Incidental Mutation 'R8986:Rbp7'
ID 684017
Institutional Source Beutler Lab
Gene Symbol Rbp7
Ensembl Gene ENSMUSG00000028996
Gene Name retinol binding protein 7, cellular
Synonyms 1110002J23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8986 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 149534144-149539435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 149537371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 97 (V97I)
Ref Sequence ENSEMBL: ENSMUSP00000030848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030848] [ENSMUST00000148596]
AlphaFold Q9EPC5
Predicted Effect probably benign
Transcript: ENSMUST00000030848
AA Change: V97I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030848
Gene: ENSMUSG00000028996
AA Change: V97I

DomainStartEndE-ValueType
Pfam:Lipocalin 6 134 1.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148596
AA Change: V36I

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119166
Gene: ENSMUSG00000028996
AA Change: V36I

DomainStartEndE-ValueType
Pfam:Lipocalin 2 61 1.1e-6 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the cellular retinol-binding protein (CRBP) family, whose members are required for vitamin A stability and metabolism. The encoded protein binds all-trans-retinol and is structurally similar to other CRBPs; however, it has a lower binding affinity for retinol than other CRBPs. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice have reduced retinyl ester levels in milk and other reductions in retinol and retinyl ester levels in a tissue and time dependent manner. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Adamts10 C T 17: 33,762,668 (GRCm39) A549V probably benign Het
Akap13 T C 7: 75,259,074 (GRCm39) M566T probably benign Het
Alb A G 5: 90,615,225 (GRCm39) T246A probably benign Het
Cyfip1 C T 7: 55,558,140 (GRCm39) R806C probably damaging Het
Cyp11a1 T A 9: 57,925,644 (GRCm39) I195N probably damaging Het
Dclre1a C G 19: 56,526,826 (GRCm39) Q863H Het
Ddx19a A G 8: 111,705,188 (GRCm39) V311A probably benign Het
Dnajc13 A T 9: 104,057,330 (GRCm39) F1557I probably damaging Het
Eml6 T A 11: 29,755,181 (GRCm39) T865S possibly damaging Het
Esrrg T A 1: 187,943,104 (GRCm39) I382K possibly damaging Het
Fam149a G A 8: 45,811,837 (GRCm39) T22M Het
Fam227b A T 2: 125,958,019 (GRCm39) Y249N probably damaging Het
Fanci G A 7: 79,095,472 (GRCm39) V1217I probably benign Het
Fermt2 A G 14: 45,742,023 (GRCm39) Y108H probably benign Het
Gkn1 A T 6: 87,325,160 (GRCm39) V83E probably damaging Het
Glmp T A 3: 88,233,002 (GRCm39) S47T probably benign Het
Greb1 T C 12: 16,734,457 (GRCm39) H1511R probably damaging Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Htra3 A T 5: 35,836,372 (GRCm39) C107S probably damaging Het
Ighv1-58 T C 12: 115,275,835 (GRCm39) Q101R probably benign Het
Ighv6-5 A T 12: 114,380,382 (GRCm39) L45* probably null Het
Igtp T A 11: 58,096,947 (GRCm39) probably null Het
Il1rap T C 16: 26,533,696 (GRCm39) S531P probably damaging Het
Kcnd3 A T 3: 105,367,039 (GRCm39) H303L probably damaging Het
Kcnj3 G T 2: 55,485,039 (GRCm39) S379I probably benign Het
Lrrc36 T C 8: 106,176,093 (GRCm39) S156P possibly damaging Het
Mical3 G T 6: 120,991,822 (GRCm39) D250E Het
Msh3 T C 13: 92,483,334 (GRCm39) T270A probably damaging Het
Myrfl A G 10: 116,658,746 (GRCm39) W404R probably damaging Het
Nol7 T C 13: 43,554,985 (GRCm39) F206S probably damaging Het
Obi1 T C 14: 104,745,418 (GRCm39) H86R probably damaging Het
Or12e13 A T 2: 87,663,655 (GRCm39) I91F possibly damaging Het
Or2ag1 A G 7: 106,473,050 (GRCm39) I134T probably benign Het
Paox A G 7: 139,706,503 (GRCm39) E141G probably benign Het
Plod1 A T 4: 147,997,734 (GRCm39) H658Q probably damaging Het
Pou4f1 T C 14: 104,704,087 (GRCm39) D115G probably damaging Het
Ppp1r26 G T 2: 28,342,802 (GRCm39) E811* probably null Het
Qsox1 C T 1: 155,666,829 (GRCm39) R220K probably damaging Het
Rabgap1l C T 1: 160,085,105 (GRCm39) V781I probably damaging Het
Rad50 T C 11: 53,541,354 (GRCm39) D1294G possibly damaging Het
Rrad C T 8: 105,355,222 (GRCm39) R262Q possibly damaging Het
Sdcbp2 T C 2: 151,429,150 (GRCm39) V183A probably benign Het
Slfn2 C G 11: 82,960,427 (GRCm39) I135M possibly damaging Het
Sntg1 T A 1: 8,484,491 (GRCm39) D443V possibly damaging Het
Tas2r105 G A 6: 131,663,913 (GRCm39) Q172* probably null Het
Tfdp2 A G 9: 96,172,637 (GRCm39) R44G probably damaging Het
Thbd A T 2: 148,248,480 (GRCm39) C463S probably damaging Het
Tnxb T C 17: 34,897,646 (GRCm39) V807A possibly damaging Het
Trim68 T A 7: 102,327,808 (GRCm39) K382* probably null Het
Vmn2r110 T A 17: 20,803,823 (GRCm39) I251F probably damaging Het
Vmn2r61 A T 7: 41,915,325 (GRCm39) R91* probably null Het
Vmn2r-ps117 G A 17: 19,044,943 (GRCm39) W453* probably null Het
Zc3h18 T C 8: 123,134,193 (GRCm39) V553A unknown Het
Zfp609 C T 9: 65,610,561 (GRCm39) A801T possibly damaging Het
Zfp791 A G 8: 85,837,327 (GRCm39) F179S probably benign Het
Zyg11a A T 4: 108,041,628 (GRCm39) probably null Het
Other mutations in Rbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02231:Rbp7 APN 4 149,539,334 (GRCm39) critical splice donor site probably null
R6479:Rbp7 UTSW 4 149,534,347 (GRCm39) missense probably benign
R6520:Rbp7 UTSW 4 149,537,371 (GRCm39) missense possibly damaging 0.75
R8927:Rbp7 UTSW 4 149,537,958 (GRCm39) nonsense probably null
R8928:Rbp7 UTSW 4 149,537,958 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGGGATAGAATATGATCAAAACATACT -3'
(R):5'- GGGAAGATTACTAGCACCTTAGAA -3'

Sequencing Primer
(F):5'- TGCAACTCTAGTTCCAAGGG -3'
(R):5'- AATTCCAAGGACCTCTGTGG -3'
Posted On 2021-10-11