Incidental Mutation 'R7880:Crabp1'
ID 608704
Institutional Source Beutler Lab
Gene Symbol Crabp1
Ensembl Gene ENSMUSG00000032291
Gene Name cellular retinoic acid binding protein I
Synonyms Crabp-1, CrabpI, Rbp-5
MMRRC Submission 045932-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7880 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 54672032-54680394 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 54672942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 82 (C82*)
Ref Sequence ENSEMBL: ENSMUSP00000034830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034830]
AlphaFold P62965
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 probably null
Transcript: ENSMUST00000034830
AA Change: C82*
SMART Domains Protein: ENSMUSP00000034830
Gene: ENSMUSG00000032291
AA Change: C82*

DomainStartEndE-ValueType
Pfam:Lipocalin_7 2 136 5.9e-9 PFAM
Pfam:Lipocalin 5 137 1.2e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,511,691 (GRCm39) D703V possibly damaging Het
Adamts1 G A 16: 85,594,940 (GRCm39) R340* probably null Het
Akap13 A G 7: 75,235,964 (GRCm39) T180A probably damaging Het
Arhgap31 G A 16: 38,423,087 (GRCm39) A993V probably benign Het
Asxl3 C T 18: 22,655,208 (GRCm39) P1073S possibly damaging Het
Bmp3 T G 5: 99,020,434 (GRCm39) S286A probably damaging Het
Cacna2d4 C T 6: 119,326,116 (GRCm39) S1078F probably damaging Het
Cd101 A G 3: 100,915,182 (GRCm39) L799P probably benign Het
Chst13 C T 6: 90,302,062 (GRCm39) R28H possibly damaging Het
CN725425 T A 15: 91,130,308 (GRCm39) C390* probably null Het
Cyp2b23 A C 7: 26,372,559 (GRCm39) V352G probably damaging Het
Dmrta1 T A 4: 89,577,081 (GRCm39) V179E possibly damaging Het
Ect2l T C 10: 18,012,702 (GRCm39) D839G possibly damaging Het
Espnl A T 1: 91,272,488 (GRCm39) E616V possibly damaging Het
Fam50b C A 13: 34,930,802 (GRCm39) Q93K probably benign Het
Focad C T 4: 88,319,407 (GRCm39) R1539C unknown Het
Gm14443 T A 2: 175,011,163 (GRCm39) I428L probably benign Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Gramd1c C G 16: 43,812,439 (GRCm39) A193P probably benign Het
Gsn A G 2: 35,173,939 (GRCm39) H54R probably damaging Het
Gucy2g T A 19: 55,194,712 (GRCm39) I902F probably damaging Het
H2-T9 T A 17: 36,438,761 (GRCm39) H210L possibly damaging Het
Heg1 T C 16: 33,539,879 (GRCm39) S280P possibly damaging Het
Herc1 G T 9: 66,415,506 (GRCm39) R4827L probably damaging Het
Igsf21 A G 4: 139,884,819 (GRCm39) C46R probably damaging Het
Kansl1 G T 11: 104,314,979 (GRCm39) A353D probably damaging Het
Kcnab3 A G 11: 69,222,290 (GRCm39) Y311C probably damaging Het
Kctd18 A G 1: 58,006,778 (GRCm39) I24T possibly damaging Het
Lpcat4 C A 2: 112,070,376 (GRCm39) H30N probably benign Het
Lrrc4c A G 2: 97,461,143 (GRCm39) I590V probably benign Het
Lrrc69 T C 4: 14,703,946 (GRCm39) I291M possibly damaging Het
Nsun6 A C 2: 15,001,190 (GRCm39) C455W probably damaging Het
Or12e1 T A 2: 87,022,434 (GRCm39) C134* probably null Het
Or4c3 A T 2: 89,852,381 (GRCm39) F10I probably damaging Het
Or5ak22 G T 2: 85,230,379 (GRCm39) S166Y possibly damaging Het
Or7g19 T G 9: 18,856,024 (GRCm39) L27V probably benign Het
Orc6 T C 8: 86,031,873 (GRCm39) I162T probably benign Het
Pex13 A T 11: 23,599,369 (GRCm39) S381T probably benign Het
Ppil1 G A 17: 29,480,762 (GRCm39) H54Y probably damaging Het
Prrt4 T C 6: 29,170,155 (GRCm39) I766V probably benign Het
Rab32 C T 10: 10,422,159 (GRCm39) V187M probably damaging Het
Sema5a T A 15: 32,686,954 (GRCm39) I1022N probably damaging Het
Sipa1l2 T C 8: 126,191,132 (GRCm39) T953A probably damaging Het
Snapc3 T C 4: 83,353,431 (GRCm39) S157P probably damaging Het
Spink5 A G 18: 44,119,393 (GRCm39) R235G probably benign Het
Stx5a G A 19: 8,719,692 (GRCm39) G19D probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Taf4 G A 2: 179,577,726 (GRCm39) R532* probably null Het
Tmpo T A 10: 91,001,892 (GRCm39) K106* probably null Het
Trnt1 T C 6: 106,746,517 (GRCm39) probably null Het
Vmn1r228 A T 17: 20,996,672 (GRCm39) I282N probably damaging Het
Vps13d A T 4: 144,907,684 (GRCm39) probably null Het
Zfp703 A G 8: 27,468,718 (GRCm39) I51V unknown Het
Zfp787 A G 7: 6,135,190 (GRCm39) F354L probably benign Het
Znrf2 T C 6: 54,794,332 (GRCm39) V111A probably benign Het
Zwint G T 10: 72,492,924 (GRCm39) R182L probably benign Het
Other mutations in Crabp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02946:Crabp1 APN 9 54,672,232 (GRCm39) missense possibly damaging 0.66
R0284:Crabp1 UTSW 9 54,672,210 (GRCm39) missense probably benign 0.03
R0591:Crabp1 UTSW 9 54,672,887 (GRCm39) missense probably damaging 1.00
R0931:Crabp1 UTSW 9 54,675,717 (GRCm39) missense possibly damaging 0.69
R2025:Crabp1 UTSW 9 54,675,752 (GRCm39) nonsense probably null
R6058:Crabp1 UTSW 9 54,680,129 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAACGCCATGCTGAGGAAG -3'
(R):5'- GAACCTCTCTACCTATGCAGCC -3'

Sequencing Primer
(F):5'- CATGCTGAGGAAGGTGGCC -3'
(R):5'- CAGAGTTCAAAGCGCGC -3'
Posted On 2019-12-20