Incidental Mutation 'IGL03088:Or8b50'
ID 418186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b50
Ensembl Gene ENSMUSG00000047050
Gene Name olfactory receptor family 8 subfamily B member 50
Synonyms Olfr914, MOR165-7, GA_x6K02T2PVTD-32308823-32309773
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL03088
Quality Score
Status
Chromosome 9
Chromosomal Location 38517763-38518713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38518597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 279 (S279C)
Ref Sequence ENSEMBL: ENSMUSP00000150241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057755] [ENSMUST00000217057]
AlphaFold E9PW59
Predicted Effect probably damaging
Transcript: ENSMUST00000057755
AA Change: S279C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053405
Gene: ENSMUSG00000047050
AA Change: S279C

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 1.1e-48 PFAM
Pfam:7tm_1 41 290 5.2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217057
AA Change: S279C

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,184,210 (GRCm39) L299R unknown Het
Abca9 T G 11: 110,035,087 (GRCm39) R693S probably benign Het
Adamts20 A T 15: 94,227,795 (GRCm39) probably null Het
Afg1l T A 10: 42,302,493 (GRCm39) D169V probably damaging Het
Agbl1 T A 7: 76,369,890 (GRCm39) M663K probably benign Het
Angpt2 T A 8: 18,791,039 (GRCm39) I86F probably benign Het
Ankrd2 G A 19: 42,030,424 (GRCm39) E160K probably null Het
As3mt G T 19: 46,696,233 (GRCm39) V14F probably damaging Het
Atp6v0a2 T C 5: 124,791,171 (GRCm39) probably benign Het
Atp6v0d1 T A 8: 106,257,591 (GRCm39) I113F probably damaging Het
Bank1 A G 3: 135,799,123 (GRCm39) I406T probably damaging Het
Bicdl1 A G 5: 115,801,881 (GRCm39) V59A possibly damaging Het
Brsk1 A G 7: 4,713,453 (GRCm39) probably benign Het
Cdh17 T A 4: 11,810,473 (GRCm39) N721K probably damaging Het
Cercam A G 2: 29,771,699 (GRCm39) probably benign Het
Clpb T A 7: 101,434,656 (GRCm39) L484* probably null Het
Creb3l1 T A 2: 91,825,739 (GRCm39) M127L probably benign Het
Cstdc1 A T 2: 148,625,327 (GRCm39) H87L possibly damaging Het
Ctla2b A C 13: 61,043,874 (GRCm39) D122E probably damaging Het
Cyb5rl C A 4: 106,938,225 (GRCm39) Y12* probably null Het
Dennd5a T C 7: 109,507,588 (GRCm39) Y800C probably damaging Het
Dmrt3 T G 19: 25,600,411 (GRCm39) S419A probably benign Het
Elapor1 A G 3: 108,443,674 (GRCm39) W31R probably damaging Het
Fbxo38 A G 18: 62,655,543 (GRCm39) V381A possibly damaging Het
Flg2 A T 3: 93,110,498 (GRCm39) H842L unknown Het
Fn1 A T 1: 71,653,197 (GRCm39) probably null Het
Fos A C 12: 85,522,630 (GRCm39) T181P possibly damaging Het
Fzd10 A G 5: 128,679,669 (GRCm39) Y463C possibly damaging Het
Gprc5b T C 7: 118,582,856 (GRCm39) M338V probably benign Het
Gsta4 T C 9: 78,113,345 (GRCm39) probably benign Het
Gstm2 T A 3: 107,893,362 (GRCm39) T34S probably benign Het
Haspin C T 11: 73,027,451 (GRCm39) R546Q probably damaging Het
Itgad G A 7: 127,802,204 (GRCm39) R958H probably benign Het
Kansl1l A T 1: 66,774,884 (GRCm39) H647Q probably damaging Het
Kif5c A C 2: 49,634,455 (GRCm39) R762S probably benign Het
Klf4 C A 4: 55,530,758 (GRCm39) A68S possibly damaging Het
Klf4 A G 4: 55,530,811 (GRCm39) L50P probably damaging Het
Kmt2c T C 5: 25,504,802 (GRCm39) E3502G probably damaging Het
Krt8 A G 15: 101,909,022 (GRCm39) I202T possibly damaging Het
Lmcd1 A T 6: 112,287,649 (GRCm39) T112S probably damaging Het
Lpxn T C 19: 12,810,575 (GRCm39) C340R probably damaging Het
Man2a2 C T 7: 80,009,082 (GRCm39) V844M possibly damaging Het
Map10 G A 8: 126,397,809 (GRCm39) E401K probably benign Het
Mark4 A T 7: 19,185,509 (GRCm39) L75Q probably damaging Het
Mlf2 T G 6: 124,910,945 (GRCm39) M81R probably damaging Het
