Incidental Mutation 'R3780:Rbp2'
ID 272008
Institutional Source Beutler Lab
Gene Symbol Rbp2
Ensembl Gene ENSMUSG00000032454
Gene Name retinol binding protein 2, cellular
Synonyms Rbp-2, CrbpII, Crbp-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R3780 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 98372590-98391824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98380879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 62 (D62N)
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: D62N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035029
Gene: ENSMUSG00000032454
AA Change: D62N

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: D62N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140630
Gene: ENSMUSG00000032454
AA Change: D62N

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: D62N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140676
Gene: ENSMUSG00000032454
AA Change: D62N

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
Meta Mutation Damage Score 0.0953 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 93% (40/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G T 7: 29,260,263 (GRCm39) noncoding transcript Het
Adam21 C T 12: 81,606,047 (GRCm39) V572I probably damaging Het
Arhgap32 T A 9: 32,063,315 (GRCm39) probably null Het
Carmil1 A T 13: 24,321,152 (GRCm39) I281N probably damaging Het
Cdh12 T A 15: 21,586,063 (GRCm39) probably null Het
Cdh20 T A 1: 109,976,734 (GRCm39) V133E probably benign Het
Cntrob A G 11: 69,193,708 (GRCm39) L814P probably damaging Het
Csmd1 T C 8: 16,252,000 (GRCm39) N952S probably damaging Het
Cspg4 A G 9: 56,795,517 (GRCm39) Y1084C probably damaging Het
Dlg5 A G 14: 24,240,378 (GRCm39) probably benign Het
Glis2 T C 16: 4,431,760 (GRCm39) probably benign Het
Hif3a T C 7: 16,788,638 (GRCm39) E111G probably damaging Het
Kctd4 A G 14: 76,200,251 (GRCm39) D74G probably benign Het
Kif21b A T 1: 136,083,964 (GRCm39) K737M probably damaging Het
Ktn1 G A 14: 47,943,860 (GRCm39) probably benign Het
Lama2 A T 10: 27,335,335 (GRCm39) N113K probably damaging Het
Ltv1 A G 10: 13,054,944 (GRCm39) S409P probably benign Het
Mgat4c A G 10: 102,224,782 (GRCm39) E332G probably benign Het
Myh6 A G 14: 55,201,415 (GRCm39) F95L probably benign Het
Ndufa4l2 A G 10: 127,351,289 (GRCm39) I27V probably benign Het
Npepl1 T G 2: 173,962,447 (GRCm39) L371R probably damaging Het
Nudt9 A G 5: 104,194,972 (GRCm39) T23A probably benign Het
Ocrl G A X: 47,027,180 (GRCm39) V416I probably benign Het
Or2g1 T G 17: 38,106,895 (GRCm39) C187G probably damaging Het
Padi2 C T 4: 140,645,048 (GRCm39) T94I probably benign Het
Pcca G A 14: 122,922,297 (GRCm39) E353K probably damaging Het
Pcdhgb2 T A 18: 37,824,810 (GRCm39) N600K probably damaging Het
Pex5l A G 3: 33,004,993 (GRCm39) L593P probably damaging Het
Rock1 G T 18: 10,067,575 (GRCm39) N1319K probably benign Het
Ror1 A C 4: 100,269,314 (GRCm39) D384A probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Sacm1l A T 9: 123,381,855 (GRCm39) E152D probably benign Het
Seh1l T C 18: 67,908,087 (GRCm39) V3A probably benign Het
Serpinb6d T A 13: 33,848,097 (GRCm39) D20E probably benign Het
Serpini1 T G 3: 75,521,942 (GRCm39) N144K probably damaging Het
Slc22a23 G A 13: 34,528,323 (GRCm39) T153I probably benign Het
Slfn8 A G 11: 82,908,280 (GRCm39) S88P probably benign Het
Stpg3 T A 2: 25,103,875 (GRCm39) M154L probably benign Het
Vmn2r115 G A 17: 23,564,146 (GRCm39) C106Y probably damaging Het
Washc3 C T 10: 88,055,122 (GRCm39) T112M probably benign Het
Zfp280d C T 9: 72,229,806 (GRCm39) T346M probably damaging Het
Other mutations in Rbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Rbp2 APN 9 98,380,950 (GRCm39) splice site probably null
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
R6819:Rbp2 UTSW 9 98,391,614 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GAAATGAATGAGTCTGGCTGC -3'
(R):5'- ATTTCTCACATGATCTGAGGCC -3'

Sequencing Primer
(F):5'- GAATGAGTCTGGCTGCACACATC -3'
(R):5'- ATGATCTGAGGCCCCTGCTC -3'
Posted On 2015-03-25