Incidental Mutation 'R2062:Or2ab1'
ID 228779
Institutional Source Beutler Lab
Gene Symbol Or2ab1
Ensembl Gene ENSMUSG00000056564
Gene Name olfactory receptor family 2 subfamily AB member 1
Synonyms GA_x6K02T2NKPP-822947-822000, Olfr324, MOR102-2
MMRRC Submission 040067-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R2062 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 58488171-58489292 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58488396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 58 (N58S)
Ref Sequence ENSEMBL: ENSMUSP00000154149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054683] [ENSMUST00000214990] [ENSMUST00000216965]
AlphaFold Q5NCC7
Predicted Effect probably damaging
Transcript: ENSMUST00000054683
AA Change: N60S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056457
Gene: ENSMUSG00000056564
AA Change: N60S

DomainStartEndE-ValueType
Pfam:7tm_4 49 324 3e-47 PFAM
Pfam:7tm_1 59 307 4.6e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214990
AA Change: N52S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000216965
AA Change: N58S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 99% (84/85)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
A2ml1 A T 6: 128,529,271 (GRCm39) M957K probably benign Het
Adam7 C A 14: 68,742,610 (GRCm39) V668F probably benign Het
Adcy7 T G 8: 89,038,902 (GRCm39) L306R probably damaging Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Amy2a1 T C 3: 113,324,217 (GRCm39) I108V probably benign Het
Ano7 T C 1: 93,318,035 (GRCm39) V249A probably benign Het
Aox1 T C 1: 58,098,351 (GRCm39) probably null Het
Asah2 A T 19: 32,002,274 (GRCm39) V290E probably damaging Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Atxn2l T A 7: 126,095,038 (GRCm39) K421N probably damaging Het
Cars2 T C 8: 11,597,747 (GRCm39) I110V probably damaging Het
Ccdc74a A G 16: 17,467,890 (GRCm39) N249S probably benign Het
Cenpe T C 3: 134,928,082 (GRCm39) probably benign Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Cnep1r1 G T 8: 88,845,445 (GRCm39) probably benign Het
Cyp2d37-ps C T 15: 82,574,289 (GRCm39) noncoding transcript Het
Cyp3a25 A G 5: 145,923,779 (GRCm39) probably benign Het
Dis3l G T 9: 64,246,855 (GRCm39) Q67K probably benign Het
Dnah1 A G 14: 30,993,086 (GRCm39) V2936A probably damaging Het
Dnah5 C T 15: 28,366,416 (GRCm39) R2710C probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Dvl3 G A 16: 20,345,101 (GRCm39) S361N probably benign Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Eif2ak3 T C 6: 70,881,181 (GRCm39) V1085A probably benign Het
Eif3b T C 5: 140,412,208 (GRCm39) Y226H probably damaging Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Ercc1 A G 7: 19,088,295 (GRCm39) *37W probably null Het
Evi2a G A 11: 79,418,593 (GRCm39) Q6* probably null Het
Faah C T 4: 115,855,770 (GRCm39) V552M probably damaging Het
Fat1 T A 8: 45,477,369 (GRCm39) N2138K probably damaging Het
Fat1 T A 8: 45,479,741 (GRCm39) V2929E probably damaging Het
Gm2959 A G 14: 42,235,658 (GRCm39) noncoding transcript Het
Gm6327 A T 16: 12,578,979 (GRCm39) noncoding transcript Het
Gm9912 T C 3: 148,890,795 (GRCm39) T113A unknown Het
