Incidental Mutation 'R8843:Rbp3'
ID 674556
Institutional Source Beutler Lab
Gene Symbol Rbp3
Ensembl Gene ENSMUSG00000041534
Gene Name retinol binding protein 3, interstitial
Synonyms Irbp, Rbp-3
MMRRC Submission 068670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R8843 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 33675960-33686173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33676522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 157 (R157G)
Ref Sequence ENSEMBL: ENSMUSP00000040249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035695]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035695
AA Change: R157G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: R157G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
TSPc 109 308 5.72e-69 SMART
TSPc 416 616 1.98e-63 SMART
TSPc 720 917 5.34e-69 SMART
TSPc 1019 1216 2.13e-68 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene experience photoreceptor degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 C G 9: 21,440,331 (GRCm39) Q106E probably benign Het
Abi2 A G 1: 60,492,888 (GRCm39) M387V probably null Het
Adra2c A T 5: 35,437,707 (GRCm39) N160Y probably damaging Het
Ager G A 17: 34,819,716 (GRCm39) R383H probably benign Het
Arhgef28 C T 13: 98,130,557 (GRCm39) R427H probably benign Het
Atl1 T A 12: 69,972,922 (GRCm39) S81T probably damaging Het
Ccdc80 T A 16: 44,947,470 (GRCm39) probably benign Het
Cdh10 T A 15: 19,013,487 (GRCm39) F696I possibly damaging Het
Cdk2ap2 T C 19: 4,147,429 (GRCm39) S2P unknown Het
Cela1 G A 15: 100,580,821 (GRCm39) T145I probably benign Het
Celsr2 A T 3: 108,303,443 (GRCm39) probably benign Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Col22a1 A G 15: 71,878,503 (GRCm39) I218T probably damaging Het
Copb1 T C 7: 113,820,935 (GRCm39) I785V possibly damaging Het
Dnajc16 A T 4: 141,492,002 (GRCm39) V607E possibly damaging Het
Dnali1 A T 4: 124,957,414 (GRCm39) L110Q probably damaging Het
Epn1 A G 7: 5,096,375 (GRCm39) E223G probably benign Het
Erbb3 A G 10: 128,414,325 (GRCm39) L473P possibly damaging Het
Fhip1a A G 3: 85,568,318 (GRCm39) I1067T possibly damaging Het
Gadl1 T A 9: 115,835,569 (GRCm39) D332E probably benign Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Heg1 A G 16: 33,570,863 (GRCm39) S1188G probably null Het
Hipk3 G A 2: 104,268,242 (GRCm39) A575V probably benign Het
Htt T A 5: 35,046,809 (GRCm39) I2375N possibly damaging Het
Klhl24 A T 16: 19,938,980 (GRCm39) K512* probably null Het
Krtdap A T 7: 30,488,952 (GRCm39) Y40F probably damaging Het
Lhx1 A T 11: 84,410,455 (GRCm39) S381T probably benign Het
Lnpep G A 17: 17,773,203 (GRCm39) P655L probably damaging Het
Map6d1 A G 16: 20,055,386 (GRCm39) V150A probably benign Het
Marchf10 A G 11: 105,292,802 (GRCm39) S202P possibly damaging Het
Med1 A C 11: 98,080,102 (GRCm39) L13R possibly damaging Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Myh7 T G 14: 55,212,752 (GRCm39) D1431A probably damaging Het
Myo3b G T 2: 70,088,325 (GRCm39) G863W probably damaging Het
Nat8f1 G T 6: 85,887,907 (GRCm39) Q18K probably benign Het
Ncaph A G 2: 126,950,529 (GRCm39) V576A probably benign Het
Nfkbia T G 12: 55,539,196 (GRCm39) D39A possibly damaging Het
