Incidental Mutation 'R6253:Rbp4'
ID 506365
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 044370-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6253 (G1)
Quality Score 108.008
Status Not validated
Chromosome 19
Chromosomal Location 38105077-38113729 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38113428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 30 (T30M)
Ref Sequence ENSEMBL: ENSMUSP00000025951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025951] [ENSMUST00000112335]
AlphaFold Q00724
Predicted Effect probably benign
Transcript: ENSMUST00000025951
AA Change: T30M

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000025951
Gene: ENSMUSG00000024990
AA Change: T30M

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 benign
Transcript: ENSMUST00000112335
SMART Domains Protein: ENSMUSP00000107954
Gene: ENSMUSG00000024990

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,528,929 (GRCm39) Y151H possibly damaging Het
Aasdh A G 5: 77,034,105 (GRCm39) I482T possibly damaging Het
Abca3 G A 17: 24,616,526 (GRCm39) M989I probably benign Het
Acvr2b C T 9: 119,257,627 (GRCm39) P220L probably damaging Het
Aqr T C 2: 113,986,758 (GRCm39) D204G possibly damaging Het
Arpp19 G T 9: 74,964,016 (GRCm39) D123Y probably damaging Het
Bod1l A G 5: 41,983,881 (GRCm39) I554T probably damaging Het
Bpifa5 A G 2: 154,005,420 (GRCm39) M1V probably null Het
Cdh3 T A 8: 107,263,695 (GRCm39) probably null Het
Cep170 A T 1: 176,607,960 (GRCm39) D165E possibly damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Cog3 A G 14: 75,957,152 (GRCm39) L627P probably damaging Het
Col23a1 C T 11: 51,464,995 (GRCm39) L453F probably damaging Het
Cyp2a22 T A 7: 26,633,657 (GRCm39) Q351L probably benign Het
Ddx4 T G 13: 112,772,557 (GRCm39) K77N probably benign Het
Ddx4 C A 13: 112,772,556 (GRCm39) E78* probably null Het
Decr1 A T 4: 15,931,179 (GRCm39) N92K probably benign Het
Dnm2 T C 9: 21,411,571 (GRCm39) L600P probably damaging Het
Ece2 A C 16: 20,457,932 (GRCm39) N356H probably damaging Het
Ern1 A T 11: 106,317,734 (GRCm39) I130N possibly damaging Het
Fat2 G A 11: 55,187,097 (GRCm39) R1250C probably damaging Het
Fat4 T A 3: 39,005,505 (GRCm39) V1968D probably damaging Het
Frmd6 A G 12: 70,923,987 (GRCm39) K82E probably damaging Het
Gm5431 A G 11: 48,785,826 (GRCm39) V183A probably benign Het
Golgb1 T C 16: 36,735,984 (GRCm39) S1744P possibly damaging Het
Hnrnpa3 C G 2: 75,492,914 (GRCm39) Q213E possibly damaging Het
Hspa1a A G 17: 35,189,526 (GRCm39) F459S probably damaging Het
Ice1 A G 13: 70,751,283 (GRCm39) L1601P probably damaging Het
Igkv19-93 T A 6: 68,713,323 (GRCm39) D102V probably damaging Het
Kansl1 G A 11: 104,248,352 (GRCm39) T534I probably benign Het
Lpin2 T A 17: 71,538,264 (GRCm39) S303R probably damaging Het
Lrpprc T A 17: 85,048,065 (GRCm39) I845F probably benign Het
Mdn1 A G 4: 32,749,593 (GRCm39) T4259A probably benign Het
Mtcl2 T C 2: 156,863,339 (GRCm39) S1197G probably benign Het
Mtss1 A G 15: 58,815,568 (GRCm39) I664T probably benign Het
Myh8 A G 11: 67,192,793 (GRCm39) E1528G probably benign Het
Myo5c A T 9: 75,152,319 (GRCm39) E69V probably damaging Het
Myom3 A T 4: 135,513,203 (GRCm39) D627V probably benign Het
Myom3 A G 4: 135,528,314 (GRCm39) N1053S probably benign Het
Or10a4 G A 7: 106,697,464 (GRCm39) R264H possibly damaging Het
Or2d2b A T 7: 106,705,145 (GRCm39) S308T probably benign Het
Or6z3 T C 7: 6,463,547 (GRCm39) V13A probably benign Het
Phactr1 T A 13: 43,248,247 (GRCm39) S399T probably benign Het
Plch2 T A 4: 155,091,558 (GRCm39) Y84F probably damaging Het
Ppp1r13b A G 12: 111,802,160 (GRCm39) S278P probably benign Het
Prol1 A G 5: 88,475,736 (GRCm39) Y42C probably damaging Het
Pum2 A G 12: 8,798,205 (GRCm39) E906G probably damaging Het
Pwwp3a T A 10: 80,068,848 (GRCm39) C331S probably benign Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Selenbp1 T C 3: 94,851,157 (GRCm39) L351P possibly damaging Het
Serpinb6b T C 13: 33,156,255 (GRCm39) F115S probably damaging Het
Tigd3 A T 19: 5,942,870 (GRCm39) Y87N probably damaging Het
Tigd5 T A 15: 75,782,871 (GRCm39) L411H probably damaging Het
Ttc3 T C 16: 94,258,272 (GRCm39) probably null Het
Uhmk1 T C 1: 170,027,449 (GRCm39) Q416R probably damaging Het
Zfand4 T C 6: 116,250,575 (GRCm39) F2L probably damaging Het
Zfhx3 C T 8: 109,682,020 (GRCm39) T3153M possibly damaging Het
Zfp697 T G 3: 98,334,855 (GRCm39) C207G possibly damaging Het
Zfp935 T C 13: 62,602,685 (GRCm39) T172A probably benign Het
Znrf3 G T 11: 5,230,865 (GRCm39) L883I 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
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
Predicted Primers PCR Primer
(F):5'- AAGTTCTCCTTGACTCGGAAGC -3'
(R):5'- TTTTCGCTCAGTGAGGCCAC -3'

Sequencing Primer
(F):5'- TTGACTCGGAAGCTGCTCAC -3'
(R):5'- ACACCATGGCCACGTAGG -3'
Posted On 2018-03-15