Gtf2f2 A G 14: 76,155,136 (GRCm39) S142P possibly damaging Het
Hspg2 A T 4: 137,286,678 (GRCm39) T3666S possibly damaging Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Iqgap1 G A 7: 80,373,727 (GRCm39) Q1421* probably null Het
Itga3 T A 11: 94,944,902 (GRCm39) Q802L possibly damaging Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Lztr1 T C 16: 17,327,534 (GRCm39) V79A probably damaging Het
Mast4 C T 13: 102,895,601 (GRCm39) E736K probably benign Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mrto4 T C 4: 139,076,334 (GRCm39) K86E probably benign Het
Myof A G 19: 37,904,194 (GRCm39) V2A possibly damaging Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Nav3 G A 10: 109,555,882 (GRCm39) T1683M probably damaging Het
Nbea A G 3: 55,993,578 (GRCm39) probably benign Het
Nebl A T 2: 17,401,932 (GRCm39) M427K probably benign Het
Ngdn T C 14: 55,259,564 (GRCm39) V205A possibly damaging Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Oas1g T C 5: 121,023,946 (GRCm39) E121G probably damaging Het
Or10j3b T C 1: 173,043,277 (GRCm39) F20L probably benign Het
Or2w3 G T 11: 58,556,808 (GRCm39) C141F probably damaging Het
Or5m9 A G 2: 85,877,299 (GRCm39) T158A probably damaging Het
Or6c205 T A 10: 129,087,001 (GRCm39) Y199* probably null Het
Park7 T C 4: 150,989,732 (GRCm39) N76S probably benign Het
Pcdh8 A T 14: 80,005,651 (GRCm39) S912R probably damaging Het
Pkhd1 A G 1: 20,271,559 (GRCm39) I2998T probably damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Ppard A G 17: 28,518,663 (GRCm39) H388R probably damaging Het
Psma1 A G 7: 113,869,001 (GRCm39) S142P possibly damaging Het
Pth2r T C 1: 65,382,721 (GRCm39) I158T probably damaging Het
Rbl2 C A 8: 91,833,367 (GRCm39) P714Q probably damaging Het
Rexo2 A T 9: 48,385,813 (GRCm39) S104T possibly damaging Het
Sema5a T C 15: 32,609,363 (GRCm39) probably benign Het
Spmip10 C T 18: 56,721,535 (GRCm39) Q25* probably null Het
Sun2 A G 15: 79,622,852 (GRCm39) L109P probably damaging Het
Tdg A G 10: 82,477,368 (GRCm39) T116A probably benign Het
Terb1 A T 8: 105,195,380 (GRCm39) M587K possibly damaging Het
Tmcc1 C T 6: 116,020,019 (GRCm39) V118M probably benign Het
Tnfsf11 T A 14: 78,516,362 (GRCm39) N202I probably damaging Het
Togaram2 T C 17: 72,023,360 (GRCm39) S759P probably benign Het
Ttc7b G A 12: 100,291,948 (GRCm39) A208V probably damaging Het
Tti2 T C 8: 31,644,338 (GRCm39) probably benign Het
Wnk1 T C 6: 119,905,118 (GRCm39) probably null Het
Zfyve26 T C 12: 79,330,806 (GRCm39) probably null Het
Zfyve28 T C 5: 34,391,681 (GRCm39) M157V probably null Het
Zgrf1 T C 3: 127,406,999 (GRCm39) C1589R probably damaging Het
Other mutations in Or2ab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Or2ab1 APN 11 58,488,408 (GRCm39) missense possibly damaging 0.67
IGL02261:Or2ab1 APN 11 58,488,630 (GRCm39) missense probably benign 0.44
IGL02725:Or2ab1 APN 11 58,488,690 (GRCm39) missense probably benign 0.01
IGL03290:Or2ab1 APN 11 58,489,149 (GRCm39) missense probably damaging 1.00
IGL03308:Or2ab1 APN 11 58,488,525 (GRCm39) missense probably damaging 0.98
R0531:Or2ab1 UTSW 11 58,488,674 (GRCm39) missense probably benign 0.01
