Incidental Mutation 'IGL00157:Rbp2'
ID1287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbp2
Ensembl Gene ENSMUSG00000032454
Gene Nameretinol binding protein 2, cellular
SynonymsRbp-2, CrbpII, Crbp-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL00157
Quality Score
Status
Chromosome9
Chromosomal Location98486115-98509781 bp(+) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) A to G at 98498897 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035029] [ENSMUST00000187905] [ENSMUST00000189446]
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: 44,253,451 V331A possibly damaging Het
Casr C A 16: 36,495,810 V633F probably damaging Het
Cblb T G 16: 52,183,307 V716G probably benign Het
Cbln2 C T 18: 86,716,384 Q156* probably null Het
Cnn1 G T 9: 22,099,397 L14F possibly damaging Het
D830013O20Rik T C 12: 73,364,247 noncoding transcript Het
Drd1 A G 13: 54,053,878 S99P probably damaging Het
Fam35a A G 14: 34,268,625 V108A probably benign Het
Fat1 T C 8: 44,951,670 V486A possibly damaging Het
Galnt7 T C 8: 57,540,039 N416S probably damaging Het
Gm10735 T C 13: 113,041,484 probably benign Het
Gm8909 A T 17: 36,165,354 probably null Het
Jag2 T C 12: 112,912,718 T790A probably benign Het
Klhdc1 T A 12: 69,242,008 Y31N possibly damaging Het
Lama1 A T 17: 67,815,928 M2769L probably benign Het
Mms19 A G 19: 41,945,457 probably null Het
Msrb2 C A 2: 19,394,341 P172T probably damaging Het
Olfr228 T C 2: 86,483,218 S175G probably benign Het
Olfr955 A G 9: 39,470,243 V161A probably benign Het
Pcdhb9 T A 18: 37,403,279 D775E possibly damaging Het
Pkhd1 T C 1: 20,566,874 probably null Het
Preb A T 5: 30,955,964 D375E probably damaging Het
Prkdc T C 16: 15,697,226 I1010T probably damaging Het
Sept9 A G 11: 117,352,184 T66A probably damaging Het
Serpinb9b A T 13: 33,035,625 E178D probably benign Het
Tg A G 15: 66,847,166 Y258C probably damaging Het
Tmprss7 T C 16: 45,663,368 R548G probably benign Het
Uba7 G A 9: 107,979,111 A536T probably benign Het
Vmn2r114 G A 17: 23,291,665 P614S probably damaging Het
Xpc A G 6: 91,492,264 probably benign Het
Yrdc T C 4: 124,853,961 S86P probably damaging Het
Zbed6 G T 1: 133,657,376 A741D probably damaging Het
Other mutations in Rbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3780:Rbp2 UTSW 9 98498826 missense probably benign
R4835:Rbp2 UTSW 9 98507823 missense probably damaging 0.99
R4980:Rbp2 UTSW 9 98498841 missense probably benign 0.01
R6253:Rbp2 UTSW 9 98490647 missense probably benign 0.02
R6254:Rbp2 UTSW 9 98490647 missense probably benign 0.02
R6312:Rbp2 UTSW 9 98490647 missense probably benign 0.02
R6394:Rbp2 UTSW 9 98507820 missense possibly damaging 0.91
R6819:Rbp2 UTSW 9 98509561 missense probably damaging 0.96
Posted On2011-07-12