Incidental Mutation 'IGL01012:Or10d4b'
ID 53759
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: 0.073) question?
Stock # IGL01012
Quality Score
Status
Chromosome 9
Chromosomal Location 39534421-39535461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 39534661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 81 (M81L)
Ref Sequence ENSEMBL: ENSMUSP00000076315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077060] [ENSMUST00000216584]
AlphaFold Q8VET5
Predicted Effect probably benign
Transcript: ENSMUST00000077060
AA Change: M81L

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076315
Gene: ENSMUSG00000059867
AA Change: M81L

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 benign
Transcript: ENSMUST00000216584
AA Change: M79L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,972,772 (GRCm39) M249K possibly damaging Het
Adamtsl1 T C 4: 86,260,426 (GRCm39) F879S possibly damaging Het
Afap1l2 T C 19: 56,918,693 (GRCm39) E30G probably damaging Het
Aqp9 A G 9: 71,037,831 (GRCm39) probably benign Het
Arhgap17 A T 7: 122,885,791 (GRCm39) probably benign Het
Arhgef10 T C 8: 15,029,977 (GRCm39) S921P probably damaging Het
Atp6v0e2 T C 6: 48,514,749 (GRCm39) I22T probably damaging Het
AY074887 C T 9: 54,857,963 (GRCm39) probably benign Het
Bcl2l15 T A 3: 103,740,730 (GRCm39) D65E probably damaging Het
C2cd6 A T 1: 59,036,507 (GRCm39) probably benign Het
Ccdc138 G A 10: 58,376,737 (GRCm39) probably null Het
Ccdc7b A G 8: 129,904,838 (GRCm39) T159A possibly damaging Het
Ccser1 A G 6: 61,615,474 (GRCm39) T659A probably benign Het
Cd300ld2 T A 11: 114,903,123 (GRCm39) I241F probably benign Het
Cep192 T A 18: 67,945,477 (GRCm39) N192K possibly damaging Het
Csmd1 T C 8: 15,967,341 (GRCm39) K3174R probably benign Het
Dpy30 A T 17: 74,614,749 (GRCm39) L65I probably damaging Het
Eci2 A T 13: 35,174,312 (GRCm39) L83* probably null Het
F7 A T 8: 13,083,409 (GRCm39) E183V probably damaging Het
Gabrg1 T C 5: 70,935,512 (GRCm39) K214R probably benign Het
Galr2 A T 11: 116,173,996 (GRCm39) T209S probably damaging Het
Gimap9 T C 6: 48,654,851 (GRCm39) probably null Het
Gip C A 11: 95,916,285 (GRCm39) F28L probably benign Het
Gpd2 A G 2: 57,254,542 (GRCm39) N662S probably benign Het
Grik2 T G 10: 49,149,052 (GRCm39) D511A probably damaging Het
Ift122 T A 6: 115,876,452 (GRCm39) Y563N probably damaging Het
Ipo8 A G 6: 148,690,561 (GRCm39) probably benign Het
Islr T C 9: 58,064,511 (GRCm39) E332G probably damaging Het
Itgb7 G A 15: 102,136,020 (GRCm39) S5L probably benign Het
Itpr2 G A 6: 146,246,659 (GRCm39) R1087W probably damaging Het
Katnal2 C A 18: 77,105,250 (GRCm39) V66F probably damaging Het
Krt81 T C 15: 101,358,900 (GRCm39) D284G probably benign Het
Krtap4-8 T A 11: 99,670,831 (GRCm39) probably benign Het
Map1s C A 8: 71,366,554 (GRCm39) N486K probably benign Het
Med13l G A 5: 118,872,093 (GRCm39) D842N probably damaging Het
Mef2c T A 13: 83,803,714 (GRCm39) M306K probably damaging Het
Myb C T 10: 21,022,159 (GRCm39) V377I probably benign Het
Myocd C T 11: 65,075,451 (GRCm39) G558R possibly damaging Het
Nars1 G T 18: 64,638,039 (GRCm39) A305E probably damaging Het
Neb A T 2: 52,086,373 (GRCm39) N5233K probably benign Het
Nipsnap2 T C 5: 129,823,503 (GRCm39) I181T possibly damaging Het
Or1s2 T C 19: 13,758,937 (GRCm39) probably benign Het
P3h2 A C 16: 25,805,998 (GRCm39) C282G probably damaging Het
Pcgf5 T A 19: 36,420,268 (GRCm39) C167S probably damaging Het
Pck2 T C 14: 55,781,526 (GRCm39) probably benign Het
Peli2 C T 14: 48,490,187 (GRCm39) R169* probably null Het
Pramel16 T A 4: 143,676,784 (GRCm39) probably benign Het
Psme3ip1 G A 8: 95,313,990 (GRCm39) R104W probably damaging Het
Ralgapa2 T A 2: 146,263,659 (GRCm39) Q686L possibly damaging Het
Scap C A 9: 110,191,488 (GRCm39) P50H probably damaging Het
Sh3rf2 T A 18: 42,187,257 (GRCm39) D125E possibly damaging Het
Slc25a38 T C 9: 119,945,560 (GRCm39) probably benign Het
Slc35a5 A G 16: 44,964,195 (GRCm39) V346A probably damaging Het
Smad4 T A 18: 73,808,880 (GRCm39) N129I probably damaging Het
Sod2 C T 17: 13,232,464 (GRCm39) A163V possibly damaging Het
Spred3 T A 7: 28,860,948 (GRCm39) probably benign Het
Stag1 C A 9: 100,737,912 (GRCm39) A423E possibly damaging Het
Stk17b A T 1: 53,800,196 (GRCm39) S261T probably benign Het
Stx3 T C 19: 11,769,152 (GRCm39) K58E probably damaging Het
Timm10b C A 7: 105,290,345 (GRCm39) Y79* probably null Het
Tmem204 T C 17: 25,289,329 (GRCm39) D97G probably damaging Het
Tnfrsf25 T C 4: 152,202,885 (GRCm39) V181A probably benign Het
Trim54 T G 5: 31,294,302 (GRCm39) S313A probably benign Het
Unc79 T A 12: 103,078,714 (GRCm39) D1433E probably damaging Het
Vmn2r23 A G 6: 123,706,555 (GRCm39) T462A probably benign Het
Wdr27 T A 17: 15,146,509 (GRCm39) H162L probably damaging Het
Other mutations in Or10d4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03031:Or10d4b APN 9 39,534,694 (GRCm39) missense probably damaging 1.00
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 2013-06-28