Incidental Mutation 'R6519:Or4b1d'
ID 520946
Institutional Source Beutler Lab
Gene Symbol Or4b1d
Ensembl Gene ENSMUSG00000075066
Gene Name olfactory receptor family 4 subfamily B member 1D
Synonyms Olfr32, MOR227-9_p, MOR227-7P, MTPCR05, GA_x6K02T2Q125-51573576-51572650
MMRRC Submission 044646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R6519 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89966617-89972640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89969156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 109 (I109N)
Ref Sequence ENSEMBL: ENSMUSP00000149175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099755] [ENSMUST00000213293] [ENSMUST00000214973] [ENSMUST00000215153] [ENSMUST00000215659] [ENSMUST00000215765]
AlphaFold Q7TQZ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000099755
AA Change: I109N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097344
Gene: ENSMUSG00000075066
AA Change: I109N

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 1.7e-52 PFAM
Pfam:7tm_1 38 284 6.8e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213293
AA Change: I109N

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214973
AA Change: I109N

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215153
AA Change: I109N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215659
AA Change: I109N

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215765
AA Change: I109N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,723 (GRCm39) I53T probably damaging Het
Adgrv1 C T 13: 81,715,462 (GRCm39) D909N probably benign Het
Ahdc1 T C 4: 132,792,079 (GRCm39) Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 (GRCm39) V49E probably damaging Het
Apol6 T A 15: 76,935,476 (GRCm39) Y248* probably null Het
Apol7b T A 15: 77,307,548 (GRCm39) T316S probably benign Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
Brca2 A C 5: 150,464,444 (GRCm39) T1403P probably damaging Het
Cblc T C 7: 19,526,788 (GRCm39) Y148C probably damaging Het
Cct7 C A 6: 85,439,132 (GRCm39) Q149K probably benign Het
Cd53 T A 3: 106,669,461 (GRCm39) H179L probably benign Het
Cyp2b19 A G 7: 26,458,536 (GRCm39) T84A probably benign Het
Cyp3a41a A G 5: 145,652,308 (GRCm39) C64R probably damaging Het
Dclre1c T C 2: 3,430,366 (GRCm39) Y75H probably damaging Het
Dhx35 A T 2: 158,673,630 (GRCm39) I354F probably damaging Het
Diaph3 T C 14: 87,203,771 (GRCm39) N629S probably damaging Het
Dnase1 A T 16: 3,856,453 (GRCm39) S132C probably damaging Het
Dnttip2 T C 3: 122,069,120 (GRCm39) S112P probably benign Het
Eif4g3 C A 4: 137,721,319 (GRCm39) P48T probably benign Het
Fat4 A T 3: 39,057,020 (GRCm39) T4239S probably benign Het
Fbn2 A G 18: 58,196,647 (GRCm39) V1419A possibly damaging Het
Ghitm A C 14: 36,847,204 (GRCm39) M290R probably damaging Het
Glb1l T C 1: 75,177,700 (GRCm39) D406G probably benign Het
Glipr1l1 C A 10: 111,898,153 (GRCm39) A86D probably benign Het
Golm2 T C 2: 121,737,218 (GRCm39) V141A probably benign Het
Grm7 C T 6: 111,184,713 (GRCm39) A348V probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdac2 T A 10: 36,865,252 (GRCm39) N155K probably damaging Het
Hus1b A G 13: 31,130,930 (GRCm39) I243T probably benign Het
Kcnab2 T C 4: 152,496,450 (GRCm39) T65A probably damaging Het
Lasp1 T A 11: 97,706,383 (GRCm39) probably null Het
Lrch3 G A 16: 32,815,367 (GRCm39) probably benign Het
Ltb4r2 C T 14: 56,000,438 (GRCm39) T353M probably benign Het
Macf1 A G 4: 123,366,118 (GRCm39) M1316T probably benign Het
Msr1 G A 8: 40,077,262 (GRCm39) T116I probably benign Het
Nlrp5 A G 7: 23,117,343 (GRCm39) I356V probably benign Het
Npy C T 6: 49,800,669 (GRCm39) S31F possibly damaging Het
Nsd3 C T 8: 26,152,955 (GRCm39) P432S probably damaging Het
