Incidental Mutation 'R2363:Or10aa3'
ID 247205
Institutional Source Beutler Lab
Gene Symbol Or10aa3
Ensembl Gene ENSMUSG00000047048
Gene Name olfactory receptor family 10 subfamily AA member 3
Synonyms GA_x6K02T2P20D-21124681-21123743, MOR123-2, Olfr432
MMRRC Submission 040344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R2363 (G1)
Quality Score 95
Status Validated
Chromosome 1
Chromosomal Location 173877941-173878879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 173878814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 292 (R292C)
Ref Sequence ENSEMBL: ENSMUSP00000150596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062665] [ENSMUST00000213211] [ENSMUST00000213381]
AlphaFold E9Q8M2
Predicted Effect probably damaging
Transcript: ENSMUST00000062665
AA Change: R292C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060341
Gene: ENSMUSG00000047048
AA Change: R292C

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 3.7e-47 PFAM
Pfam:7TM_GPCR_Srsx 35 307 1.2e-7 PFAM
Pfam:7tm_1 41 289 6.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192435
Predicted Effect probably damaging
Transcript: ENSMUST00000213211
AA Change: R292C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213381
AA Change: R292C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 98% (51/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T C 2: 103,397,528 (GRCm39) C153R probably damaging Het
Adam23 A G 1: 63,596,650 (GRCm39) probably null Het
Adpgk G T 9: 59,222,136 (GRCm39) M354I probably benign Het
Atmin G T 8: 117,681,653 (GRCm39) probably null Het
C1rl G A 6: 124,486,069 (GRCm39) G480D probably benign Het
C4b G A 17: 34,955,032 (GRCm39) probably benign Het
Cacnb1 G A 11: 97,903,672 (GRCm39) T127I possibly damaging Het
Cmya5 A T 13: 93,230,210 (GRCm39) V1626E probably benign Het
Cndp2 C T 18: 84,686,694 (GRCm39) G443S probably damaging Het
Crb1 A G 1: 139,265,016 (GRCm39) I134T possibly damaging Het
Dnaaf3 T C 7: 4,535,276 (GRCm39) probably null Het
Enam C T 5: 88,651,008 (GRCm39) P764L probably benign Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fbln1 G A 15: 85,111,341 (GRCm39) probably null Het
Flnb A G 14: 7,945,950 (GRCm38) I2452V possibly damaging Het
Fmo3 A T 1: 162,781,884 (GRCm39) W490R probably damaging Het
Gabrb1 C T 5: 72,026,916 (GRCm39) R106* probably null Het
Galnt4 C T 10: 98,944,923 (GRCm39) T216I probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Golph3 A G 15: 12,349,649 (GRCm39) D223G probably benign Het
Herc4 T A 10: 63,151,473 (GRCm39) F905I possibly damaging Het
Il23r T C 6: 67,429,401 (GRCm39) T314A probably benign Het
Lrrtm4 T C 6: 79,998,857 (GRCm39) W90R probably damaging Het
Maml2 C T 9: 13,532,541 (GRCm39) T585I probably damaging Het
Mpp3 G A 11: 101,911,312 (GRCm39) A170V probably damaging Het
Naip6 T A 13: 100,452,928 (GRCm39) K44N possibly damaging Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or1e17 A G 11: 73,831,182 (GRCm39) T37A possibly damaging Het
Or4k51 C T 2: 111,585,139 (GRCm39) P182S probably damaging Het
Or51b6 T A 7: 103,556,267 (GRCm39) M207K probably benign Het
Or6f2 A G 7: 139,756,878 (GRCm39) T282A probably damaging Het
Or7e165 T G 9: 19,694,892 (GRCm39) I154M probably benign Het
Or8c10 T C 9: 38,279,394 (GRCm39) I174T probably damaging Het
Pak1 T A 7: 97,535,521 (GRCm39) V204E probably benign Het
Pcdhb10 T A 18: 37,547,190 (GRCm39) C755* probably null Het
Pcdhb20 A G 18: 37,638,725 (GRCm39) Y417C probably damaging Het
Pkd1l3 G T 8: 110,355,341 (GRCm39) W723L probably benign Het
Plin1 C T 7: 79,376,139 (GRCm39) probably null Het
Polr3a A T 14: 24,525,960 (GRCm39) probably null Het
Ranbp2 A T 10: 58,314,758 (GRCm39) K1826I possibly damaging Het
Rapgef1 A G 2: 29,626,608 (GRCm39) I970V possibly damaging Het
Rdx C A 9: 51,980,173 (GRCm39) F255L probably damaging Het
Rp1l1 A T 14: 64,267,447 (GRCm39) H1011L possibly damaging Het
Serpina6 T C 12: 103,614,868 (GRCm39) D326G probably benign Het
Sh3tc2 A G 18: 62,123,966 (GRCm39) E909G probably benign Het
Shprh T A 10: 11,047,697 (GRCm39) V1015D probably damaging Het
Slfn8 A T 11: 82,894,920 (GRCm39) Y629N probably damaging Het
Triml1 A G 8: 43,594,408 (GRCm39) S8P probably damaging Het
Other mutations in Or10aa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01025:Or10aa3 APN 1 173,878,251 (GRCm39) missense probably damaging 1.00
IGL03002:Or10aa3 APN 1 173,878,191 (GRCm39) missense probably benign 0.03
R0020:Or10aa3 UTSW 1 173,878,413 (GRCm39) missense probably damaging 0.99
R0386:Or10aa3 UTSW 1 173,877,965 (GRCm39) missense probably benign 0.00
R1735:Or10aa3 UTSW 1 173,878,365 (GRCm39) missense probably benign
R1932:Or10aa3 UTSW 1 173,878,244 (GRCm39) missense probably damaging 1.00
R3930:Or10aa3 UTSW 1 173,878,076 (GRCm39) missense probably damaging 1.00
R4024:Or10aa3 UTSW 1 173,878,683 (GRCm39) missense probably benign 0.00
R4777:Or10aa3 UTSW 1 173,878,244 (GRCm39) missense probably damaging 1.00
R4946:Or10aa3 UTSW 1 173,878,400 (GRCm39) missense possibly damaging 0.95
R5250:Or10aa3 UTSW 1 173,878,838 (GRCm39) missense probably benign
R5646:Or10aa3 UTSW 1 173,878,853 (GRCm39) nonsense probably null
R6178:Or10aa3 UTSW 1 173,878,533 (GRCm39) missense probably benign 0.00
R6634:Or10aa3 UTSW 1 173,878,535 (GRCm39) missense probably benign 0.11
R7578:Or10aa3 UTSW 1 173,878,266 (GRCm39) missense possibly damaging 0.71
R7653:Or10aa3 UTSW 1 173,878,488 (GRCm39) missense probably benign 0.36
R8110:Or10aa3 UTSW 1 173,878,091 (GRCm39) missense probably benign 0.01
R8426:Or10aa3 UTSW 1 173,878,146 (GRCm39) missense probably damaging 1.00
R9008:Or10aa3 UTSW 1 173,878,413 (GRCm39) missense probably damaging 0.99
R9408:Or10aa3 UTSW 1 173,878,329 (GRCm39) missense
RF014:Or10aa3 UTSW 1 173,878,553 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- GTGCAAAAGCCTTTTCCACCTG -3'
(R):5'- ACGTTGGTAGGTTCAGGGAC -3'

Sequencing Primer
(F):5'- GTTCCTCCCATATAACCGTAGTGAC -3'
(R):5'- AGGTTCAGGGACTATATTTGTCTTAC -3'
Posted On 2014-10-30