Incidental Mutation 'IGL01868:Rbp4'
ID178605
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbp4
Ensembl Gene ENSMUSG00000024990
Gene Nameretinol binding protein 4, plasma
Synonymsretinol binding protein 4, cellular, Rbp-4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01868
Quality Score
Status
Chromosome19
Chromosomal Location38116620-38125321 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 38124520 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 37 (R37L)
Ref Sequence ENSEMBL: ENSMUSP00000107954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025951] [ENSMUST00000112335]
Predicted Effect probably damaging
Transcript: ENSMUST00000025951
AA Change: R81L

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025951
Gene: ENSMUSG00000024990
AA Change: R81L

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: R37L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107954
Gene: ENSMUSG00000024990
AA Change: R37L

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,414,148 T569M possibly damaging Het
Aldh1l1 A T 6: 90,583,230 K620* probably null Het
Amdhd2 G T 17: 24,157,530 T346K probably damaging Het
Arhgap44 T C 11: 65,012,078 D521G probably damaging Het
Ccdc146 C A 5: 21,333,054 A91S probably damaging Het
Ccdc187 C A 2: 26,280,948 R506L probably benign Het
Cd37 T C 7: 45,236,179 Q128R probably benign Het
Cdh22 T A 2: 165,157,358 M185L probably damaging Het
Cib2 A T 9: 54,548,475 N68K probably damaging Het
Ddx46 C T 13: 55,639,870 R96* probably null Het
Dnajc13 A T 9: 104,162,745 H2050Q possibly damaging Het
Duox1 A G 2: 122,338,407 H1172R probably benign Het
Eftud2 C T 11: 102,869,127 V132I probably benign Het
Fcrl5 G A 3: 87,443,707 D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14548 G A 7: 3,897,175 Q143* probably null Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Kat6a T C 8: 22,926,455 F660L probably damaging Het
Lipo2 T C 19: 33,730,838 M259V probably benign Het
Lrrcc1 T A 3: 14,554,357 L90* probably null Het
Lsm1 G A 8: 25,793,793 probably null Het
Luzp1 T C 4: 136,542,737 I757T probably damaging Het
Micall1 A G 15: 79,115,060 I76V probably benign Het
Mmp21 A T 7: 133,675,914 D394E probably damaging Het
Mtfr1l T C 4: 134,530,707 D68G probably null Het
Necab2 A G 8: 119,462,576 S162G probably benign Het
Olfr1186 T C 2: 88,525,715 V44A possibly damaging Het
Olfr429 C T 1: 174,089,370 T110I possibly damaging Het
Olfr64 G A 7: 103,893,376 R120* probably null Het
Olfr96 A T 17: 37,225,152 Q9L probably benign Het
Pde7b A T 10: 20,407,165 C376* probably null Het
Plcb2 A G 2: 118,709,590 L1074P probably damaging Het
Plcb2 G T 2: 118,711,387 T914N probably benign Het
Prph C A 15: 99,056,343 D207E probably damaging Het
Prrxl1 C A 14: 32,608,377 F150L probably damaging Het
Ryr3 T C 2: 112,803,158 probably benign Het
Sardh T G 2: 27,227,147 Q496P probably benign Het
Serpina1f T A 12: 103,693,445 N193Y probably benign Het
Slc10a7 G A 8: 78,697,336 probably null Het
Spg7 T C 8: 123,090,236 probably null Het
Sphkap T C 1: 83,280,399 probably null Het
Tas2r121 T A 6: 132,700,272 I246L probably benign Het
Tbc1d9b T C 11: 50,161,633 F889S probably damaging Het
Tcp10a T C 17: 7,329,864 M140T possibly damaging Het
Tctn2 G A 5: 124,616,528 noncoding transcript Het
Tfap2b G T 1: 19,214,282 R138L probably damaging Het
Tnrc18 T C 5: 142,771,812 T985A unknown Het
Treml1 G A 17: 48,366,007 V211I probably benign Het
Ubr4 C T 4: 139,412,678 Q1191* probably null Het
Vim G A 2: 13,578,438 R217H possibly damaging Het
Vmn2r77 A G 7: 86,803,016 D468G probably benign Het
Vmn2r98 G T 17: 19,066,286 V349F probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vwa7 A T 17: 35,021,259 E401V probably null Het
Zfp119b C A 17: 55,939,866 V75L possibly damaging Het
Zfp287 C T 11: 62,715,257 E275K probably benign Het
Other mutations in Rbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Rbp4 APN 19 38124052 missense probably benign 0.00
IGL02326:Rbp4 APN 19 38124115 missense probably damaging 0.96
IGL02828:Rbp4 APN 19 38118269 splice site probably null
R0666:Rbp4 UTSW 19 38118460 missense probably damaging 1.00
R2422:Rbp4 UTSW 19 38124344 missense probably damaging 0.96
R6253:Rbp4 UTSW 19 38124980 missense probably benign 0.05
R7075:Rbp4 UTSW 19 38124061 missense not run
Posted On2014-05-07