Incidental Mutation 'R1977:Or1ab2'
ID 221866
Institutional Source Beutler Lab
Gene Symbol Or1ab2
Ensembl Gene ENSMUSG00000046881
Gene Name olfactory receptor family 1 subfamily AB member 2
Synonyms MOR130-1, Olfr374, GA_x6K02T2NUPS-241490-242431
MMRRC Submission 039990-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R1977 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 72860884-72864353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72863698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 96 (G96D)
Ref Sequence ENSEMBL: ENSMUSP00000147605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000209675] [ENSMUST00000210435]
AlphaFold Q7TRY0
Predicted Effect probably benign
Transcript: ENSMUST00000055735
AA Change: G96D

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054673
Gene: ENSMUSG00000046881
AA Change: G96D

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.2e-60 PFAM
Pfam:7TM_GPCR_Srsx 35 224 1.3e-6 PFAM
Pfam:7tm_1 41 290 3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157835
Predicted Effect probably benign
Transcript: ENSMUST00000209675
AA Change: G96D

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000210435
AA Change: G96D

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210923
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 99% (66/67)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 G T 8: 123,508,272 (GRCm39) C256F probably damaging Het
Adgra2 T A 8: 27,605,789 (GRCm39) V647D possibly damaging Het
AI593442 A T 9: 52,589,492 (GRCm39) S28R probably damaging Het
Akr1c21 G C 13: 4,624,211 (GRCm39) G22R probably damaging Het
Ampd3 T C 7: 110,402,369 (GRCm39) W458R probably damaging Het
Arhgap23 G T 11: 97,342,273 (GRCm39) R185L possibly damaging Het
Arhgap45 A T 10: 79,856,652 (GRCm39) I67F probably damaging Het
Asah1 A G 8: 41,796,554 (GRCm39) probably null Het
Atl2 A G 17: 80,160,019 (GRCm39) Y56H probably damaging Het
Carf A T 1: 60,185,295 (GRCm39) I447F probably damaging Het
Crmp1 A G 5: 37,433,627 (GRCm39) N162S probably damaging Het
Cyp2a5 A G 7: 26,535,347 (GRCm39) E103G probably benign Het
Cyp2c40 T C 19: 39,766,485 (GRCm39) D370G probably damaging Het
Dhrs2 T A 14: 55,472,112 (GRCm39) M1K probably null Het
Dnah17 T C 11: 118,003,417 (GRCm39) E810G possibly damaging Het
E2f5 T A 3: 14,652,416 (GRCm39) I84N probably damaging Het
Eif2ak4 A T 2: 118,292,238 (GRCm39) K1185* probably null Het
Eif4ebp1 T A 8: 27,765,129 (GRCm39) M115K probably damaging Het
Evi5 A T 5: 107,947,005 (GRCm39) L505* probably null Het
Fbxw25 T A 9: 109,481,924 (GRCm39) Y254F possibly damaging Het
Gm7964 T A 7: 83,406,560 (GRCm39) F439Y possibly damaging Het
Gps1 A G 11: 120,676,652 (GRCm39) T124A probably damaging Het
Hopx T C 5: 77,265,463 (GRCm39) probably benign Het
Hoxd3 A G 2: 74,574,620 (GRCm39) S89G possibly damaging Het
Hrc A T 7: 44,985,638 (GRCm39) D263V probably damaging Het
Hs6st3 T C 14: 119,375,888 (GRCm39) I21T probably benign Het
Izumo4 A G 10: 80,538,955 (GRCm39) Y106C probably damaging Het
Lama2 A T 10: 26,866,796 (GRCm39) probably null Het
Lcorl A C 5: 45,932,762 (GRCm39) S123R probably null Het
Lgr4 A T 2: 109,842,273 (GRCm39) I729F probably damaging Het
Lonp1 T C 17: 56,922,068 (GRCm39) T771A possibly damaging Het
Matn3 T A 12: 9,011,110 (GRCm39) probably benign Het
