Incidental Mutation 'R5521:Or4d2b'
ID 431567
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 043080-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.854) question?
Stock # R5521 (G1)
Quality Score 220
Status Validated
Chromosome 11
Chromosomal Location 87779785-87780720 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87780545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 59 (M59K)
Ref Sequence ENSEMBL: ENSMUSP00000150179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049743] [ENSMUST00000081417] [ENSMUST00000213672] [ENSMUST00000213928] [ENSMUST00000215150] [ENSMUST00000217095]
AlphaFold Q5SW50
Predicted Effect probably damaging
Transcript: ENSMUST00000049743
AA Change: M59K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000055334
Gene: ENSMUSG00000093839
AA Change: M59K

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 damaging
Transcript: ENSMUST00000213672
AA Change: M59K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000213928
AA Change: M59K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000215150
Predicted Effect probably benign
Transcript: ENSMUST00000217095
Meta Mutation Damage Score 0.5741 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.5%
  • 10x: 94.4%
  • 20x: 87.5%
Validation Efficiency 94% (72/77)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,190,980 (GRCm39) probably benign Het
Abhd14a G T 9: 106,321,033 (GRCm39) D107E probably damaging Het
Acat1 T A 9: 53,494,807 (GRCm39) K362* probably null Het
Adad2 T A 8: 120,339,528 (GRCm39) S3R probably benign Het
Adcy8 C A 15: 64,687,199 (GRCm39) R435M probably damaging Het
Adgrv1 A T 13: 81,567,508 (GRCm39) S5222T probably benign Het
Ankk1 A T 9: 49,331,748 (GRCm39) M182K probably benign Het
Apba1 C T 19: 23,870,957 (GRCm39) P263L probably damaging Het
Arhgap39 G A 15: 76,649,694 (GRCm39) S26L possibly damaging Het
Ccng1 G A 11: 40,643,093 (GRCm39) T118I possibly damaging Het
Cenpe T C 3: 134,974,826 (GRCm39) S2329P probably damaging Het
Chil4 A G 3: 106,111,013 (GRCm39) Y294H possibly damaging Het
Chst8 A C 7: 34,374,670 (GRCm39) S390A probably benign Het
Dars1 T C 1: 128,301,710 (GRCm39) D308G probably benign Het
Dlec1 A C 9: 118,972,469 (GRCm39) Q1458P possibly damaging Het
Dvl2 G A 11: 69,897,233 (GRCm39) E312K probably damaging Het
Fchsd1 T C 18: 38,099,537 (GRCm39) H219R probably damaging Het
Foxd4 A C 19: 24,877,007 (GRCm39) C398G probably damaging Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Gm5414 T C 15: 101,536,422 (GRCm39) I68V probably benign Het
Gmip C T 8: 70,270,049 (GRCm39) T684I probably damaging Het
Gpr137c T C 14: 45,516,151 (GRCm39) I295T possibly damaging Het
Hivep1 T A 13: 42,311,804 (GRCm39) M1348K probably damaging Het
Igkv6-23 T C 6: 70,237,597 (GRCm39) D48G probably benign Het
Il3 G A 11: 54,157,958 (GRCm39) T40M possibly damaging Het
Ing2 T C 8: 48,122,248 (GRCm39) E100G probably damaging Het
Itpr3 C A 17: 27,326,308 (GRCm39) H1359Q probably benign Het
Lama1 T A 17: 68,087,889 (GRCm39) Y1502* probably null Het
Mamdc2 C A 19: 23,288,302 (GRCm39) G579W probably damaging Het
Mapk6 G A 9: 75,300,598 (GRCm39) probably benign Het
Mapk8ip2 C T 15: 89,343,007 (GRCm39) R616W probably damaging Het
Mc5r T A 18: 68,472,748 (GRCm39) L369H possibly damaging Het
Meis1 T C 11: 18,938,260 (GRCm39) probably benign Het
Mmp8 A G 9: 7,560,644 (GRCm39) K107R probably benign Het
Mn1 C T 5: 111,569,635 (GRCm39) H1202Y possibly damaging Het
Naip2 A G 13: 100,291,422 (GRCm39) L1172P probably damaging Het
Nek9 C T 12: 85,374,219 (GRCm39) D273N probably benign Het
Nlrp4e A T 7: 23,021,190 (GRCm39) D559V probably benign Het
Nlrp4g T C 9: 124,350,020 (GRCm38) noncoding transcript Het
Oit3 G T 10: 59,271,736 (GRCm39) A207E probably benign Het
Or13j1 A T 4: 43,705,788 (GRCm39) M260K possibly damaging Het
Or14a257 A T 7: 86,137,839 (GRCm39) C307S probably benign Het
Or5w16 A G 2: 87,577,406 (GRCm39) I289V probably benign Het
Pde4c T C 8: 71,200,031 (GRCm39) probably null Het
Ppp1r26 A G 2: 28,341,438 (GRCm39) E356G probably benign Het
Pramel13 A G 4: 144,122,541 (GRCm39) M1T probably null Het
Ptges3-ps T A 6: 85,821,303 (GRCm39) noncoding transcript Het
Ptpn13 T G 5: 103,649,294 (GRCm39) F232L probably benign Het
Reps1 T C 10: 17,979,982 (GRCm39) S114P probably damaging Het
Scarf2 T A 16: 17,621,466 (GRCm39) probably null Het
Sdha A T 13: 74,498,218 (GRCm39) probably benign Het
Secisbp2l A T 2: 125,594,897 (GRCm39) V146D possibly damaging Het
Slc26a8 T A 17: 28,873,833 (GRCm39) T385S probably benign Het
Slc4a1 G A 11: 102,244,092 (GRCm39) T679M probably benign Het
Tbc1d14 T A 5: 36,677,896 (GRCm39) E353V probably damaging Het
Thap2 T A 10: 115,208,665 (GRCm39) K152* probably null Het
Thbd A T 2: 148,249,655 (GRCm39) I71N probably damaging Het
V1ra8 T A 6: 90,180,036 (GRCm39) W80R probably damaging Het
Vmn1r218 A G 13: 23,320,743 (GRCm39) Y30C probably benign Het
Vmn2r60 C A 7: 41,845,049 (GRCm39) T804K probably damaging Het
Vmn2r68 A T 7: 84,882,926 (GRCm39) D275E probably benign Het
Vps13c A G 9: 67,858,721 (GRCm39) I2724V probably benign Het
Xrcc5 C A 1: 72,385,430 (GRCm39) P507Q probably damaging Het
Zfp120 A T 2: 149,959,499 (GRCm39) Y274* probably null Het
Zfp780b C A 7: 27,674,173 (GRCm39) probably null 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
R6967:Or4d2b UTSW 11 87,780,324 (GRCm39) missense probably benign 0.02
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'- CATAGGCCATCACTGACAGG -3'
(R):5'- TCAGTCAGCCACATCCTTTAGG -3'

Sequencing Primer
(F):5'- GGAAGAAGACCATGGCCCCTC -3'
(R):5'- CCACATCCTTTAGGTTCATGCAGAAG -3'
Posted On 2016-10-05