Incidental Mutation 'IGL02383:Or5b94'
ID 291444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b94
Ensembl Gene ENSMUSG00000044441
Gene Name olfactory receptor family 5 subfamily B member 94
Synonyms Olfr1442, GA_x6K02T2RE5P-3000589-3001527, MOR202-9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02383
Quality Score
Status
Chromosome 19
Chromosomal Location 12651543-12652607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12651899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 110 (D110G)
Ref Sequence ENSEMBL: ENSMUSP00000146650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049724] [ENSMUST00000057924] [ENSMUST00000207341] [ENSMUST00000208494] [ENSMUST00000208657] [ENSMUST00000213486] [ENSMUST00000215134]
AlphaFold Q0VEV7
Predicted Effect probably benign
Transcript: ENSMUST00000049724
SMART Domains Protein: ENSMUSP00000059886
Gene: ENSMUSG00000045030

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.4e-50 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.5e-6 PFAM
Pfam:7tm_1 39 288 8.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057924
AA Change: D110G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000050632
Gene: ENSMUSG00000044441
AA Change: D110G

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 7.9e-49 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.6e-6 PFAM
Pfam:7tm_1 39 288 1.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207341
AA Change: D110G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000208494
AA Change: D110G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000208657
AA Change: D110G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000213486
Predicted Effect probably benign
Transcript: ENSMUST00000215134
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik T C 6: 133,269,205 (GRCm39) probably benign Het
Adap2 C A 11: 80,051,015 (GRCm39) A115D probably damaging Het
Ankrd1 A G 19: 36,097,165 (GRCm39) V6A probably benign Het
Apobr T A 7: 126,185,779 (GRCm39) V430E probably benign Het
Arhgap28 A G 17: 68,203,084 (GRCm39) V123A probably benign Het
Atp2b2 A G 6: 113,790,903 (GRCm39) V167A probably damaging Het
B3galnt2 A T 13: 14,171,618 (GRCm39) *505C probably null Het
Bcat2 T A 7: 45,237,431 (GRCm39) L305Q probably damaging Het
Coa8 T A 12: 111,690,847 (GRCm39) probably benign Het
Col9a1 T C 1: 24,224,339 (GRCm39) S174P unknown Het
Ddx41 A T 13: 55,680,170 (GRCm39) D418E probably benign Het
Defa40 A G 8: 21,740,377 (GRCm39) D61G probably damaging Het
Exoc6 T C 19: 37,566,922 (GRCm39) F240L probably benign Het
Fbln7 G A 2: 128,737,477 (GRCm39) V431I probably benign Het
Gfral T A 9: 76,104,374 (GRCm39) N213Y probably damaging Het
Golgb1 A G 16: 36,706,562 (GRCm39) D22G probably benign Het
H2-M1 G A 17: 36,981,141 (GRCm39) T298I unknown Het
Haus3 A T 5: 34,323,580 (GRCm39) Y343* probably null Het
Hid1 T C 11: 115,243,446 (GRCm39) E534G probably damaging Het
Il4ra T C 7: 125,170,676 (GRCm39) V196A probably benign Het
Itm2b C A 14: 73,600,536 (GRCm39) E255* probably null Het
Kidins220 A T 12: 25,047,332 (GRCm39) probably benign Het
Klhl22 T A 16: 17,594,762 (GRCm39) F297Y possibly damaging Het
Krt9 T C 11: 100,082,041 (GRCm39) E253G probably damaging Het
