Incidental Mutation 'IGL01901:Or5b12'
ID 179522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b12
Ensembl Gene ENSMUSG00000048456
Gene Name olfactory receptor family 5 subfamily B member 12
Synonyms GA_x6K02T2RE5P-3249780-3248836, MOR202-5, Olfr1448
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL01901
Quality Score
Status
Chromosome 19
Chromosomal Location 12896727-12897671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12896947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 242 (H242R)
Ref Sequence ENSEMBL: ENSMUSP00000149296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054737] [ENSMUST00000213177] [ENSMUST00000213713] [ENSMUST00000216888]
AlphaFold Q8VFX1
Predicted Effect probably damaging
Transcript: ENSMUST00000054737
AA Change: H242R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055664
Gene: ENSMUSG00000048456
AA Change: H242R

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 3.2e-54 PFAM
Pfam:7tm_1 39 288 1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208769
Predicted Effect probably damaging
Transcript: ENSMUST00000213177
AA Change: H242R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000213713
AA Change: H242R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216888
AA Change: H242R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A G 14: 66,272,678 (GRCm39) probably benign Het
Aldh1a7 T G 19: 20,695,103 (GRCm39) Y154S probably damaging Het
Casc3 A G 11: 98,713,947 (GRCm39) D393G probably damaging Het
Cd180 A G 13: 102,842,936 (GRCm39) I661V probably benign Het
Cdh1 T C 8: 107,384,392 (GRCm39) S287P probably damaging Het
Clnk T C 5: 38,952,321 (GRCm39) N6S probably damaging Het
Cstdc6 C A 16: 36,154,625 (GRCm39) A11S probably damaging Het
Cyp17a1 C T 19: 46,659,531 (GRCm39) V100M possibly damaging Het
Ddhd2 A G 8: 26,238,621 (GRCm39) V53A probably damaging Het
Elovl7 T A 13: 108,410,927 (GRCm39) probably null Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm14180 A G 11: 99,625,053 (GRCm39) S22P unknown Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Golga5 G A 12: 102,446,061 (GRCm39) probably null Het
Gpr162 A T 6: 124,838,370 (GRCm39) F93L possibly damaging Het
Kcnh8 G A 17: 53,201,148 (GRCm39) probably benign Het
Lamp3 A T 16: 19,492,169 (GRCm39) F358L probably damaging Het
Mdn1 T G 4: 32,669,591 (GRCm39) D409E probably damaging Het
Ms4a10 T C 19: 10,940,374 (GRCm39) D211G probably benign Het
Ms4a3 T C 19: 11,616,630 (GRCm39) E4G possibly damaging Het
Myo15a A G 11: 60,418,260 (GRCm39) probably benign Het
Or2ag16 A G 7: 106,351,752 (GRCm39) V281A possibly damaging Het
Or4c10b A G 2: 89,711,826 (GRCm39) I219V probably damaging Het
Or51aa2 A T 7: 103,188,177 (GRCm39) L88Q probably damaging Het
Or51q1c A G 7: 103,653,274 (GRCm39) H264R probably damaging Het
Or6c217 A G 10: 129,737,722 (GRCm39) F286L probably benign Het
Penk T C 4: 4,134,465 (GRCm39) I61V probably benign Het
Pkhd1 T A 1: 20,290,307 (GRCm39) K2860N probably benign Het
Prtg C T 9: 72,762,348 (GRCm39) P492S probably damaging Het
Spata31e2 A G 1: 26,721,665 (GRCm39) F1172L probably benign Het
Tdrd7 T C 4: 45,989,225 (GRCm39) probably benign Het
Terf2ip A G 8: 112,738,700 (GRCm39) N196S probably benign Het
Tgtp1 T C 11: 48,878,382 (GRCm39) N108D possibly damaging Het
Thumpd3 A G 6: 113,036,932 (GRCm39) H277R probably benign Het
Tshz2 T A 2: 169,727,456 (GRCm39) L215Q possibly damaging Het
Ube3c T A 5: 29,873,005 (GRCm39) V1015E probably damaging Het
Utrn T A 10: 12,516,672 (GRCm39) K2307N probably damaging Het
Vmn1r75 A G 7: 11,614,739 (GRCm39) Y157C probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Or5b12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Or5b12 APN 19 12,897,490 (GRCm39) missense probably damaging 1.00
IGL01730:Or5b12 APN 19 12,896,926 (GRCm39) missense probably damaging 1.00
IGL02055:Or5b12 APN 19 12,896,930 (GRCm39) missense possibly damaging 0.78
R0152:Or5b12 UTSW 19 12,897,472 (GRCm39) missense possibly damaging 0.49
R0311:Or5b12 UTSW 19 12,897,460 (GRCm39) missense possibly damaging 0.91
R0349:Or5b12 UTSW 19 12,897,299 (GRCm39) missense probably damaging 1.00
R1873:Or5b12 UTSW 19 12,896,852 (GRCm39) missense probably damaging 1.00
R2371:Or5b12 UTSW 19 12,897,031 (GRCm39) missense probably benign 0.02
R3548:Or5b12 UTSW 19 12,897,031 (GRCm39) missense probably benign 0.02
R4697:Or5b12 UTSW 19 12,897,298 (GRCm39) missense probably damaging 0.99
R5482:Or5b12 UTSW 19 12,897,269 (GRCm39) missense probably damaging 0.96
R5748:Or5b12 UTSW 19 12,897,379 (GRCm39) missense probably damaging 1.00
R5749:Or5b12 UTSW 19 12,897,589 (GRCm39) missense probably benign 0.02
R5795:Or5b12 UTSW 19 12,897,188 (GRCm39) missense possibly damaging 0.95
R5952:Or5b12 UTSW 19 12,897,194 (GRCm39) missense probably benign 0.00
R6228:Or5b12 UTSW 19 12,897,301 (GRCm39) missense probably damaging 1.00
R6273:Or5b12 UTSW 19 12,896,764 (GRCm39) missense probably benign 0.02
R6341:Or5b12 UTSW 19 12,896,843 (GRCm39) missense probably benign 0.29
R6343:Or5b12 UTSW 19 12,896,946 (GRCm39) missense probably damaging 1.00
R6454:Or5b12 UTSW 19 12,897,395 (GRCm39) missense probably benign 0.10
R7666:Or5b12 UTSW 19 12,897,526 (GRCm39) missense probably damaging 0.99
R7810:Or5b12 UTSW 19 12,897,229 (GRCm39) missense probably benign 0.01
R7859:Or5b12 UTSW 19 12,897,346 (GRCm39) missense probably damaging 1.00
R7869:Or5b12 UTSW 19 12,896,911 (GRCm39) missense probably benign 0.26
R8518:Or5b12 UTSW 19 12,896,959 (GRCm39) missense probably damaging 0.99
R9011:Or5b12 UTSW 19 12,897,479 (GRCm39) missense probably damaging 1.00
R9043:Or5b12 UTSW 19 12,897,667 (GRCm39) missense probably benign 0.12
R9162:Or5b12 UTSW 19 12,897,024 (GRCm39) nonsense probably null
R9273:Or5b12 UTSW 19 12,897,446 (GRCm39) missense possibly damaging 0.64
R9279:Or5b12 UTSW 19 12,897,309 (GRCm39) nonsense probably null
Posted On 2014-05-07