Incidental Mutation 'R0014:Or2at4'
ID 64869
Institutional Source Beutler Lab
Gene Symbol Or2at4
Ensembl Gene ENSMUSG00000073998
Gene Name olfactory receptor family 2 subfamily AT member 4
Synonyms MOR101-1, Olfr520, GA_x6K02T2PBJ9-2411789-2412739
MMRRC Submission 038309-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # R0014 (G1)
Quality Score 104
Status Validated
Chromosome 7
Chromosomal Location 99384352-99385302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99385256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 302 (V302A)
Ref Sequence ENSEMBL: ENSMUSP00000151459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098264] [ENSMUST00000220185]
AlphaFold E9Q518
Predicted Effect probably damaging
Transcript: ENSMUST00000098264
AA Change: V302A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095864
Gene: ENSMUSG00000073998
AA Change: V302A

DomainStartEndE-ValueType
Pfam:7tm_4 36 313 1.2e-59 PFAM
Pfam:7tm_1 46 295 7.7e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207139
Predicted Effect probably damaging
Transcript: ENSMUST00000220185
AA Change: V302A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.2358 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 100% (68/68)
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
A1bg T A 15: 60,791,581 (GRCm39) D92V probably damaging Het
Ankrd52 C A 10: 128,222,321 (GRCm39) T583K probably benign Het
C3ar1 C T 6: 122,827,810 (GRCm39) V136M probably damaging Het
Capg A G 6: 72,538,026 (GRCm39) E304G possibly damaging Het
Ccdc125 A C 13: 100,820,846 (GRCm39) N189T possibly damaging Het
Ccr5 T C 9: 123,924,658 (GRCm39) F87S probably damaging Het
Cd2ap T C 17: 43,118,819 (GRCm39) S540G probably benign Het
Cdt1 C T 8: 123,299,305 (GRCm39) T529M probably benign Het
Cfap126 A G 1: 170,953,353 (GRCm39) D49G possibly damaging Het
Cngb3 T C 4: 19,396,685 (GRCm39) I346T probably benign Het
Degs1l T C 1: 180,882,696 (GRCm39) F153L possibly damaging Het
Dgkd A G 1: 87,809,603 (GRCm39) D97G probably damaging Het
Dgkg A T 16: 22,384,114 (GRCm39) probably null Het
Dmbx1 G T 4: 115,775,221 (GRCm39) T358K probably damaging Het
Dnai3 T C 3: 145,787,178 (GRCm39) probably null Het
Epc2 A T 2: 49,412,537 (GRCm39) K172* probably null Het
F2rl2 A T 13: 95,837,417 (GRCm39) N154I probably damaging Het
Fyttd1 G A 16: 32,725,924 (GRCm39) R175Q probably damaging Het
Gbp5 T A 3: 142,212,496 (GRCm39) C395S probably damaging Het
Gen1 T C 12: 11,291,642 (GRCm39) N716D probably benign Het
Helz2 A G 2: 180,882,304 (GRCm39) L163P probably damaging Het
Hmox2 T A 16: 4,582,897 (GRCm39) L210Q probably damaging Het
Klhl28 T C 12: 65,004,076 (GRCm39) T146A probably benign Het
Lrrk2 T C 15: 91,686,248 (GRCm39) probably benign Het
Man2c1 T A 9: 57,046,985 (GRCm39) M580K probably benign Het
Neb G A 2: 52,177,168 (GRCm39) A1391V probably damaging Het
Nyap2 T C 1: 81,219,666 (GRCm39) S563P probably damaging Het
Or4k51 A G 2: 111,585,119 (GRCm39) D175G probably damaging Het
Or55b3 A G 7: 102,126,684 (GRCm39) I131T probably damaging Het
P2rx5 T A 11: 73,057,888 (GRCm39) probably benign Het
Pclo C T 5: 14,730,465 (GRCm39) probably benign Het
Pex1 G A 5: 3,676,141 (GRCm39) probably benign Het
Polr2g A G 19: 8,771,016 (GRCm39) I160T probably damaging Het
Psma8 A G 18: 14,859,587 (GRCm39) I86V possibly damaging Het
Ptpdc1 G T 13: 48,740,395 (GRCm39) Y345* probably null Het
Rcbtb1 G T 14: 59,472,691 (GRCm39) K493N probably benign Het
Rexo2 A T 9: 48,385,747 (GRCm39) S126T probably benign Het
Rorc T A 3: 94,284,920 (GRCm39) probably benign Het
Slc7a2 T C 8: 41,364,065 (GRCm39) L426P probably damaging Het
Syde1 T C 10: 78,425,868 (GRCm39) T100A probably benign Het
Tbc1d20 A T 2: 152,153,701 (GRCm39) Q342L probably benign Het
Thbs1 A G 2: 117,943,831 (GRCm39) T150A possibly damaging Het
Trpm1 A G 7: 63,897,970 (GRCm39) H317R probably damaging Het
Tut1 T A 19: 8,939,811 (GRCm39) L265Q possibly damaging Het
Wdfy4 A G 14: 32,829,130 (GRCm39) F1029L possibly damaging Het
Wdr7 A G 18: 64,037,172 (GRCm39) T1199A probably benign Het
Zfp458 A G 13: 67,406,154 (GRCm39) V95A possibly damaging Het
Zscan18 A T 7: 12,503,344 (GRCm39) F738L possibly damaging Het
Other mutations in Or2at4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Or2at4 APN 7 99,384,524 (GRCm39) missense probably benign 0.00
IGL01745:Or2at4 APN 7 99,384,595 (GRCm39) missense probably damaging 0.96
IGL01932:Or2at4 APN 7 99,384,707 (GRCm39) missense probably damaging 0.99
IGL01987:Or2at4 APN 7 99,384,478 (GRCm39) missense probably damaging 0.98
R0219:Or2at4 UTSW 7 99,385,135 (GRCm39) missense probably benign 0.00
R1577:Or2at4 UTSW 7 99,384,563 (GRCm39) missense probably damaging 1.00
R1931:Or2at4 UTSW 7 99,385,067 (GRCm39) missense possibly damaging 0.73
R6110:Or2at4 UTSW 7 99,384,377 (GRCm39) missense possibly damaging 0.93
R7723:Or2at4 UTSW 7 99,384,884 (GRCm39) missense possibly damaging 0.85
R8821:Or2at4 UTSW 7 99,384,893 (GRCm39) missense possibly damaging 0.94
R9468:Or2at4 UTSW 7 99,385,180 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TGTTCTGACACTACTCCCCAGACG -3'
(R):5'- ATTCTACTCCGAGCACTGGACCAC -3'

Sequencing Primer
(F):5'- TGCTTCGGATCAACTCCAAGG -3'
(R):5'- AGCACTGGACCACTCTGAG -3'
Posted On 2013-08-06