Incidental Mutation 'R1828:Or4b1d'
ID 206977
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 039855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R1828 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89966617-89972640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89968931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 184 (L184S)
Ref Sequence ENSEMBL: ENSMUSP00000150239 (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: L184S

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097344
Gene: ENSMUSG00000075066
AA Change: L184S

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: L184S

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214973
AA Change: L184S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215153
AA Change: L184S

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000215659
AA Change: L184S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215765
AA Change: L184S

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,190,962 (GRCm39) T156A probably benign Het
9230106D20Rik A T 10: 19,536,065 (GRCm39) noncoding transcript Het
Abca3 A G 17: 24,585,171 (GRCm39) D144G probably benign Het
Anxa2 T A 9: 69,390,260 (GRCm39) L121Q probably damaging Het
Anxa7 A T 14: 20,512,732 (GRCm39) I267N probably damaging Het
Asb14 A T 14: 26,633,797 (GRCm39) D334V possibly damaging Het
Batf3 A G 1: 190,830,714 (GRCm39) N20S probably benign Het
Bub1b A G 2: 118,468,920 (GRCm39) H895R probably benign Het
C1qtnf12 G A 4: 156,050,160 (GRCm39) probably null Het
Cars1 T C 7: 143,130,385 (GRCm39) I294V probably damaging Het
Ccdc142 G A 6: 83,084,462 (GRCm39) A527T probably damaging Het
Ccdc168 A T 1: 44,096,234 (GRCm39) N1621K possibly damaging Het
Ccdc92 T C 5: 124,913,242 (GRCm39) N96D probably benign Het
Ceacam18 T A 7: 43,288,880 (GRCm39) D210E probably benign Het
Cenpe A G 3: 134,952,257 (GRCm39) T1373A probably damaging Het
Cfap161 T G 7: 83,440,932 (GRCm39) probably null Het
Cimip4 T C 15: 78,270,588 (GRCm39) Y60C possibly damaging Het
Cldn19 A G 4: 119,112,990 (GRCm39) D74G probably benign Het
Clec12a A G 6: 129,330,762 (GRCm39) T115A probably damaging Het
Cox7a2l T A 17: 83,811,397 (GRCm39) Q78L probably benign Het
Crot T C 5: 9,019,080 (GRCm39) N491S probably benign Het
Cspg4b T A 13: 113,505,342 (GRCm39) L2157Q probably damaging Het
Ctr9 A G 7: 110,643,165 (GRCm39) probably null Het
Cyp4f14 T G 17: 33,130,209 (GRCm39) D190A probably damaging Het
D630039A03Rik C T 4: 57,910,240 (GRCm39) V191I probably benign Het
Dnah10 A T 5: 124,838,343 (GRCm39) N1124I probably benign Het
Duox1 T A 2: 122,177,861 (GRCm39) Y1548* probably null Het
Epdr1 G A 13: 19,778,773 (GRCm39) Q6* probably null Het
Erbin A G 13: 103,996,577 (GRCm39) probably null Het
Ero1a A T 14: 45,525,217 (GRCm39) I436K probably damaging Het
Exph5 A T 9: 53,287,941 (GRCm39) Q1674L possibly damaging Het
Fat4 A T 3: 39,037,607 (GRCm39) Y3753F probably damaging Het
Gaa T C 11: 119,174,098 (GRCm39) V763A probably damaging Het
Golim4 G A 3: 75,809,745 (GRCm39) T216I probably damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Gtf2f2 A G 14: 76,245,143 (GRCm39) probably null Het
Gtf3c5 T C 2: 28,469,694 (GRCm39) Y70C probably damaging Het
Hao1 T A 2: 134,372,584 (GRCm39) R141S probably benign Het
Hecw2 T C 1: 53,965,182 (GRCm39) D548G probably benign Het
Hr G A 14: 70,809,477 (GRCm39) probably null Het
Hrg A C 16: 22,774,853 (GRCm39) E161A probably damaging Het
Hydin A T 8: 111,237,526 (GRCm39) N1933I probably benign Het
Itpr2 A G 6: 146,229,830 (GRCm39) L1255P probably damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kif5c T C 2: 49,570,252 (GRCm39) probably null Het
Mgat5b C A 11: 116,868,614 (GRCm39) H512Q probably damaging Het
Mtmr4 T C 11: 87,502,943 (GRCm39) V999A probably benign Het
Mttp G T 3: 137,813,041 (GRCm39) Q545K probably damaging Het
Ncstn CAGCTCCACGAAG CAG 1: 171,899,038 (GRCm39) probably null Het
Nexn A G 3: 151,948,405 (GRCm39) I386T probably damaging Het
Nrip3 A G 7: 109,365,763 (GRCm39) S85P probably benign Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Olr1 T C 6: 129,465,895 (GRCm39) N37S possibly damaging Het
Or14j5 C T 17: 38,161,966 (GRCm39) A161V probably benign Het
Or4c105 A T 2: 88,648,402 (GRCm39) I296F probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or5p80 G T 7: 108,229,855 (GRCm39) V219F possibly damaging Het
Pax4 T C 6: 28,443,446 (GRCm39) Y290C probably benign Het
Pcdhb2 T A 18: 37,429,038 (GRCm39) V337D probably damaging Het
Pglyrp4 T C 3: 90,640,310 (GRCm39) Y187H probably damaging Het
Pi4ka A G 16: 17,098,614 (GRCm39) M2017T probably benign Het
Pkdrej T C 15: 85,703,483 (GRCm39) T818A possibly damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Pygm T C 19: 6,447,637 (GRCm39) I648T possibly damaging Het
Rab4a A T 8: 124,550,565 (GRCm39) K15I probably damaging Het
Rasa3 T C 8: 13,635,035 (GRCm39) E428G probably benign Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
Rpl3 C T 15: 79,964,591 (GRCm39) V222M possibly damaging Het
Rtl9 C T X: 141,886,011 (GRCm39) S1141F possibly damaging Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Sfswap C T 5: 129,590,148 (GRCm39) T215I probably damaging Het
Slit2 A G 5: 48,461,372 (GRCm39) D1456G probably damaging Het
Tex19.2 C T 11: 121,008,317 (GRCm39) V44I probably benign Het
Tmem127 G A 2: 127,098,094 (GRCm39) probably null Het
Tpd52 G T 3: 9,012,579 (GRCm39) N59K probably damaging Het
Trpc3 G A 3: 36,692,695 (GRCm39) P766S possibly damaging Het
Usp17la T A 7: 104,510,331 (GRCm39) V312D probably damaging Het
Xirp2 A G 2: 67,345,582 (GRCm39) N2608D possibly damaging Het
Zfp764l1 T A 7: 126,991,081 (GRCm39) H302L probably damaging Het
Zscan25 C A 5: 145,227,858 (GRCm39) H507Q possibly damaging 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
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
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'- AGACAACCACCATGATGTGAG -3'
(R):5'- ACAGTGATGGCTTATGACCGC -3'

Sequencing Primer
(F):5'- GAGGCACAGGTAGATAAAGCCTTG -3'
(R):5'- GCTATGTGGCCATCTGCAAAC -3'
Posted On 2014-06-23