Incidental Mutation 'R6174:Or1a1b'
ID 488209
Institutional Source Beutler Lab
Gene Symbol Or1a1b
Ensembl Gene ENSMUSG00000070377
Gene Name olfactory receptor family 1 subfamily A member 1B
Synonyms Olfr43, GA_x6K02T2P1NL-4359899-4358958, MOR125-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # R6174 (G1)
Quality Score 186.009
Status Not validated
Chromosome 11
Chromosomal Location 74097024-74098115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74097466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 192 (I192N)
Ref Sequence ENSEMBL: ENSMUSP00000150560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078936] [ENSMUST00000205664] [ENSMUST00000206743] [ENSMUST00000215550]
AlphaFold Q7TRX1
Predicted Effect probably damaging
Transcript: ENSMUST00000078936
AA Change: I192N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077966
Gene: ENSMUSG00000070377
AA Change: I192N

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 5.5e-59 PFAM
Pfam:7tm_1 41 238 5.9e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205664
AA Change: I192N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000206743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206870
Predicted Effect probably damaging
Transcript: ENSMUST00000215550
AA Change: I192N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T A 6: 91,919,517 (GRCm39) D725E probably damaging Het
Bco1 T A 8: 117,840,273 (GRCm39) Y264N probably damaging Het
Cd109 G A 9: 78,572,828 (GRCm39) probably null Het
Cdc45 T C 16: 18,613,454 (GRCm39) probably null Het
Ckap5 A G 2: 91,398,564 (GRCm39) E578G probably benign Het
Cracr2b T A 7: 141,044,749 (GRCm39) L193Q probably damaging Het
Dmxl2 G A 9: 54,301,011 (GRCm39) L2367F probably damaging Het
Dop1b T G 16: 93,563,110 (GRCm39) D871E probably damaging Het
Emc1 T C 4: 139,093,842 (GRCm39) Y651H probably benign Het
Enox1 T C 14: 77,745,627 (GRCm39) S41P possibly damaging Het
Fcgbpl1 A G 7: 27,839,384 (GRCm39) Y399C probably damaging Het
Foxa1 A G 12: 57,589,686 (GRCm39) L178P probably damaging Het
Gm57859 C A 11: 113,579,801 (GRCm39) H399N possibly damaging Het
Grm7 T A 6: 111,223,258 (GRCm39) Y433N probably benign Het
Gsta5 T A 9: 78,211,737 (GRCm39) Y166* probably null Het
Gtf3c2 G A 5: 31,315,555 (GRCm39) R813C probably damaging Het
H4c9 T A 13: 22,225,247 (GRCm39) T83S probably benign Het
Hacd3 T C 9: 64,912,909 (GRCm39) E117G probably damaging Het
Hmcn1 G A 1: 150,522,535 (GRCm39) T3455M probably benign Het
Itga6 A G 2: 71,664,053 (GRCm39) I61V possibly damaging Het
Jaml T C 9: 45,000,071 (GRCm39) L81P probably damaging Het
Loxhd1 T C 18: 77,499,874 (GRCm39) F782S probably damaging Het
Lrp1b T C 2: 41,339,275 (GRCm39) H742R probably benign Het
Macrod2 G T 2: 140,242,895 (GRCm39) M1I probably null Het
Mcf2l G A 8: 13,063,849 (GRCm39) W1020* probably null Het
Msgn1 A G 12: 11,258,924 (GRCm39) L9P probably damaging Het
Ngdn C A 14: 55,259,556 (GRCm39) S202R probably benign Het
Notch1 C T 2: 26,375,454 (GRCm39) G50R possibly damaging Het
