Incidental Mutation 'R4256:Or4b1b'
ID 321808
Institutional Source Beutler Lab
Gene Symbol Or4b1b
Ensembl Gene ENSMUSG00000075061
Gene Name olfactory receptor family 4 subfamily B member 1B
Synonyms Olfr1272, GA_x6K02T2Q125-51636504-51635578, MOR227-3
MMRRC Submission 041069-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R4256 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90111991-90112917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90112406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 171 (V171E)
Ref Sequence ENSEMBL: ENSMUSP00000150745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099750] [ENSMUST00000117141]
AlphaFold Q8VGN8
Predicted Effect probably damaging
Transcript: ENSMUST00000099750
AA Change: V171E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097339
Gene: ENSMUSG00000075061
AA Change: V171E

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 7.5e-52 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.5e-5 PFAM
Pfam:7tm_1 39 285 1.8e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117141
AA Change: V171E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (41/44)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Arsi T C 18: 61,050,388 (GRCm39) W424R probably damaging Het
Atad2 A G 15: 57,980,252 (GRCm39) S411P probably damaging Het
Cdhr2 G A 13: 54,861,818 (GRCm39) V72I probably damaging Het
Celf4 T C 18: 25,624,258 (GRCm39) I414V probably damaging Het
Cfap43 G A 19: 47,770,844 (GRCm39) T689I probably benign Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cyp3a11 A T 5: 145,806,005 (GRCm39) S121T probably benign Het
Dip2c C A 13: 9,659,092 (GRCm39) Q864K probably damaging Het
Fbxo3 A G 2: 103,881,510 (GRCm39) T281A probably damaging Het
Gm5148 T A 3: 37,768,758 (GRCm39) H154L unknown Het
Gsdma2 T A 11: 98,542,758 (GRCm39) probably null Het
Hfm1 T C 5: 107,052,663 (GRCm39) I273M possibly damaging Het
Hspa4l A G 3: 40,700,435 (GRCm39) E14G probably benign Het
Inava G T 1: 136,142,088 (GRCm39) N670K probably benign Het
Lgals12 T G 19: 7,584,081 (GRCm39) E5D possibly damaging Het
Lsg1 T G 16: 30,392,061 (GRCm39) I237L probably benign Het
Mettl14 T C 3: 123,177,254 (GRCm39) E49G probably damaging Het
Nbeal1 A G 1: 60,370,107 (GRCm39) I2675V probably benign Het
Or2y1e A T 11: 49,218,304 (GRCm39) Q22L probably benign Het
Or5k15 T G 16: 58,710,143 (GRCm39) S147R probably benign Het
Padi1 A T 4: 140,542,089 (GRCm39) L611Q probably damaging Het
Pcdhac2 A G 18: 37,277,764 (GRCm39) D248G probably damaging Het
Plekhm1 C A 11: 103,261,760 (GRCm39) R940L probably damaging Het
Rasa3 A G 8: 13,664,532 (GRCm39) probably null Het
Rspo2 C A 15: 42,939,307 (GRCm39) R161L probably benign Het
Sacs A G 14: 61,443,786 (GRCm39) Y1944C probably damaging Het
Slc7a10 G T 7: 34,898,140 (GRCm39) M297I probably damaging Het
Spata31e3 A C 13: 50,404,141 (GRCm39) S54A probably benign Het
Ssh2 A G 11: 77,299,009 (GRCm39) T112A possibly damaging Het
Ttc7 A T 17: 87,628,829 (GRCm39) probably null Het
Vmn1r64 T A 7: 5,886,895 (GRCm39) H216L probably benign Het
Vmn2r112 A G 17: 22,837,393 (GRCm39) K618R probably damaging Het
Vmp1 T A 11: 86,552,014 (GRCm39) I117L probably benign Het
Vsnl1 A T 12: 11,382,056 (GRCm39) Y108* probably null Het
Wdr31 A G 4: 62,375,675 (GRCm39) probably null Het
Zfp329 A G 7: 12,541,840 (GRCm39) V284A probably benign Het
Zfp551 G A 7: 12,150,318 (GRCm39) H364Y possibly damaging Het
Other mutations in Or4b1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Or4b1b APN 2 90,112,425 (GRCm39) missense possibly damaging 0.55
IGL01824:Or4b1b APN 2 90,112,263 (GRCm39) missense probably damaging 1.00
IGL01951:Or4b1b APN 2 90,112,351 (GRCm39) missense probably damaging 1.00
IGL02473:Or4b1b APN 2 90,112,040 (GRCm39) missense probably null 1.00
IGL02494:Or4b1b APN 2 90,112,295 (GRCm39) missense probably benign 0.35
IGL03410:Or4b1b APN 2 90,112,557 (GRCm39) missense probably damaging 1.00
R0350:Or4b1b UTSW 2 90,112,926 (GRCm39) splice site probably null
R0363:Or4b1b UTSW 2 90,112,200 (GRCm39) missense probably damaging 1.00
R0401:Or4b1b UTSW 2 90,112,748 (GRCm39) missense probably damaging 1.00
R0666:Or4b1b UTSW 2 90,112,212 (GRCm39) missense probably damaging 0.96
R1860:Or4b1b UTSW 2 90,112,502 (GRCm39) missense probably damaging 1.00
R1861:Or4b1b UTSW 2 90,112,502 (GRCm39) missense probably damaging 1.00
R2374:Or4b1b UTSW 2 90,112,795 (GRCm39) missense possibly damaging 0.76
R4737:Or4b1b UTSW 2 90,112,725 (GRCm39) missense probably damaging 1.00
R4827:Or4b1b UTSW 2 90,112,547 (GRCm39) missense probably damaging 1.00
R5198:Or4b1b UTSW 2 90,126,737 (GRCm39) missense probably damaging 1.00
R5589:Or4b1b UTSW 2 90,112,313 (GRCm39) missense probably damaging 1.00
R6412:Or4b1b UTSW 2 90,112,202 (GRCm39) missense probably damaging 1.00
R7130:Or4b1b UTSW 2 90,112,266 (GRCm39) missense probably benign
R7317:Or4b1b UTSW 2 90,112,748 (GRCm39) missense probably damaging 1.00
R7497:Or4b1b UTSW 2 90,112,098 (GRCm39) missense possibly damaging 0.74
R7762:Or4b1b UTSW 2 90,126,975 (GRCm39) nonsense probably null
R8271:Or4b1b UTSW 2 90,112,616 (GRCm39) missense possibly damaging 0.74
R8347:Or4b1b UTSW 2 90,112,020 (GRCm39) missense probably benign 0.22
R8703:Or4b1b UTSW 2 90,126,837 (GRCm39) missense probably damaging 1.00
R8794:Or4b1b UTSW 2 90,112,150 (GRCm39) nonsense probably null
R8824:Or4b1b UTSW 2 90,126,356 (GRCm39) missense probably damaging 0.98
R8910:Or4b1b UTSW 2 90,126,848 (GRCm39) missense possibly damaging 0.80
R8934:Or4b1b UTSW 2 90,112,356 (GRCm39) missense probably benign 0.07
R9548:Or4b1b UTSW 2 90,111,991 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- TCTGCAGAATGCTTCCTCAAG -3'
(R):5'- GGGCTGTCTGGCTCAGATATTC -3'

Sequencing Primer
(F):5'- CCTCAAGCTGATTAGAATGATAGC -3'
(R):5'- GGTTGCTGAGATTCTCCTGC -3'
Posted On 2015-06-20