Incidental Mutation 'R6967:Or4d2b'
ID 542068
Institutional Source Beutler Lab
Gene Symbol Or4d2b
Ensembl Gene ENSMUSG00000093839
Gene Name olfactory receptor family 4 subfamily D member 2B
Synonyms GA_x6K02T2PAEV-9536824-9535889, Olfr462, MOR240-3
MMRRC Submission 045077-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R6967 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 87779785-87780720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87780324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 133 (V133I)
Ref Sequence ENSEMBL: ENSMUSP00000150179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049743] [ENSMUST00000081417] [ENSMUST00000213672] [ENSMUST00000213928] [ENSMUST00000215150] [ENSMUST00000217095]
AlphaFold Q5SW50
Predicted Effect probably benign
Transcript: ENSMUST00000049743
AA Change: V133I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000055334
Gene: ENSMUSG00000093839
AA Change: V133I

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 1.2e-40 PFAM
Pfam:7tm_1 41 287 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081417
SMART Domains Protein: ENSMUSP00000080146
Gene: ENSMUSG00000093920

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 6.3e-41 PFAM
Pfam:7tm_1 41 287 8.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213672
AA Change: V133I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000213928
AA Change: V133I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000215150
Predicted Effect probably benign
Transcript: ENSMUST00000217095
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (56/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik A G 7: 103,708,212 (GRCm39) I199T probably benign Het
Adam23 T G 1: 63,602,495 (GRCm39) probably null Het
Adamts8 C T 9: 30,865,787 (GRCm39) T445I probably benign Het
Ahi1 T C 10: 20,864,524 (GRCm39) V752A probably damaging Het
Arfgef1 T C 1: 10,223,903 (GRCm39) Q1465R probably damaging Het
Arfgef1 G T 1: 10,223,904 (GRCm39) Q1465K probably damaging Het
Bicra T C 7: 15,706,130 (GRCm39) E1437G probably damaging Het
Cdc42ep4 C T 11: 113,619,998 (GRCm39) S131N possibly damaging Het
Ces1f G A 8: 93,994,625 (GRCm39) P262L probably benign Het
Chrna2 A T 14: 66,388,398 (GRCm39) probably null Het
Cspg4 G A 9: 56,797,420 (GRCm39) V1295M possibly damaging Het
D5Ertd579e T C 5: 36,773,100 (GRCm39) T432A probably benign Het
Dach1 A T 14: 98,140,633 (GRCm39) S456R probably damaging Het
Dhx37 T C 5: 125,499,231 (GRCm39) D659G probably benign Het
Dscaml1 T C 9: 45,585,821 (GRCm39) V586A probably damaging Het
Efhb G T 17: 53,770,196 (GRCm39) L38I probably benign Het
Fbxw10 T C 11: 62,738,429 (GRCm39) S108P possibly damaging Het
Fmnl2 A G 2: 52,987,344 (GRCm39) N313S possibly damaging Het
Gga3 T C 11: 115,482,102 (GRCm39) E172G probably damaging Het
Ggta1 A G 2: 35,292,734 (GRCm39) V191A possibly damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Hcn4 C T 9: 58,731,228 (GRCm39) T145M unknown Het
Kirrel3 T C 9: 34,946,202 (GRCm39) S654P probably damaging Het
Klrb1 A T 6: 128,687,486 (GRCm39) probably null Het
Krt15 T A 11: 100,025,339 (GRCm39) D166V probably damaging Het
Lipk T A 19: 34,017,794 (GRCm39) Y277* probably null Het
