Incidental Mutation 'R1610:Or10a48'
ID 176735
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 039647-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 108424272-108425204 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108425131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 25 (H25L)
Ref Sequence ENSEMBL: ENSMUSP00000081807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084754]
AlphaFold Q8VFZ6
Predicted Effect probably benign
Transcript: ENSMUST00000084754
AA Change: H25L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081807
Gene: ENSMUSG00000066241
AA Change: H25L

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 3.9e-57 PFAM
Pfam:7tm_1 40 289 5e-21 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Chpf A G 1: 75,453,292 (GRCm39) V327A probably damaging Het
Cldn23 A G 8: 36,293,084 (GRCm39) Y135H probably damaging Het
Cobll1 C T 2: 64,963,986 (GRCm39) D211N probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Endog A T 2: 30,063,899 (GRCm39) I267F probably damaging Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Far2 T C 6: 148,058,956 (GRCm39) V214A possibly damaging Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Kcnq5 T G 1: 21,527,685 (GRCm39) T463P probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mc2r A G 18: 68,540,519 (GRCm39) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nfatc2ip A T 7: 125,986,579 (GRCm39) S359T probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Or8b1b C T 9: 38,375,927 (GRCm39) L197F probably damaging Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Ptpn22 G A 3: 103,809,512 (GRCm39) probably null Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Tonsl A T 15: 76,522,757 (GRCm39) Y165N probably damaging Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I probably benign 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
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
R5042:Or10a48 UTSW 7 108,424,678 (GRCm39) missense possibly damaging 0.72
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'- TAGTCAGGACCACCAGCATCTCAG -3'
(R):5'- TGCAAGTGGTTAGGCATCCTTCAAG -3'

Sequencing Primer
(F):5'- CCAGCATCTCAGGCATAACAG -3'
(R):5'- GCATCCTTCAAGTTGCTAATTGTG -3'
Posted On 2014-04-24