Incidental Mutation 'R6819:Rbp2'
ID 537524
Institutional Source Beutler Lab
Gene Symbol Rbp2
Ensembl Gene ENSMUSG00000032454
Gene Name retinol binding protein 2, cellular
Synonyms Rbp-2, CrbpII, Crbp-2
MMRRC Submission 044931-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R6819 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 98372590-98391824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98391614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 130 (V130E)
Ref Sequence ENSEMBL: ENSMUSP00000140676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035029] [ENSMUST00000187905] [ENSMUST00000189446]
AlphaFold Q08652
Predicted Effect probably damaging
Transcript: ENSMUST00000035029
AA Change: V130E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035029
Gene: ENSMUSG00000032454
AA Change: V130E

DomainStartEndE-ValueType
Pfam:Lipocalin_7 4 134 4.2e-11 PFAM
Pfam:Lipocalin 6 134 4.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000187905
AA Change: V130E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140630
Gene: ENSMUSG00000032454
AA Change: V130E

DomainStartEndE-ValueType
Pfam:Lipocalin_7 4 134 4.2e-11 PFAM
Pfam:Lipocalin 6 134 4.3e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189446
AA Change: V130E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140676
Gene: ENSMUSG00000032454
AA Change: V130E

DomainStartEndE-ValueType
Pfam:Lipocalin_7 4 134 4.2e-11 PFAM
Pfam:Lipocalin 6 134 4.3e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an abundant protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. This protein may also modulate the supply of retinoic acid to the nuclei of endometrial cells during the menstrual cycle. [provided by RefSeq, Aug 2015]
PHENOTYPE: Saturable vitamin A (retinol) uptake is impaired in homozygous mutant mice. Serum retinol levels are unaffected when with normal dietary intake, however, pups of homozygous dams fed a marginal retinol diet show increased neonatal lethality due to inadequate retinal transport to the fetus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C A 17: 24,506,767 (GRCm39) V1196L probably benign Het
Adal T A 2: 120,978,794 (GRCm39) I138N probably damaging Het
Arfgap1 T C 2: 180,613,478 (GRCm39) probably null Het
Boc T C 16: 44,313,188 (GRCm39) T559A probably damaging Het
Brip1 A G 11: 86,001,267 (GRCm39) V723A possibly damaging Het
Cnot10 A C 9: 114,444,123 (GRCm39) I424S probably benign Het
Cntnap4 T G 8: 113,529,858 (GRCm39) S689A probably benign Het
Cuzd1 A T 7: 130,911,460 (GRCm39) N506K possibly damaging Het
Dctn3 T A 4: 41,715,259 (GRCm39) T158S possibly damaging Het
Dnai2 A G 11: 114,635,917 (GRCm39) I301V probably benign Het
Ebpl G T 14: 61,578,695 (GRCm39) P180Q probably damaging Het
Epha5 T A 5: 84,254,649 (GRCm39) Y489F probably damaging Het
Frmd8 T C 19: 5,915,208 (GRCm39) N232S probably benign Het
Fuca1 T C 4: 135,660,267 (GRCm39) Y262H probably damaging Het
Gfy T C 7: 44,826,975 (GRCm39) I374V possibly damaging Het
Glg1 G A 8: 111,914,513 (GRCm39) R424C probably damaging Het
Ica1 G T 6: 8,742,288 (GRCm39) T115K probably damaging Het
Igf2bp2 T C 16: 21,879,586 (GRCm39) E511G probably damaging Het
Jag2 C A 12: 112,874,161 (GRCm39) R998L probably damaging Het
Kcnv1 G T 15: 44,972,513 (GRCm39) L457I probably damaging Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Ms4a8a T A 19: 11,053,743 (GRCm39) H121L probably damaging Het
Muc5b T A 7: 141,412,600 (GRCm39) S1849T unknown Het
Myo10 T C 15: 25,781,496 (GRCm39) V997A possibly damaging Het
Or10g3b A G 14: 52,587,156 (GRCm39) Y116H probably damaging Het
Or10g9b T A 9: 39,917,844 (GRCm39) M134L probably benign Het
Or8g54 T A 9: 39,706,905 (GRCm39) I78N probably benign Het
Pate2 T A 9: 35,581,801 (GRCm39) C32S probably damaging Het
Per1 G T 11: 68,992,284 (GRCm39) Q179H probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Rictor T A 15: 6,825,517 (GRCm39) probably null Het
Rundc3a A T 11: 102,289,287 (GRCm39) R153* probably null Het
Scrn3 C T 2: 73,149,826 (GRCm39) A174V probably damaging Het
Serpina10 T A 12: 103,594,619 (GRCm39) Q200L probably benign Het
Slc25a51 A T 4: 45,399,365 (GRCm39) I275N possibly damaging Het
Spast C T 17: 74,674,281 (GRCm39) H238Y possibly damaging Het
Speg A T 1: 75,368,456 (GRCm39) I775F possibly damaging Het
Ssh1 G T 5: 114,084,851 (GRCm39) T463K probably benign Het
Tm2d3 A G 7: 65,347,526 (GRCm39) E151G probably damaging Het
Uggt2 A G 14: 119,263,847 (GRCm39) I1061T probably damaging Het
Unc79 T G 12: 103,108,267 (GRCm39) S1941A probably benign Het
Vcan T C 13: 89,853,244 (GRCm39) D572G probably benign Het
Vmn2r16 T G 5: 109,488,412 (GRCm39) S428R probably benign Het
Zeb1 A G 18: 5,591,917 (GRCm39) D3G probably damaging Het
Zfp352 A G 4: 90,112,936 (GRCm39) T359A probably benign Het
Zfp987 C A 4: 146,062,315 (GRCm39) D582E probably benign Het
Zg16 G A 7: 126,649,692 (GRCm39) P90S possibly damaging Het
Other mutations in Rbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Rbp2 APN 9 98,380,950 (GRCm39) splice site probably null
R3780:Rbp2 UTSW 9 98,380,879 (GRCm39) missense probably benign
R4835:Rbp2 UTSW 9 98,389,876 (GRCm39) missense probably damaging 0.99
R4980:Rbp2 UTSW 9 98,380,894 (GRCm39) missense probably benign 0.01
R6253:Rbp2 UTSW 9 98,372,700 (GRCm39) missense probably benign 0.02
R6254:Rbp2 UTSW 9 98,372,700 (GRCm39) missense probably benign 0.02
R6312:Rbp2 UTSW 9 98,372,700 (GRCm39) missense probably benign 0.02
R6394:Rbp2 UTSW 9 98,389,873 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GTCAAAATCAAATTACTGCTACCCTGC -3'
(R):5'- CGAAGGCTGAGAGGACATTTTG -3'

Sequencing Primer
(F):5'- ATGGCAGCCGATTGGGTC -3'
(R):5'- TTCTTTAATAACAAGCTTGGGGG -3'
Posted On 2018-10-18