Incidental Mutation 'R7204:Rbp4'
ID 560484
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 045282-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7204 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 38105077-38113729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38112551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 138 (T138I)
Ref Sequence ENSEMBL: ENSMUSP00000025951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025951] [ENSMUST00000112335]
AlphaFold Q00724
Predicted Effect possibly damaging
Transcript: ENSMUST00000025951
AA Change: T138I

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025951
Gene: ENSMUSG00000024990
AA Change: T138I

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 possibly damaging
Transcript: ENSMUST00000112335
AA Change: T94I

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107954
Gene: ENSMUSG00000024990
AA Change: T94I

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: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (75/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,730,636 (GRCm39) S227P probably damaging Het
Acot6 A G 12: 84,153,301 (GRCm39) H181R probably benign Het
Adam15 A T 3: 89,254,244 (GRCm39) H184Q probably benign Het
Agl A G 3: 116,587,469 (GRCm39) F29L probably benign Het
Ak7 A G 12: 105,708,502 (GRCm39) Y319C probably benign Het
Ano8 C A 8: 71,931,669 (GRCm39) V813L probably benign Het
Apbb2 T G 5: 66,608,946 (GRCm39) K234Q probably damaging Het
Arfgef3 A T 10: 18,522,210 (GRCm39) D605E probably damaging Het
Bfsp2 C A 9: 103,309,865 (GRCm39) R340L probably damaging Het
Birc6 C A 17: 74,947,103 (GRCm39) P2956T probably damaging Het
C1rb T C 6: 124,554,386 (GRCm39) I389T probably benign Het
Ccdc146 A G 5: 21,513,624 (GRCm39) F498S probably benign Het
Cdc14b A C 13: 64,358,012 (GRCm39) V361G possibly damaging Het
Cdc25b A T 2: 131,033,552 (GRCm39) I164F probably damaging Het
Col18a1 A G 10: 76,921,110 (GRCm39) S297P unknown Het
Col3a1 A T 1: 45,361,578 (GRCm39) I117F unknown Het
Cox4i2 AG A 2: 152,602,618 (GRCm39) probably null Het
Crybg3 C A 16: 59,379,253 (GRCm39) G667V probably benign Het
Ctc1 A G 11: 68,920,567 (GRCm39) D623G probably damaging Het
Dennd1a A T 2: 37,929,215 (GRCm39) H152Q probably damaging Het
Dgke G A 11: 88,932,306 (GRCm39) P495S probably damaging Het
Dll3 A T 7: 27,998,330 (GRCm39) C212S possibly damaging Het
Dll4 A T 2: 119,159,054 (GRCm39) S235C probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah12 A T 14: 26,503,442 (GRCm39) T1599S probably damaging Het
Elavl1 G A 8: 4,361,712 (GRCm39) T20M probably damaging Het
Epha3 T C 16: 63,472,695 (GRCm39) T397A probably benign Het
Fanca A T 8: 124,013,216 (GRCm39) I859N probably damaging Het
Fzd1 A T 5: 4,805,980 (GRCm39) V534D probably damaging Het
Glmp A G 3: 88,233,917 (GRCm39) Y258C probably damaging Het
Gm9195 G A 14: 72,711,626 (GRCm39) P329S probably damaging Het
Gpt A G 15: 76,583,199 (GRCm39) R379G probably benign Het
Gsdmc2 T C 15: 63,696,903 (GRCm39) T423A probably damaging Het
Hemgn T C 4: 46,397,054 (GRCm39) K61E possibly damaging Het
Ikzf4 A T 10: 128,479,759 (GRCm39) S56T possibly damaging Het
Jak1 T C 4: 101,032,332 (GRCm39) T425A probably benign Het
Jsrp1 T C 10: 80,646,319 (GRCm39) T80A probably benign Het
Klra9 T A 6: 130,165,643 (GRCm39) D124V possibly damaging Het
Lama5 A T 2: 179,843,970 (GRCm39) V397D probably damaging Het
Lrp2 A G 2: 69,302,877 (GRCm39) S2951P probably benign Het
Map7d1 A G 4: 126,149,808 (GRCm39) probably null Het
Mcm6 A T 1: 128,265,864 (GRCm39) C636S probably damaging Het
Mia T C 7: 26,880,358 (GRCm39) E39G possibly damaging Het
Mpeg1 T A 19: 12,440,258 (GRCm39) I572N probably damaging Het
Muc21 AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC AGCTGGATACAGTGGTGGTC 17: 35,932,105 (GRCm39) probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Mup5 A G 4: 61,751,992 (GRCm39) Y86H probably damaging Het
Nckap5 A T 1: 125,954,104 (GRCm39) V816D probably benign Het
Nfib T C 4: 82,215,052 (GRCm39) probably null Het
Nlrc5 T A 8: 95,218,153 (GRCm39) V1056D possibly damaging Het
Nynrin G C 14: 56,110,190 (GRCm39) E1766Q probably damaging Het
Or7d9 A T 9: 20,197,100 (GRCm39) Y43F probably benign Het
Oxct1 T A 15: 4,123,524 (GRCm39) L328Q probably damaging Het
Pax5 T A 4: 44,679,485 (GRCm39) I187F possibly damaging Het
Pcdhb4 A T 18: 37,442,292 (GRCm39) D534V probably damaging Het
Pebp4 C T 14: 70,085,046 (GRCm39) P35S probably benign Het
Pkhd1l1 T A 15: 44,386,949 (GRCm39) V1274E possibly damaging Het
Plcz1 A T 6: 139,956,150 (GRCm39) V373D probably benign Het
Plxnb1 C T 9: 108,929,243 (GRCm39) T33I probably damaging Het
Prag1 T C 8: 36,613,915 (GRCm39) C1156R probably benign Het
Ptprc T A 1: 138,045,600 (GRCm39) I87F probably benign Het
Semp2l2b A G 10: 21,943,785 (GRCm39) L65P probably damaging Het
Slc12a1 A T 2: 125,042,542 (GRCm39) N733Y possibly damaging Het
Slc27a3 A G 3: 90,297,033 (GRCm39) V22A probably benign Het
Tcaf1 T C 6: 42,651,973 (GRCm39) probably null Het
Tnc T C 4: 63,889,392 (GRCm39) probably null Het
Tspan31 A T 10: 126,903,987 (GRCm39) *211R probably null Het
Ttc17 A T 2: 94,192,773 (GRCm39) V86D possibly damaging Het
Ubr1 T A 2: 120,734,558 (GRCm39) N1114I possibly damaging Het
Ulk2 C T 11: 61,674,457 (GRCm39) G850R probably benign Het
Vmn1r13 T A 6: 57,187,141 (GRCm39) I100N probably benign Het
Zan T C 5: 137,426,240 (GRCm39) D2512G unknown Het
Zc3h14 A T 12: 98,737,615 (GRCm39) N34I probably damaging Het
Zcwpw1 T G 5: 137,810,346 (GRCm39) L374R probably damaging Het
Zfp747l1 A T 7: 126,983,518 (GRCm39) I528K possibly 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
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
R7075:Rbp4 UTSW 19 38,112,509 (GRCm39) missense probably damaging 1.00
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'- GAATCCAGTCGCTTCTAATCCC -3'
(R):5'- AGTCCGTCTTCTGAGGTCAG -3'

Sequencing Primer
(F):5'- ATCCCCTAAATTCAGACAGGGCTG -3'
(R):5'- CTTCTGAGGTCAGTGGCCTC -3'
Posted On 2019-06-26