Incidental Mutation 'IGL02326:Rbp4'
ID 288467
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbp4
Ensembl Gene ENSMUSG00000024990
Gene Name retinol binding protein 4, plasma
Synonyms Rbp-4, retinol binding protein 4, cellular
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02326
Quality Score
Status
Chromosome 19
Chromosomal Location 38105077-38113729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38112563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 90 (D90G)
Ref Sequence ENSEMBL: ENSMUSP00000107954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025951] [ENSMUST00000112335]
AlphaFold Q00724
Predicted Effect possibly damaging
Transcript: ENSMUST00000025951
AA Change: D134G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025951
Gene: ENSMUSG00000024990
AA Change: D134G

DomainStartEndE-ValueType
low complexity region 47 60 N/A INTRINSIC
Pfam:Lipocalin_2 77 229 8.2e-9 PFAM
Pfam:Lipocalin 83 229 8.3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112335
AA Change: D90G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107954
Gene: ENSMUSG00000024990
AA Change: D90G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Lipocalin_2 33 186 3.6e-9 PFAM
Pfam:Lipocalin 39 185 6.5e-21 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show abnormal retinal function and retinol level, delayed heart trabeculation, and increased myocyte proliferation and fibronectin deposition in cardiac jelly and nascent valves. Homozygotes for another null allele show testicular defects on a vitamin A-deficient diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik T C 3: 121,465,051 (GRCm39) V29A unknown Het
Abcc8 C A 7: 45,772,281 (GRCm39) probably null Het
Ankar A T 1: 72,705,514 (GRCm39) I614N probably damaging Het
Ash1l G A 3: 88,873,364 (GRCm39) R49H probably benign Het
Atp8b1 T C 18: 64,671,654 (GRCm39) H1123R probably damaging Het
Casp12 T C 9: 5,358,317 (GRCm39) Y375H possibly damaging Het
Cbl A G 9: 44,062,770 (GRCm39) I861T possibly damaging Het
Cdh20 T C 1: 104,902,764 (GRCm39) L485P probably damaging Het
Cobl A T 11: 12,336,712 (GRCm39) N25K possibly damaging Het
Col14a1 T C 15: 55,282,193 (GRCm39) V818A unknown Het
Csmd3 G A 15: 47,619,359 (GRCm39) probably benign Het
Dpp6 A G 5: 27,869,755 (GRCm39) Y509C probably damaging Het
Fabp2 C T 3: 122,692,395 (GRCm39) R96C probably damaging Het
Fam53a T C 5: 33,757,938 (GRCm39) D395G probably damaging Het
Gabrb1 T A 5: 71,858,190 (GRCm39) I72K probably damaging Het
Hmcn2 G A 2: 31,340,964 (GRCm39) S4479N probably damaging Het
Hrnr C T 3: 93,231,052 (GRCm39) T430I unknown Het
Ighv1-53 T A 12: 115,122,235 (GRCm39) T47S probably benign Het
Ilk C A 7: 105,390,840 (GRCm39) P261Q probably damaging Het
Ints10 T G 8: 69,257,485 (GRCm39) D228E probably damaging Het
Kcnq5 A T 1: 21,472,816 (GRCm39) S782R probably benign Het
Map3k4 A G 17: 12,467,897 (GRCm39) S1046P probably damaging Het
Musk C T 4: 58,354,113 (GRCm39) P374S probably benign Het
Or52e18 T A 7: 104,609,853 (GRCm39) I29F probably benign Het
Or5b108 C A 19: 13,168,779 (GRCm39) Y249* probably null Het
Or5j1 G A 2: 86,879,355 (GRCm39) S75L possibly damaging Het
Or5w19 T A 2: 87,699,019 (GRCm39) I228N probably damaging Het
Pkd2 T C 5: 104,624,941 (GRCm39) Y246H probably benign Het
Plekha5 G T 6: 140,529,576 (GRCm39) G340* probably null Het
Plxna4 T A 6: 32,129,840 (GRCm39) M1828L probably damaging Het
Prex1 A G 2: 166,463,105 (GRCm39) I252T probably benign Het
Pura A G 18: 36,420,831 (GRCm39) D206G probably damaging Het
Rad54b T A 4: 11,612,713 (GRCm39) F782I probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Scn7a C A 2: 66,530,392 (GRCm39) R651L probably benign Het
Sh2d3c A T 2: 32,639,163 (GRCm39) probably null Het
Slc43a1 T G 2: 84,680,115 (GRCm39) L87R probably damaging Het
Sppl2c A G 11: 104,078,099 (GRCm39) T300A probably benign Het
Srgap2 T A 1: 131,284,645 (GRCm39) probably null Het
Tkt G A 14: 30,294,182 (GRCm39) V531M probably damaging Het
Twsg1 T C 17: 66,233,431 (GRCm39) D173G possibly damaging Het
Ugt2b37 G T 5: 87,388,861 (GRCm39) H451N probably benign Het
Ugt2b38 C T 5: 87,571,592 (GRCm39) D147N probably damaging Het
Vmn1r15 T C 6: 57,235,255 (GRCm39) I41T probably benign Het
Vwa5a A T 9: 38,649,252 (GRCm39) T667S probably benign Het
Xrn2 A G 2: 146,889,633 (GRCm39) E672G probably benign Het
Zfp235 T A 7: 23,834,727 (GRCm39) M1K probably null Het
Zmym1 T C 4: 126,941,553 (GRCm39) E847G probably damaging Het
Other mutations in Rbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Rbp4 APN 19 38,112,500 (GRCm39) missense probably benign 0.00
IGL01868:Rbp4 APN 19 38,112,968 (GRCm39) missense probably damaging 0.98
IGL02828:Rbp4 APN 19 38,106,717 (GRCm39) splice site probably null
R0666:Rbp4 UTSW 19 38,106,908 (GRCm39) missense probably damaging 1.00
R2422:Rbp4 UTSW 19 38,112,792 (GRCm39) missense probably damaging 0.96
R6253:Rbp4 UTSW 19 38,113,428 (GRCm39) missense probably benign 0.05
R7075:Rbp4 UTSW 19 38,112,509 (GRCm39) missense probably damaging 1.00
R7204:Rbp4 UTSW 19 38,112,551 (GRCm39) missense possibly damaging 0.88
R7366:Rbp4 UTSW 19 38,113,410 (GRCm39) missense possibly damaging 0.76
R7863:Rbp4 UTSW 19 38,112,546 (GRCm39) missense possibly damaging 0.49
Posted On 2015-04-16