Mdc1 T A 17: 36,161,822 (GRCm39) S912T probably benign Het
Mgam G A 6: 40,641,814 (GRCm39) V556I probably benign Het
Myom2 A T 8: 15,135,263 (GRCm39) I489F possibly damaging Het
Nfatc2 G A 2: 168,346,379 (GRCm39) T905I possibly damaging Het
Nme6 G A 9: 109,664,409 (GRCm39) R6Q probably damaging Het
Nr1h5 A G 3: 102,855,133 (GRCm39) S323P probably damaging Het
Nr4a3 C A 4: 48,056,539 (GRCm39) R364S probably damaging Het
Obox7 A T 7: 14,398,323 (GRCm39) D79V probably damaging Het
Or2a51 T A 6: 43,178,914 (GRCm39) V112D possibly damaging Het
Or2l5 G A 16: 19,333,586 (GRCm39) P267S probably damaging Het
Pan2 T C 10: 128,156,282 (GRCm39) V1171A probably damaging Het
Parp8 T A 13: 117,047,449 (GRCm39) I208F probably damaging Het
Pdgfc C T 3: 81,116,552 (GRCm39) T302I probably damaging Het
Pnpt1 A G 11: 29,091,256 (GRCm39) I337V probably benign Het
Polk T C 13: 96,625,736 (GRCm39) E436G probably damaging Het
Pramel7 A G 2: 87,321,465 (GRCm39) V190A probably benign Het
Rplp2 T C 7: 141,028,694 (GRCm39) probably benign Het
Sec23ip T A 7: 128,367,997 (GRCm39) S670T probably damaging Het
Sgk2 A G 2: 162,846,080 (GRCm39) N207S probably benign Het
Sh2d2a C T 3: 87,759,123 (GRCm39) Q242* probably null Het
Sh3pxd2b A C 11: 32,372,138 (GRCm39) N435T probably damaging Het
Slc36a4 T A 9: 15,645,506 (GRCm39) V311D probably damaging Het
Stx17 G A 4: 48,181,553 (GRCm39) V241M probably benign Het
Taok3 A T 5: 117,403,989 (GRCm39) K721N probably damaging Het
Tbxas1 A G 6: 38,925,575 (GRCm39) probably benign Het
Tmem87a G A 2: 120,204,985 (GRCm39) A377V probably benign Het
Topaz1 C T 9: 122,576,427 (GRCm39) T6M unknown Het
Tspan8 A G 10: 115,680,035 (GRCm39) I217V probably benign Het
Vmn2r125 A G 4: 156,707,162 (GRCm39) probably null Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Wdr59 A T 8: 112,185,270 (GRCm39) C888S probably benign Het
Other mutations in Or1ab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03022:Or1ab2 APN 8 72,863,968 (GRCm39) missense probably damaging 0.99
IGL03059:Or1ab2 APN 8 72,863,842 (GRCm39) missense probably damaging 1.00
R1662:Or1ab2 UTSW 8 72,863,623 (GRCm39) missense probably benign 0.09
R3965:Or1ab2 UTSW 8 72,864,108 (GRCm39) missense probably damaging 1.00
R4577:Or1ab2 UTSW 8 72,864,167 (GRCm39) nonsense probably null
R4702:Or1ab2 UTSW 8 72,864,044 (GRCm39) missense probably damaging 1.00
R4703:Or1ab2 UTSW 8 72,864,044 (GRCm39) missense probably damaging 1.00
R4705:Or1ab2 UTSW 8 72,864,044 (GRCm39) missense probably damaging 1.00
R4909:Or1ab2 UTSW 8 72,863,425 (GRCm39) missense probably damaging 1.00
R6542:Or1ab2 UTSW 8 72,863,715 (GRCm39) missense probably damaging 0.98
R6867:Or1ab2 UTSW 8 72,863,707 (GRCm39) missense possibly damaging 0.90
R7094:Or1ab2 UTSW 8 72,863,347 (GRCm39) intron probably benign
R7148:Or1ab2 UTSW 8 72,864,001 (GRCm39) missense possibly damaging 0.50
R8162:Or1ab2 UTSW 8 72,864,253 (GRCm39) missense noncoding transcript
R8224:Or1ab2 UTSW 8 72,864,223 (GRCm39) missense noncoding transcript
R8904:Or1ab2 UTSW 8 72,864,276 (GRCm39) missense probably damaging 1.00
R9130:Or1ab2 UTSW 8 72,863,697 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CATGTACCTTCTCACAGGCC -3'
(R):5'- TTGTGGCCACAGAACAAGAG -3'

Sequencing Primer
(F):5'- TTCTCACAGGCCTAGGGAAC -3'
(R):5'- TCAGGGCATTTGCAAAGGCTG -3'
Posted On 2014-08-25