Incidental Mutation 'R7876:Or5b123'
ID 608470
Institutional Source Beutler Lab
Gene Symbol Or5b123
Ensembl Gene ENSMUSG00000094846
Gene Name olfactory receptor family 5 subfamily B member 123
Synonyms Olfr1487, MOR202-18, GA_x6K02T2RE5P-3951719-3952666
MMRRC Submission 045928-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7876 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 13596528-13597475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13596628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 34 (Y34C)
Ref Sequence ENSEMBL: ENSMUSP00000149988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076856] [ENSMUST00000208347] [ENSMUST00000209005] [ENSMUST00000216688] [ENSMUST00000217061]
AlphaFold Q8VFQ6
Predicted Effect probably damaging
Transcript: ENSMUST00000076856
AA Change: Y34C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076128
Gene: ENSMUSG00000094846
AA Change: Y34C

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 4.8e-55 PFAM
Pfam:7TM_GPCR_Srsx 34 304 1e-6 PFAM
Pfam:7tm_1 40 289 9.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208347
Predicted Effect probably benign
Transcript: ENSMUST00000209005
Predicted Effect probably benign
Transcript: ENSMUST00000216688
Predicted Effect probably damaging
Transcript: ENSMUST00000217061
AA Change: Y34C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,760,439 (GRCm39) K65R probably benign Het
Adprhl1 T C 8: 13,273,509 (GRCm39) D1083G probably benign Het
Aox1 C T 1: 58,101,330 (GRCm39) Q434* probably null Het
Atp13a5 T A 16: 29,140,566 (GRCm39) N330I possibly damaging Het
Brd8 A G 18: 34,739,740 (GRCm39) F678L probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C87436 T A 6: 86,423,411 (GRCm39) probably null Het
Cacna1h A T 17: 25,594,225 (GRCm39) I2311K probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cux1 T C 5: 136,392,161 (GRCm39) T187A probably benign Het
Dip2b A G 15: 100,088,922 (GRCm39) I1031V probably benign Het
Efna5 T C 17: 62,957,929 (GRCm39) N109S possibly damaging Het
Fat2 A T 11: 55,202,046 (GRCm39) S343T probably benign Het
Fubp1 T C 3: 151,937,928 (GRCm39) Y654H unknown Het
Gbe1 G A 16: 70,238,059 (GRCm39) V282I probably benign Het
Grik1 T C 16: 87,720,121 (GRCm39) K719E Het
Grm6 A T 11: 50,750,457 (GRCm39) Y540F probably damaging Het
Hmcn1 C T 1: 150,620,722 (GRCm39) V1163I probably benign Het
Igkv4-53 T A 6: 69,625,987 (GRCm39) Q60L possibly damaging Het
Igkv4-59 A T 6: 69,415,337 (GRCm39) S73T probably damaging Het
Il1a A C 2: 129,142,762 (GRCm39) W228G probably damaging Het
Klk13 A G 7: 43,370,403 (GRCm39) D22G probably benign Het
Kntc1 T A 5: 123,913,850 (GRCm39) C602S probably damaging Het
Kras T C 6: 145,170,848 (GRCm39) K176E probably benign Het
Krtap5-4 G A 7: 141,857,585 (GRCm39) C85Y unknown Het
Map3k13 A G 16: 21,741,069 (GRCm39) T799A probably benign Het
Mfhas1 T C 8: 36,056,697 (GRCm39) Y391H probably damaging Het
Morf4l1 G A 9: 89,975,859 (GRCm39) A311V possibly damaging Het
Ms4a8a T A 19: 11,056,848 (GRCm39) Q78L probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Nav3 T C 10: 109,689,359 (GRCm39) N306S probably benign Het
Ncapd3 T C 9: 26,956,519 (GRCm39) probably null Het
Nrg2 T A 18: 36,330,140 (GRCm39) Y25F unknown Het
Nup153 C T 13: 46,835,084 (GRCm39) S1407N probably benign Het
Or2c1 T A 16: 3,656,658 (GRCm39) probably null Het
Or4c99 A G 2: 88,329,999 (GRCm39) Y190C probably damaging Het
Pcf11 A C 7: 92,310,534 (GRCm39) S485A probably damaging Het
