Incidental Mutation 'IGL02231:Rbp7'
ID 285718
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbp7
Ensembl Gene ENSMUSG00000028996
Gene Name retinol binding protein 7, cellular
Synonyms 1110002J23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02231
Quality Score
Status
Chromosome 4
Chromosomal Location 149534144-149539435 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 149539334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030848] [ENSMUST00000030848] [ENSMUST00000148596]
AlphaFold Q9EPC5
Predicted Effect probably null
Transcript: ENSMUST00000030848
SMART Domains Protein: ENSMUSP00000030848
Gene: ENSMUSG00000028996

DomainStartEndE-ValueType
Pfam:Lipocalin 6 134 1.5e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000030848
SMART Domains Protein: ENSMUSP00000030848
Gene: ENSMUSG00000028996

DomainStartEndE-ValueType
Pfam:Lipocalin 6 134 1.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132103
Predicted Effect probably benign
Transcript: ENSMUST00000148596
SMART Domains Protein: ENSMUSP00000119166
Gene: ENSMUSG00000028996

DomainStartEndE-ValueType
Pfam:Lipocalin 2 61 1.1e-6 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the cellular retinol-binding protein (CRBP) family, whose members are required for vitamin A stability and metabolism. The encoded protein binds all-trans-retinol and is structurally similar to other CRBPs; however, it has a lower binding affinity for retinol than other CRBPs. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice have reduced retinyl ester levels in milk and other reductions in retinol and retinyl ester levels in a tissue and time dependent manner. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alcam T A 16: 52,094,413 (GRCm39) probably benign Het
Alox15 A C 11: 70,240,382 (GRCm39) D266E probably benign Het
Atcay A T 10: 81,046,382 (GRCm39) V314E probably damaging Het
Atp8b1 C T 18: 64,683,455 (GRCm39) G758R possibly damaging Het
Bltp2 G A 11: 78,170,722 (GRCm39) G1647D probably benign Het
Cacna2d4 T A 6: 119,254,869 (GRCm39) probably benign Het
Celsr3 T C 9: 108,719,709 (GRCm39) V2429A probably damaging Het
Clspn T G 4: 126,453,021 (GRCm39) D11E probably damaging Het
Cnot3 A G 7: 3,661,209 (GRCm39) T573A probably benign Het
Cyp2d34 A T 15: 82,502,807 (GRCm39) S140T probably benign Het
Edem1 A G 6: 108,805,849 (GRCm39) D50G probably benign Het
Emilin3 G A 2: 160,750,435 (GRCm39) T438I probably damaging Het
Etfdh C T 3: 79,525,700 (GRCm39) V173I probably damaging Het
Fat2 T C 11: 55,171,918 (GRCm39) T2932A probably damaging Het
Fcrl1 G A 3: 87,292,469 (GRCm39) E154K possibly damaging Het
Fcrl1 A T 3: 87,292,470 (GRCm39) E154V probably damaging Het
G3bp1 T A 11: 55,386,273 (GRCm39) L244* probably null Het
Itgae A T 11: 72,981,448 (GRCm39) K2M possibly damaging Het
Kcnq2 T C 2: 180,723,508 (GRCm39) I654V probably benign Het
Ksr2 C T 5: 117,638,841 (GRCm39) R82C probably damaging Het
Lrig3 A T 10: 125,833,041 (GRCm39) D305V probably damaging Het
Me1 T C 9: 86,493,908 (GRCm39) K322E possibly damaging Het
Med12l T A 3: 59,153,303 (GRCm39) D1109E probably damaging Het
Mest A G 6: 30,740,772 (GRCm39) K73E possibly damaging Het
Nup155 T G 15: 8,173,548 (GRCm39) L881R probably damaging Het
Ocln A T 13: 100,677,622 (GRCm39) S2T probably damaging Het
Oosp3 T C 19: 11,676,803 (GRCm39) L54S probably damaging Het
Pkp3 G A 7: 140,664,151 (GRCm39) E443K probably damaging Het
Plk2 T A 13: 110,536,603 (GRCm39) C632S probably benign Het
Ptk6 C T 2: 180,838,794 (GRCm39) V320I probably damaging Het
Ptprt A T 2: 162,079,980 (GRCm39) I273N probably damaging Het
Ptprt A G 2: 162,119,966 (GRCm39) probably null Het
Rab3gap2 T C 1: 184,999,095 (GRCm39) probably benign Het
Rabgef1 G A 5: 130,240,816 (GRCm39) A312T probably damaging Het
Rabl6 T A 2: 25,488,196 (GRCm39) K109N probably benign Het
Reg3a C T 6: 78,359,224 (GRCm39) H75Y possibly damaging Het
Rnf123 G T 9: 107,943,598 (GRCm39) P546T probably benign Het
Rnmt C A 18: 68,447,152 (GRCm39) C345* probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slc14a2 C T 18: 78,252,236 (GRCm39) S25N possibly damaging Het
Spata16 G T 3: 26,967,413 (GRCm39) G388W probably damaging Het
Speg C T 1: 75,400,031 (GRCm39) R2493W probably damaging Het
Thada T A 17: 84,736,125 (GRCm39) D970V probably damaging Het
Tmem184c A G 8: 78,331,441 (GRCm39) Y103H probably damaging Het
Ttn A T 2: 76,628,440 (GRCm39) D12827E probably damaging Het
Utp20 A G 10: 88,627,030 (GRCm39) L976S probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp936 T A 7: 42,836,909 (GRCm39) probably null Het
Other mutations in Rbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6479:Rbp7 UTSW 4 149,534,347 (GRCm39) missense probably benign
R6520:Rbp7 UTSW 4 149,537,371 (GRCm39) missense possibly damaging 0.75
R8927:Rbp7 UTSW 4 149,537,958 (GRCm39) nonsense probably null
R8928:Rbp7 UTSW 4 149,537,958 (GRCm39) nonsense probably null
R8986:Rbp7 UTSW 4 149,537,371 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16