Incidental Mutation 'R4688:Or4b1d'
ID 353815
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 041939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4688 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89966617-89972640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89969343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 47 (N47Y)
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: N47Y

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097344
Gene: ENSMUSG00000075066
AA Change: N47Y

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: N47Y

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214973
AA Change: N47Y

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215153
AA Change: N47Y

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215659
AA Change: N47Y

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215765
AA Change: N47Y

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,680 (GRCm39) N535S probably damaging Het
Abcc12 T C 8: 87,275,323 (GRCm39) S452G possibly damaging Het
Acacb C A 5: 114,342,824 (GRCm39) Q897K probably benign Het
Acot3 C A 12: 84,100,691 (GRCm39) R145S probably damaging Het
Ankrd54 A T 15: 78,938,782 (GRCm39) Y247N probably damaging Het
Arl11 G A 14: 61,548,546 (GRCm39) V119I probably benign Het
Atosb A G 4: 43,034,663 (GRCm39) F352S probably damaging Het
Atxn7 T A 14: 14,089,288 (GRCm38) M268K probably benign Het
Bms1 G A 6: 118,369,667 (GRCm39) R934C probably damaging Het
Brd10 A G 19: 29,694,501 (GRCm39) I1664T probably benign Het
Chrnb3 T C 8: 27,884,147 (GRCm39) S295P probably damaging Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Cnr1 A T 4: 33,944,571 (GRCm39) I320F probably benign Het
Cntn4 C T 6: 106,414,910 (GRCm39) P147L probably damaging Het
Col24a1 G A 3: 145,020,144 (GRCm39) V172I probably benign Het
Col9a3 A G 2: 180,249,424 (GRCm39) D262G probably damaging Het
Csrnp2 A G 15: 100,380,241 (GRCm39) V350A probably damaging Het
D630045J12Rik A G 6: 38,173,592 (GRCm39) V192A possibly damaging Het
Deptor A G 15: 55,072,177 (GRCm39) M219V probably benign Het
Dmrtb1 A T 4: 107,541,247 (GRCm39) L38Q probably damaging Het
Dvl2 G A 11: 69,898,344 (GRCm39) R367Q possibly damaging Het
Dync1h1 T G 12: 110,621,962 (GRCm39) I3435S probably damaging Het
Ecpas A G 4: 58,840,757 (GRCm39) V667A probably damaging Het
Eif2b3 A G 4: 116,916,046 (GRCm39) N218D probably benign Het
Epha2 A G 4: 141,046,292 (GRCm39) D497G probably benign Het
Epha7 G T 4: 28,821,367 (GRCm39) L177F probably damaging Het
Fam98c C T 7: 28,854,666 (GRCm39) E147K probably damaging Het
Fbxo17 A G 7: 28,431,979 (GRCm39) T19A probably benign Het
Fbxo47 A G 11: 97,747,049 (GRCm39) F339S probably damaging Het
Frmd4a G T 2: 4,542,122 (GRCm39) V234L possibly damaging Het
Gal3st2 A G 1: 93,800,245 (GRCm39) D32G probably damaging Het
Gpr135 T C 12: 72,117,720 (GRCm39) T16A probably benign Het
Gpr160 A T 3: 30,950,835 (GRCm39) R302S probably benign Het
Hrh2 C A 13: 54,368,820 (GRCm39) N265K probably benign Het
Htatip2 C A 7: 49,423,171 (GRCm39) A242E probably damaging Het
Igfbp7 T C 5: 77,555,482 (GRCm39) Y127C probably damaging Het
Igkv16-104 A G 6: 68,402,878 (GRCm39) Q57R possibly damaging Het
Ino80c A G 18: 24,241,903 (GRCm39) S161P probably damaging Het
Itprid1 G A 6: 55,944,132 (GRCm39) probably null Het
Kcnc1 A G 7: 46,047,259 (GRCm39) D53G probably benign Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Lce1h G T 3: 92,670,874 (GRCm39) R93S unknown Het
Lce1k T C 3: 92,713,951 (GRCm39) S78G unknown Het
