Incidental Mutation 'R4242:Or10a48'
ID 320252
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 041059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R4242 (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 108424666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 180 (V180A)
Ref Sequence ENSEMBL: ENSMUSP00000081807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084754]
AlphaFold Q8VFZ6
Predicted Effect probably benign
Transcript: ENSMUST00000084754
AA Change: V180A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081807
Gene: ENSMUSG00000066241
AA Change: V180A

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 3.9e-57 PFAM
Pfam:7tm_1 40 289 5e-21 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (35/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 C T 5: 105,109,079 (GRCm39) R406H probably benign Het
Blcap T A 2: 157,402,343 (GRCm39) probably benign Het
Chd1 C T 17: 15,990,289 (GRCm39) R1614* probably null Het
Col6a2 C T 10: 76,443,940 (GRCm39) probably null Het
Csnk1e A G 15: 79,309,095 (GRCm39) F277S probably damaging Het
Dock5 T C 14: 68,065,939 (GRCm39) T355A probably benign Het
Dst G A 1: 34,045,297 (GRCm39) C148Y possibly damaging Het
Faim2 T A 15: 99,398,082 (GRCm39) I289F probably damaging Het
Gm4841 A G 18: 60,403,755 (GRCm39) S113P probably benign Het
Heatr5b A G 17: 79,064,351 (GRCm39) S1879P probably benign Het
Igll1 C A 16: 16,681,564 (GRCm39) G64C probably benign Het
Klhdc7a G A 4: 139,694,032 (GRCm39) P305L probably benign Het
Klhl13 T A X: 23,181,414 (GRCm39) D2V probably damaging Het
Kmt2e T C 5: 23,707,820 (GRCm39) probably benign Het
Lrmda C A 14: 22,077,303 (GRCm39) Y13* probably null Het
Mad2l1bp T C 17: 46,463,913 (GRCm39) E37G possibly damaging Het
Mphosph8 T C 14: 56,911,771 (GRCm39) S265P probably benign Het
Mpl T A 4: 118,313,968 (GRCm39) D99V probably damaging Het
Notch3 C T 17: 32,362,719 (GRCm39) G1302D possibly damaging Het
Odaph A G 5: 92,142,749 (GRCm39) I104V probably benign Het
Or2a25 A T 6: 42,888,480 (GRCm39) I8F possibly damaging Het
Pde6c G A 19: 38,151,293 (GRCm39) G608S probably damaging Het
Phf20 A G 2: 156,149,374 (GRCm39) probably benign Het
Pkdrej C T 15: 85,702,345 (GRCm39) R1197Q probably damaging Het
Prex2 C T 1: 11,226,528 (GRCm39) H764Y probably benign Het
Rtel1 T C 2: 180,991,727 (GRCm39) F375S probably damaging Het
Spanxn4 T C 12: 62,734,983 (GRCm39) noncoding transcript Het
Taf1 T C X: 100,588,109 (GRCm39) I457T probably benign Het
Tle3 A T 9: 61,314,705 (GRCm39) M233L probably benign Het
Trpv3 T C 11: 73,168,649 (GRCm39) I72T probably benign Het
Vmn1r237 A G 17: 21,534,925 (GRCm39) H216R possibly damaging Het
Xpnpep3 T A 15: 81,311,857 (GRCm39) F188I probably benign Het
Zfp69 G A 4: 120,791,672 (GRCm39) 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
R1610:Or10a48 UTSW 7 108,425,131 (GRCm39) missense probably benign
R1638:Or10a48 UTSW 7 108,424,442 (GRCm39) missense probably benign 0.03
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'- CTGTGCTGTAGAAGAGGGTGAC -3'
(R):5'- GATCGATTTGCTGCAATCTGC -3'

Sequencing Primer
(F):5'- CACATGTGGAAAAAGCCTTCTGTCTC -3'
(R):5'- GATTTGCTGCAATCTGCTACCC -3'
Posted On 2015-06-12