Incidental Mutation 'R8773:Rbp3'
ID 664559
Institutional Source Beutler Lab
Gene Symbol Rbp3
Ensembl Gene ENSMUSG00000041534
Gene Name retinol binding protein 3, interstitial
Synonyms Irbp, Rbp-3
MMRRC Submission 068627-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R8773 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 33675960-33686173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 33684492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1174 (Q1174K)
Ref Sequence ENSEMBL: ENSMUSP00000040249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035695] [ENSMUST00000166737]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035695
AA Change: Q1174K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: Q1174K

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
Predicted Effect probably benign
Transcript: ENSMUST00000166737
SMART Domains Protein: ENSMUSP00000132436
Gene: ENSMUSG00000044519

DomainStartEndE-ValueType
low complexity region 161 175 N/A INTRINSIC
low complexity region 244 270 N/A INTRINSIC
ZnF_C2H2 272 294 2.89e1 SMART
ZnF_C2H2 314 336 5.06e-2 SMART
Meta Mutation Damage Score 0.0760 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (63/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A T 2: 151,314,062 (GRCm39) S539T possibly damaging Het
Abcc6 C T 7: 45,634,569 (GRCm39) R1136Q probably benign Het
Abhd12b A C 12: 70,213,708 (GRCm39) probably null Het
Agk T G 6: 40,334,050 (GRCm39) V98G possibly damaging Het
Apbb2 A G 5: 66,609,252 (GRCm39) S132P probably damaging Het
Apc2 T C 10: 80,142,046 (GRCm39) S322P probably damaging Het
Armc3 T C 2: 19,293,667 (GRCm39) V486A probably benign Het
Asxl2 A G 12: 3,507,200 (GRCm39) K131E probably damaging Het
Atp13a4 A G 16: 29,260,398 (GRCm39) V560A Het
Bnc1 C T 7: 81,623,719 (GRCm39) G503S probably damaging Het
Bsn C A 9: 107,987,704 (GRCm39) V2683F unknown Het
Btbd7 A T 12: 102,804,241 (GRCm39) N266K probably benign Het
Ccdc121rt2 T C 5: 112,597,681 (GRCm39) V76A probably benign Het
Cdca7l G A 12: 117,839,346 (GRCm39) D350N possibly damaging Het
Cfap251 A G 5: 123,411,913 (GRCm39) D515G probably benign Het
Ciao2a A T 9: 66,045,667 (GRCm39) N145I probably damaging Het
Col6a3 T A 1: 90,696,171 (GRCm39) D3239V unknown Het
Col9a1 T A 1: 24,224,208 (GRCm39) I130N unknown Het
Cr2 A G 1: 194,840,913 (GRCm39) W460R probably damaging Het
Cyb561d2 A G 9: 107,417,583 (GRCm39) F56S probably damaging Het
Dnaaf1 A G 8: 120,302,194 (GRCm39) I32V probably benign Het
Dnah11 T A 12: 117,958,950 (GRCm39) T2978S possibly damaging Het
Dsg2 T A 18: 20,716,056 (GRCm39) D302E probably damaging Het
Faf1 T A 4: 109,699,507 (GRCm39) F351I possibly damaging Het
Gimap8 C A 6: 48,633,545 (GRCm39) Q455K probably benign Het
Hps6 C G 19: 45,994,141 (GRCm39) R693G possibly damaging Het
Irx1 C T 13: 72,107,635 (GRCm39) G349D probably damaging Het
Itga8 C G 2: 12,187,495 (GRCm39) G728A probably damaging Het
Lcat T C 8: 106,666,710 (GRCm39) T271A possibly damaging Het
Mapkapk2 T C 1: 130,983,679 (GRCm39) H308R probably damaging Het
Mast1 A T 8: 85,642,953 (GRCm39) N947K probably damaging Het
Mpeg1 A T 19: 12,440,419 (GRCm39) I626F probably damaging Het
Mrtfa T C 15: 80,902,274 (GRCm39) S349G possibly damaging Het
Myh15 T C 16: 49,015,900 (GRCm39) S1859P possibly damaging Het
Nlrx1 A T 9: 44,167,712 (GRCm39) D728E probably benign Het
Or1j8 A G 2: 36,192,387 (GRCm39) T279A probably benign Het
Or8c19-ps1 G T 9: 38,220,516 (GRCm39) V142F probably benign Het
Pcdhb18 A T 18: 37,624,562 (GRCm39) S631C probably damaging Het
Pcdhga11 C A 18: 37,890,364 (GRCm39) Y457* probably null Het
Pcdhga5 T C 18: 37,829,823 (GRCm39) I757T probably benign Het
Pcgf5 G A 19: 36,389,348 (GRCm39) probably benign Het
Pdf A G 8: 107,775,100 (GRCm39) V44A possibly damaging Het
Pip4p1 T C 14: 51,166,503 (GRCm39) T194A possibly damaging Het
Prtg A T 9: 72,819,583 (GRCm39) *1192L probably null Het
Ptk7 A G 17: 46,877,193 (GRCm39) F955S possibly damaging Het
Rufy1 T C 11: 50,321,796 (GRCm39) D46G possibly damaging Het
Sbf2 A G 7: 109,948,202 (GRCm39) V1216A probably benign Het
Serpina11 A G 12: 103,952,722 (GRCm39) V18A unknown Het
Serpinb6a T A 13: 34,115,543 (GRCm39) N47I probably damaging Het
Shc2 T C 10: 79,456,924 (GRCm39) H564R probably damaging Het
Sirt7 T A 11: 120,514,888 (GRCm39) R115* probably null Het
Slc22a14 A T 9: 119,059,290 (GRCm39) probably benign Het
Stra8 T A 6: 34,912,581 (GRCm39) S331T probably damaging Het
Tm9sf2 A G 14: 122,380,883 (GRCm39) T324A probably benign Het
Tmem268 T C 4: 63,498,530 (GRCm39) S224P probably benign Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Tomm22 C T 15: 79,555,311 (GRCm39) probably benign Het
Top1 A G 2: 160,556,158 (GRCm39) Y539C probably damaging Het
Tpp2 T A 1: 44,009,552 (GRCm39) probably benign Het
Trav3-1 T C 14: 52,818,428 (GRCm39) V34A probably damaging Het
Tspyl5 T C 15: 33,687,238 (GRCm39) N236D possibly damaging Het
Ttc41 A G 10: 86,565,679 (GRCm39) D411G probably benign Het
Vmn1r128 A T 7: 21,083,922 (GRCm39) M209L probably benign Het
Xirp2 T A 2: 67,355,527 (GRCm39) D3429E probably benign Het
Zfp418 A T 7: 7,185,797 (GRCm39) T587S probably benign 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
R8836:Rbp3 UTSW 14 33,680,588 (GRCm39) missense possibly damaging 0.95
R8843:Rbp3 UTSW 14 33,676,522 (GRCm39) missense probably benign
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'- CATCCATCACTGTAGGTGGC -3'
(R):5'- GGGATCCTCAGAGTCTTTAGAC -3'

Sequencing Primer
(F):5'- CGGGGGCTGATTTGACC -3'
(R):5'- AGACTCTGCCTTACCCCCTCAG -3'
Posted On 2021-03-08