Incidental Mutation 'R1985:Rbp3'
ID 220535
Institutional Source Beutler Lab
Gene Symbol Rbp3
Ensembl Gene ENSMUSG00000041534
Gene Name retinol binding protein 3, interstitial
Synonyms Irbp, Rbp-3
MMRRC Submission 039997-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R1985 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 33675960-33686173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33677975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 641 (T641M)
Ref Sequence ENSEMBL: ENSMUSP00000040249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035695]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035695
AA Change: T641M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: T641M

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 94% (76/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 C A 8: 71,916,157 (GRCm39) probably benign Het
Adam5 A T 8: 25,236,755 (GRCm39) D648E probably benign Het
Akr1d1 A G 6: 37,535,336 (GRCm39) D240G probably damaging Het
Ankmy2 A G 12: 36,207,363 (GRCm39) H3R possibly damaging Het
Anpep A C 7: 79,490,605 (GRCm39) probably null Het
Apobr A G 7: 126,186,903 (GRCm39) T20A possibly damaging Het
Atp2a2 A T 5: 122,604,899 (GRCm39) Y427N probably benign Het
Camkk2 A C 5: 122,902,190 (GRCm39) S40A possibly damaging Het
Camp T C 9: 109,677,497 (GRCm39) N112S probably benign Het
Cbx7 A G 15: 79,802,591 (GRCm39) S229P probably damaging Het
Cnot2 T C 10: 116,363,781 (GRCm39) N41S probably damaging Het
Dchs1 A G 7: 105,421,605 (GRCm39) F272L possibly damaging Het
Dct T C 14: 118,273,954 (GRCm39) K318E probably benign Het
Dhrs11 A C 11: 84,719,633 (GRCm39) L31V probably damaging Het
Dnah7a T C 1: 53,543,093 (GRCm39) D2359G probably benign Het
Dnajc7 A G 11: 100,481,718 (GRCm39) S305P probably benign Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Flnc A G 6: 29,444,415 (GRCm39) probably benign Het
Garin3 T C 11: 46,298,693 (GRCm39) *666Q probably null Het
Gm7535 A G 17: 18,131,800 (GRCm39) probably benign Het
Grtp1 A G 8: 13,229,376 (GRCm39) F313L probably damaging Het
Haus6 T C 4: 86,511,846 (GRCm39) Y425C possibly damaging Het
Hdac1 T A 4: 129,422,753 (GRCm39) N83Y possibly damaging Het
Hdlbp A G 1: 93,358,840 (GRCm39) I237T probably damaging Het
Hfm1 A T 5: 107,046,442 (GRCm39) D481E probably damaging Het
Hipk3 T C 2: 104,264,780 (GRCm39) I737V probably benign Het
Il23r T A 6: 67,467,652 (GRCm39) probably null Het
Il24 G A 1: 130,810,268 (GRCm39) T196I probably benign Het
Ints3 C T 3: 90,307,610 (GRCm39) probably null Het
Kcna6 T C 6: 126,715,473 (GRCm39) E472G probably benign Het
Kcnj16 C T 11: 110,916,409 (GRCm39) T357M probably benign Het
Kdm4b T A 17: 56,708,302 (GRCm39) V957E probably damaging Het
Kif21b G A 1: 136,075,284 (GRCm39) D166N probably damaging Het
Klhl11 G T 11: 100,354,070 (GRCm39) Q584K probably benign Het
Krt9 A T 11: 100,080,817 (GRCm39) M345K probably benign Het
Lgr5 T C 10: 115,331,150 (GRCm39) probably benign Het
Lilrb4b A T 10: 51,357,831 (GRCm39) Q80L possibly damaging Het
Lrrc69 T C 4: 14,708,669 (GRCm39) E225G possibly damaging Het
Ly9 A G 1: 171,427,341 (GRCm39) S405P probably damaging Het
Myh2 A G 11: 67,071,740 (GRCm39) D519G possibly damaging Het
Nav3 G A 10: 109,606,045 (GRCm39) probably benign Het
Nfkb1 G A 3: 135,321,110 (GRCm39) T215I possibly damaging Het
Ninj2 A T 6: 120,175,600 (GRCm39) probably benign Het
Obsl1 A G 1: 75,482,244 (GRCm39) C209R probably damaging Het
Or13a25 G A 7: 140,247,734 (GRCm39) C171Y probably damaging Het
Or2d4 A G 7: 106,544,133 (GRCm39) I25T probably benign Het
Or2j6 A T 7: 139,980,713 (GRCm39) M82K possibly damaging Het
Or2t44 A C 11: 58,677,210 (GRCm39) D50A probably damaging Het
Or2y1g T C 11: 49,171,110 (GRCm39) I45T probably damaging Het
Or52z14 A T 7: 103,252,879 (GRCm39) Y6F probably benign Het
Otud4 G C 8: 80,366,641 (GRCm39) R36P probably damaging Het
Pcnt C T 10: 76,216,171 (GRCm39) R2239H possibly damaging Het
Pgbd5 T A 8: 125,097,331 (GRCm39) M491L probably benign Het
Pitrm1 A T 13: 6,608,220 (GRCm39) D316V probably damaging Het
Plod3 A G 5: 137,019,707 (GRCm39) probably null Het
Plppr3 A T 10: 79,703,294 (GRCm39) Y63* probably null Het
Pramel52-ps A T 5: 94,531,931 (GRCm39) I272L probably benign Het
Prickle2 T C 6: 92,388,433 (GRCm39) D323G probably damaging Het
Psmd11 A T 11: 80,336,089 (GRCm39) I114F probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rfxap C A 3: 54,714,747 (GRCm39) R117L probably damaging Het
Rims2 T A 15: 39,208,710 (GRCm39) M171K probably damaging Het
Scin A G 12: 40,183,907 (GRCm39) probably null Het
Scn11a A G 9: 119,583,744 (GRCm39) S1624P probably benign Het
Slc41a3 G A 6: 90,619,210 (GRCm39) V330M probably damaging Het
Slc9c1 A G 16: 45,370,469 (GRCm39) I237V probably benign Het
Spag6 A G 2: 18,736,930 (GRCm39) I218V probably benign Het
Stam2 T C 2: 52,599,638 (GRCm39) T257A possibly damaging Het
Tbc1d24 G A 17: 24,426,938 (GRCm39) R318* probably null Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Trpm3 T A 19: 22,903,446 (GRCm39) Y1069N possibly damaging Het
Tuba8 A G 6: 121,197,479 (GRCm39) D47G probably benign Het
Tulp3 A T 6: 128,303,769 (GRCm39) S277T probably benign Het
Uqcc6 T A 10: 82,456,051 (GRCm39) T37S possibly damaging Het
Wdr7 GTT GT 18: 63,893,654 (GRCm39) probably null Het
Ybx2 A G 11: 69,827,294 (GRCm39) probably null Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp788 T A 7: 41,299,905 (GRCm39) I795N 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
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
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'- TGCCGAAGAGTTTGCCTTCC -3'
(R):5'- TCCCCAGGGCTATGGAATAC -3'

Sequencing Primer
(F):5'- GAAGAGTTTGCCTTCCTCATGCAG -3'
(R):5'- TGGAATACCAGCAGGCGGTG -3'
Posted On 2014-08-25