Incidental Mutation 'R0384:Crabp2'
ID 31148
Institutional Source Beutler Lab
Gene Symbol Crabp2
Ensembl Gene ENSMUSG00000004885
Gene Name cellular retinoic acid binding protein II
Synonyms Crabp-2, CrabpII
MMRRC Submission 038590-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.750) question?
Stock # R0384 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 87856000-87860679 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87860328 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 134 (V134A)
Ref Sequence ENSEMBL: ENSMUSP00000005019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005019]
AlphaFold P22935
Predicted Effect possibly damaging
Transcript: ENSMUST00000005019
AA Change: V134A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005019
Gene: ENSMUSG00000004885
AA Change: V134A

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 0.1193 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.7%
Validation Efficiency 100% (72/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 T A 7: 139,566,725 (GRCm39) probably benign Het
Akr1b8 T C 6: 34,341,265 (GRCm39) probably benign Het
Arhgef39 A G 4: 43,498,613 (GRCm39) L117P probably damaging Het
Atp13a1 A T 8: 70,249,974 (GRCm39) Q356L possibly damaging Het
Bmp2k T A 5: 97,178,984 (GRCm39) probably benign Het
Ccdc141 A G 2: 76,857,992 (GRCm39) V1063A probably damaging Het
Col20a1 T C 2: 180,640,955 (GRCm39) Y568H probably benign Het
Cyp19a1 T C 9: 54,080,025 (GRCm39) K265E probably benign Het
Cyp2j9 T C 4: 96,474,122 (GRCm39) H106R probably benign Het
Dcps T C 9: 35,087,239 (GRCm39) K9R probably damaging Het
Dnajc6 C T 4: 101,456,153 (GRCm39) T47I probably damaging Het
Dnhd1 T G 7: 105,369,321 (GRCm39) S4315A possibly damaging Het
Dnmt3l A T 10: 77,888,571 (GRCm39) I158F possibly damaging Het
Dock3 A G 9: 106,779,094 (GRCm39) probably benign Het
Eefsec A G 6: 88,258,632 (GRCm39) probably null Het
Fam204a T C 19: 60,209,728 (GRCm39) M1V probably null Het
Fam98b T C 2: 117,098,328 (GRCm39) V266A possibly damaging Het
Fat2 A T 11: 55,160,291 (GRCm39) I3274N possibly damaging Het
Fbh1 A G 2: 11,754,389 (GRCm39) I198T probably damaging Het
Fer T C 17: 64,231,179 (GRCm39) probably benign Het
Fhad1 T A 4: 141,729,737 (GRCm39) M89L probably benign Het
Fjx1 C A 2: 102,281,452 (GRCm39) C161F probably damaging Het
Fkbp7 T A 2: 76,496,168 (GRCm39) probably benign Het
Gm42669 T A 5: 107,656,664 (GRCm39) C976S probably benign Het
Gm4845 T C 1: 141,184,823 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,388,332 (GRCm39) probably benign Het
Hook3 C T 8: 26,534,263 (GRCm39) probably null Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Itga2b A T 11: 102,356,188 (GRCm39) probably null Het
Klk1b21 T C 7: 43,754,917 (GRCm39) Y71H probably benign Het
Kndc1 A T 7: 139,490,515 (GRCm39) N339I possibly damaging Het
Ky C T 9: 102,419,289 (GRCm39) T432I probably benign Het
Map4 C T 9: 109,863,696 (GRCm39) T307I probably damaging Het
Matn1 T C 4: 130,671,787 (GRCm39) L18P probably benign Het
Mindy4 G A 6: 55,193,669 (GRCm39) D121N probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Msto1 G A 3: 88,817,646 (GRCm39) Q441* probably null Het
Muc5ac A G 7: 141,365,988 (GRCm39) H2048R possibly damaging Het
Musk T C 4: 58,373,711 (GRCm39) *879Q probably null Het
Nat8f2 T C 6: 85,845,350 (GRCm39) Y4C possibly damaging Het
Ncaph2 T A 15: 89,253,594 (GRCm39) I282N probably benign Het
Nid1 A G 13: 13,638,421 (GRCm39) T114A probably benign Het
Npr1 C A 3: 90,372,474 (GRCm39) G113C probably damaging Het
Nrxn1 G A 17: 90,515,775 (GRCm39) P193S probably damaging Het
Nwd2 T C 5: 63,963,025 (GRCm39) F870L probably benign Het
Or10h1b A G 17: 33,395,522 (GRCm39) I45V probably damaging Het
Or4c122 A G 2: 89,079,414 (GRCm39) I208T possibly damaging Het
Or6c5c T A 10: 129,298,909 (GRCm39) Y121* probably null Het
Or8k30 T A 2: 86,339,727 (GRCm39) I308K possibly damaging Het
Phf14 A G 6: 11,997,019 (GRCm39) probably benign Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Prdm2 T C 4: 142,862,258 (GRCm39) E344G probably benign Het
Psmd12 T C 11: 107,376,547 (GRCm39) V61A probably benign Het
Relt T C 7: 100,496,712 (GRCm39) D385G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scg2 T A 1: 79,413,266 (GRCm39) I446F probably benign Het
Sema3b G A 9: 107,478,165 (GRCm39) L407F probably damaging Het
Slc25a13 A T 6: 6,042,600 (GRCm39) Y601* probably null Het
Sun5 C T 2: 153,700,885 (GRCm39) V270I probably benign Het
Tex52 A G 6: 128,356,496 (GRCm39) Y63C probably damaging Het
Tmem138 A G 19: 10,552,186 (GRCm39) probably benign Het
Tnpo3 A G 6: 29,582,163 (GRCm39) probably null Het
Tspoap1 A T 11: 87,657,280 (GRCm39) Q364L probably damaging Het
Ttc41 T C 10: 86,599,811 (GRCm39) L1037P probably damaging Het
Ugcg T A 4: 59,220,387 (GRCm39) D393E possibly damaging Het
Vmn1r184 T C 7: 25,967,076 (GRCm39) I274T probably benign Het
Vmn2r27 A G 6: 124,200,871 (GRCm39) V362A probably benign Het
Vmn2r87 T A 10: 130,307,712 (GRCm39) Y842F probably benign Het
Vps8 T A 16: 21,325,575 (GRCm39) probably benign Het
Other mutations in Crabp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Crabp2 APN 3 87,859,506 (GRCm39) missense probably damaging 1.00
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
R3161:Crabp2 UTSW 3 87,859,484 (GRCm39) nonsense probably null
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'- TTGATCCCCAGCAATGATGCCC -3'
(R):5'- AGACAGTCTCTTCCAGGAAGGACC -3'

Sequencing Primer
(F):5'- ATGCCCCGGCATCCTTG -3'
(R):5'- CAGGAAGGACCCTGGTGTG -3'
Posted On 2013-04-24