Or14c46 A T 7: 85,918,009 (GRCm39) D329E probably benign Het
Or2d2b A T 7: 106,705,714 (GRCm39) M118K probably damaging Het
Or5d14 A T 2: 87,880,646 (GRCm39) C107* probably null Het
Osbpl10 A G 9: 114,938,555 (GRCm39) S211G probably benign Het
Pabpc6 G A 17: 9,887,084 (GRCm39) A489V probably benign Het
Pcdhb13 A T 18: 37,576,474 (GRCm39) D284V possibly damaging Het
Pde6c T C 19: 38,128,677 (GRCm39) S214P possibly damaging Het
Pofut1 C T 2: 153,101,536 (GRCm39) H192Y probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Prc1 G A 7: 79,954,544 (GRCm39) S165N probably benign Het
Prex1 A G 2: 166,414,883 (GRCm39) V304A probably benign Het
Ptpru T C 4: 131,513,065 (GRCm39) I881V probably benign Het
Radil A G 5: 142,472,870 (GRCm39) S847P probably benign Het
Rimklb A G 6: 122,433,371 (GRCm39) S317P probably damaging Het
Sdhc A T 1: 170,966,271 (GRCm39) L78* probably null Het
Skint6 T A 4: 112,696,510 (GRCm39) I1042F possibly damaging Het
Slc1a6 T A 10: 78,637,741 (GRCm39) D422E probably damaging Het
Slc29a1 A T 17: 45,900,854 (GRCm39) H71Q probably damaging Het
Slfn14 A T 11: 83,167,429 (GRCm39) D695E probably damaging Het
Spg11 A T 2: 121,917,286 (GRCm39) probably null Het
Srgap2 A G 1: 131,217,354 (GRCm39) V986A probably benign Het
Stab1 A T 14: 30,884,476 (GRCm39) C172* probably null Het
Tigd4 A G 3: 84,502,574 (GRCm39) H497R probably benign Het
Ubn2 G A 6: 38,438,471 (GRCm39) G60D probably damaging Het
Uckl1 C T 2: 181,214,866 (GRCm39) probably null Het
Vmn2r24 A T 6: 123,793,236 (GRCm39) K854N probably benign Het
Vps13d G A 4: 144,701,763 (GRCm39) Q3193* probably null Het
Wdr26 G A 1: 181,019,433 (GRCm39) L315F probably damaging Het
Zc3h8 C A 2: 128,785,775 (GRCm39) E24* probably null Het
Zfp39 A G 11: 58,782,213 (GRCm39) V183A probably benign Het
Zfp608 C A 18: 55,121,616 (GRCm39) probably benign Het
Other mutations in Or1a1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Or1a1b APN 11 74,097,481 (GRCm39) missense probably damaging 1.00
IGL03014:Or1a1b UTSW 11 74,097,653 (GRCm39) missense probably damaging 1.00
R1005:Or1a1b UTSW 11 74,097,962 (GRCm39) missense probably benign 0.03
R1056:Or1a1b UTSW 11 74,097,608 (GRCm39) missense probably benign 0.02
R1772:Or1a1b UTSW 11 74,097,398 (GRCm39) missense probably benign 0.00
R4611:Or1a1b UTSW 11 74,097,361 (GRCm39) missense possibly damaging 0.68
R4826:Or1a1b UTSW 11 74,097,157 (GRCm39) missense possibly damaging 0.91
R5524:Or1a1b UTSW 11 74,097,409 (GRCm39) missense probably damaging 1.00
R8400:Or1a1b UTSW 11 74,097,221 (GRCm39) missense possibly damaging 0.95
R9101:Or1a1b UTSW 11 74,097,322 (GRCm39) missense probably damaging 1.00
R9335:Or1a1b UTSW 11 74,097,832 (GRCm39) missense probably damaging 1.00
R9348:Or1a1b UTSW 11 74,097,289 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAATACATGCCCATGACTGTCC -3'
(R):5'- ATCAGTCGCCCACTTCATTATG -3'

Sequencing Primer
(F):5'- TGCCCATGACTGTCCCATAATAC -3'
(R):5'- GCAACAATTATGAGTCCACAACTTTG -3'
Posted On 2017-10-10