R1463:Or2ab1 UTSW 11 58,488,947 (GRCm39) missense probably damaging 0.98
R1813:Or2ab1 UTSW 11 58,489,133 (GRCm39) missense probably damaging 1.00
R2063:Or2ab1 UTSW 11 58,488,396 (GRCm39) missense probably damaging 1.00
R2065:Or2ab1 UTSW 11 58,488,396 (GRCm39) missense probably damaging 1.00
R2067:Or2ab1 UTSW 11 58,488,396 (GRCm39) missense probably damaging 1.00
R2068:Or2ab1 UTSW 11 58,488,396 (GRCm39) missense probably damaging 1.00
R4584:Or2ab1 UTSW 11 58,488,830 (GRCm39) missense probably benign 0.03
R6237:Or2ab1 UTSW 11 58,488,831 (GRCm39) missense probably damaging 0.97
R6397:Or2ab1 UTSW 11 58,488,338 (GRCm39) missense probably benign 0.00
R7056:Or2ab1 UTSW 11 58,489,044 (GRCm39) missense probably damaging 1.00
R8048:Or2ab1 UTSW 11 58,488,233 (GRCm39) missense unknown
R8765:Or2ab1 UTSW 11 58,488,785 (GRCm39) missense possibly damaging 0.87
R9044:Or2ab1 UTSW 11 58,489,126 (GRCm39) missense possibly damaging 0.78
R9708:Or2ab1 UTSW 11 58,488,927 (GRCm39) missense probably benign 0.00
Z1186:Or2ab1 UTSW 11 58,488,491 (GRCm39) missense possibly damaging 0.91
Z1186:Or2ab1 UTSW 11 58,488,776 (GRCm39) missense probably benign
Z1186:Or2ab1 UTSW 11 58,488,344 (GRCm39) missense probably benign 0.02
Z1186:Or2ab1 UTSW 11 58,488,356 (GRCm39) missense probably benign
Z1187:Or2ab1 UTSW 11 58,488,776 (GRCm39) missense probably benign
Z1187:Or2ab1 UTSW 11 58,488,344 (GRCm39) missense probably benign 0.02
Z1187:Or2ab1 UTSW 11 58,488,356 (GRCm39) missense probably benign
Z1187:Or2ab1 UTSW 11 58,488,491 (GRCm39) missense possibly damaging 0.91
Z1188:Or2ab1 UTSW 11 58,488,491 (GRCm39) missense possibly damaging 0.91
Z1188:Or2ab1 UTSW 11 58,488,356 (GRCm39) missense probably benign
Z1188:Or2ab1 UTSW 11 58,488,344 (GRCm39) missense probably benign 0.02
Z1188:Or2ab1 UTSW 11 58,488,776 (GRCm39) missense probably benign
Z1189:Or2ab1 UTSW 11 58,488,356 (GRCm39) missense probably benign
Z1189:Or2ab1 UTSW 11 58,488,344 (GRCm39) missense probably benign 0.02
Z1189:Or2ab1 UTSW 11 58,488,776 (GRCm39) missense probably benign
Z1189:Or2ab1 UTSW 11 58,488,491 (GRCm39) missense possibly damaging 0.91
Z1190:Or2ab1 UTSW 11 58,488,491 (GRCm39) missense possibly damaging 0.91
Z1190:Or2ab1 UTSW 11 58,488,356 (GRCm39) missense probably benign
Z1190:Or2ab1 UTSW 11 58,488,344 (GRCm39) missense probably benign 0.02
Z1190:Or2ab1 UTSW 11 58,488,776 (GRCm39) missense probably benign
Z1191:Or2ab1 UTSW 11 58,488,491 (GRCm39) missense possibly damaging 0.91
Z1191:Or2ab1 UTSW 11 58,488,356 (GRCm39) missense probably benign
Z1191:Or2ab1 UTSW 11 58,488,344 (GRCm39) missense probably benign 0.02
Z1191:Or2ab1 UTSW 11 58,488,776 (GRCm39) missense probably benign
Z1192:Or2ab1 UTSW 11 58,488,491 (GRCm39) missense possibly damaging 0.91
Z1192:Or2ab1 UTSW 11 58,488,356 (GRCm39) missense probably benign
Z1192:Or2ab1 UTSW 11 58,488,344 (GRCm39) missense probably benign 0.02
Z1192:Or2ab1 UTSW 11 58,488,776 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCTAAGAGTTTTCATGTGGGG -3'
(R):5'- ACTCGGTCGACTCCAAGAAC -3'

Sequencing Primer
(F):5'- GGGGGCCTTCGATTTCTTCTC -3'
(R):5'- TCGACTCCAAGAACAGGGTG -3'
Posted On 2014-09-17