Incidental Mutation 'R7723:Or2at4'
ID 595341
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 045779-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R7723 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 99384352-99385302 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99384884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 178 (Y178C)
Ref Sequence ENSEMBL: ENSMUSP00000151459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098264] [ENSMUST00000220185]
AlphaFold E9Q518
Predicted Effect possibly damaging
Transcript: ENSMUST00000098264
AA Change: Y178C

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095864
Gene: ENSMUSG00000073998
AA Change: Y178C

DomainStartEndE-ValueType
Pfam:7tm_4 36 313 1.2e-59 PFAM
Pfam:7tm_1 46 295 7.7e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000220185
AA Change: Y178C

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip G A 2: 22,761,574 (GRCm39) probably null Het
Brinp3 C T 1: 146,577,409 (GRCm39) T148I probably damaging Het
C1qa A T 4: 136,623,744 (GRCm39) C153* probably null Het
Camkk1 G T 11: 72,928,058 (GRCm39) R363L probably benign Het
Ccdc80 T G 16: 44,946,798 (GRCm39) probably null Het
Cenpu T C 8: 47,029,349 (GRCm39) S351P probably damaging Het
Chd9 C T 8: 91,741,837 (GRCm39) L1609F unknown Het
Cnr1 T A 4: 33,944,416 (GRCm39) I268N probably damaging Het
Cyp3a59 A T 5: 146,016,154 (GRCm39) I4F probably benign Het
Dph6 A G 2: 114,475,236 (GRCm39) V93A probably damaging Het
Egf T A 3: 129,499,786 (GRCm39) M785L probably benign Het
Fbn1 A T 2: 125,223,954 (GRCm39) C598* probably null Het
Fer T C 17: 64,203,273 (GRCm39) S68P probably damaging Het
Herc1 C T 9: 66,279,158 (GRCm39) T22I probably benign Het
Kat2b A G 17: 53,945,415 (GRCm39) D278G possibly damaging Het
Kdm1a C T 4: 136,285,060 (GRCm39) V520I probably benign Het
Lrrc4c G T 2: 97,460,999 (GRCm39) V542L possibly damaging Het
Lrrtm3 T C 10: 63,924,427 (GRCm39) T247A possibly damaging Het
Macf1 T C 4: 123,326,717 (GRCm39) S4929G probably benign Het
Mbd4 A T 6: 115,822,324 (GRCm39) H428Q possibly damaging Het
Mink1 C G 11: 70,503,736 (GRCm39) Q1183E probably benign Het
Myo9a C T 9: 59,687,141 (GRCm39) P82L probably damaging Het
Nts T C 10: 102,320,784 (GRCm39) T102A probably damaging Het
Nup35 T C 2: 80,486,375 (GRCm39) I230T possibly damaging Het
Nwd2 A T 5: 63,965,347 (GRCm39) T1644S possibly damaging Het
Nynrin T A 14: 56,109,502 (GRCm39) N1536K possibly damaging Het
Or10d5j A T 9: 39,867,920 (GRCm39) Y104N possibly damaging Het
Or13p10 A G 4: 118,522,914 (GRCm39) S67G probably benign Het
Or2l13b A T 16: 19,349,358 (GRCm39) L104* probably null Het
Or5d44 A C 2: 88,141,819 (GRCm39) V107G possibly damaging Het
Palld C T 8: 62,164,492 (GRCm39) V400I probably damaging Het
Pank2 T C 2: 131,122,258 (GRCm39) V261A probably damaging Het
Pcdhb3 C A 18: 37,435,565 (GRCm39) N510K probably damaging Het
Pfkfb2 A T 1: 130,635,325 (GRCm39) Y79N probably damaging Het
Phc2 C T 4: 128,616,882 (GRCm39) A385V probably benign Het
Prob1 T C 18: 35,785,942 (GRCm39) T771A possibly damaging Het
Psmb6 T C 11: 70,417,396 (GRCm39) V109A possibly damaging Het
Ptcd1 T C 5: 145,091,639 (GRCm39) T487A probably damaging Het
Ralgapa1 A T 12: 55,788,298 (GRCm39) M595K probably benign Het
Rps12 A T 10: 23,662,752 (GRCm39) V14D probably benign Het
Scn3b C A 9: 40,199,693 (GRCm39) S203* probably null Het
Serinc1 G A 10: 57,403,918 (GRCm39) P15L probably benign Het
Six2 A G 17: 85,995,103 (GRCm39) I93T probably benign Het
Slco1a1 T A 6: 141,854,795 (GRCm39) I619F probably damaging Het
Snx25 A C 8: 46,491,516 (GRCm39) V858G probably damaging Het
Sspo G A 6: 48,441,572 (GRCm39) C1903Y probably damaging Het
Tas2r116 T A 6: 132,832,867 (GRCm39) I156N probably benign Het
Tasp1 G T 2: 139,827,051 (GRCm39) T189K probably damaging Het
Tdrd6 A T 17: 43,936,851 (GRCm39) M1399K probably benign Het
Tecta C A 9: 42,278,232 (GRCm39) C1092F probably damaging Het
Tmem150a G A 6: 72,336,057 (GRCm39) V215I probably damaging Het
Tmem176b C T 6: 48,812,869 (GRCm39) V109I probably benign Het
Trav8d-1 T A 14: 53,016,321 (GRCm39) I69K probably damaging Het
Ttn A T 2: 76,638,419 (GRCm39) L13954I probably damaging Het
Veph1 C A 3: 66,113,093 (GRCm39) C237F possibly damaging Het
Vmn1r121 G A 7: 20,832,119 (GRCm39) T107I probably damaging Het
Zdhhc13 G A 7: 48,458,567 (GRCm39) M300I probably benign Het
Zfp608 T C 18: 55,030,673 (GRCm39) D1089G probably 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
R0014:Or2at4 UTSW 7 99,385,256 (GRCm39) missense probably damaging 0.99
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
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'- CAAAGCTTTACCTGCTCAGAAG -3'
(R):5'- AAGGCTTTGGAACGCCCTTC -3'

Sequencing Primer
(F):5'- TCAGAAGCCTTCATCCTGGTGG -3'
(R):5'- GAACGCCCTTCCTTGGAGTTG -3'
Posted On 2019-11-12