Incidental Mutation 'R0666:Or4b1b'
ID 218819
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 038851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R0666 (G1)
Quality Score 45
Status Validated
Chromosome 2
Chromosomal Location 90111991-90112917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90112212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 236 (S236T)
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: S236T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097339
Gene: ENSMUSG00000075061
AA Change: S236T

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: S236T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (89/89)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 52,958,591 (GRCm39) V782E probably damaging Het
Atg9a A G 1: 75,161,734 (GRCm39) L604P probably damaging Het
Atp1a3 T C 7: 24,689,974 (GRCm39) I482V probably benign Het
Bltp2 T G 11: 78,178,813 (GRCm39) M2026R probably damaging Het
Bltp2 T A 11: 78,168,038 (GRCm39) L1491* probably null Het
Ccdc18 T G 5: 108,311,530 (GRCm39) V412G probably benign Het
Ccn6 T C 10: 39,027,285 (GRCm39) R316G probably benign Het
Cct6a A G 5: 129,871,449 (GRCm39) noncoding transcript Het
Clpx A G 9: 65,217,507 (GRCm39) N25S probably damaging Het
Cnpy2 T A 10: 128,162,894 (GRCm39) C171* probably null Het
Cntnap3 C T 13: 64,905,211 (GRCm39) D857N probably damaging Het
Col5a1 A G 2: 27,922,697 (GRCm39) Y255C probably damaging Het
Coro7 A T 16: 4,449,775 (GRCm39) F638Y possibly damaging Het
Cpd A G 11: 76,673,153 (GRCm39) F1331L probably damaging Het
Csmd1 A T 8: 16,119,063 (GRCm39) I1842N possibly damaging Het
Dgkg T A 16: 22,381,480 (GRCm39) D490V probably damaging Het
Dnah9 A T 11: 65,976,284 (GRCm39) M1255K probably benign Het
E2f1 A G 2: 154,402,849 (GRCm39) V306A probably benign Het
Entpd1 A G 19: 40,648,350 (GRCm39) probably benign Het
Esrrb T A 12: 86,552,676 (GRCm39) I222N probably benign Het
Flt4 G T 11: 49,516,274 (GRCm39) A126S possibly damaging Het
Galnt11 C T 5: 25,457,145 (GRCm39) T237I possibly damaging Het
Galnt2l A T 8: 122,997,727 (GRCm39) probably benign Het
Gbf1 A G 19: 46,250,983 (GRCm39) probably benign Het
H2-T9 T C 17: 36,438,726 (GRCm39) T222A possibly damaging Het
Herc1 T A 9: 66,392,170 (GRCm39) probably benign Het
Hsph1 T C 5: 149,554,967 (GRCm39) Y105C probably damaging Het
Il23r T C 6: 67,411,664 (GRCm39) T358A probably benign Het
Il2ra C T 2: 11,647,884 (GRCm39) probably benign Het
Kbtbd4 G T 2: 90,744,459 (GRCm39) probably benign Het
Kcnt1 A G 2: 25,781,255 (GRCm39) probably benign Het
Kng2 A G 16: 22,815,872 (GRCm39) probably benign Het
Lap3 C T 5: 45,669,270 (GRCm39) T473I possibly damaging Het
Lrrk2 T C 15: 91,641,273 (GRCm39) probably null Het
Map1s A G 8: 71,366,696 (GRCm39) N534D possibly damaging Het
Mtg1 G A 7: 139,724,257 (GRCm39) V122I probably benign Het
Myadm T A 7: 3,345,865 (GRCm39) I209K probably damaging Het
Ntsr2 G A 12: 16,703,981 (GRCm39) V75I probably benign Het
Or8u10 G A 2: 85,915,557 (GRCm39) A188V probably benign Het
Pfn1 T C 11: 70,545,192 (GRCm39) T39A probably benign Het
Pipox T A 11: 77,774,651 (GRCm39) K144M probably benign Het
Plekhh1 G A 12: 79,115,889 (GRCm39) E811K probably damaging Het
Pnpla3 T A 15: 84,063,506 (GRCm39) W295R probably benign Het
Prkacb T A 3: 146,457,273 (GRCm39) T136S probably damaging Het
Ralbp1 T A 17: 66,161,124 (GRCm39) N473I probably benign Het
Rbp4 G A 19: 38,106,908 (GRCm39) T127M probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rps3a1 G A 3: 86,045,424 (GRCm39) probably benign Het
Scg3 G T 9: 75,551,222 (GRCm39) Y429* probably null Het
Shisal2b G T 13: 104,994,862 (GRCm39) T95K possibly damaging Het
Spag5 T C 11: 78,204,222 (GRCm39) S492P probably damaging Het
St7 T A 6: 17,934,238 (GRCm39) M540K probably damaging Het
Stxbp3 C A 3: 108,712,618 (GRCm39) V281F possibly damaging Het
Sun5 A G 2: 153,700,968 (GRCm39) V242A possibly damaging Het
Susd5 G T 9: 113,924,852 (GRCm39) R245L possibly damaging Het
Syne2 A G 12: 75,969,787 (GRCm39) E954G probably damaging Het
Synpo2 A T 3: 122,907,708 (GRCm39) V536E probably damaging Het
Tas2r140 T C 6: 133,032,405 (GRCm39) I118V probably benign Het
Tbx18 C A 9: 87,606,462 (GRCm39) V228L probably benign Het
Tdrd9 T A 12: 111,974,014 (GRCm39) probably benign Het
Tektl1 C A 10: 78,586,381 (GRCm39) L223F probably benign Het
Tg T C 15: 66,609,370 (GRCm39) M310T probably benign Het
Ticam2 T A 18: 46,693,718 (GRCm39) D123V probably damaging Het
Timm23 A G 14: 31,920,993 (GRCm39) probably benign Het
Tinag C T 9: 76,912,969 (GRCm39) R280H probably benign Het
Topbp1 G A 9: 103,186,011 (GRCm39) R51K probably benign Het
Tor1b A G 2: 30,843,925 (GRCm39) I121V probably damaging Het
Tpmt C A 13: 47,185,930 (GRCm39) G148V probably damaging Het
Tubb1 A G 2: 174,299,548 (GRCm39) E410G probably damaging Het
Ubash3b C A 9: 40,958,360 (GRCm39) V7L possibly damaging Het
Ube2o C T 11: 116,433,661 (GRCm39) E686K probably damaging Het
Unc13d T A 11: 115,960,318 (GRCm39) probably benign Het
Vmn1r183 A T 7: 23,754,601 (GRCm39) M135L probably benign Het
Xkr8 T C 4: 132,459,649 (GRCm39) Y43C probably damaging Het
Zc3h4 T A 7: 16,168,697 (GRCm39) N935K unknown Het
Zc3h7a G A 16: 10,974,167 (GRCm39) probably benign Het
Zfp84 C T 7: 29,476,276 (GRCm39) H323Y probably damaging Het
Zfp873 G T 10: 81,896,595 (GRCm39) S442I possibly damaging Het
Zfp938 A G 10: 82,061,606 (GRCm39) L338P probably 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
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
R4256:Or4b1b UTSW 2 90,112,406 (GRCm39) missense probably damaging 1.00
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'- ATTTTGGTTACTAGAGAGGTGCAGCAG -3'
(R):5'- AGTCGTCAAGTGTGTCACATGTTGG -3'

Sequencing Primer
(F):5'- TGCAGCAGTAGAAGAATGATACTC -3'
(R):5'- GGTCCCAATGTGATTGACCAC -3'
Posted On 2014-08-21