Pde8a A G 7: 80,973,819 (GRCm39) D592G probably damaging Het
Perm1 G A 4: 156,302,046 (GRCm39) G197R probably damaging Het
Pigo A T 4: 43,020,671 (GRCm39) M757K probably benign Het
Pls1 G A 9: 95,667,558 (GRCm39) Q117* probably null Het
Plscr2 T C 9: 92,169,781 (GRCm39) V77A probably benign Het
Polm T C 11: 5,781,695 (GRCm39) E267G probably benign Het
Pomgnt1 A T 4: 116,015,106 (GRCm39) K519M probably damaging Het
Ralyl G A 3: 14,104,850 (GRCm39) probably null Het
Rhbdd3 C T 11: 5,055,832 (GRCm39) T338I possibly damaging Het
Rnf31 T C 14: 55,830,534 (GRCm39) probably null Het
Slc51a A T 16: 32,297,601 (GRCm39) S99T probably benign Het
Sorbs1 A T 19: 40,285,032 (GRCm39) L700H probably damaging Het
Tdrd7 G A 4: 46,025,684 (GRCm39) V835I probably benign Het
Tmcc3 T C 10: 94,414,397 (GRCm39) V64A probably benign Het
Tmprss5 A G 9: 49,020,391 (GRCm39) S140G probably benign Het
Tspan11 G T 6: 127,900,629 (GRCm39) V67F possibly damaging Het
Usp42 T C 5: 143,707,426 (GRCm39) T252A probably damaging Het
Vmn2r97 A T 17: 19,149,326 (GRCm39) E238V probably damaging Het
Wdpcp T A 11: 21,661,486 (GRCm39) W253R probably benign Het
Zdhhc23 A T 16: 43,789,663 (GRCm39) V375E probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Zmym1 A T 4: 126,941,496 (GRCm39) M964K probably damaging Het
Other mutations in Or5b123
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Or5b123 APN 19 13,597,110 (GRCm39) missense probably damaging 1.00
R0281:Or5b123 UTSW 19 13,596,849 (GRCm39) missense probably benign 0.00
R0847:Or5b123 UTSW 19 13,596,915 (GRCm39) missense probably benign 0.10
R1852:Or5b123 UTSW 19 13,596,967 (GRCm39) missense probably damaging 0.99
R2026:Or5b123 UTSW 19 13,596,945 (GRCm39) missense probably damaging 1.00
R2877:Or5b123 UTSW 19 13,596,996 (GRCm39) missense probably damaging 0.97
R3965:Or5b123 UTSW 19 13,596,565 (GRCm39) missense probably damaging 1.00
R4935:Or5b123 UTSW 19 13,597,066 (GRCm39) missense probably benign 0.11
R5148:Or5b123 UTSW 19 13,596,874 (GRCm39) nonsense probably null
R5210:Or5b123 UTSW 19 13,596,763 (GRCm39) missense probably damaging 1.00
R5427:Or5b123 UTSW 19 13,596,714 (GRCm39) missense probably benign 0.31
R5940:Or5b123 UTSW 19 13,596,517 (GRCm39) splice site probably null
R6110:Or5b123 UTSW 19 13,597,249 (GRCm39) missense probably benign 0.03
R6125:Or5b123 UTSW 19 13,597,249 (GRCm39) missense probably benign 0.03
R6294:Or5b123 UTSW 19 13,596,730 (GRCm39) missense probably benign 0.08
R7051:Or5b123 UTSW 19 13,596,769 (GRCm39) missense possibly damaging 0.94
R7052:Or5b123 UTSW 19 13,596,990 (GRCm39) missense probably benign 0.13
R7324:Or5b123 UTSW 19 13,596,942 (GRCm39) missense probably benign
R7655:Or5b123 UTSW 19 13,597,197 (GRCm39) missense probably damaging 0.99
R7656:Or5b123 UTSW 19 13,597,197 (GRCm39) missense probably damaging 0.99
R7807:Or5b123 UTSW 19 13,597,285 (GRCm39) missense probably damaging 0.99
R8118:Or5b123 UTSW 19 13,597,109 (GRCm39) missense probably damaging 1.00
R8370:Or5b123 UTSW 19 13,596,661 (GRCm39) missense probably damaging 1.00
R9138:Or5b123 UTSW 19 13,596,658 (GRCm39) missense probably damaging 0.97
R9644:Or5b123 UTSW 19 13,597,344 (GRCm39) missense probably benign 0.41
R9664:Or5b123 UTSW 19 13,597,365 (GRCm39) missense probably benign 0.00
Z1176:Or5b123 UTSW 19 13,597,026 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCTGACACACGAATACGAG -3'
(R):5'- AACATCTGGGCAGCACATG -3'

Sequencing Primer
(F):5'- GTGAACGTACTTAAAATCACTTGCTG -3'
(R):5'- CAGCACATGCATTGTAGGATATG -3'
Posted On 2019-12-20