Incidental Mutation 'IGL02946:Crabp1'
ID364733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crabp1
Ensembl Gene ENSMUSG00000032291
Gene Namecellular retinoic acid binding protein I
SynonymsRbp-5, Crabp-1, CrabpI
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02946
Quality Score
Status
Chromosome9
Chromosomal Location54764748-54773110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54764948 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 16 (F16S)
Ref Sequence ENSEMBL: ENSMUSP00000034830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034830]
PDB Structure
APO-CELLULAR RETINOIC ACID BINDING PROTEIN I [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF CELLULAR RETINOIC-ACID-BINDING PROTEINS I AND II IN COMPLEX WITH ALL-TRANS-RETINOIC ACID AND A SYNTHETIC RETINOID [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034830
AA Change: F16S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034830
Gene: ENSMUSG00000032291
AA Change: F16S

DomainStartEndE-ValueType
Pfam:Lipocalin_7 2 136 5.9e-9 PFAM
Pfam:Lipocalin 5 137 1.2e-25 PFAM
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 a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are phenotypically normal and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 110,028,215 probably benign Het
Actr3b T C 5: 25,848,483 I270T possibly damaging Het
Adgrf2 T C 17: 42,710,493 Y480C probably damaging Het
Arhgap27 T C 11: 103,338,348 T514A probably damaging Het
BC031181 C T 18: 75,008,665 probably benign Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Ccm2 G A 11: 6,596,195 R335H probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Crmp1 C T 5: 37,284,080 A502V probably damaging Het
Ehhadh A T 16: 21,762,922 V440D probably damaging Het
Fam129a A T 1: 151,649,425 I194F probably damaging Het
Galnt3 T A 2: 66,095,218 I392L probably damaging Het
Gm12689 T A 4: 99,296,253 N114K unknown Het
Hspa2 A G 12: 76,405,173 T214A probably damaging Het
Itga7 T C 10: 128,934,083 I32T probably benign Het
Itgal A G 7: 127,314,368 S682G probably damaging Het
Kctd1 C T 18: 14,973,979 probably null Het
Lrp1b T A 2: 41,312,559 D439V probably damaging Het
Mdn1 A G 4: 32,734,366 K3258E probably damaging Het
Mgat4c T C 10: 102,389,253 S443P probably benign Het
Mylk G A 16: 34,921,788 G890E probably benign Het
Mylk2 T A 2: 152,919,210 L446* probably null Het
Olfr1395 T G 11: 49,148,892 F212V probably damaging Het
Pi4k2b T C 5: 52,753,207 F278L probably damaging Het
Pitpnm3 A G 11: 72,092,552 S84P probably benign Het
Plxna2 T C 1: 194,749,309 probably benign Het
Prr5l C A 2: 101,772,184 probably null Het
Ptprs T C 17: 56,424,032 T719A probably benign Het
Rasa3 T C 8: 13,598,280 H128R probably benign Het
Rhox13 A G X: 38,129,775 K205E probably damaging Het
Rif1 C A 2: 52,110,125 S1197* probably null Het
Sgta A G 10: 81,049,778 probably benign Het
Slc25a5 T A X: 36,797,853 M239K probably damaging Het
Stil T A 4: 115,029,913 H734Q probably benign Het
Stk32b T C 5: 37,531,539 probably benign Het
Ubr4 T G 4: 139,425,295 F1999C probably damaging Het
Wfdc2 A C 2: 164,564,089 T86P probably benign Het
Zfp407 T C 18: 84,560,709 S760G probably damaging Het
Zfp668 A T 7: 127,866,518 L498Q possibly damaging Het
Other mutations in Crabp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0284:Crabp1 UTSW 9 54764926 missense probably benign 0.03
R0591:Crabp1 UTSW 9 54765603 missense probably damaging 1.00
R0931:Crabp1 UTSW 9 54768433 missense possibly damaging 0.69
R2025:Crabp1 UTSW 9 54768468 nonsense probably null
R6058:Crabp1 UTSW 9 54772845 missense probably damaging 1.00
R7880:Crabp1 UTSW 9 54765658 nonsense probably null
R7963:Crabp1 UTSW 9 54765658 nonsense probably null
Posted On2015-12-18