Ly6g A C 15: 75,030,398 (GRCm39) N49T possibly damaging Het
Ms4a4c A T 19: 11,392,191 (GRCm39) Q4L probably benign Het
Nfya A C 17: 48,699,932 (GRCm39) probably benign Het
Nub1 T C 5: 24,913,709 (GRCm39) V530A probably benign Het
Ocln A T 13: 100,675,796 (GRCm39) Y232* probably null Het
Or10ag59 A G 2: 87,405,857 (GRCm39) N143S possibly damaging Het
Or2r2 A G 6: 42,463,947 (GRCm39) F60S probably damaging Het
Or5b114-ps1 A G 19: 13,352,815 (GRCm39) H163R unknown Het
Otogl G A 10: 107,649,911 (GRCm39) A1148V probably benign Het
Paqr5 C T 9: 61,880,113 (GRCm39) W46* probably null Het
Psd2 C A 18: 36,113,385 (GRCm39) L286M probably damaging Het
Ptpn4 A T 1: 119,612,311 (GRCm39) Y27* probably null Het
Ripk2 A G 4: 16,158,275 (GRCm39) probably null Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sbk2 C T 7: 4,967,146 (GRCm39) probably null Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Sspo A C 6: 48,466,728 (GRCm39) D4072A probably benign Het
St6galnac3 T C 3: 152,912,345 (GRCm39) Y214C probably damaging Het
Sugp1 T A 8: 70,513,202 (GRCm39) D256E possibly damaging Het
Sugt1 A G 14: 79,834,847 (GRCm39) Y90C probably benign Het
Taok2 A G 7: 126,469,564 (GRCm39) I1088T probably damaging Het
Tasor2 A T 13: 3,624,819 (GRCm39) D1710E probably benign Het
Tmc7 T A 7: 118,146,901 (GRCm39) T459S probably benign Het
Tmed11 T C 5: 108,926,780 (GRCm39) Y164C probably damaging Het
Tmem275 A G 4: 115,755,491 (GRCm39) T97A unknown Het
Tmem63b T C 17: 45,977,558 (GRCm39) E356G probably benign Het
Ttc13 T C 8: 125,415,357 (GRCm39) I261V probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn1r73 A T 7: 11,490,544 (GRCm39) K121* probably null Het
Zc3h12d A T 10: 7,715,644 (GRCm39) S16C probably damaging Het
Zfp292 A T 4: 34,807,812 (GRCm39) M1744K probably damaging Het
Other mutations in Or4d2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0613:Or4d2b UTSW 11 87,780,053 (GRCm39) missense possibly damaging 0.90
R1116:Or4d2b UTSW 11 87,780,234 (GRCm39) missense probably benign 0.00
R1371:Or4d2b UTSW 11 87,780,122 (GRCm39) missense probably damaging 1.00
R1415:Or4d2b UTSW 11 87,780,473 (GRCm39) missense possibly damaging 0.91
R1444:Or4d2b UTSW 11 87,780,585 (GRCm39) missense probably benign 0.00
R4591:Or4d2b UTSW 11 87,780,375 (GRCm39) missense probably benign 0.35
R4860:Or4d2b UTSW 11 87,780,051 (GRCm39) missense probably damaging 1.00
R4860:Or4d2b UTSW 11 87,780,051 (GRCm39) missense probably damaging 1.00
R5019:Or4d2b UTSW 11 87,779,801 (GRCm39) missense probably benign
R5521:Or4d2b UTSW 11 87,780,545 (GRCm39) missense probably damaging 0.99
R7186:Or4d2b UTSW 11 87,780,591 (GRCm39) missense possibly damaging 0.69
R8025:Or4d2b UTSW 11 87,779,777 (GRCm39) critical splice donor site probably null
R8245:Or4d2b UTSW 11 87,780,443 (GRCm39) missense probably damaging 1.00
R8918:Or4d2b UTSW 11 87,780,284 (GRCm39) missense probably benign 0.01
R9141:Or4d2b UTSW 11 87,780,056 (GRCm39) missense probably damaging 1.00
R9426:Or4d2b UTSW 11 87,780,056 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCAGCATCCCACTGTTGG -3'
(R):5'- CTGGCTGTCTTAGACCTCTG -3'

Sequencing Primer
(F):5'- CACTGTTGGAGATCATGAGGAAC -3'
(R):5'- AGACCTCTGCTTCTCCTCAG -3'
Posted On 2018-11-28