Mutagenetix > Incidental Mutation

Incidental Mutation 'R8941:Rbp3'

681005

Institutional Source

Beutler Lab

Gene Symbol

Rbp3

Ensembl Gene

ENSMUSG00000041534

Gene Name

retinol binding protein 3, interstitial

Synonyms

Irbp, Rbp-3

MMRRC Submission

068781-MU

Accession Numbers

Essential gene?

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

Stock #

R8941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33675960-33686173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33678486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 811 (F811L)

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: F811L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: F811L

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,679 (GRCm39)	T103S	probably benign	Het
Aadacl2fm3	A	G	3: 59,784,400 (GRCm39)	Y291C	probably damaging	Het
Aass	A	T	6: 23,075,261 (GRCm39)		probably benign	Het
Adgrb3	A	T	1: 25,133,235 (GRCm39)	C1284S	probably damaging	Het
Adora2a	G	A	10: 75,169,559 (GRCm39)	W341*	probably null	Het
Afg2a	T	A	3: 37,486,142 (GRCm39)	L288H	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Asic5	A	T	3: 81,913,915 (GRCm39)		probably benign	Het
Canx	T	C	11: 50,195,270 (GRCm39)	D266G	possibly damaging	Het
Cfap57	A	T	4: 118,426,799 (GRCm39)	Y1080N	probably damaging	Het
Chat	C	T	14: 32,130,963 (GRCm39)	M559I	probably benign	Het
Chd5	G	A	4: 152,463,305 (GRCm39)	S1425N	possibly damaging	Het
Cog8	T	C	8: 107,783,202 (GRCm39)	D29G	probably damaging	Het
Cox15	A	G	19: 43,732,172 (GRCm39)	S215P	probably benign	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Dbt	T	C	3: 116,339,698 (GRCm39)	V362A	probably damaging	Het
Dio1	C	A	4: 107,164,147 (GRCm39)	A57S	probably benign	Het
F5	C	A	1: 164,026,440 (GRCm39)	H1671N	probably benign	Het
Gm6309	A	G	5: 146,107,155 (GRCm39)	Y64H	probably damaging	Het
Hipk1	A	G	3: 103,660,743 (GRCm39)	C731R	probably damaging	Het
Hmgcl	G	A	4: 135,683,015 (GRCm39)	A156T	probably damaging	Het
Il15ra	A	T	2: 11,737,995 (GRCm39)	T210S	possibly damaging	Het
Kat8	T	C	7: 127,524,400 (GRCm39)	L426P	probably damaging	Het
Lrrc39	G	T	3: 116,359,496 (GRCm39)	V14L	probably damaging	Het
Lrrc7	T	C	3: 157,869,593 (GRCm39)	M709V	probably benign	Het
Mdm4	T	C	1: 132,919,671 (GRCm39)	H398R	probably benign	Het
Mroh2b	A	T	15: 4,991,606 (GRCm39)	Q1568L	possibly damaging	Het
Myo18b	G	A	5: 113,022,795 (GRCm39)		probably benign	Het
Nr4a3	C	A	4: 48,051,756 (GRCm39)	P170Q	possibly damaging	Het
Ntrk2	A	G	13: 59,208,109 (GRCm39)	M652V	probably damaging	Het
Or10n7-ps1	A	T	9: 39,597,812 (GRCm39)	*143K	probably null	Het
Or5b95	G	A	19: 12,657,471 (GRCm39)		probably benign	Het
Paxbp1	T	C	16: 90,832,815 (GRCm39)	I325V	possibly damaging	Het
Pcare	T	C	17: 72,059,137 (GRCm39)	H180R	probably benign	Het
Pi4ka	G	T	16: 17,114,807 (GRCm39)		probably benign	Het
Pira13	A	G	7: 3,825,380 (GRCm39)	S421P	probably damaging	Het
Pou6f1	T	A	15: 100,489,742 (GRCm39)	D74V	probably damaging	Het
Prpsap2	C	A	11: 61,627,870 (GRCm39)	R202L	probably damaging	Het
Ptprn	A	T	1: 75,228,407 (GRCm39)	L890Q	probably damaging	Het
Ramp1	C	G	1: 91,134,137 (GRCm39)	P97A	probably benign	Het
Rapgefl1	A	G	11: 98,731,101 (GRCm39)	D179G	probably damaging	Het
Rnf213	C	A	11: 119,305,250 (GRCm39)	L494M	probably damaging	Het
Rpl4	A	G	9: 64,082,245 (GRCm39)	N48S	probably benign	Het
Rsbn1l	A	G	5: 21,110,841 (GRCm39)	V499A	probably damaging	Het
Sacs	A	G	14: 61,430,022 (GRCm39)	T691A	probably benign	Het
Sass6	T	C	3: 116,407,709 (GRCm39)	V275A	probably benign	Het
Sdcbp	T	C	4: 6,393,661 (GRCm39)	S259P	probably benign	Het
Sephs2	A	G	7: 126,872,206 (GRCm39)	F296L	probably benign	Het
Slc12a4	C	T	8: 106,673,322 (GRCm39)		probably null	Het
Snrk	G	A	9: 121,989,597 (GRCm39)	V314I	probably benign	Het
Tas1r3	C	T	4: 155,947,600 (GRCm39)		probably null	Het
Tle3	T	A	9: 61,320,195 (GRCm39)	V560E	probably damaging	Het
Trdmt1	A	G	2: 13,526,918 (GRCm39)	Y144H	probably benign	Het
Trim42	T	C	9: 97,245,100 (GRCm39)	T567A	probably benign	Het
Tsbp1	A	C	17: 34,678,973 (GRCm39)	R228S	possibly damaging	Het
Tuba4a	T	C	1: 75,193,945 (GRCm39)	D74G	probably benign	Het
Ube3c	G	A	5: 29,842,769 (GRCm39)		probably null	Het
Vwa3a	A	G	7: 120,375,311 (GRCm39)	D375G	probably benign	Het
Zfp729b	A	G	13: 67,741,218 (GRCm39)	M349T	possibly damaging	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
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
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'- AAAACGGATGTGCTACCCGG -3'
(R):5'- TGTGGGCTCTCCTATAACGGTG -3'

Sequencing Primer
(F):5'- TTGACGCCATGGCTGAGCTAG -3'
(R):5'- GTGGCCCGCTGTAGGTC -3'

Posted On

2021-08-31