Incidental Mutation 'R6312:Rbp2'
ID 509830
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 044415-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R6312 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 98372590-98391824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98372700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 13 (S13I)
Ref Sequence ENSEMBL: ENSMUSP00000140676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035029] [ENSMUST00000187905] [ENSMUST00000189446]
AlphaFold Q08652
Predicted Effect probably benign
Transcript: ENSMUST00000035029
AA Change: S13I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000035029
Gene: ENSMUSG00000032454
AA Change: S13I

DomainStartEndE-ValueType
Pfam:Lipocalin_7 4 134 4.2e-11 PFAM
Pfam:Lipocalin 6 134 4.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187905
AA Change: S13I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000140630
Gene: ENSMUSG00000032454
AA Change: S13I

DomainStartEndE-ValueType
Pfam:Lipocalin_7 4 134 4.2e-11 PFAM
Pfam:Lipocalin 6 134 4.3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188779
Predicted Effect probably benign
Transcript: ENSMUST00000189446
AA Change: S13I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000140676
Gene: ENSMUSG00000032454
AA Change: S13I

DomainStartEndE-ValueType
Pfam:Lipocalin_7 4 134 4.2e-11 PFAM
Pfam:Lipocalin 6 134 4.3e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195675
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,936,541 (GRCm39) S472P possibly damaging Het
Aadacl4fm1 A T 4: 144,255,072 (GRCm39) H164L probably benign Het
Abraxas2 G A 7: 132,476,694 (GRCm39) A145T probably damaging Het
AC153874.1 T A 10: 77,682,961 (GRCm39) probably benign Het
Acadvl T A 11: 69,902,593 (GRCm39) M375L probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Arl4d T C 11: 101,558,079 (GRCm39) *202R probably null Het
B3gat2 G T 1: 23,854,548 (GRCm39) E83* probably null Het
Bmper C A 9: 23,318,087 (GRCm39) Q569K possibly damaging Het
C2cd4d C A 3: 94,271,742 (GRCm39) P336H probably damaging Het
Cct2 A T 10: 116,891,960 (GRCm39) S363T probably benign Het
Cers5 A G 15: 99,644,996 (GRCm39) V119A probably benign Het
Cfhr2 C T 1: 139,758,817 (GRCm39) V78I possibly damaging Het
Crocc2 A T 1: 93,143,432 (GRCm39) K1345* probably null Het
Cyp4f39 T C 17: 32,702,268 (GRCm39) M255T probably benign Het
Dpp6 A T 5: 27,930,669 (GRCm39) I834F possibly damaging Het
Dpy19l4 T A 4: 11,289,671 (GRCm39) K205* probably null Het
Epg5 T A 18: 78,022,426 (GRCm39) D1056E possibly damaging Het
Fam20a A C 11: 109,565,456 (GRCm39) C452G probably damaging Het
Gnai2 A T 9: 107,512,316 (GRCm39) V34E probably damaging Het
Gng3 A G 19: 8,815,997 (GRCm39) V7A probably benign Het
Hdc A G 2: 126,449,326 (GRCm39) V77A possibly damaging Het
Hint1 G A 11: 54,760,816 (GRCm39) C85Y probably benign Het
Kif17 C T 4: 138,015,504 (GRCm39) S551L probably benign Het
Lgr5 A G 10: 115,288,829 (GRCm39) L581P probably damaging Het
Lig4 G T 8: 10,021,739 (GRCm39) N680K probably benign Het
Lipi T A 16: 75,370,803 (GRCm39) Y138F probably damaging Het
Lrp2 C T 2: 69,267,025 (GRCm39) G4294E probably damaging Het
Lrrc7 A G 3: 157,866,246 (GRCm39) M1165T probably benign Het
Mtpap T C 18: 4,396,175 (GRCm39) I489T possibly damaging Het
Nlrp1b T A 11: 71,119,223 (GRCm39) N24I probably benign Het
Nlrp4a A G 7: 26,148,821 (GRCm39) T143A probably benign Het
Nudt2 A G 4: 41,480,386 (GRCm39) T90A probably benign Het
Or1j20 A T 2: 36,760,477 (GRCm39) I300L probably benign Het
Or52n20 T A 7: 104,320,796 (GRCm39) Y296N probably damaging Het
Or8b36 GTTT GTTTGCTGTTTT 9: 37,937,842 (GRCm39) probably null Het
Or8b36 TTT TTTGCTGATT 9: 37,937,843 (GRCm39) probably null Het
Or8b36 T TGCTGTTC 9: 37,937,845 (GRCm39) probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b36 TTGCTGT TTGCTGTCTGCTGT 9: 37,937,837 (GRCm39) probably null Het
Or8k53 A T 2: 86,177,925 (GRCm39) F62I probably damaging Het
Osmr A G 15: 6,853,119 (GRCm39) V592A probably damaging Het
Rsf1 A AGGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Rusf1 T C 7: 127,872,715 (GRCm39) K411R probably benign Het
Slc6a7 A G 18: 61,135,457 (GRCm39) S381P probably benign Het
Slitrk6 A G 14: 110,987,679 (GRCm39) L676P probably benign Het
Sspo T C 6: 48,434,300 (GRCm39) probably null Het
Tectb CT C 19: 55,181,094 (GRCm39) probably null Homo
Tma16 T C 8: 66,934,118 (GRCm39) E79G probably damaging Het
Trim14 G T 4: 46,507,257 (GRCm39) H320N probably damaging Het
Trim63 A G 4: 134,053,008 (GRCm39) D323G probably damaging Het
Vash2 C A 1: 190,690,880 (GRCm39) R309L probably benign Het
Vmn1r62 G A 7: 5,679,083 (GRCm39) V255M possibly damaging Het
Vmn2r53 T A 7: 12,332,566 (GRCm39) probably null Het
Zfp382 G A 7: 29,833,963 (GRCm39) R538H probably damaging Het
Zfp592 T A 7: 80,673,184 (GRCm39) D49E probably benign Het
Zfp60 T C 7: 27,448,201 (GRCm39) C290R probably damaging Het
Zfp69 G A 4: 120,806,714 (GRCm39) probably benign Het
Zfp790 G T 7: 29,527,647 (GRCm39) G111W probably damaging Het
Zfp948 T C 17: 21,807,429 (GRCm39) I207T 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
R6394:Rbp2 UTSW 9 98,389,873 (GRCm39) missense possibly damaging 0.91
R6819:Rbp2 UTSW 9 98,391,614 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CACAGACCTGTTGAACTTTGC -3'
(R):5'- GGACTTAACTGACTCTGCCCTG -3'

Sequencing Primer
(F):5'- GACCTGTTGAACTTTGCAAAGGC -3'
(R):5'- TGCCCTGCTACAACTCTGGAG -3'
Posted On 2018-04-02