Incidental Mutation 'R5042:Or10a48'
ID 393257
Institutional Source Beutler Lab
Gene Symbol Or10a48
Ensembl Gene ENSMUSG00000066241
Gene Name olfactory receptor family 10 subfamily A member 48
Synonyms Olfr514, MOR268-1, GA_x6K02T2PBJ9-11156311-11155379
MMRRC Submission 042632-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R5042 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 108424272-108425204 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108424678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 176 (I176T)
Ref Sequence ENSEMBL: ENSMUSP00000081807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084754]
AlphaFold Q8VFZ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000084754
AA Change: I176T

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081807
Gene: ENSMUSG00000066241
AA Change: I176T

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 3.9e-57 PFAM
Pfam:7tm_1 40 289 5e-21 PFAM
Meta Mutation Damage Score 0.3671 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.8%
Validation Efficiency 100% (57/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,273,927 (GRCm39) noncoding transcript Het
4933413J09Rik C A 14: 26,097,436 (GRCm39) noncoding transcript Het
Aldh1a2 A G 9: 71,192,286 (GRCm39) I413V possibly damaging Het
Alpk2 C T 18: 65,483,579 (GRCm39) W143* probably null Het
Anpep G T 7: 79,489,217 (GRCm39) N318K probably benign Het
Art5 A T 7: 101,748,672 (GRCm39) L10H probably damaging Het
Atg2b T G 12: 105,587,521 (GRCm39) H1981P probably benign Het
B3gnt3 T C 8: 72,145,532 (GRCm39) T279A probably damaging Het
Bmp10 G T 6: 87,411,039 (GRCm39) E277D probably damaging Het
Ccdc180 A G 4: 45,916,255 (GRCm39) T191A probably damaging Het
Dars2 T A 1: 160,872,664 (GRCm39) probably benign Het
F5 T A 1: 164,047,020 (GRCm39) I2160N probably damaging Het
Fndc7 A T 3: 108,770,102 (GRCm39) V608D probably damaging Het
Gad1-ps A T 10: 99,281,516 (GRCm39) noncoding transcript Het
Gbp2b A G 3: 142,317,224 (GRCm39) K527E probably benign Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Hes3 T A 4: 152,371,500 (GRCm39) S150C possibly damaging Het
Hp1bp3 T A 4: 137,949,419 (GRCm39) M1K probably null Het
Il17rd T A 14: 26,817,998 (GRCm39) V229E probably damaging Het
Iqch A G 9: 63,403,516 (GRCm39) M634T possibly damaging Het
Magel2 C T 7: 62,029,354 (GRCm39) R753W unknown Het
Med26 A G 8: 73,250,919 (GRCm39) V60A probably damaging Het
Myo1d T A 11: 80,448,347 (GRCm39) D926V probably damaging Het
Nat1 T G 8: 67,944,228 (GRCm39) D201E probably benign Het
Nav3 G T 10: 109,605,129 (GRCm39) S981R probably benign Het
Nbn C A 4: 15,981,446 (GRCm39) L513M probably benign Het
Nfatc3 T C 8: 106,834,757 (GRCm39) V701A probably benign Het
Nlrp9a A G 7: 26,270,703 (GRCm39) D911G probably damaging Het
Npr2 A T 4: 43,647,002 (GRCm39) I712F probably damaging Het
Oplah G A 15: 76,189,909 (GRCm39) R235* probably null Het
Pcdha11 T A 18: 37,144,649 (GRCm39) Y247N probably damaging Het
Pcdhga9 A G 18: 37,870,630 (GRCm39) Y153C probably damaging Het
Pkd1 A T 17: 24,788,861 (GRCm39) D873V probably benign Het
Pnpla1 A G 17: 29,100,021 (GRCm39) N296S probably benign Het
Ppfia3 A G 7: 44,991,765 (GRCm39) V839A probably damaging Het
Ppm1j A T 3: 104,690,036 (GRCm39) Q148L probably null Het
Prune2 T A 19: 17,097,161 (GRCm39) N888K possibly damaging Het
Sh3bgr A G 16: 96,007,066 (GRCm39) D12G probably benign Het
Snph T A 2: 151,442,977 (GRCm39) I35F possibly damaging Het
Spag17 A T 3: 99,979,465 (GRCm39) D1442V probably damaging Het
Spidr T C 16: 15,936,767 (GRCm39) T113A probably benign Het
St13 A T 15: 81,249,693 (GRCm39) N349K probably damaging Het
Ttll6 C T 11: 96,045,430 (GRCm39) S549F possibly damaging Het
Uap1l1 A T 2: 25,252,097 (GRCm39) S473T possibly damaging Het
Vmn1r54 T C 6: 90,246,422 (GRCm39) V112A possibly damaging Het
Vmn2r57 G A 7: 41,078,086 (GRCm39) S124L probably benign Het
Wasf2 A T 4: 132,903,875 (GRCm39) R28W probably benign Het
Wwp2 T A 8: 108,275,117 (GRCm39) N417K possibly damaging Het
Zc3h13 A T 14: 75,576,836 (GRCm39) D1648V probably damaging Het
Other mutations in Or10a48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Or10a48 APN 7 108,424,280 (GRCm39) missense probably benign 0.00
IGL01469:Or10a48 APN 7 108,424,534 (GRCm39) missense probably benign 0.29
IGL02079:Or10a48 APN 7 108,425,143 (GRCm39) missense probably damaging 0.99
IGL02330:Or10a48 APN 7 108,425,206 (GRCm39) unclassified probably benign
IGL02662:Or10a48 APN 7 108,424,952 (GRCm39) missense probably benign 0.16
IGL02713:Or10a48 APN 7 108,424,801 (GRCm39) missense probably damaging 1.00
R1158:Or10a48 UTSW 7 108,424,385 (GRCm39) missense probably damaging 1.00
R1610:Or10a48 UTSW 7 108,425,131 (GRCm39) missense probably benign
R1638:Or10a48 UTSW 7 108,424,442 (GRCm39) missense probably benign 0.03
R4242:Or10a48 UTSW 7 108,424,666 (GRCm39) missense probably benign
R4630:Or10a48 UTSW 7 108,424,802 (GRCm39) missense probably damaging 1.00
R5967:Or10a48 UTSW 7 108,424,921 (GRCm39) missense probably benign 0.12
R7180:Or10a48 UTSW 7 108,425,186 (GRCm39) missense probably damaging 0.98
Z1088:Or10a48 UTSW 7 108,425,103 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGTGCTGTAGAAGAGGGTGAC -3'
(R):5'- ATCGATTTGCTGCAATCTGC -3'

Sequencing Primer
(F):5'- GTGGAAAAAGCCTTCTGTCTC -3'
(R):5'- GATTTGCTGCAATCTGCTACCC -3'
Posted On 2016-06-15