Mutagenetix > Incidental Mutation

Incidental Mutation 'R8176:Rbp3'

634369

Institutional Source

Beutler Lab

Gene Symbol

Rbp3

Ensembl Gene

ENSMUSG00000041534

Gene Name

retinol binding protein 3, interstitial

Synonyms

Irbp, Rbp-3

MMRRC Submission

067601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R8176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33675960-33686173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33677605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 518 (H518N)

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: H518N

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: H518N

Domain	Start	End	E-Value	Type
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% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	T	A	12: 31,235,135 (GRCm39)	F172I	noncoding transcript	Het
Aatk	A	G	11: 119,907,241 (GRCm39)	V154A	probably damaging	Het
Abca6	A	C	11: 110,135,020 (GRCm39)	V255G	probably benign	Het
Adam8	T	C	7: 139,568,786 (GRCm39)	K211E	probably benign	Het
Alg12	A	G	15: 88,690,084 (GRCm39)	V470A	possibly damaging	Het
Anks1b	C	A	10: 89,905,353 (GRCm39)	H231Q	probably damaging	Het
Bcl2	T	C	1: 106,640,528 (GRCm39)	Y28C	probably damaging	Het
Bms1	G	T	6: 118,395,411 (GRCm39)	F45L	probably damaging	Het
Btd	T	A	14: 31,384,073 (GRCm39)	F20I	probably benign	Het
C1rl	T	C	6: 124,470,844 (GRCm39)	S51P	probably benign	Het
Capn7	C	A	14: 31,069,729 (GRCm39)	F184L	probably benign	Het
Cd300lg	A	T	11: 101,932,390 (GRCm39)		probably benign	Het
Cdc34	T	C	10: 79,518,362 (GRCm39)	Y39H	probably damaging	Het
Cenpe	A	G	3: 134,935,851 (GRCm39)	K429E	probably damaging	Het
Cfap43	T	C	19: 47,784,114 (GRCm39)	N473S	probably benign	Het
Cntln	C	T	4: 84,806,926 (GRCm39)	T136I	probably damaging	Het
Cyfip1	A	T	7: 55,574,175 (GRCm39)	L1032F	probably benign	Het
Dach1	C	T	14: 98,153,916 (GRCm39)	V392I	probably benign	Het
Dnah14	C	T	1: 181,484,598 (GRCm39)	S1590L	probably damaging	Het
Dsp	T	C	13: 38,376,786 (GRCm39)	Y1524H	possibly damaging	Het
Dusp13b	T	C	14: 21,797,549 (GRCm39)	I103V	possibly damaging	Het
Eeig1	A	G	2: 32,453,624 (GRCm39)	T158A	probably benign	Het
Efhb	T	C	17: 53,707,874 (GRCm39)	Y763C	probably damaging	Het
Fam117a	G	T	11: 95,227,965 (GRCm39)	R25L	unknown	Het
Fcgbp	T	C	7: 27,791,174 (GRCm39)	S812P	possibly damaging	Het
Fgd5	T	A	6: 91,964,965 (GRCm39)	N399K	probably benign	Het
Foxi3	T	A	6: 70,934,017 (GRCm39)	I168N	probably damaging	Het
Frem2	A	T	3: 53,562,761 (GRCm39)	I582K	possibly damaging	Het
Gm21915	T	A	9: 40,582,266 (GRCm39)	S120T	probably benign	Het
Gtf3c5	A	G	2: 28,460,429 (GRCm39)		probably null	Het
Hecw1	A	T	13: 14,422,286 (GRCm39)		probably null	Het
Hsf2	T	A	10: 57,381,290 (GRCm39)	Y293*	probably null	Het
Ints10	T	A	8: 69,255,603 (GRCm39)	Y198N	probably damaging	Het
Iqgap3	A	G	3: 88,001,957 (GRCm39)	E399G	probably damaging	Het
Itsn1	T	A	16: 91,645,597 (GRCm39)		probably null	Het
Kcnh8	T	C	17: 53,285,122 (GRCm39)	S1031P	probably damaging	Het
Llgl1	A	G	11: 60,597,387 (GRCm39)	T279A	probably benign	Het
Ly6a	C	T	15: 74,868,300 (GRCm39)		probably null	Het
Marchf4	T	C	1: 72,573,998 (GRCm39)	E100G	probably damaging	Het
Mta1	A	G	12: 113,084,456 (GRCm39)	E84G	probably benign	Het
Myh7b	A	G	2: 155,467,886 (GRCm39)	Y808C	probably benign	Het
Ncoa1	A	G	12: 4,317,858 (GRCm39)	V1158A	possibly damaging	Het
Npepps	A	G	11: 97,126,977 (GRCm39)	S428P	probably damaging	Het
Onecut2	A	T	18: 64,473,931 (GRCm39)	T161S	possibly damaging	Het
Or10j27	C	T	1: 172,958,383 (GRCm39)	V134I	probably benign	Het
Or52e19b	G	A	7: 103,033,071 (GRCm39)	T46I	probably benign	Het
Or6c5	T	G	10: 129,074,747 (GRCm39)	M243R	probably benign	Het
Pdp2	A	G	8: 105,321,687 (GRCm39)	D512G	probably damaging	Het
Pex11b	G	T	3: 96,551,027 (GRCm39)	V171L	probably benign	Het
Potefam2	T	C	7: 62,432,783 (GRCm39)		probably null	Het
Ppil3	A	T	1: 58,480,078 (GRCm39)	C32*	probably null	Het
Prune2	T	C	19: 17,095,656 (GRCm39)	Y387H	probably damaging	Het
Rhot2	T	C	17: 26,063,068 (GRCm39)	Y58C	probably damaging	Het
Sec16b	C	A	1: 157,362,981 (GRCm39)	H271N	probably damaging	Het
Sgo2a	A	G	1: 58,056,252 (GRCm39)	D812G	possibly damaging	Het
Skap2	T	C	6: 51,884,878 (GRCm39)	E261G	probably damaging	Het
Spata31d1b	A	G	13: 59,865,117 (GRCm39)	N755S	probably benign	Het
Stat5a	T	A	11: 100,767,689 (GRCm39)	M419K	probably damaging	Het
Tecta	C	T	9: 42,270,465 (GRCm39)	C1281Y	probably damaging	Het
Tm9sf2	T	G	14: 122,374,913 (GRCm39)	S196R	probably benign	Het
Trpm8	A	T	1: 88,292,837 (GRCm39)	H946L	probably benign	Het

Other mutations in Rbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GAAGCAGGTATGGGAGCCTTTG -3'
(R):5'- AAGTACCGGTACTGTGAGCG -3'

Sequencing Primer
(F):5'- TATGGGAGCCTTTGCAGGACAC -3'
(R):5'- GTACTGTGAGCGCCAGG -3'

Posted On

2020-07-13