Incidental Mutation 'R5754:Or5b124'
ID 444978
Institutional Source Beutler Lab
Gene Symbol Or5b124
Ensembl Gene ENSMUSG00000045678
Gene Name olfactory receptor family 5 subfamily B member 124
Synonyms MOR202-19, Olfr1489, GA_x6K02T2RE5P-3965668-3966609
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5754 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 13610477-13611418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13611357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 294 (E294G)
Ref Sequence ENSEMBL: ENSMUSP00000149711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053113] [ENSMUST00000217182]
AlphaFold Q8VFQ5
Predicted Effect probably damaging
Transcript: ENSMUST00000053113
AA Change: E294G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062444
Gene: ENSMUSG00000045678
AA Change: E294G

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.7e-53 PFAM
Pfam:7tm_1 39 289 1.2e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104103
Predicted Effect probably damaging
Transcript: ENSMUST00000217182
AA Change: E294G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T A 5: 8,984,320 (GRCm39) N683K probably benign Het
Atad2b T A 12: 5,060,351 (GRCm39) H915Q probably benign Het
Bltp2 T C 11: 78,160,367 (GRCm39) S609P probably damaging Het
Camk1d G T 2: 5,449,908 (GRCm39) P91Q probably benign Het
Camk1d G C 2: 5,449,910 (GRCm39) S90R probably damaging Het
Card11 T C 5: 140,885,524 (GRCm39) E345G probably damaging Het
Ccpg1 G T 9: 72,920,526 (GRCm39) V714L possibly damaging Het
Chst9 T C 18: 15,586,254 (GRCm39) E103G possibly damaging Het
Cnga1 C T 5: 72,762,615 (GRCm39) V300I probably benign Het
Crb1 T C 1: 139,159,337 (GRCm39) Y1295C probably damaging Het
Dnah5 A G 15: 28,402,014 (GRCm39) T3392A probably benign Het
Elp3 C A 14: 65,785,439 (GRCm39) R473L probably damaging Het
Epgn T A 5: 91,181,807 (GRCm39) I145N probably benign Het
Fam107b G A 2: 3,779,457 (GRCm39) G220D probably damaging Het
Fbn2 A G 18: 58,257,383 (GRCm39) V328A probably benign Het
Fn1 A T 1: 71,639,481 (GRCm39) I1770N probably damaging Het
Fndc1 T A 17: 7,988,585 (GRCm39) Y1159F unknown Het
Frem2 A G 3: 53,444,679 (GRCm39) L2484P probably damaging Het
Grk2 C T 19: 4,340,496 (GRCm39) R295H probably damaging Het
Gtf3c1 A T 7: 125,243,237 (GRCm39) V1789D possibly damaging Het
Hmgcl T C 4: 135,677,898 (GRCm39) V33A probably damaging Het
Ighv7-1 A G 12: 113,860,239 (GRCm39) F51S probably damaging Het
Kcna6 A G 6: 126,716,688 (GRCm39) L67P probably damaging Het
Lamc1 A T 1: 153,123,030 (GRCm39) V720E probably benign Het
Lrch1 T C 14: 75,054,558 (GRCm39) D312G probably damaging Het
Mix23 A G 16: 35,905,427 (GRCm39) N63S probably benign Het
Nav2 A G 7: 49,206,794 (GRCm39) T1540A probably damaging Het
Nisch A T 14: 30,913,373 (GRCm39) probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Npc1l1 A G 11: 6,177,839 (GRCm39) Y524H probably damaging Het
Nrap T C 19: 56,377,916 (GRCm39) T25A possibly damaging Het
Nusap1 A G 2: 119,477,580 (GRCm39) K363R probably damaging Het
Or5ar1 T C 2: 85,671,656 (GRCm39) T160A probably damaging Het
Or7e177 T A 9: 20,212,390 (GRCm39) L298Q probably damaging Het
Pde4d T C 13: 110,074,547 (GRCm39) I384T probably damaging Het
Pkhd1 T A 1: 20,593,875 (GRCm39) R1413* probably null Het
