 130,307,226 (GRCm39) probably null Het
Lama2 A T 10: 27,084,402 (GRCm39) S923T probably damaging Het
Lama2 G C 10: 27,084,403 (GRCm39) F922L probably benign Het
Llgl1 G A 11: 60,597,873 (GRCm39) V331M probably damaging Het
Lrrc30 T C 17: 67,938,676 (GRCm39) *301W probably null Het
Map1lc3b C T 8: 122,320,226 (GRCm39) probably benign Het
Mbd2 A G 18: 70,749,690 (GRCm39) I302V probably benign Het
Med27 A G 2: 29,390,307 (GRCm39) Y78C probably damaging Het
Mei1 C T 15: 81,996,771 (GRCm39) probably null Het
Mideas G A 12: 84,205,124 (GRCm39) probably benign Het
Miga1 T C 3: 151,993,191 (GRCm39) E346G probably damaging Het
Myef2 A G 2: 124,957,363 (GRCm39) S131P probably damaging Het
Myocd T C 11: 65,069,527 (GRCm39) H899R probably benign Het
Ncam1 A G 9: 49,456,556 (GRCm39) probably benign Het
Ngf T A 3: 102,427,513 (GRCm39) N87K possibly damaging Het
Nol10 T A 12: 17,466,709 (GRCm39) probably benign Het
Nrip2 A G 6: 128,385,231 (GRCm39) I221V probably benign Het
Nup205 G A 6: 35,182,366 (GRCm39) G777D probably damaging Het
Or5ac17 A G 16: 59,036,344 (GRCm39) F211L probably benign Het
Or6c1 T A 10: 129,518,081 (GRCm39) T176S probably benign Het
Or7g35 A T 9: 19,496,682 (GRCm39) Q283L probably damaging Het
Or8d6 G T 9: 39,854,251 (GRCm39) D232Y probably benign Het
Oxt A T 2: 130,418,220 (GRCm39) R31W probably damaging Het
Pde4dip A G 3: 97,603,246 (GRCm39) S2248P probably benign Het
Pias1 A G 9: 62,859,460 (GRCm39) V16A probably damaging Het
Pkp2 T C 16: 16,080,561 (GRCm39) S616P probably damaging Het
Plch2 T C 4: 155,084,540 (GRCm39) Y379C probably damaging Het
Pnpt1 A G 11: 29,104,159 (GRCm39) N540D probably benign Het
Ptpn23 G A 9: 110,220,746 (GRCm39) H255Y possibly damaging Het
Rad21 T C 15: 51,835,703 (GRCm39) N237D probably benign Het
Ryr3 A C 2: 112,582,113 (GRCm39) probably null Het
Sgk1 C A 10: 21,873,007 (GRCm39) probably benign Het
Slc1a5 G T 7: 16,531,464 (GRCm39) A490S probably damaging Het
Slc5a8 T C 10: 88,755,326 (GRCm39) Y478H probably benign Het
Slc5a8 T A 10: 88,755,328 (GRCm39) Y478* probably null Het
Slc9a3 A T 13: 74,311,190 (GRCm39) M562L probably benign Het
Spmip4 A G 6: 50,568,801 (GRCm39) probably benign Het
Thsd7a G A 6: 12,555,714 (GRCm39) R57* probably null Het
Tiam1 T C 16: 89,657,167 (GRCm39) R690G probably damaging Het
Tmem150b A G 7: 4,727,365 (GRCm39) S47P probably damaging Het
Trim39 C T 17: 36,574,832 (GRCm39) R190Q probably damaging Het
Ttc32 A T 12: 9,085,073 (GRCm39) I98L possibly damaging Het
Vps13c A G 9: 67,873,003 (GRCm39) T3304A probably benign Het
Wdr35 A C 12: 9,062,728 (GRCm39) D638A probably damaging Het
Wwc1 G T 11: 35,752,671 (GRCm39) P797T probably benign Het
Zan T A 5: 137,462,780 (GRCm39) T800S unknown Het
Zbbx A G 3: 74,990,926 (GRCm39) probably benign Het
Zup1 T C 10: 33,811,172 (GRCm39) M291V probably damaging Het
Other mutations in Or5b96
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Or5b96 APN 19 12,867,282 (GRCm39) missense probably benign 0.00
IGL01399:Or5b96 APN 19 12,867,803 (GRCm39) missense probably benign 0.28
IGL01697:Or5b96 APN 19 12,867,831 (GRCm39) missense probably benign 0.24
IGL01739:Or5b96 APN 19 12,867,513 (GRCm39) missense probably benign 0.02
IGL01894:Or5b96 APN 19 12,867,007 (GRCm39) utr 3 prime probably benign
R0164:Or5b96 UTSW 19 12,867,809 (GRCm39) missense probably damaging 1.00
R0164:Or5b96 UTSW 19 12,867,809 (GRCm39) missense probably damaging 1.00
R1163:Or5b96 UTSW 19 12,867,513 (GRCm39) missense probably benign 0.02
R4406:Or5b96 UTSW 19 12,867,598 (GRCm39) nonsense probably null
R5038:Or5b96 UTSW 19 12,867,770 (GRCm39) missense probably damaging 1.00
R5207:Or5b96 UTSW 19 12,867,801 (GRCm39) missense probably benign 0.28
R5627:Or5b96 UTSW 19 12,867,663 (GRCm39) missense probably damaging 1.00
R5995:Or5b96 UTSW 19 12,867,961 (GRCm39) splice site probably null
R7953:Or5b96 UTSW 19 12,867,095 (GRCm39) missense probably damaging 1.00
R8043:Or5b96 UTSW 19 12,867,095 (GRCm39) missense probably damaging 1.00
R8254:Or5b96 UTSW 19 12,867,849 (GRCm39) missense probably benign 0.00
R8812:Or5b96 UTSW 19 12,867,560 (GRCm39) missense probably damaging 1.00
R9242:Or5b96 UTSW 19 12,867,989 (GRCm39) intron probably benign
X0062:Or5b96 UTSW 19 12,867,927 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- TCTAAGGAGTGGGACCACATTCACC -3'
(R):5'- ACAAGGCTATATCCACCTGTGCCTC -3'

Sequencing Primer
(F):5'- TGTCCATGTTAAACACACCATTC -3'
(R):5'- TGTGCCTCTCACTTCACTG -3'
Posted On 2014-05-23