Nrxn2 G T 19: 6,555,057 (GRCm39) G1179C probably damaging Het
Or12k8 A C 2: 36,975,307 (GRCm39) V151G probably damaging Het
P4ha1 A G 10: 59,205,455 (GRCm39) D495G probably damaging Het
Phf20 C T 2: 156,144,843 (GRCm39) A817V probably benign Het
Phlpp2 A T 8: 110,652,431 (GRCm39) I592F probably benign Het
Polq A G 16: 36,832,280 (GRCm39) S7G unknown Het
Ppfia3 G T 7: 44,997,941 (GRCm39) Q729K probably benign Het
Prmt8 A C 6: 127,706,462 (GRCm39) F110V probably damaging Het
Psca A T 15: 74,587,868 (GRCm39) probably null Het
Pus7 G T 5: 23,980,754 (GRCm39) D165E probably benign Het
Raver2 A G 4: 100,994,942 (GRCm39) E555G probably damaging Het
Rb1cc1 G A 1: 6,315,395 (GRCm39) V457M probably damaging Het
Rin3 T G 12: 102,335,857 (GRCm39) H589Q probably benign Het
Scart2 A C 7: 139,828,913 (GRCm39) T191P possibly damaging Het
Sgk2 T A 2: 162,854,890 (GRCm39) S334T probably damaging Het
Sh2d4b T C 14: 40,614,832 (GRCm39) M31V probably benign Het
Slc23a3 G A 1: 75,106,271 (GRCm39) T316I probably damaging Het
Slc5a4b C A 10: 75,910,925 (GRCm39) G304C probably damaging Het
Slc7a14 A G 3: 31,311,759 (GRCm39) V87A probably damaging Het
Slitrk3 A T 3: 72,956,164 (GRCm39) N869K probably benign Het
St8sia6 T C 2: 13,661,896 (GRCm39) R312G possibly damaging Het
Strip2 A T 6: 29,923,968 (GRCm39) E94V probably benign Het
Sycp2 T C 2: 177,990,052 (GRCm39) D1398G probably damaging Het
Syne1 C A 10: 5,143,040 (GRCm39) V114F possibly damaging Het
Syne1 T C 10: 5,280,204 (GRCm39) K1630E probably benign Het
Sytl2 A G 7: 90,025,334 (GRCm39) N441D probably benign Het
Thsd7a A G 6: 12,501,136 (GRCm39) C424R Het
Tln2 T C 9: 67,302,827 (GRCm39) D48G probably damaging Het
Treml1 A G 17: 48,673,852 (GRCm39) T288A probably damaging Het
Ttn T C 2: 76,596,113 (GRCm39) I20267V probably benign Het
Ttn A T 2: 76,679,259 (GRCm39) V10821D unknown Het
Vmn2r111 A C 17: 22,767,011 (GRCm39) S829A probably benign Het
Xcl1 T A 1: 164,763,079 (GRCm39) probably benign Het
Zdhhc23 A T 16: 43,794,227 (GRCm39) V149E probably damaging Het
Zfp273 A T 13: 67,970,387 (GRCm39) I12F possibly damaging Het
Zfp874a A T 13: 67,590,764 (GRCm39) C307S probably damaging Het
Other mutations in Rbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Rbp3 APN 14 33,676,145 (GRCm39) missense possibly damaging 0.82
IGL01643:Rbp3 APN 14 33,678,793 (GRCm39) missense probably benign 0.18
IGL01665:Rbp3 APN 14 33,678,088 (GRCm39) missense probably benign 0.02
IGL01809:Rbp3 APN 14 33,677,257 (GRCm39) missense probably damaging 1.00
IGL01975:Rbp3 APN 14 33,680,602 (GRCm39) missense probably damaging 1.00
IGL02349:Rbp3 APN 14 33,677,676 (GRCm39) missense probably damaging 0.97
IGL02447:Rbp3 APN 14 33,676,460 (GRCm39) missense probably damaging 1.00
IGL03192:Rbp3 APN 14 33,680,540 (GRCm39) missense possibly damaging 0.52
IGL03302:Rbp3 APN 14 33,676,616 (GRCm39) missense probably damaging 0.97
Behagt UTSW 14 33,676,411 (GRCm39) missense probably benign 0.00
jagt UTSW 14 33,678,439 (GRCm39) missense probably damaging 0.97
muntre UTSW 14 33,678,313 (GRCm39) missense possibly damaging 0.95
Rotwild UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
