Incidental Mutation 'IGL00157:Rbp2'
ID 1287
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00157
Quality Score
Status
Chromosome 9
Chromosomal Location 98372590-98391824 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 98380950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035029] [ENSMUST00000187905] [ENSMUST00000189446]
AlphaFold Q08652
Predicted Effect probably null
Transcript: ENSMUST00000035029
SMART Domains Protein: ENSMUSP00000035029
Gene: ENSMUSG00000032454

DomainStartEndE-ValueType
Pfam:Lipocalin_7 4 134 4.2e-11 PFAM
Pfam:Lipocalin 6 134 4.3e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000187905
SMART Domains Protein: ENSMUSP00000140630
Gene: ENSMUSG00000032454

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 null
Transcript: ENSMUST00000189446
SMART Domains Protein: ENSMUSP00000140676
Gene: ENSMUSG00000032454

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 43,902,875 (GRCm39) V331A possibly damaging Het
Casr C A 16: 36,316,172 (GRCm39) V633F probably damaging Het
Cblb T G 16: 52,003,670 (GRCm39) V716G probably benign Het
Cbln2 C T 18: 86,734,509 (GRCm39) Q156* probably null Het
Cnn1 G T 9: 22,010,693 (GRCm39) L14F possibly damaging Het
D830013O20Rik T C 12: 73,411,021 (GRCm39) noncoding transcript Het
Drd1 A G 13: 54,207,897 (GRCm39) S99P probably damaging Het
Fat1 T C 8: 45,404,707 (GRCm39) V486A possibly damaging Het
Galnt7 T C 8: 57,993,073 (GRCm39) N416S probably damaging Het
Gm10735 T C 13: 113,178,018 (GRCm39) probably benign Het
H2-T5 A T 17: 36,476,246 (GRCm39) probably null Het
Jag2 T C 12: 112,876,338 (GRCm39) T790A probably benign Het
Klhdc1 T A 12: 69,288,782 (GRCm39) Y31N possibly damaging Het
Lama1 A T 17: 68,122,923 (GRCm39) M2769L probably benign Het
Mms19 A G 19: 41,933,896 (GRCm39) probably null Het
Msrb2 C A 2: 19,399,152 (GRCm39) P172T probably damaging Het
Or8g35 A G 9: 39,381,539 (GRCm39) V161A probably benign Het
Or8k41 T C 2: 86,313,562 (GRCm39) S175G probably benign Het
Pcdhb9 T A 18: 37,536,332 (GRCm39) D775E possibly damaging Het
Pkhd1 T C 1: 20,637,098 (GRCm39) probably null Het
Preb A T 5: 31,113,308 (GRCm39) D375E probably damaging Het
Prkdc T C 16: 15,515,090 (GRCm39) I1010T probably damaging Het
Septin9 A G 11: 117,243,010 (GRCm39) T66A probably damaging Het
Serpinb9b A T 13: 33,219,608 (GRCm39) E178D probably benign Het
Shld2 A G 14: 33,990,582 (GRCm39) V108A probably benign Het
Tg A G 15: 66,719,015 (GRCm39) Y258C probably damaging Het
Tmprss7 T C 16: 45,483,731 (GRCm39) R548G probably benign Het
Uba7 G A 9: 107,856,310 (GRCm39) A536T probably benign Het
Vmn2r114 G A 17: 23,510,639 (GRCm39) P614S probably damaging Het
Xpc A G 6: 91,469,246 (GRCm39) probably benign Het
Yrdc T C 4: 124,747,754 (GRCm39) S86P probably damaging Het
Zbed6 G T 1: 133,585,114 (GRCm39) A741D probably damaging Het
Other mutations in Rbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6819:Rbp2 UTSW 9 98,391,614 (GRCm39) missense probably damaging 0.96
Posted On 2011-07-12