Incidental Mutation 'R7654:Rbp3'
ID 591091
Institutional Source Beutler Lab
Gene Symbol Rbp3
Ensembl Gene ENSMUSG00000041534
Gene Name retinol binding protein 3, interstitial
Synonyms Irbp, Rbp-3
MMRRC Submission 045702-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R7654 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 33675960-33686173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33677797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 582 (S582P)
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: S582P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: S582P

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: 98.9%
Validation Efficiency 100% (76/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,815,032 (GRCm39) V1140M possibly damaging Het
Adamtsl3 A C 7: 82,223,702 (GRCm39) E1161A probably benign Het
Adcy5 T C 16: 35,091,317 (GRCm39) S587P probably damaging Het
Aebp2 T A 6: 140,599,474 (GRCm39) probably null Het
Alb G C 5: 90,615,214 (GRCm39) R242P probably damaging Het
Ankhd1 T C 18: 36,727,154 (GRCm39) V423A probably damaging Het
Arid1b T A 17: 5,341,360 (GRCm39) M888K possibly damaging Het
Asl C A 5: 130,047,231 (GRCm39) R122S probably damaging Het
B3gntl1 T A 11: 121,542,439 (GRCm39) D109V probably damaging Het
Cat G A 2: 103,290,709 (GRCm39) P402S probably damaging Het
Ccdc141 A T 2: 76,872,822 (GRCm39) Y787N probably benign Het
Ccdc78 T C 17: 26,009,085 (GRCm39) Y405H probably damaging Het
Ces1f T G 8: 93,998,562 (GRCm39) K145Q probably benign Het
Cfap65 A T 1: 74,972,303 (GRCm39) C19S probably benign Het
CN725425 T A 15: 91,123,638 (GRCm39) I118N probably benign Het
Ctc1 C T 11: 68,917,041 (GRCm39) P312S probably damaging Het
Ctsa C T 2: 164,680,853 (GRCm39) T442I probably benign Het
Cyp2b9 A G 7: 25,886,367 (GRCm39) T131A possibly damaging Het
D630045J12Rik A G 6: 38,154,636 (GRCm39) M1181T probably damaging Het
Dagla C G 19: 10,225,570 (GRCm39) G865R probably benign Het
Dst A C 1: 34,268,058 (GRCm39) K3153Q probably damaging Het
Dst A T 1: 34,268,059 (GRCm39) K3153M probably damaging Het
Dync2h1 A T 9: 7,122,664 (GRCm39) H2097Q probably damaging Het
Etnppl A G 3: 130,423,160 (GRCm39) I286M probably benign Het
Flvcr1 A T 1: 190,743,802 (GRCm39) M418K possibly damaging Het
Fuca1 T C 4: 135,657,232 (GRCm39) S215P probably damaging Het
Gabrg1 T C 5: 70,935,504 (GRCm39) K222E probably benign Het
Gdpd5 G A 7: 99,073,396 (GRCm39) R26H probably damaging Het
Gnptab T A 10: 88,281,681 (GRCm39) S1229R possibly damaging Het
Gpt A G 15: 76,582,530 (GRCm39) E256G probably benign Het
Hif3a C T 7: 16,783,021 (GRCm39) V261I probably damaging Het
Hmcn2 A G 2: 31,236,581 (GRCm39) T375A probably benign Het
Hspa4 C A 11: 53,190,951 (GRCm39) V15F probably damaging Het
Il18 A G 9: 50,490,701 (GRCm39) N112S possibly damaging Het
Inpp4a A G 1: 37,413,179 (GRCm39) probably null Het
Knop1 A G 7: 118,445,032 (GRCm39) S525P unknown Het
Leo1 A T 9: 75,362,961 (GRCm39) Y461F possibly damaging Het
Med1 C T 11: 98,060,189 (GRCm39) V247I possibly damaging Het
Mpnd T G 17: 56,317,489 (GRCm39) H159Q probably benign Het
Msl1 A G 11: 98,686,937 (GRCm39) E94G possibly damaging Het
Mthfd2l A T 5: 91,094,665 (GRCm39) I45F probably damaging Het
Neurl1b T A 17: 26,657,671 (GRCm39) L203Q probably benign Het
Or5m12 G T 2: 85,734,663 (GRCm39) T245N possibly damaging Het
Otoa T G 7: 120,746,923 (GRCm39) L896R probably damaging Het
Pcdhac2 T A 18: 37,278,076 (GRCm39) V352E probably damaging Het
Pcsk5 T A 19: 17,434,168 (GRCm39) K1400I possibly damaging Het
Pcx T A 19: 4,565,697 (GRCm39) probably null Het
Pds5a A G 5: 65,776,324 (GRCm39) V90A probably damaging Het
Pgam2 T C 11: 5,753,351 (GRCm39) K113R probably null Het
Phkb G T 8: 86,667,516 (GRCm39) R266L possibly damaging Het
Phtf2 A G 5: 20,987,459 (GRCm39) S346P probably damaging Het
Pkd1l3 G A 8: 110,365,049 (GRCm39) A1144T probably damaging Het
Plbd1 T C 6: 136,628,864 (GRCm39) Y68C possibly damaging Het
Polk T C 13: 96,633,321 (GRCm39) T241A probably benign Het
Ppfibp2 T A 7: 107,337,818 (GRCm39) D635E probably damaging Het
Ppip5k1 G A 2: 121,179,040 (GRCm39) R229W probably damaging Het
Ptpn20 A G 14: 33,360,281 (GRCm39) D386G probably benign Het
Rab22a T C 2: 173,529,968 (GRCm39) Y49H probably benign Het
Rab3gap1 A G 1: 127,837,652 (GRCm39) D238G probably damaging Het
Rcbtb2 T C 14: 73,411,941 (GRCm39) V410A probably benign Het
Sh3rf2 A G 18: 42,237,173 (GRCm39) E232G probably damaging Het
Shroom1 T A 11: 53,357,735 (GRCm39) V762E probably benign Het
Speer4f2 A T 5: 17,579,413 (GRCm39) M71L Het
Sprr2b CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC 3: 92,224,826 (GRCm39) probably benign Het
Tgfb1 A T 7: 25,387,120 (GRCm39) probably benign Het
Tnik C T 3: 28,658,334 (GRCm39) R540C probably damaging Het
Tti1 A T 2: 157,850,474 (GRCm39) I255N probably benign Het
Ttn T C 2: 76,727,490 (GRCm39) S5739G unknown Het
Umad1 G A 6: 8,426,995 (GRCm39) V57M probably damaging Het
Usp30 T A 5: 114,240,506 (GRCm39) I49N probably damaging Het
Usp7 G A 16: 8,519,907 (GRCm39) T398I probably benign Het
Vmn2r65 A G 7: 84,590,261 (GRCm39) Y552H probably damaging Het
Zfp616 A G 11: 73,974,013 (GRCm39) N185S possibly damaging Het
Zfp804b T A 5: 6,819,458 (GRCm39) T1202S probably damaging Het
Zfyve28 A T 5: 34,400,539 (GRCm39) V53D 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
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
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'- CCAACGCTATGGTAACCAGC -3'
(R):5'- CTTAGATTGCAGGAGAGCTCTG -3'

Sequencing Primer
(F):5'- TAACCAGCGTGGAGTGTACCTG -3'
(R):5'- ATCTCTGGCCGGGCATAGTG -3'
Posted On 2019-11-12