Incidental Mutation 'R5468:Rbp3'
ID 433371
Institutional Source Beutler Lab
Gene Symbol Rbp3
Ensembl Gene ENSMUSG00000041534
Gene Name retinol binding protein 3, interstitial
Synonyms Irbp, Rbp-3
MMRRC Submission 043029-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R5468 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 33675960-33686173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33678584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 844 (H844L)
Ref Sequence ENSEMBL: ENSMUSP00000040249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035695]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000035695
AA Change: H844L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: H844L

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: 98.2%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.0%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik C T 7: 44,009,659 (GRCm39) R181Q probably damaging Het
Abca13 T A 11: 9,244,062 (GRCm39) L1975Q probably damaging Het
Acp2 T A 2: 91,036,443 (GRCm39) I180N probably benign Het
Adam12 T C 7: 133,577,202 (GRCm39) D221G probably damaging Het
Adamts4 A G 1: 171,080,178 (GRCm39) T244A probably benign Het
Adrb2 A T 18: 62,312,696 (GRCm39) I43N probably damaging Het
Anxa1 A T 19: 20,355,847 (GRCm39) Y207N probably damaging Het
Apba2 T C 7: 64,395,510 (GRCm39) L662P probably damaging Het
Arhgap18 T A 10: 26,788,667 (GRCm39) I593K probably damaging Het
Arsj T C 3: 126,232,037 (GRCm39) V261A possibly damaging Het
Atp7b A T 8: 22,549,986 (GRCm39) probably null Het
C2cd2 C T 16: 97,669,791 (GRCm39) probably null Het
Cenpf A T 1: 189,384,568 (GRCm39) S2571T probably damaging Het
Cep162 A C 9: 87,109,290 (GRCm39) L438V probably benign Het
Cfap74 A T 4: 155,510,498 (GRCm39) N361I probably benign Het
Cntn5 A G 9: 9,743,633 (GRCm39) I548T probably damaging Het
Cracd A T 5: 76,988,610 (GRCm39) probably benign Het
Dglucy A G 12: 100,816,594 (GRCm39) N382S probably benign Het
Dnah10 C A 5: 124,907,557 (GRCm39) N4306K probably damaging Het
Fam181a A T 12: 103,282,937 (GRCm39) M281L probably benign Het
Fam186b A G 15: 99,176,751 (GRCm39) I713T possibly damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fry A T 5: 150,323,053 (GRCm39) Y1068F probably benign Het
Fubp3 A G 2: 31,493,247 (GRCm39) I231V probably benign Het
Gbf1 A G 19: 46,272,735 (GRCm39) D1681G possibly damaging Het
Gm10999 G A 8: 129,858,130 (GRCm39) P5S probably damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Impg1 T C 9: 80,347,318 (GRCm39) I9V probably benign Het
Lama4 A G 10: 38,948,678 (GRCm39) probably null Het
Lamc1 A G 1: 153,109,310 (GRCm39) S1161P probably damaging Het
Lipm T A 19: 34,086,954 (GRCm39) probably null Het
Lrrc7 G T 3: 158,024,073 (GRCm39) N107K probably damaging Het
Lypd8 T C 11: 58,277,586 (GRCm39) S123P probably damaging Het
Man2a2 T C 7: 80,002,729 (GRCm39) D1084G probably damaging Het
Man2b2 A G 5: 36,964,519 (GRCm39) S1000P probably benign Het
Ms4a7 C T 19: 11,299,778 (GRCm39) C71Y probably benign Het
Mtus1 A G 8: 41,537,615 (GRCm39) S34P probably benign Het
Myo3b A G 2: 70,064,785 (GRCm39) N406S probably benign Het
Nbr1 A T 11: 101,463,290 (GRCm39) M586L probably benign Het
Nfatc1 C T 18: 80,693,070 (GRCm39) R677H probably benign Het
Nlrc3 A C 16: 3,781,899 (GRCm39) S503R probably damaging Het
Nlrp9c A T 7: 26,064,425 (GRCm39) F968I probably benign Het
Onecut1 A T 9: 74,770,614 (GRCm39) T346S probably damaging Het
Or1j12 A T 2: 36,343,455 (GRCm39) N286I probably damaging Het
Or8b35 G A 9: 37,904,307 (GRCm39) C168Y probably damaging Het
Or8g32 A G 9: 39,305,257 (GRCm39) N57D probably benign Het
Pclo A T 5: 14,730,966 (GRCm39) K3156M unknown Het
Pigo C T 4: 43,024,562 (GRCm39) probably null Het
Plcb4 T C 2: 135,809,072 (GRCm39) F580S probably damaging Het
Plekhm2 G T 4: 141,355,411 (GRCm39) P879H probably damaging Het
Ppm1e T A 11: 87,121,716 (GRCm39) Y747F probably benign Het
Ppwd1 A G 13: 104,361,952 (GRCm39) F69L possibly damaging Het
Prss27 C A 17: 24,257,287 (GRCm39) Q3K possibly damaging Het
Prss29 T A 17: 25,540,020 (GRCm39) N139K possibly damaging Het
Qrich2 T A 11: 116,339,191 (GRCm39) T1777S probably damaging Het
Rubcnl G A 14: 75,269,471 (GRCm39) C43Y possibly damaging Het
Sec14l5 A G 16: 4,985,004 (GRCm39) probably null Het
Sepsecs A T 5: 52,801,356 (GRCm39) N435K probably damaging Het
Sfrp1 A G 8: 23,936,226 (GRCm39) K223E probably benign Het
Sh3tc2 G A 18: 62,106,502 (GRCm39) probably null Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Tmprss7 A G 16: 45,476,811 (GRCm39) F817S probably damaging Het
Tril T C 6: 53,796,632 (GRCm39) N197D probably damaging Het
Tspan18 T C 2: 93,040,207 (GRCm39) T183A probably benign Het
Uroc1 A T 6: 90,315,586 (GRCm39) M156L probably benign Het
Wnt16 T C 6: 22,291,160 (GRCm39) V196A probably benign Het
Xpnpep1 A G 19: 52,983,950 (GRCm39) Y592H probably benign Het
Zfp553 T C 7: 126,836,202 (GRCm39) S586P probably benign Het
Zfp619 C T 7: 39,185,152 (GRCm39) A394V unknown Het
Zfp985 A G 4: 147,667,702 (GRCm39) Y190C probably benign Het
Zmynd10 T A 9: 107,427,536 (GRCm39) D309E probably benign Het
Zmynd15 T C 11: 70,352,646 (GRCm39) L73P 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
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'- TACAACCCTGGCAGCTACTC -3'
(R):5'- CACAGTGATGTCAGGTTCCAC -3'

Sequencing Primer
(F):5'- AACCCTGGCAGCTACTCTTCTG -3'
(R):5'- GGTTCCACACCAGCCAAGTC -3'
Posted On 2016-10-06