Plcd3 T A 11: 102,964,592 (GRCm39) Y593F possibly damaging Het
Plxna1 A T 6: 89,310,087 (GRCm39) I1026N possibly damaging Het
Podxl T A 6: 31,501,329 (GRCm39) I409F probably damaging Het
Polq A C 16: 36,837,625 (GRCm39) Q179P probably benign Het
Pomt1 T C 2: 32,137,602 (GRCm39) V401A probably damaging Het
Qdpr C T 5: 45,596,727 (GRCm39) G146S probably damaging Het
Shc4 T A 2: 125,512,218 (GRCm39) Q2L probably damaging Het
Skint8 T A 4: 111,807,387 (GRCm39) C358S probably benign Het
Smc5 T C 19: 23,221,467 (GRCm39) E354G possibly damaging Het
Snx30 T C 4: 59,868,275 (GRCm39) V129A probably damaging Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spag6 T A 2: 18,703,613 (GRCm39) probably benign Het
Trim28 T A 7: 12,763,036 (GRCm39) Y450N probably benign Het
Trip11 C T 12: 101,851,924 (GRCm39) W428* probably null Het
Umodl1 T A 17: 31,213,761 (GRCm39) V966E probably damaging Het
Utf1 A G 7: 139,524,704 (GRCm39) probably benign Het
Vmn1r72 T C 7: 11,403,776 (GRCm39) Y224C probably damaging Het
Whrn A G 4: 63,334,825 (GRCm39) S748P probably damaging Het
Zbtb41 T A 1: 139,359,816 (GRCm39) probably null Het
Zfhx3 T C 8: 109,526,964 (GRCm39) F954L probably damaging Het
Zfp456 A T 13: 67,514,359 (GRCm39) I449K probably benign Het
Other mutations in Or5b124
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Or5b124 APN 19 13,610,903 (GRCm39) missense probably benign 0.25
IGL03052:Or5b124 UTSW 19 13,611,090 (GRCm39) missense probably benign 0.00
R0179:Or5b124 UTSW 19 13,610,504 (GRCm39) missense probably damaging 1.00
R0270:Or5b124 UTSW 19 13,611,048 (GRCm39) missense probably damaging 1.00
R0633:Or5b124 UTSW 19 13,610,700 (GRCm39) missense probably damaging 0.99
R4466:Or5b124 UTSW 19 13,610,801 (GRCm39) missense probably damaging 0.97
R4884:Or5b124 UTSW 19 13,611,391 (GRCm39) missense probably benign 0.14
R5247:Or5b124 UTSW 19 13,610,778 (GRCm39) missense probably damaging 1.00
R5332:Or5b124 UTSW 19 13,610,729 (GRCm39) missense possibly damaging 0.91
R6165:Or5b124 UTSW 19 13,610,952 (GRCm39) missense probably benign 0.02
R6165:Or5b124 UTSW 19 13,610,507 (GRCm39) missense possibly damaging 0.93
R6221:Or5b124 UTSW 19 13,610,830 (GRCm39) nonsense probably null
R6486:Or5b124 UTSW 19 13,611,055 (GRCm39) missense probably damaging 1.00
R7008:Or5b124 UTSW 19 13,610,985 (GRCm39) missense probably damaging 1.00
R7076:Or5b124 UTSW 19 13,611,244 (GRCm39) missense possibly damaging 0.95
R7539:Or5b124 UTSW 19 13,610,933 (GRCm39) nonsense probably null
R8278:Or5b124 UTSW 19 13,610,958 (GRCm39) missense possibly damaging 0.87
R8708:Or5b124 UTSW 19 13,611,401 (GRCm39) missense probably benign 0.00
R9169:Or5b124 UTSW 19 13,610,903 (GRCm39) missense probably benign
R9185:Or5b124 UTSW 19 13,610,765 (GRCm39) missense probably benign 0.03
R9200:Or5b124 UTSW 19 13,610,595 (GRCm39) missense probably damaging 1.00
R9229:Or5b124 UTSW 19 13,611,414 (GRCm39) missense probably damaging 0.98
R9381:Or5b124 UTSW 19 13,610,647 (GRCm39) missense probably damaging 1.00
R9708:Or5b124 UTSW 19 13,610,760 (GRCm39) missense probably damaging 1.00
Z1088:Or5b124 UTSW 19 13,610,817 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCAATCTTGAGGATGCGTTC -3'
(R):5'- AGAAGGGGCTTCATCTATGAAATACC -3'

Sequencing Primer
(F):5'- AGAAGGCCATTTCCACCTGTG -3'
(R):5'- GGGCTTCATCTATGAAATACCTATTC -3'
Posted On 2016-11-21