Man2a2 G A 7: 80,009,388 (GRCm39) A822V probably damaging Het
Map3k6 T A 4: 132,973,932 (GRCm39) probably null Het
Med29 C A 7: 28,086,448 (GRCm39) R120L possibly damaging Het
Napa C T 7: 15,846,503 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,961,624 (GRCm39) Y351N probably benign Het
Nphs1 C T 7: 30,181,060 (GRCm39) probably benign Het
Prss16 T C 13: 22,193,697 (GRCm39) I33V probably benign Het
Ripk1 A G 13: 34,199,227 (GRCm39) Y193C probably damaging Het
Rph3a C T 5: 121,102,002 (GRCm39) R78H probably damaging Het
Rrp9 T A 9: 106,362,471 (GRCm39) I452N probably damaging Het
Ryr2 A T 13: 11,737,607 (GRCm39) probably benign Het
Sec23a A G 12: 59,048,813 (GRCm39) L103P probably damaging Het
Slc17a9 A C 2: 180,377,674 (GRCm39) D190A probably benign Het
Slc44a4 G A 17: 35,146,686 (GRCm39) V422I probably benign Het
Smc5 C T 19: 23,191,996 (GRCm39) probably benign Het
Tax1bp1 C T 6: 52,730,351 (GRCm39) S611F probably benign Het
Tmem38b G A 4: 53,854,345 (GRCm39) M192I probably benign Het
Unc45a G T 7: 79,989,410 (GRCm39) C34* probably null Het
Usp46 T A 5: 74,190,014 (GRCm39) M6L probably benign Het
Uspl1 G A 5: 149,150,212 (GRCm39) V471M probably damaging Het
Vmn1r35 T A 6: 66,655,875 (GRCm39) Q265L probably damaging Het
Vmn1r35 G T 6: 66,655,876 (GRCm39) Q265K probably damaging Het
Vmn1r50 A G 6: 90,084,461 (GRCm39) I69V possibly damaging Het
Vps33b A G 7: 79,935,082 (GRCm39) probably null Het
Xntrpc A C 7: 101,742,802 (GRCm39) D604A probably damaging Het
Yeats4 T A 10: 117,051,716 (GRCm39) R180S probably benign Het
Other mutations in Or5b94
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Or5b94 APN 19 12,651,924 (GRCm39) nonsense probably null
IGL00969:Or5b94 APN 19 12,651,605 (GRCm39) missense probably damaging 1.00
IGL01788:Or5b94 APN 19 12,652,442 (GRCm39) missense probably damaging 0.97
IGL02081:Or5b94 APN 19 12,652,180 (GRCm39) missense probably benign
IGL02335:Or5b94 APN 19 12,651,602 (GRCm39) missense probably damaging 0.97
IGL02389:Or5b94 APN 19 12,651,899 (GRCm39) missense probably benign 0.00
IGL02484:Or5b94 APN 19 12,652,223 (GRCm39) missense possibly damaging 0.56
IGL02682:Or5b94 APN 19 12,652,033 (GRCm39) missense probably damaging 0.98
IGL03136:Or5b94 APN 19 12,652,331 (GRCm39) missense probably damaging 0.99
R0109:Or5b94 UTSW 19 12,652,224 (GRCm39) missense probably benign 0.02
R0109:Or5b94 UTSW 19 12,652,224 (GRCm39) missense probably benign 0.02
R0112:Or5b94 UTSW 19 12,652,121 (GRCm39) missense probably benign
R4005:Or5b94 UTSW 19 12,652,210 (GRCm39) missense probably benign 0.05
R4346:Or5b94 UTSW 19 12,651,592 (GRCm39) missense probably benign 0.03
R4611:Or5b94 UTSW 19 12,652,318 (GRCm39) missense probably damaging 1.00
R5858:Or5b94 UTSW 19 12,651,743 (GRCm39) missense probably damaging 1.00
R5944:Or5b94 UTSW 19 12,652,283 (GRCm39) missense probably damaging 1.00
R6406:Or5b94 UTSW 19 12,652,184 (GRCm39) missense probably benign 0.21
R6923:Or5b94 UTSW 19 12,652,409 (GRCm39) missense possibly damaging 0.94
R7710:Or5b94 UTSW 19 12,652,340 (GRCm39) missense probably damaging 1.00
R8699:Or5b94 UTSW 19 12,652,246 (GRCm39) missense probably benign 0.21
Z1176:Or5b94 UTSW 19 12,651,674 (GRCm39) missense probably benign
Posted On 2015-04-16