Nup160 A C 2: 90,548,561 (GRCm39) R1037S probably damaging Het
Or12j4 T A 7: 140,046,458 (GRCm39) S115T probably benign Het
Or8s5 C T 15: 98,237,929 (GRCm39) G314R probably benign Het
Pcx A G 19: 4,652,239 (GRCm39) E108G possibly damaging Het
Pecam1 A T 11: 106,590,468 (GRCm39) M102K probably benign Het
Pgd G T 4: 149,235,343 (GRCm39) Y433* probably null Het
Pkd1l3 A G 8: 110,355,404 (GRCm39) E744G probably benign Het
Rb1 A G 14: 73,535,503 (GRCm39) I118T probably benign Het
Rdh11 T A 12: 79,229,589 (GRCm39) H228L probably damaging Het
Rnf44 C T 13: 54,829,599 (GRCm39) R340Q probably damaging Het
Rtraf A G 14: 19,869,998 (GRCm39) V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 (GRCm39) T185A possibly damaging Het
Thsd1 A G 8: 22,749,081 (GRCm39) R590G probably damaging Het
Trappc14 A G 5: 138,260,110 (GRCm39) S344P probably damaging Het
Trbv19 T C 6: 41,155,573 (GRCm39) probably benign Het
Txnrd3 T C 6: 89,631,405 (GRCm39) probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xpnpep1 T C 19: 53,000,275 (GRCm39) N192D possibly damaging Het
Zfp955b T A 17: 33,521,051 (GRCm39) S173R possibly damaging Het
Zranb1 T A 7: 132,551,857 (GRCm39) C195* probably null Het
Other mutations in Or4b1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Or4b1d APN 2 89,969,418 (GRCm39) missense probably benign 0.30
IGL01976:Or4b1d APN 2 89,969,268 (GRCm39) missense probably damaging 1.00
IGL02076:Or4b1d APN 2 89,969,159 (GRCm39) missense probably damaging 1.00
IGL03030:Or4b1d APN 2 89,969,006 (GRCm39) missense possibly damaging 0.93
IGL03235:Or4b1d APN 2 89,969,414 (GRCm39) missense possibly damaging 0.88
IGL03410:Or4b1d APN 2 89,969,489 (GRCm39) start gained probably benign
R1240:Or4b1d UTSW 2 89,969,157 (GRCm39) missense possibly damaging 0.48
R1511:Or4b1d UTSW 2 89,968,748 (GRCm39) missense probably benign 0.13
R1602:Or4b1d UTSW 2 89,969,399 (GRCm39) missense probably damaging 1.00
R1828:Or4b1d UTSW 2 89,968,931 (GRCm39) missense probably damaging 0.99
R2023:Or4b1d UTSW 2 89,969,200 (GRCm39) nonsense probably null
R2177:Or4b1d UTSW 2 89,968,808 (GRCm39) missense possibly damaging 0.70
R2679:Or4b1d UTSW 2 89,968,889 (GRCm39) missense possibly damaging 0.93
R4490:Or4b1d UTSW 2 89,969,261 (GRCm39) missense probably damaging 0.97
R4585:Or4b1d UTSW 2 89,968,558 (GRCm39) missense probably benign 0.01
R4586:Or4b1d UTSW 2 89,968,558 (GRCm39) missense probably benign 0.01
R4649:Or4b1d UTSW 2 89,969,432 (GRCm39) missense probably damaging 0.99
R4688:Or4b1d UTSW 2 89,969,343 (GRCm39) missense possibly damaging 0.80
R4694:Or4b1d UTSW 2 89,968,593 (GRCm39) nonsense probably null
R5245:Or4b1d UTSW 2 89,968,606 (GRCm39) missense probably damaging 1.00
R5509:Or4b1d UTSW 2 89,969,236 (GRCm39) missense probably damaging 1.00
R5991:Or4b1d UTSW 2 89,968,578 (GRCm39) nonsense probably null
R6004:Or4b1d UTSW 2 89,969,343 (GRCm39) missense probably benign 0.32
R6128:Or4b1d UTSW 2 89,968,954 (GRCm39) nonsense probably null
R7472:Or4b1d UTSW 2 89,968,668 (GRCm39) missense probably damaging 1.00
R7892:Or4b1d UTSW 2 89,968,836 (GRCm39) missense probably benign 0.00
R8017:Or4b1d UTSW 2 89,969,170 (GRCm39) missense probably benign 0.02
R8046:Or4b1d UTSW 2 89,969,159 (GRCm39) missense probably damaging 1.00
R8464:Or4b1d UTSW 2 89,968,947 (GRCm39) missense possibly damaging 0.67
R8712:Or4b1d UTSW 2 89,969,114 (GRCm39) missense probably damaging 1.00
R8998:Or4b1d UTSW 2 89,969,472 (GRCm39) missense probably benign
R9789:Or4b1d UTSW 2 89,969,004 (GRCm39) missense probably benign 0.23
X0066:Or4b1d UTSW 2 89,968,734 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCAATCACATTGGGACCACAG -3'
(R):5'- TGGCCTCATTGTTGTGACAG -3'

Sequencing Primer
(F):5'- TCACATTGGGACCACAGAAAGG -3'
(R):5'- AGTAAGAGTCTGTATTCCCCCATG -3'
Posted On 2018-06-06