P4717OSA:Rbp3 UTSW 14 33,677,456 (GRCm39) missense probably damaging 0.96
R0234:Rbp3 UTSW 14 33,677,858 (GRCm39) missense probably damaging 0.98
R0234:Rbp3 UTSW 14 33,677,858 (GRCm39) missense probably damaging 0.98
R0432:Rbp3 UTSW 14 33,676,730 (GRCm39) missense probably damaging 1.00
R0469:Rbp3 UTSW 14 33,684,376 (GRCm39) missense possibly damaging 0.95
R0652:Rbp3 UTSW 14 33,680,605 (GRCm39) missense possibly damaging 0.89
R0739:Rbp3 UTSW 14 33,680,604 (GRCm39) missense probably benign 0.28
R0747:Rbp3 UTSW 14 33,678,235 (GRCm39) missense possibly damaging 0.51
R0836:Rbp3 UTSW 14 33,678,595 (GRCm39) missense possibly damaging 0.84
R1102:Rbp3 UTSW 14 33,678,313 (GRCm39) missense possibly damaging 0.95
R1583:Rbp3 UTSW 14 33,676,481 (GRCm39) missense possibly damaging 0.45
R1589:Rbp3 UTSW 14 33,677,749 (GRCm39) missense probably damaging 0.99
R1595:Rbp3 UTSW 14 33,678,155 (GRCm39) missense possibly damaging 0.93
R1720:Rbp3 UTSW 14 33,678,866 (GRCm39) missense probably benign 0.38
R1830:Rbp3 UTSW 14 33,676,601 (GRCm39) missense probably benign 0.31
R1982:Rbp3 UTSW 14 33,676,502 (GRCm39) missense probably damaging 0.99
R1985:Rbp3 UTSW 14 33,678,418 (GRCm39) missense probably benign 0.00
R1985:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2007:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2027:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2100:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2101:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2113:Rbp3 UTSW 14 33,678,014 (GRCm39) missense probably benign 0.00
R2138:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2183:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2248:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2277:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2306:Rbp3 UTSW 14 33,684,520 (GRCm39) missense probably damaging 1.00
R2504:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2696:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2697:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2698:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2920:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2940:Rbp3 UTSW 14 33,677,975 (GRCm39) missense probably damaging 1.00
R2971:Rbp3 UTSW 14 33,676,411 (GRCm39) missense probably benign 0.00
R3111:Rbp3 UTSW 14 33,676,069 (GRCm39) missense probably benign 0.01
R3155:Rbp3 UTSW 14 33,679,071 (GRCm39) missense probably damaging 0.98
R3156:Rbp3 UTSW 14 33,679,071 (GRCm39) missense probably damaging 0.98
R3751:Rbp3 UTSW 14 33,677,969 (GRCm39) missense probably damaging 0.98
R3752:Rbp3 UTSW 14 33,677,969 (GRCm39) missense probably damaging 0.98
R3851:Rbp3 UTSW 14 33,677,464 (GRCm39) missense probably damaging 0.98
R4016:Rbp3 UTSW 14 33,677,347 (GRCm39) missense possibly damaging 0.82
R4276:Rbp3 UTSW 14 33,680,607 (GRCm39) missense probably benign 0.24
R4277:Rbp3 UTSW 14 33,680,607 (GRCm39) missense probably benign 0.24
R4278:Rbp3 UTSW 14 33,680,607 (GRCm39) missense probably benign 0.24
R4382:Rbp3 UTSW 14 33,677,253 (GRCm39) missense probably benign 0.12
R4383:Rbp3 UTSW 14 33,677,253 (GRCm39) missense probably benign 0.12
R4385:Rbp3 UTSW 14 33,677,253 (GRCm39) missense probably benign 0.12