Mup3 A G 4: 62,005,079 (GRCm39) I67T probably damaging Het
Mycbpap T C 11: 94,404,769 (GRCm39) probably null Het
Myt1l T C 12: 29,970,476 (GRCm39) V1185A probably benign Het
Ncoa7 C T 10: 30,574,121 (GRCm39) probably null Het
Nos1 C A 5: 118,005,323 (GRCm39) N14K probably damaging Het
Nova2 G T 7: 18,684,494 (GRCm39) V116F unknown Het
Obox3 G A 7: 15,360,927 (GRCm39) probably benign Het
Or10h1 A T 17: 33,418,534 (GRCm39) T171S probably benign Het
Or2t46 T A 11: 58,472,653 (GRCm39) probably benign Het
Or5v1 A G 17: 37,809,539 (GRCm39) probably benign Het
P2rx5 T A 11: 73,056,446 (GRCm39) probably benign Het
Parvb T A 15: 84,193,044 (GRCm39) probably benign Het
Popdc2 A T 16: 38,194,184 (GRCm39) T202S probably damaging Het
Ppm1j T A 3: 104,692,725 (GRCm39) Y411* probably null Het
Rapgefl1 C A 11: 98,740,058 (GRCm39) L484M probably damaging Het
Septin14 A G 5: 129,774,797 (GRCm39) probably benign Het
Slf1 A G 13: 77,232,554 (GRCm39) C517R probably damaging Het
Smyd3 A G 1: 178,921,898 (GRCm39) probably null Het
Snx9 A G 17: 5,974,885 (GRCm39) T458A probably benign Het
Srgap1 T C 10: 121,661,598 (GRCm39) D514G possibly damaging Het
Tbc1d14 A G 5: 36,682,308 (GRCm39) S311P probably damaging Het
Timd6 C A 11: 46,475,244 (GRCm39) F146L probably benign Het
Tmem150c T G 5: 100,234,076 (GRCm39) K91N probably damaging Het
Traf3 T A 12: 111,228,277 (GRCm39) M471K probably damaging Het
Tubd1 G T 11: 86,443,825 (GRCm39) G178C probably damaging Het
Vav2 T C 2: 27,157,262 (GRCm39) K847E possibly damaging Het
Vmn2r100 A T 17: 19,742,301 (GRCm39) H225L probably benign Het
Wrn A T 8: 33,758,851 (GRCm39) probably benign Het
Xpo7 T G 14: 70,918,702 (GRCm39) S710R probably benign Het
Zfp780b C T 7: 27,662,417 (GRCm39) V713I possibly damaging Het
Zkscan17 A T 11: 59,378,592 (GRCm39) I197N probably damaging Het
Other mutations in Or8b50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01613:Or8b50 APN 9 38,517,850 (GRCm39) missense probably null 0.00
IGL01758:Or8b50 APN 9 38,518,589 (GRCm39) missense probably damaging 0.99
IGL02003:Or8b50 APN 9 38,518,136 (GRCm39) missense probably damaging 1.00
IGL02203:Or8b50 APN 9 38,518,719 (GRCm39) utr 3 prime probably benign
IGL02233:Or8b50 APN 9 38,518,538 (GRCm39) missense probably damaging 1.00
IGL02408:Or8b50 APN 9 38,518,417 (GRCm39) missense possibly damaging 0.62
IGL02882:Or8b50 APN 9 38,518,234 (GRCm39) missense probably benign 0.04
IGL03081:Or8b50 APN 9 38,518,166 (GRCm39) missense probably benign 0.01
IGL03177:Or8b50 APN 9 38,517,867 (GRCm39) nonsense probably null
IGL03219:Or8b50 APN 9 38,518,247 (GRCm39) missense probably benign 0.28
P0023:Or8b50 UTSW 9 38,517,941 (GRCm39) missense probably damaging 1.00
R0630:Or8b50 UTSW 9 38,518,192 (GRCm39) missense probably benign 0.01
R0948:Or8b50 UTSW 9 38,517,787 (GRCm39) missense possibly damaging 0.65
R1451:Or8b50 UTSW 9 38,518,234 (GRCm39) missense probably benign 0.04
R1681:Or8b50 UTSW 9 38,518,244 (GRCm39) missense probably damaging 0.99
R2402:Or8b50 UTSW 9 38,518,397 (GRCm39) missense probably benign 0.02
R5854:Or8b50 UTSW 9 38,517,959 (GRCm39) missense probably damaging 1.00
R6857:Or8b50 UTSW 9 38,518,307 (GRCm39) missense probably benign 0.07
R7452:Or8b50 UTSW 9 38,518,384 (GRCm39) missense probably benign 0.34
R7838:Or8b50 UTSW 9 38,517,708 (GRCm39) start gained probably benign
R8039:Or8b50 UTSW 9 38,518,685 (GRCm39) missense probably benign
R8489:Or8b50 UTSW 9 38,518,232 (GRCm39) missense probably benign 0.07
R8768:Or8b50 UTSW 9 38,518,441 (GRCm39) missense probably benign 0.01
R9373:Or8b50 UTSW 9 38,518,142 (GRCm39) missense possibly damaging 0.91
R9380:Or8b50 UTSW 9 38,518,415 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02