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
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02231
Quality Score
Status
Chromosome 4
Chromosomal Location 149449687-149454978 bp(-) (GRCm38)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 149454877 bp (GRCm38)
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
2610507B11Rik G A 11: 78,279,896 G1647D probably benign Het
Alcam T A 16: 52,274,050 probably benign Het
Alox15 A C 11: 70,349,556 D266E probably benign Het
Atcay A T 10: 81,210,548 V314E probably damaging Het
Atp8b1 C T 18: 64,550,384 G758R possibly damaging Het
Cacna2d4 T A 6: 119,277,908 probably benign Het
Celsr3 T C 9: 108,842,510 V2429A probably damaging Het
Clspn T G 4: 126,559,228 D11E probably damaging Het
Cnot3 A G 7: 3,658,210 T573A probably benign Het
Cyp2d34 A T 15: 82,618,606 S140T probably benign Het
Edem1 A G 6: 108,828,888 D50G probably benign Het
Emilin3 G A 2: 160,908,515 T438I probably damaging Het
Etfdh C T 3: 79,618,393 V173I probably damaging Het
Fat2 T C 11: 55,281,092 T2932A probably damaging Het
Fcrl1 G A 3: 87,385,162 E154K possibly damaging Het
Fcrl1 A T 3: 87,385,163 E154V probably damaging Het
G3bp1 T A 11: 55,495,447 L244* probably null Het
Itgae A T 11: 73,090,622 K2M possibly damaging Het
Kcnq2 T C 2: 181,081,715 I654V probably benign Het
Ksr2 C T 5: 117,500,776 R82C probably damaging Het
Lrig3 A T 10: 125,997,172 D305V probably damaging Het
Me1 T C 9: 86,611,855 K322E possibly damaging Het
Med12l T A 3: 59,245,882 D1109E probably damaging Het
Mest A G 6: 30,740,773 K73E possibly damaging Het
Nup155 T G 15: 8,144,064 L881R probably damaging Het
Ocln A T 13: 100,541,114 S2T probably damaging Het
Oosp3 T C 19: 11,699,439 L54S probably damaging Het
Pkp3 G A 7: 141,084,238 E443K probably damaging Het
Plk2 T A 13: 110,400,069 C632S probably benign Het
Ptk6 C T 2: 181,197,001 V320I probably damaging Het
Ptprt A T 2: 162,238,060 I273N probably damaging Het
Ptprt A G 2: 162,278,046 probably null Het
Rab3gap2 T C 1: 185,266,898 probably benign Het
Rabgef1 G A 5: 130,211,975 A312T probably damaging Het
Rabl6 T A 2: 25,598,184 K109N probably benign Het
Reg3a C T 6: 78,382,241 H75Y possibly damaging Het
Rnf123 G T 9: 108,066,399 P546T probably benign Het
Rnmt C A 18: 68,314,081 C345* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slc14a2 C T 18: 78,209,021 S25N possibly damaging Het
Spata16 G T 3: 26,913,264 G388W probably damaging Het
Speg C T 1: 75,423,387 R2493W probably damaging Het
Thada T A 17: 84,428,697 D970V probably damaging Het
Tmem184c A G 8: 77,604,812 Y103H probably damaging Het
Ttn A T 2: 76,798,096 D12827E probably damaging Het
Utp20 A G 10: 88,791,168 L976S probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp936 T A 7: 43,187,485 probably null Het
Other mutations in Rbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6479:Rbp7 UTSW 4 149449890 missense probably benign
R6520:Rbp7 UTSW 4 149452914 missense possibly damaging 0.75
R8927:Rbp7 UTSW 4 149453501 nonsense probably null
R8928:Rbp7 UTSW 4 149453501 nonsense probably null
R8986:Rbp7 UTSW 4 149452914 missense probably benign 0.00
Posted On 2015-04-16