Lhcgr T A 17: 89,072,580 (GRCm39) I156F probably damaging Het
Lpl T C 8: 69,352,077 (GRCm39) Y343H probably damaging Het
Lrp6 G T 6: 134,456,706 (GRCm39) R853S probably damaging Het
Lrrc7 A G 3: 157,854,242 (GRCm39) V1322A probably damaging Het
Lrrc74a C T 12: 86,784,472 (GRCm39) Q67* probably null Het
Megf6 A T 4: 154,338,271 (GRCm39) D447V probably damaging Het
Mep1a T C 17: 43,793,139 (GRCm39) D355G possibly damaging Het
Ncoa1 T C 12: 4,365,781 (GRCm39) D95G probably benign Het
Npepl1 A T 2: 173,956,235 (GRCm39) I139F possibly damaging Het
Nrcam T C 12: 44,594,020 (GRCm39) S262P probably benign Het
Nrp1 A G 8: 129,229,047 (GRCm39) N842D probably benign Het
Olfml3 A G 3: 103,639,497 (GRCm39) probably benign Het
Or1x6 A G 11: 50,939,815 (GRCm39) R294G probably damaging Het
Or6b6 T A 7: 106,571,068 (GRCm39) Y161F probably benign Het
Or6c204 G A 10: 129,022,514 (GRCm39) P259S probably damaging Het
Or6k8-ps1 T C 1: 173,979,162 (GRCm39) Y27H possibly damaging Het
Or8b3b A G 9: 38,584,659 (GRCm39) L27P probably damaging Het
Or9i1b A T 19: 13,896,605 (GRCm39) T74S probably benign Het
Pde2a A G 7: 101,152,041 (GRCm39) N316S probably benign Het
Pde4dip T A 3: 97,750,993 (GRCm39) R74* probably null Het
Pex13 A T 11: 23,605,472 (GRCm39) W253R possibly damaging Het
Piezo1 A T 8: 123,215,278 (GRCm39) W1444R probably damaging Het
Pla2g4e T C 2: 119,998,414 (GRCm39) K843R possibly damaging Het
Plxna2 C T 1: 194,326,753 (GRCm39) P229L probably damaging Het
Prelid3b G T 2: 174,308,592 (GRCm39) T131K probably benign Het
Pros1 T C 16: 62,709,370 (GRCm39) probably null Het
Prrc2c G T 1: 162,525,256 (GRCm39) P450Q unknown Het
Ptbp1 G T 10: 79,692,342 (GRCm39) V5F possibly damaging Het
Ptk2 T A 15: 73,078,074 (GRCm39) L997F probably damaging Het
Rims1 G T 1: 22,518,528 (GRCm39) S525* probably null Het
Sanbr A G 11: 23,543,449 (GRCm39) S530P probably benign Het
Sh2b3 T A 5: 121,956,697 (GRCm39) D318V probably benign Het
Slc16a13 A T 11: 70,111,101 (GRCm39) I88N probably damaging Het
Slit2 T A 5: 48,414,345 (GRCm39) probably null Het
Snx10 A G 6: 51,556,918 (GRCm39) N67S probably damaging Het
Stil A G 4: 114,898,505 (GRCm39) Y1045C probably damaging Het
Stra6 A G 9: 58,042,359 (GRCm39) probably null Het
Sympk A G 7: 18,788,335 (GRCm39) S1254G probably benign Het
Syt15 G T 14: 33,950,011 (GRCm39) G377V probably damaging Het
Taar4 A T 10: 23,836,731 (GRCm39) I114F probably damaging Het
Tcaf3 G A 6: 42,570,300 (GRCm39) probably null Het
Tgm7 A T 2: 120,924,502 (GRCm39) N558K probably benign Het
Tln2 T G 9: 67,304,935 (GRCm39) M1L probably benign Het
Trim50 C T 5: 135,395,994 (GRCm39) T314I probably damaging Het
Trp53rka A T 2: 165,333,312 (GRCm39) Y192* probably null Het
Ube3b T C 5: 114,531,139 (GRCm39) V211A probably benign Het
Ush2a A G 1: 188,132,138 (GRCm39) S787G probably benign Het
Vmn1r189 T C 13: 22,286,289 (GRCm39) M183V probably damaging Het
Vps13d G T 4: 144,904,782 (GRCm39) Q115K probably benign Het
Zfp358 A G 8: 3,545,493 (GRCm39) D25G probably damaging Het
Zfp521 T G 18: 13,977,647 (GRCm39) K922T probably damaging Het
Zfp521 T A 18: 13,977,648 (GRCm39) K922* probably null Het
Zfp68 T A 5: 138,614,743 (GRCm39) K4* 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
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
R6519:Or4b1d UTSW 2 89,969,156 (GRCm39) missense possibly damaging 0.90
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'- CGGTCATAAGCCATCACTGTAAG -3'
(R):5'- CAGGTCTCTTGACTACTGGTATCC -3'

Sequencing Primer
(F):5'- TCTCAGTGACCCCAAAGAAGTGG -3'
(R):5'- CTGGTATCCAGTACACTTGAACTG -3'
Posted On 2015-10-21