Incidental Mutation 'IGL03031:Or10d4b'
ID 408425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10d4b
Ensembl Gene ENSMUSG00000059867
Gene Name olfactory receptor family 10 subfamily D member 4B
Synonyms GA_x6K02T2PVTD-33320043-33320987, Olfr960, MOR224-12
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL03031
Quality Score
Status
Chromosome 9
Chromosomal Location 39534421-39535461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39534694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 92 (I92V)
Ref Sequence ENSEMBL: ENSMUSP00000076315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077060] [ENSMUST00000216584]
AlphaFold Q8VET5
Predicted Effect probably damaging
Transcript: ENSMUST00000077060
AA Change: I92V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076315
Gene: ENSMUSG00000059867
AA Change: I92V

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 1.3e-48 PFAM
Pfam:7tm_1 41 288 1e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215616
Predicted Effect probably damaging
Transcript: ENSMUST00000216584
AA Change: I90V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,353,183 (GRCm39) D753G probably benign Het
Adat2 T C 10: 13,432,590 (GRCm39) probably benign Het
Ahsa2 A G 11: 23,440,426 (GRCm39) L275S probably benign Het
Arhgef38 C T 3: 132,837,828 (GRCm39) D118N possibly damaging Het
Bicra A T 7: 15,709,726 (GRCm39) H1097Q probably benign Het
C4b T C 17: 34,950,104 (GRCm39) T1389A possibly damaging Het
Cd180 A G 13: 102,841,535 (GRCm39) S194G probably benign Het
Chgb C A 2: 132,635,434 (GRCm39) Q459K probably benign Het
Clvs1 G T 4: 9,449,385 (GRCm39) probably benign Het
Cpox G A 16: 58,492,923 (GRCm39) G186R probably damaging Het
Cul5 A G 9: 53,553,975 (GRCm39) probably benign Het
Epsti1 G A 14: 78,212,021 (GRCm39) R249K probably benign Het
Gabrg1 A T 5: 70,952,025 (GRCm39) Y90* probably null Het
Gabrp T C 11: 33,504,980 (GRCm39) R274G probably damaging Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Hectd4 C T 5: 121,486,857 (GRCm39) T3284M possibly damaging Het
Hoxc9 T C 15: 102,892,522 (GRCm39) M245T probably damaging Het
Lpar6 T C 14: 73,476,882 (GRCm39) V281A possibly damaging Het
Med18 G T 4: 132,186,924 (GRCm39) Q192K possibly damaging Het
Mis18bp1 A G 12: 65,208,704 (GRCm39) V3A probably benign Het
Mpped2 G T 2: 106,613,968 (GRCm39) probably benign Het
Ms4a10 A G 19: 10,946,035 (GRCm39) V32A probably benign Het
Mthfd1l T A 10: 3,968,601 (GRCm39) probably null Het
Myh1 A T 11: 67,097,213 (GRCm39) Q422L possibly damaging Het
Myo3b A T 2: 70,085,721 (GRCm39) Q819L possibly damaging Het
Ncoa1 G A 12: 4,324,818 (GRCm39) T921I possibly damaging Het
Or6c214 A G 10: 129,591,238 (GRCm39) L27P possibly damaging Het
Or8c16 A C 9: 38,130,361 (GRCm39) T81P probably damaging Het
Phf3 A G 1: 30,843,734 (GRCm39) S1742P probably benign Het
Plxdc2 G A 2: 16,655,043 (GRCm39) probably null Het
Poc5 A G 13: 96,538,123 (GRCm39) T263A probably benign Het
Prss41 T A 17: 24,061,396 (GRCm39) I132F probably damaging Het
Pxylp1 A G 9: 96,707,195 (GRCm39) I329T probably benign Het
Rbm27 T C 18: 42,466,464 (GRCm39) probably null Het
Rnps1-ps T C 6: 7,982,857 (GRCm39) noncoding transcript Het
Rpgrip1l A T 8: 91,987,411 (GRCm39) V882E probably damaging Het
Sec16b T C 1: 157,388,369 (GRCm39) S579P probably benign Het
Senp7 A G 16: 55,996,249 (GRCm39) E776G probably damaging Het
Smc2 A G 4: 52,449,638 (GRCm39) I207V probably benign Het
Spata31e5 A G 1: 28,817,664 (GRCm39) F123L probably benign Het
Spats2 A G 15: 99,078,569 (GRCm39) T211A probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Syt11 A T 3: 88,656,148 (GRCm39) M1K probably null Het
Tacc2 A G 7: 130,225,585 (GRCm39) T757A possibly damaging Het
Tecta A C 9: 42,256,789 (GRCm39) M1629R probably benign Het
Ufsp2 T A 8: 46,437,137 (GRCm39) I101N probably damaging Het
Unc13b T A 4: 43,235,368 (GRCm39) C892S probably damaging Het
Ush1c A G 7: 45,874,361 (GRCm39) probably benign Het
Vwde A T 6: 13,208,381 (GRCm39) V167E probably benign Het
Wdfy4 A G 14: 32,862,608 (GRCm39) L588P probably damaging Het
Zfyve1 T C 12: 83,621,595 (GRCm39) T267A probably damaging Het
Other mutations in Or10d4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Or10d4b APN 9 39,534,661 (GRCm39) missense probably benign 0.37
IGL03199:Or10d4b APN 9 39,535,240 (GRCm39) missense probably benign 0.02
R2510:Or10d4b UTSW 9 39,534,727 (GRCm39) missense probably damaging 1.00
R4829:Or10d4b UTSW 9 39,534,734 (GRCm39) missense probably damaging 1.00
R5039:Or10d4b UTSW 9 39,534,856 (GRCm39) missense possibly damaging 0.68
R5394:Or10d4b UTSW 9 39,534,430 (GRCm39) missense probably benign 0.20
R5934:Or10d4b UTSW 9 39,534,479 (GRCm39) missense probably damaging 1.00
R6030:Or10d4b UTSW 9 39,534,637 (GRCm39) missense probably damaging 1.00
R6030:Or10d4b UTSW 9 39,534,637 (GRCm39) missense probably damaging 1.00
R7491:Or10d4b UTSW 9 39,535,268 (GRCm39) missense possibly damaging 0.65
R7509:Or10d4b UTSW 9 39,534,623 (GRCm39) missense probably damaging 0.96
R8063:Or10d4b UTSW 9 39,534,823 (GRCm39) missense probably damaging 0.99
R9133:Or10d4b UTSW 9 39,534,809 (GRCm39) nonsense probably null
R9653:Or10d4b UTSW 9 39,535,154 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02