Mutagenetix > Incidental Mutation

Incidental Mutation 'R4971:Rbp3'

384467

Institutional Source

Beutler Lab

Gene Symbol

Rbp3

Ensembl Gene

ENSMUSG00000041534

Gene Name

retinol binding protein 3, interstitial

Synonyms

Irbp, Rbp-3

MMRRC Submission

042566-MU

Accession Numbers

Essential gene?

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

Stock #

R4971 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33675960-33686173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33676427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 125 (V125D)

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: V125D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: V125D

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,524,190 (GRCm39)	F1147L	probably damaging	Het
Abca2	T	C	2: 25,332,006 (GRCm39)	S1373P	probably damaging	Het
Abca9	A	T	11: 110,042,874 (GRCm39)	S392T	probably benign	Het
Abcd2	T	C	15: 91,047,313 (GRCm39)	D580G	probably benign	Het
Actl9	T	A	17: 33,652,882 (GRCm39)	L314H	probably damaging	Het
Adamtsl1	T	C	4: 86,255,168 (GRCm39)	F746L	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Cdkl3	T	C	11: 51,901,995 (GRCm39)	V68A	possibly damaging	Het
Cnot1	A	G	8: 96,448,254 (GRCm39)	F2266S	probably damaging	Het
Colq	T	C	14: 31,267,034 (GRCm39)	R159G	probably damaging	Het
Ctse	A	T	1: 131,592,130 (GRCm39)	D152V	probably damaging	Het
Cul7	G	T	17: 46,970,045 (GRCm39)	M1011I	probably benign	Het
Cyb5r4	G	T	9: 86,939,224 (GRCm39)	V336L	possibly damaging	Het
Dync2h1	A	T	9: 7,131,949 (GRCm39)	H1619Q	probably benign	Het
Eif2ak1	A	G	5: 143,818,986 (GRCm39)	K216E	probably damaging	Het
F5	A	T	1: 164,021,755 (GRCm39)	H1410L	probably benign	Het
Frem2	T	C	3: 53,446,604 (GRCm39)	Y2388C	probably damaging	Het
Fsip2	C	T	2: 82,816,222 (GRCm39)	T3985M	probably benign	Het
Gak	T	C	5: 108,744,672 (GRCm39)	Y535C	probably damaging	Het
Gzmc	G	T	14: 56,469,826 (GRCm39)	P158Q	probably damaging	Het
Hook3	A	G	8: 26,572,607 (GRCm39)	Y135H	probably benign	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Ing4	A	T	6: 125,020,961 (GRCm39)	M28L	probably benign	Het
Irs3	T	A	5: 137,642,754 (GRCm39)	D228V	probably damaging	Het
Jade1	T	A	3: 41,555,836 (GRCm39)	I301N	probably damaging	Het
Kif13b	T	A	14: 64,995,011 (GRCm39)	M921K	possibly damaging	Het
Kmt2c	A	G	5: 25,515,870 (GRCm39)	S2658P	probably benign	Het
Map3k4	A	G	17: 12,468,382 (GRCm39)		probably null	Het
Map4k5	C	T	12: 69,899,493 (GRCm39)	V53I	possibly damaging	Het
Mdn1	T	C	4: 32,739,827 (GRCm39)	S3694P	probably damaging	Het
Mroh7	A	G	4: 106,548,749 (GRCm39)	V1038A	probably benign	Het
Muc5ac	T	C	7: 141,370,015 (GRCm39)	V3185A	possibly damaging	Het
Mup5	T	A	4: 61,751,297 (GRCm39)	N117I	probably benign	Het
Myo19	T	A	11: 84,783,023 (GRCm39)	M179K	probably damaging	Het
Myo1c	A	G	11: 75,562,414 (GRCm39)	Y902C	probably damaging	Het
Nf1	T	A	11: 79,335,469 (GRCm39)	I977K	probably damaging	Het
Nos1	T	C	5: 118,081,899 (GRCm39)	V1240A	probably benign	Het
Nr3c1	T	C	18: 39,619,930 (GRCm39)	D119G	probably damaging	Het
Oga	C	A	19: 45,758,485 (GRCm39)		probably null	Het
Or4c107	A	T	2: 88,788,863 (GRCm39)	N18Y	probably damaging	Het
Pdlim2	A	G	14: 70,405,208 (GRCm39)	V219A	probably damaging	Het
Pira13	T	A	7: 3,825,805 (GRCm39)	M355L	probably benign	Het
Polr1g	T	C	7: 19,091,487 (GRCm39)	N207D	probably benign	Het
Prdx1	T	C	4: 116,549,128 (GRCm39)		probably null	Het
Rbfox1	C	T	16: 7,111,952 (GRCm39)	R173C	probably damaging	Het
Resf1	T	C	6: 149,227,097 (GRCm39)		probably benign	Het
Rhot1	T	A	11: 80,124,300 (GRCm39)	I154K	probably damaging	Het
Runx1t1	C	T	4: 13,837,978 (GRCm39)	R129C	probably damaging	Het
Setbp1	A	G	18: 78,901,382 (GRCm39)	S762P	probably benign	Het
Slc13a3	A	G	2: 165,290,619 (GRCm39)	I67T	probably damaging	Het
Tbc1d2b	A	T	9: 90,100,923 (GRCm39)	M689K	probably benign	Het
Top2a	T	C	11: 98,884,667 (GRCm39)	Y1517C	probably damaging	Het
Txndc2	A	T	17: 65,945,849 (GRCm39)	N109K	probably damaging	Het
Tyk2	A	G	9: 21,031,797 (GRCm39)		probably null	Het
Wdfy3	A	T	5: 102,096,838 (GRCm39)	L320*	probably null	Het
Zfp456	T	C	13: 67,514,995 (GRCm39)	E237G	probably benign	Het
Zscan10	A	G	17: 23,826,147 (GRCm39)	E103G	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
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'- GTCACGAGATTCTGGGCATCTC -3'
(R):5'- TTCCCAGGGTGCAAGTAAGAG -3'

Sequencing Primer
(F):5'- AGATTCTGGGCATCTCAGACC -3'
(R):5'- CCCAGGGTGCAAGTAAGAGATGAC -3'

Posted On

2016-04-27