Incidental Mutation 'R7075:Rbp4'
ID 549194
Institutional Source Beutler Lab
Gene Symbol Rbp4
Ensembl Gene ENSMUSG00000024990
Gene Name retinol binding protein 4, plasma
Synonyms Rbp-4, retinol binding protein 4, cellular
MMRRC Submission 045170-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7075 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 38105077-38113729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38112509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 152 (Y152C)
Ref Sequence ENSEMBL: ENSMUSP00000025951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025951] [ENSMUST00000112335]
AlphaFold Q00724
Predicted Effect probably damaging
Transcript: ENSMUST00000025951
AA Change: Y152C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025951
Gene: ENSMUSG00000024990
AA Change: Y152C

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: Y108C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107954
Gene: ENSMUSG00000024990
AA Change: Y108C

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (60/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp1 A T 12: 85,325,782 (GRCm39) H72Q unknown Het
Afmid T A 11: 117,726,531 (GRCm39) D218E probably benign Het
Ankhd1 T C 18: 36,693,042 (GRCm39) V1A Het
Atf7ip T C 6: 136,573,513 (GRCm39) probably null Het
BC024139 C T 15: 76,008,599 (GRCm39) V326I probably benign Het
Bfsp1 T A 2: 143,690,885 (GRCm39) Q159L probably damaging Het
Cct2 A T 10: 116,897,370 (GRCm39) W125R unknown Het
Cnksr3 G T 10: 7,102,931 (GRCm39) T147K probably benign Het
Colq C G 14: 31,274,866 (GRCm39) G101R probably damaging Het
Dlg5 G T 14: 24,227,865 (GRCm39) T352K possibly damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Ebna1bp2 T C 4: 118,479,299 (GRCm39) V119A probably benign Het
Eif2ak4 C T 2: 118,251,291 (GRCm39) Q318* probably null Het
Eif2b1 G A 5: 124,709,314 (GRCm39) T286M probably damaging Het
Fam53b G T 7: 132,361,352 (GRCm39) D225E probably damaging Het
Fh1 A G 1: 175,435,421 (GRCm39) I354T probably benign Het
Fnbp1 T C 2: 30,948,926 (GRCm39) H206R probably benign Het
Gabrg3 A T 7: 56,973,444 (GRCm39) D74E probably damaging Het
Galnt18 A T 7: 111,155,595 (GRCm39) V246E possibly damaging Het
Glt6d1 T C 2: 25,685,292 (GRCm39) R44G probably benign Het
Gm17087 T C 17: 8,785,635 (GRCm39) M23V probably benign Het
Gpr160 A T 3: 30,950,926 (GRCm39) I333L possibly damaging Het
Hars1 T C 18: 36,905,408 (GRCm39) N142S possibly damaging Het
Hmgcll1 T C 9: 75,963,834 (GRCm39) V97A possibly damaging Het
Itih4 T G 14: 30,614,560 (GRCm39) V474G probably damaging Het
Itprid2 T A 2: 79,466,004 (GRCm39) S41T probably damaging Het
Keap1 C T 9: 21,142,552 (GRCm39) V568I probably benign Het
Kifc5b A G 17: 27,144,872 (GRCm39) M633V probably benign Het
Lsm4 A G 8: 71,130,435 (GRCm39) E18G probably damaging Het
Meox1 T A 11: 101,784,569 (GRCm39) Q88L probably damaging Het
Mettl25 T C 10: 105,665,785 (GRCm39) N147S possibly damaging Het
Mphosph9 A C 5: 124,458,922 (GRCm39) W83G probably damaging Het
Or1j15 T C 2: 36,459,192 (GRCm39) I194T probably benign Het
Or5ak22 T C 2: 85,230,544 (GRCm39) D111G probably damaging Het
Or7e170 T A 9: 19,795,359 (GRCm39) M81L probably benign Het
Or8b4 T C 9: 37,830,370 (GRCm39) V139A probably benign Het
Or8h8 T G 2: 86,752,990 (GRCm39) K295N possibly damaging Het
Or9g4 T A 2: 85,505,168 (GRCm39) Y109F Het
Otogl G T 10: 107,614,790 (GRCm39) T1954K probably benign Het
Padi2 T C 4: 140,660,528 (GRCm39) V336A probably damaging Het
Phf21a C T 2: 92,190,724 (GRCm39) Q675* probably null Het
Ppip5k1 T C 2: 121,152,231 (GRCm39) E1092G probably damaging Het
Psg21 T C 7: 18,388,786 (GRCm39) N102S probably damaging Het
Ralgapa1 C A 12: 55,867,508 (GRCm39) Q15H possibly damaging Het
Rbm26 A T 14: 105,398,043 (GRCm39) D26E unknown Het
Recql4 A G 15: 76,590,624 (GRCm39) V646A possibly damaging Het
Rnf220 A T 4: 117,143,079 (GRCm39) M63K probably benign Het
Selenok T C 14: 29,692,024 (GRCm39) S21P probably damaging Het
Senp1 A G 15: 97,956,207 (GRCm39) V404A probably benign Het
Sh3yl1 A G 12: 30,990,165 (GRCm39) probably null Het
Snx32 A G 19: 5,547,018 (GRCm39) L275P probably damaging Het
Stat5a T C 11: 100,770,519 (GRCm39) V519A possibly damaging Het
Tbc1d10b A T 7: 126,802,410 (GRCm39) V388E possibly damaging Het
Tdrd6 A G 17: 43,936,065 (GRCm39) V1661A probably benign Het
Tmem63a T A 1: 180,788,714 (GRCm39) F350L probably damaging Het
Trio A T 15: 27,898,086 (GRCm39) I401K unknown Het
Ttn T C 2: 76,547,173 (GRCm39) E32291G probably damaging Het
Tubgcp5 G T 7: 55,479,155 (GRCm39) V1002L probably benign Het
Vav3 C T 3: 109,433,240 (GRCm39) T410I possibly damaging Het
Vmn1r1 A T 1: 181,985,597 (GRCm39) F23I probably benign Het
Vmn2r84 T A 10: 130,226,941 (GRCm39) Q299L probably damaging Het
Vmn2r85 T A 10: 130,258,557 (GRCm39) E499D probably benign 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
IGL02326:Rbp4 APN 19 38,112,563 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- TAGGCTGAGAATCCAGTCGC -3'
(R):5'- AGTCCGTCTTCTGAGGTCAG -3'

Sequencing Primer
(F):5'- GCTGAGAATCCAGTCGCTTCTAATC -3'
(R):5'- TGTGCGGCGTTCCAAAG -3'
Posted On 2019-05-15