Incidental Mutation 'R1056:Or1a1b'
ID 94390
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
MMRRC Submission 039146-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R1056 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 74097024-74098115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74097608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 145 (V145I)
Ref Sequence ENSEMBL: ENSMUSP00000150560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078936] [ENSMUST00000205664] [ENSMUST00000206743] [ENSMUST00000215550]
AlphaFold Q7TRX1
Predicted Effect probably benign
Transcript: ENSMUST00000078936
AA Change: V145I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000077966
Gene: ENSMUSG00000070377
AA Change: V145I

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 5.5e-59 PFAM
Pfam:7tm_1 41 238 5.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205664
AA Change: V145I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000206743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206870
Predicted Effect probably benign
Transcript: ENSMUST00000215550
AA Change: V145I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,924,295 (GRCm39) Y1649C probably damaging Het
Abcc10 A C 17: 46,614,880 (GRCm39) C1459W possibly damaging Het
Amfr A T 8: 94,712,097 (GRCm39) F278I probably benign Het
Anks1b G T 10: 90,757,291 (GRCm39) probably null Het
Bak1 A G 17: 27,240,247 (GRCm39) S147P possibly damaging Het
Bltp1 C A 3: 37,037,602 (GRCm39) H2469N possibly damaging Het
Bltp1 T A 3: 37,098,829 (GRCm39) M1152K probably benign Het
C7 T C 15: 5,075,260 (GRCm39) N144S possibly damaging Het
Casd1 T C 6: 4,641,967 (GRCm39) V748A probably benign Het
Ccdc168 C T 1: 44,100,087 (GRCm39) G337D probably damaging Het
Ccdc180 T C 4: 45,916,375 (GRCm39) S859P probably benign Het
Ccne2 T C 4: 11,192,707 (GRCm39) S2P probably damaging Het
Cdc42bpg T A 19: 6,364,051 (GRCm39) I541N probably benign Het
Cgnl1 T A 9: 71,633,177 (GRCm39) N58I probably damaging Het
Chd7 T C 4: 8,822,402 (GRCm39) S832P possibly damaging Het
Chl1 A T 6: 103,652,038 (GRCm39) Y318F possibly damaging Het
Coq2 G T 5: 100,805,813 (GRCm39) N274K probably benign Het
Crhr2 A T 6: 55,077,720 (GRCm39) V214E probably damaging Het
Dgkg G C 16: 22,419,291 (GRCm39) P70A probably damaging Het
Dync2h1 T C 9: 7,147,731 (GRCm39) I966M probably benign Het
Eif5b C G 1: 38,061,248 (GRCm39) R380G unknown Het
Fat4 T A 3: 38,945,541 (GRCm39) I1478N probably damaging Het
Impact A T 18: 13,109,581 (GRCm39) I92L probably benign Het
Ly6c2 A G 15: 74,983,445 (GRCm39) probably null Het
Lypd6b G A 2: 49,837,468 (GRCm39) V147I possibly damaging Het
Mdga2 T C 12: 66,769,894 (GRCm39) D192G probably damaging Het
Mms22l T C 4: 24,586,344 (GRCm39) probably null Het
Myo9a C T 9: 59,739,484 (GRCm39) T732I possibly damaging Het
Myrf C T 19: 10,200,850 (GRCm39) M274I probably benign Het
Nfx1 G A 4: 41,003,057 (GRCm39) R686Q probably damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Oog4 T C 4: 143,164,581 (GRCm39) T245A possibly damaging Het
Or52e3 A T 7: 102,869,625 (GRCm39) E233D probably benign Het
Pclo A T 5: 14,590,069 (GRCm39) K790* probably null Het
Pcm1 A G 8: 41,774,937 (GRCm39) E1668G probably damaging Het
Pkhd1l1 T A 15: 44,455,360 (GRCm39) N4040K probably damaging Het
Podnl1 T A 8: 84,855,905 (GRCm39) S222T probably benign Het
Ppil4 A G 10: 7,675,396 (GRCm39) T182A possibly damaging Het
Prdm13 T C 4: 21,678,544 (GRCm39) K649E probably damaging Het
Prob1 A T 18: 35,786,663 (GRCm39) H530Q probably benign Het
Rbbp4 A T 4: 129,211,442 (GRCm39) M404K probably damaging Het
Rilpl1 A T 5: 124,631,900 (GRCm39) F149I probably damaging Het
Sema6c T A 3: 95,078,527 (GRCm39) S543T probably benign Het
Sh3rf3 G T 10: 58,842,904 (GRCm39) W290L probably damaging Het
Slc2a12 T G 10: 22,541,350 (GRCm39) S402A probably benign Het
Tas2r131 T A 6: 132,934,030 (GRCm39) I260F possibly damaging Het
Tasp1 A G 2: 139,850,684 (GRCm39) I113T possibly damaging Het
Tnrc18 G A 5: 142,759,614 (GRCm39) R741* probably null Het
Ube2o G T 11: 116,437,290 (GRCm39) D244E probably damaging Het
Vmn1r206 A T 13: 22,804,784 (GRCm39) M141K probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp747 A G 7: 126,973,760 (GRCm39) S137P probably benign Het
Zfp951 A T 5: 104,963,151 (GRCm39) H138Q possibly damaging 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
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
R6174:Or1a1b UTSW 11 74,097,466 (GRCm39) missense probably damaging 0.97
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'- ATGATGCACAGCAGTGGCACAG -3'
(R):5'- AGCCATTCACTCTGACACTCGC -3'

Sequencing Primer
(F):5'- GTGGCACAGAGAAGACCCC -3'
(R):5'- CTGTAACTATTCCCAAGATGCTGG -3'
Posted On 2014-01-05