Incidental Mutation 'IGL00155:Crabp2'
ID1781
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crabp2
Ensembl Gene ENSMUSG00000004885
Gene Namecellular retinoic acid binding protein II
SynonymsCrabpII, Crabp-2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.688) question?
Stock #IGL00155
Quality Score
Status
Chromosome3
Chromosomal Location87948666-87953376 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87952199 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 52 (Y52C)
Ref Sequence ENSEMBL: ENSMUSP00000005019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005019]
Predicted Effect probably damaging
Transcript: ENSMUST00000005019
AA Change: Y52C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005019
Gene: ENSMUSG00000004885
AA Change: Y52C

DomainStartEndE-ValueType
Pfam:Lipocalin_7 2 136 1.1e-9 PFAM
Pfam:Lipocalin 5 138 4.8e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163040
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 member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygotes for targeted null mutations may exhibit an additional postaxial digit, usually on a single forepaw. Penetrance is dependent on the genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N22Rik A G 5: 11,921,410 S110G possibly damaging Het
Aacs T C 5: 125,513,171 F498S probably damaging Het
Arhgap11a A G 2: 113,834,256 S561P probably benign Het
Best3 T C 10: 116,988,727 Y33H probably damaging Het
Cd209b T A 8: 3,919,945 probably benign Het
Cep152 A G 2: 125,563,888 S1575P probably benign Het
Crybg1 T C 10: 43,992,509 D1017G probably damaging Het
Ctnna2 A T 6: 76,980,761 W137R probably damaging Het
Cxcl9 T A 5: 92,323,869 H104L possibly damaging Het
Ddr2 A G 1: 169,984,427 I742T possibly damaging Het
Frem1 A G 4: 82,959,389 V223A possibly damaging Het
Fzd10 T A 5: 128,601,528 I104N probably damaging Het
Greb1 A G 12: 16,711,961 S473P probably damaging Het
Gtf2i T C 5: 134,242,748 Y873C probably damaging Het
Igsf6 T A 7: 121,070,653 K89* probably null Het
Ints3 A G 3: 90,406,329 F331L probably damaging Het
Kcnh3 A T 15: 99,242,473 H1080L possibly damaging Het
Mettl15 A T 2: 109,093,176 Y300* probably null Het
Mms19 A G 19: 41,948,233 F654L probably benign Het
Myc A G 15: 61,989,820 H425R probably benign Het
Ntn1 G T 11: 68,226,619 probably benign Het
Ormdl2 C A 10: 128,820,075 G69W probably damaging Het
Pdpr T C 8: 111,102,072 V69A possibly damaging Het
Rbbp6 T C 7: 122,988,685 I254T probably damaging Het
Sema6d A G 2: 124,659,865 R543G possibly damaging Het
Slc18a1 C T 8: 69,051,346 A314T probably damaging Het
Slc22a26 A G 19: 7,782,836 L514P probably damaging Het
Slc22a28 A C 19: 8,130,203 S167A possibly damaging Het
Tchh A G 3: 93,445,299 E682G unknown Het
Thbs2 A T 17: 14,668,835 M1134K probably damaging Het
Tmem26 A G 10: 68,775,354 S218G probably damaging Het
Tmprss11c A T 5: 86,239,395 S208R probably benign Het
Tnfrsf8 T C 4: 145,292,591 probably null Het
Ush2a T C 1: 188,864,678 S3872P probably benign Het
Vmn1r69 T C 7: 10,579,952 N205S probably benign Het
Vmn2r54 T A 7: 12,631,913 probably benign Het
Wwtr1 A T 3: 57,463,521 M328K possibly damaging Het
Zfp64 G A 2: 168,926,681 S337L probably benign Het
Other mutations in Crabp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0384:Crabp2 UTSW 3 87953021 missense possibly damaging 0.90
R0740:Crabp2 UTSW 3 87952136 missense probably benign 0.01
R1776:Crabp2 UTSW 3 87952994 missense probably benign 0.01
R1956:Crabp2 UTSW 3 87948886 missense probably damaging 0.97
R3161:Crabp2 UTSW 3 87952177 nonsense probably null
R7410:Crabp2 UTSW 3 87952278 missense probably damaging 1.00
Posted On2011-07-12