R4625:Rbp3 UTSW 14 33,678,056 (GRCm39) missense probably benign
R4712:Rbp3 UTSW 14 33,682,615 (GRCm39) missense probably damaging 0.97
R4812:Rbp3 UTSW 14 33,676,731 (GRCm39) missense probably damaging 0.99
R4918:Rbp3 UTSW 14 33,677,368 (GRCm39) missense probably damaging 1.00
R4971:Rbp3 UTSW 14 33,676,427 (GRCm39) missense probably damaging 0.98
R5262:Rbp3 UTSW 14 33,676,807 (GRCm39) missense probably damaging 1.00
R5387:Rbp3 UTSW 14 33,678,370 (GRCm39) missense possibly damaging 0.95
R5468:Rbp3 UTSW 14 33,678,584 (GRCm39) missense possibly damaging 0.93
R5837:Rbp3 UTSW 14 33,676,230 (GRCm39) missense probably benign 0.00
R5994:Rbp3 UTSW 14 33,676,857 (GRCm39) missense probably damaging 1.00
R6010:Rbp3 UTSW 14 33,676,604 (GRCm39) missense probably damaging 1.00
R6041:Rbp3 UTSW 14 33,678,439 (GRCm39) missense probably damaging 0.97
R6266:Rbp3 UTSW 14 33,676,418 (GRCm39) missense probably benign
R6357:Rbp3 UTSW 14 33,678,991 (GRCm39) missense probably damaging 0.99
R6457:Rbp3 UTSW 14 33,677,224 (GRCm39) nonsense probably null
R6777:Rbp3 UTSW 14 33,676,230 (GRCm39) missense probably benign 0.00
R7158:Rbp3 UTSW 14 33,677,513 (GRCm39) missense probably benign 0.00
R7183:Rbp3 UTSW 14 33,677,161 (GRCm39) missense probably benign 0.02
R7256:Rbp3 UTSW 14 33,684,540 (GRCm39) missense possibly damaging 0.93
R7654:Rbp3 UTSW 14 33,677,797 (GRCm39) missense probably benign
R7756:Rbp3 UTSW 14 33,676,732 (GRCm39) missense probably benign 0.15
R7758:Rbp3 UTSW 14 33,676,732 (GRCm39) missense probably benign 0.15
R7784:Rbp3 UTSW 14 33,676,115 (GRCm39) missense probably benign 0.41
R7845:Rbp3 UTSW 14 33,678,421 (GRCm39) missense probably benign 0.24
R8176:Rbp3 UTSW 14 33,677,605 (GRCm39) missense possibly damaging 0.67
R8281:Rbp3 UTSW 14 33,678,320 (GRCm39) missense probably benign 0.00
R8393:Rbp3 UTSW 14 33,678,156 (GRCm39) missense possibly damaging 0.93
R8552:Rbp3 UTSW 14 33,677,621 (GRCm39) missense probably benign 0.01
R8717:Rbp3 UTSW 14 33,678,395 (GRCm39) missense probably damaging 0.99
R8730:Rbp3 UTSW 14 33,677,795 (GRCm39) missense probably benign
R8773:Rbp3 UTSW 14 33,684,492 (GRCm39) missense possibly damaging 0.71
R8836:Rbp3 UTSW 14 33,680,588 (GRCm39) missense possibly damaging 0.95
R8880:Rbp3 UTSW 14 33,678,796 (GRCm39) missense probably benign 0.16
R8941:Rbp3 UTSW 14 33,678,486 (GRCm39) missense possibly damaging 0.92
R8971:Rbp3 UTSW 14 33,677,792 (GRCm39) missense probably damaging 1.00
R8998:Rbp3 UTSW 14 33,684,360 (GRCm39) nonsense probably null
R8999:Rbp3 UTSW 14 33,684,360 (GRCm39) nonsense probably null
R9436:Rbp3 UTSW 14 33,677,234 (GRCm39) missense possibly damaging 0.94
R9525:Rbp3 UTSW 14 33,676,402 (GRCm39) missense probably benign 0.00
R9563:Rbp3 UTSW 14 33,677,477 (GRCm39) missense probably damaging 1.00
R9564:Rbp3 UTSW 14 33,677,477 (GRCm39) missense probably damaging 1.00
R9723:Rbp3 UTSW 14 33,677,474 (GRCm39) missense possibly damaging 0.92
Z1177:Rbp3 UTSW 14 33,676,495 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- GAGTTCCTTGAGTGACCCAC -3'
(R):5'- AGGTCCAGATCTCTGTGGTG -3'

Sequencing Primer
(F):5'- CTTGAGTGACCCACGACTC -3'
(R):5'- GGTGTTGGAGGGCCGATC -3'
Posted On 2021-07-15