Incidental Mutation 'R0363:Or4b1b'
ID 30164
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 038569-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R0363 (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 90112200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 240 (S240T)
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: S240T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097339
Gene: ENSMUSG00000075061
AA Change: S240T

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: S240T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 86.5%
Validation Efficiency 98% (78/80)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik T A 4: 109,381,520 (GRCm39) Q86L probably null Het
Abhd2 A G 7: 79,000,561 (GRCm39) D262G possibly damaging Het
Abhd5 T C 9: 122,197,211 (GRCm39) F133L possibly damaging Het
Agap2 T A 10: 126,926,834 (GRCm39) V957E probably damaging Het
Ankrd12 T C 17: 66,292,676 (GRCm39) K919R probably damaging Het
Ap1m1 T C 8: 73,006,738 (GRCm39) S245P probably benign Het
Ap1m1 T C 8: 73,010,568 (GRCm39) probably benign Het
Apcdd1 A G 18: 63,070,168 (GRCm39) Y145C possibly damaging Het
Apob A T 12: 8,060,136 (GRCm39) N2840Y probably damaging Het
Arel1 A G 12: 84,981,027 (GRCm39) S327P probably damaging Het
Arhgap21 C A 2: 20,885,944 (GRCm39) R421L probably damaging Het
Ccdc85a A T 11: 28,533,400 (GRCm39) I48N probably damaging Het
Chd6 A G 2: 160,856,244 (GRCm39) S672P probably damaging Het
Ciz1 G C 2: 32,267,375 (GRCm39) probably null Het
Cmbl G A 15: 31,585,588 (GRCm39) probably null Het
Cmya5 A G 13: 93,231,377 (GRCm39) V1237A possibly damaging Het
Cntnap4 A T 8: 113,583,143 (GRCm39) K1074* probably null Het
Cntnap5b A G 1: 100,202,193 (GRCm39) M347V probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cuzd1 A T 7: 130,917,991 (GRCm39) M203K probably benign Het
Cyp3a16 T C 5: 145,392,689 (GRCm39) probably benign Het
Dlgap3 A G 4: 127,129,314 (GRCm39) E892G probably damaging Het
Dnah7b T C 1: 46,275,948 (GRCm39) S2612P probably damaging Het
Epas1 T G 17: 87,113,276 (GRCm39) probably benign Het
Etv5 G A 16: 22,230,458 (GRCm39) A192V probably benign Het
Fa2h T A 8: 112,075,921 (GRCm39) H234L probably damaging Het
Fcho1 T C 8: 72,170,134 (GRCm39) Y47C probably damaging Het
Flvcr1 T A 1: 190,744,451 (GRCm39) probably benign Het
Il1rl1 CTTGTTGTTGTTGTTGTTG CTTGTTGTTGTTGTTGTTGTTG 1: 40,481,734 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Inpp4b T C 8: 82,610,886 (GRCm39) probably benign Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Kmt2a A G 9: 44,721,010 (GRCm39) probably null Het
Krt4 G A 15: 101,833,081 (GRCm39) R9C possibly damaging Het
Map1a T C 2: 121,132,525 (GRCm39) S876P probably damaging Het
Mettl21e A G 1: 44,250,190 (GRCm39) probably null Het
Msh2 C T 17: 88,024,904 (GRCm39) T594M probably benign Het
Mtmr3 A G 11: 4,437,536 (GRCm39) S973P probably damaging Het
Muc5ac A T 7: 141,354,697 (GRCm39) M889L probably benign Het
Ntn1 A G 11: 68,276,369 (GRCm39) I193T probably benign Het
Nudt13 A T 14: 20,359,851 (GRCm39) I193F probably damaging Het
Or2n1 A G 17: 38,486,338 (GRCm39) D121G probably damaging Het
Or3a1 C T 11: 74,225,925 (GRCm39) G44D probably damaging Het
Or5p73 A T 7: 108,064,941 (GRCm39) T137S possibly damaging Het
Otulin A G 15: 27,606,381 (GRCm39) V344A probably damaging Het
P2rx7 C T 5: 122,795,093 (GRCm39) Q128* probably null Het
Pcdhb22 G A 18: 37,652,213 (GRCm39) R227H probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Pltp C T 2: 164,682,056 (GRCm39) R394H probably benign Het
Ppip5k1 C G 2: 121,177,836 (GRCm39) A324P probably damaging Het
Pramel14 C T 4: 143,718,221 (GRCm39) M407I probably benign Het
Prdm13 A C 4: 21,679,737 (GRCm39) V251G unknown Het
Prkg1 T C 19: 31,641,596 (GRCm39) E29G probably damaging Het
Prrc2c A G 1: 162,525,380 (GRCm39) S409P unknown Het
Rp1 T A 1: 4,417,941 (GRCm39) D1057V probably damaging Het
Rttn G A 18: 89,029,079 (GRCm39) C599Y probably damaging Het
Shisa6 C T 11: 66,416,153 (GRCm39) R213Q probably benign Het
Slc3a1 T C 17: 85,340,273 (GRCm39) Y232H probably damaging Het
Slx4 G A 16: 3,797,953 (GRCm39) A1477V probably damaging Het
Ssrp1 T G 2: 84,871,018 (GRCm39) I218S probably damaging Het
St6galnac1 A C 11: 116,659,756 (GRCm39) S186A probably benign Het
Stab1 A G 14: 30,880,965 (GRCm39) probably benign Het
Sycp2 T C 2: 177,988,204 (GRCm39) probably benign Het
Syne2 T A 12: 76,118,981 (GRCm39) I5867N probably damaging Het
Taar7f T A 10: 23,925,839 (GRCm39) D144E probably damaging Het
Tlcd5 A T 9: 43,023,048 (GRCm39) M84K probably damaging Het
Tmem87b T A 2: 128,673,153 (GRCm39) S196T probably damaging Het
Tnfrsf21 A G 17: 43,348,768 (GRCm39) T127A probably benign Het
Trp73 A G 4: 154,148,406 (GRCm39) I336T probably benign Het
Ttl A G 2: 128,917,981 (GRCm39) I148V probably damaging Het
Ttll7 T C 3: 146,649,970 (GRCm39) Y667H probably benign Het
Ubr4 A G 4: 139,119,171 (GRCm39) T152A probably damaging Het
Vmn1r58 A T 7: 5,413,636 (GRCm39) V198E probably damaging Het
Vps52 T A 17: 34,181,091 (GRCm39) F376L probably benign Het
Zfp1007 T C 5: 109,824,754 (GRCm39) E232G probably benign 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
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
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 2013-04-24