Incidental Mutation 'R8765:Or2ab1'
ID 667840
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 068599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R8765 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58488171-58489292 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58488785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 182 (V182F)
Ref Sequence ENSEMBL: ENSMUSP00000154189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054683] [ENSMUST00000214990] [ENSMUST00000216965]
AlphaFold Q5NCC7
Predicted Effect possibly damaging
Transcript: ENSMUST00000054683
AA Change: V190F

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056457
Gene: ENSMUSG00000056564
AA Change: V190F

DomainStartEndE-ValueType
Pfam:7tm_4 49 324 3e-47 PFAM
Pfam:7tm_1 59 307 4.6e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214990
AA Change: V182F

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216965
AA Change: V188F

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik G A 2: 68,566,956 (GRCm39) D452N possibly damaging Het
Actr1a G T 19: 46,372,787 (GRCm39) probably benign Het
Alox15 A G 11: 70,240,819 (GRCm39) V187A probably benign Het
Alpk1 A T 3: 127,466,118 (GRCm39) N1129K probably damaging Het
Angptl1 A G 1: 156,684,727 (GRCm39) N299D probably benign Het
Ank2 T C 3: 126,850,731 (GRCm39) T128A possibly damaging Het
Armh4 C T 14: 49,920,100 (GRCm39) R743K probably damaging Het
Arsj G A 3: 126,232,781 (GRCm39) R509K probably benign Het
Atp6v0a2 G A 5: 124,793,534 (GRCm39) M630I probably damaging Het
BC107364 T C 3: 96,341,751 (GRCm39) H122R unknown Het
Bdh2 T C 3: 134,996,841 (GRCm39) M112T probably benign Het
C1qtnf3 G A 15: 10,952,843 (GRCm39) probably null Het
Cables1 T C 18: 12,056,422 (GRCm39) L326P probably benign Het
Cacna1c C A 6: 118,580,844 (GRCm39) A1769S Het
Cacna2d2 T C 9: 107,394,358 (GRCm39) L567P probably damaging Het
Cacnb4 C T 2: 52,327,001 (GRCm39) R399H probably damaging Het
Cacng4 A C 11: 107,625,976 (GRCm39) I205S probably damaging Het
Ciz1 A G 2: 32,260,895 (GRCm39) K269E probably damaging Het
Csf1 A G 3: 107,663,991 (GRCm39) V35A probably benign Het
Csmd1 G T 8: 16,760,627 (GRCm39) Y169* probably null Het
Ctnna1 T A 18: 35,384,293 (GRCm39) M756K probably damaging Het
Dnah7b T A 1: 46,392,159 (GRCm39) L3840Q possibly damaging Het
Fabp9 T C 3: 10,258,813 (GRCm39) *143W probably null Het
Fh1 C T 1: 175,435,378 (GRCm39) probably benign Het
Fmo2 T C 1: 162,707,966 (GRCm39) T390A probably benign Het
Fsip1 G T 2: 118,082,154 (GRCm39) D93E possibly damaging Het
Golga5 A G 12: 102,445,963 (GRCm39) D406G probably benign Het
Gucy2d C A 7: 98,108,347 (GRCm39) A760E probably benign Het
Hax1 T C 3: 89,904,780 (GRCm39) I141V probably benign Het
Hid1 T A 11: 115,239,786 (GRCm39) probably null Het
Hmcn1 C T 1: 150,556,413 (GRCm39) V2458I probably damaging Het
Igkv4-72 A G 6: 69,203,894 (GRCm39) V99A probably benign Het
Igkv5-39 G A 6: 69,877,915 (GRCm39) S16L probably benign Het
Ints4 T A 7: 97,151,016 (GRCm39) D294E possibly damaging Het
Lcn11 A G 2: 25,668,139 (GRCm39) Y99C probably damaging Het
Lrrc8b G A 5: 105,629,133 (GRCm39) R493H probably benign Het
Mon1b A T 8: 114,362,881 (GRCm39) D43V possibly damaging Het
Mrpl9 G A 3: 94,355,129 (GRCm39) V234I possibly damaging Het
Nek10 A T 14: 14,999,104 (GRCm38) E1034D probably damaging Het
Nfxl1 T C 5: 72,686,443 (GRCm39) H586R probably benign Het
Nit2 T A 16: 56,979,832 (GRCm39) D211V probably benign Het
Nle1 G A 11: 82,793,882 (GRCm39) R385C probably damaging Het
Or10ak12 T C 4: 118,666,159 (GRCm39) T301A probably benign Het
Or1i2 C T 10: 78,448,429 (GRCm39) M15I probably benign Het
Or2a25 T C 6: 42,889,102 (GRCm39) V215A probably benign Het
Or6ae1 T C 7: 139,742,467 (GRCm39) H132R probably benign Het
Or6c213 A G 10: 129,574,511 (GRCm39) Y92H probably damaging Het
Pcdh10 T C 3: 45,333,923 (GRCm39) I79T probably damaging Het
Peg10 A G 6: 4,754,492 (GRCm39) D91G unknown Het
Plec C T 15: 76,066,045 (GRCm39) A1342T unknown Het
Ppp2r3d A G 9: 124,439,649 (GRCm38) V68A Het
Pramel46 T C 5: 95,419,447 (GRCm39) M1V probably null Het
Psd3 A T 8: 68,416,093 (GRCm39) D315E possibly damaging Het
Rack1 A G 11: 48,694,286 (GRCm39) N162S probably benign Het
Slc12a8 C A 16: 33,338,731 (GRCm39) H11Q possibly damaging Het
Slc44a5 A T 3: 153,968,561 (GRCm39) D584V probably damaging Het
Spata18 T C 5: 73,825,992 (GRCm39) S100P Het
Stap2 G T 17: 56,310,145 (GRCm39) S53R probably damaging Het
Timeless T C 10: 128,080,412 (GRCm39) probably null Het
Tlk1 A T 2: 70,582,581 (GRCm39) S183T probably benign Het
Tpp2 T A 1: 44,011,849 (GRCm39) probably null Het
Ttn A T 2: 76,654,663 (GRCm39) probably benign Het
Uri1 A G 7: 37,696,145 (GRCm39) V40A probably benign Het
Vmn1r15 T C 6: 57,235,585 (GRCm39) V151A probably benign Het
Vmn1r198 A C 13: 22,539,269 (GRCm39) I252L probably damaging Het
Vmn2r101 T A 17: 19,809,245 (GRCm39) W125R probably damaging Het
Wdr89 A G 12: 75,679,688 (GRCm39) S189P probably damaging Het
Zfp1006 T C 8: 129,948,070 (GRCm39) D49G probably benign Het
Zfp873 T A 10: 81,896,072 (GRCm39) C268S probably damaging Het
Zfp932 T A 5: 110,154,827 (GRCm39) D8E probably benign Het
Zfyve16 T C 13: 92,658,055 (GRCm39) R619G probably benign Het
Zswim2 A T 2: 83,771,431 (GRCm39) I31N 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
R2062:Or2ab1 UTSW 11 58,488,396 (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
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'- TTCTTGGAGTCGACCGAGTG -3'
(R):5'- AGGTTGAAAAGGCCTTCTTTCTC -3'

Sequencing Primer
(F):5'- AGTCGACCGAGTGCTTTC -3'
(R):5'- AAAAGGCCTTCTTTCTCCCCTCAG -3'
Posted On 2021-03-08