Incidental Mutation 'R3161:Crabp2'
ID 258154
Institutional Source Beutler Lab
Gene Symbol Crabp2
Ensembl Gene ENSMUSG00000004885
Gene Name cellular retinoic acid binding protein II
Synonyms Crabp-2, CrabpII
MMRRC Submission 040612-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.750) question?
Stock # R3161 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87856000-87860679 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 87859484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 45 (K45*)
Ref Sequence ENSEMBL: ENSMUSP00000005019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005019]
AlphaFold P22935
Predicted Effect probably null
Transcript: ENSMUST00000005019
AA Change: K45*
SMART Domains Protein: ENSMUSP00000005019
Gene: ENSMUSG00000004885
AA Change: K45*

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
Meta Mutation Damage Score 0.9711 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,053,833 (GRCm39) probably benign Het
1700066M21Rik T A 1: 57,422,234 (GRCm39) N203K probably benign Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Adgrl2 G A 3: 148,523,187 (GRCm39) L1354F probably damaging Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Aox1 G T 1: 58,343,597 (GRCm39) V427L possibly damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
Bptf A T 11: 106,965,302 (GRCm39) D1182E probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Chct1 A G 11: 85,064,110 (GRCm39) S84G probably damaging Het
Ciz1 A G 2: 32,260,075 (GRCm39) D207G probably benign Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Daam1 C A 12: 71,993,872 (GRCm39) T425K unknown Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dlg4 G C 11: 69,908,051 (GRCm39) R4T probably damaging Het
Fbf1 A G 11: 116,039,046 (GRCm39) I743T probably damaging Het
Fen1 A G 19: 10,177,655 (GRCm39) L263P probably damaging Het
G6pc2 A G 2: 69,050,456 (GRCm39) N27S probably damaging Het
Garnl3 A T 2: 32,924,723 (GRCm39) N246K probably damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Gpr152 A G 19: 4,192,713 (GRCm39) T85A probably benign Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Ighv1-81 C G 12: 115,883,949 (GRCm39) E101Q probably benign Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Myo9a C T 9: 59,739,598 (GRCm39) probably benign Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or5an1c T C 19: 12,218,860 (GRCm39) H55R probably benign Het
Or6d13 C T 6: 116,517,807 (GRCm39) A131V probably damaging Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Phyh T A 2: 4,942,482 (GRCm39) probably benign Het
Pkp4 G T 2: 59,138,449 (GRCm39) R233M probably damaging Het
Plcb1 A T 2: 135,177,402 (GRCm39) Q578L probably benign Het
Ppil3 A T 1: 58,473,573 (GRCm39) N92K probably benign Het
Prokr1 C T 6: 87,565,413 (GRCm39) R144H probably damaging Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Sult2a4 T C 7: 13,723,396 (GRCm39) T40A probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Ttn A G 2: 76,663,581 (GRCm39) probably benign Het
Vmn2r115 T A 17: 23,575,998 (GRCm39) M532K possibly damaging Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wipf1 C T 2: 73,265,293 (GRCm39) E437K probably damaging Het
Wls G T 3: 159,603,073 (GRCm39) C162F probably damaging Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zfp868 A G 8: 70,064,736 (GRCm39) S200P probably benign Het
Other mutations in Crabp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Crabp2 APN 3 87,859,506 (GRCm39) missense probably damaging 1.00
R0384:Crabp2 UTSW 3 87,860,328 (GRCm39) missense possibly damaging 0.90
R0740:Crabp2 UTSW 3 87,859,443 (GRCm39) missense probably benign 0.01
R1776:Crabp2 UTSW 3 87,860,301 (GRCm39) missense probably benign 0.01
R1956:Crabp2 UTSW 3 87,856,193 (GRCm39) missense probably damaging 0.97
R7410:Crabp2 UTSW 3 87,859,585 (GRCm39) missense probably damaging 1.00
R9302:Crabp2 UTSW 3 87,859,833 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TATAGCCTGCCTCACCTGGATC -3'
(R):5'- CTAGACGTGGCAAGTAGGTG -3'

Sequencing Primer
(F):5'- TTATTATCACCCCACCCCTACAC -3'
(R):5'- CAAGTAGGTGCTGTGACGC -3'
Posted On 2015-01-23