Mutagenetix > Incidental Mutation

Incidental Mutation 'R1102:Rbp3'

98207

Institutional Source

Beutler Lab

Gene Symbol

Rbp3

Ensembl Gene

ENSMUSG00000041534

Gene Name

retinol binding protein 3, interstitial

Synonyms

Irbp, Rbp-3

MMRRC Submission

039175-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R1102 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33675960-33686173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33678313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 754 (T754A)

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: T754A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: T754A

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

Meta Mutation Damage Score

0.0964

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 88.8%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,211,460 (GRCm39)	T203M	probably damaging	Het
Acy3	C	T	19: 4,037,850 (GRCm39)	T119I	probably damaging	Het
Ccdc6	C	A	10: 70,023,636 (GRCm39)	H400Q	possibly damaging	Het
Ccna1	T	C	3: 54,958,281 (GRCm39)	D134G	probably damaging	Het
Cct2	A	T	10: 116,896,545 (GRCm39)		probably null	Het
Cd36	A	G	5: 18,019,211 (GRCm39)	F170S	possibly damaging	Het
Cep350	G	A	1: 155,807,264 (GRCm39)	P718S	probably damaging	Het
Cimip1	T	A	2: 173,364,516 (GRCm39)	D20E	probably damaging	Het
Ctnna3	A	T	10: 64,421,774 (GRCm39)	I523L	probably benign	Het
Dnah1	G	T	14: 31,018,414 (GRCm39)	Y1405*	probably null	Het
Dnah8	T	A	17: 31,073,738 (GRCm39)		probably null	Het
Drd3	T	C	16: 43,582,846 (GRCm39)	L113S	probably damaging	Het
Emsy	T	C	7: 98,251,796 (GRCm39)	T735A	probably damaging	Het
Epha5	A	G	5: 84,381,434 (GRCm39)		probably benign	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fbxo10	A	G	4: 45,043,672 (GRCm39)	L717P	probably damaging	Het
Galnt10	T	C	11: 57,671,871 (GRCm39)		probably benign	Het
Gle1	T	G	2: 29,834,066 (GRCm39)	I437M	possibly damaging	Het
Gpr137b	T	C	13: 13,539,616 (GRCm39)		probably benign	Het
Gsta1	T	C	9: 78,149,777 (GRCm39)	F197L	probably damaging	Het
Icam1	G	A	9: 20,939,132 (GRCm39)	V502M	possibly damaging	Het
Ido1	T	A	8: 25,083,156 (GRCm39)	I90F	probably damaging	Het
Il4ra	G	A	7: 125,173,889 (GRCm39)		probably null	Het
Med12l	T	A	3: 59,152,257 (GRCm39)	M1014K	probably damaging	Het
Mmp13	A	G	9: 7,272,952 (GRCm39)	E104G	possibly damaging	Het
Mms19	T	C	19: 41,939,284 (GRCm39)	E495G	possibly damaging	Het
Mrc2	A	G	11: 105,231,647 (GRCm39)	I820V	probably benign	Het
Naip6	T	C	13: 100,440,923 (GRCm39)	K286E	possibly damaging	Het
Ndrg1	T	C	15: 66,816,685 (GRCm39)	Y110C	probably damaging	Het
Or1e1c	G	A	11: 73,265,700 (GRCm39)	V45I	probably benign	Het
Or4a78	A	T	2: 89,497,814 (GRCm39)	C139S	probably damaging	Het
Or5b118	T	C	19: 13,448,771 (GRCm39)	C146R	probably damaging	Het
Or5b3	G	A	19: 13,388,454 (GRCm39)	V174M	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pnpla7	G	T	2: 24,886,177 (GRCm39)	M3I	probably damaging	Het
Popdc3	A	G	10: 45,192,642 (GRCm39)		probably benign	Het
Ppp5c	A	G	7: 16,756,368 (GRCm39)	F112S	probably benign	Het
Reep6	A	G	10: 80,171,080 (GRCm39)	T319A	probably benign	Het
Rfx3	A	G	19: 27,845,000 (GRCm39)	V43A	possibly damaging	Het
Rint1	A	G	5: 24,010,565 (GRCm39)		probably benign	Het
Sacm1l	T	G	9: 123,411,363 (GRCm39)	V384G	probably damaging	Het
Shox2	A	T	3: 66,885,628 (GRCm39)	L149Q	probably damaging	Het
Sipa1	T	C	19: 5,702,782 (GRCm39)	H805R	probably benign	Het
Skic2	T	C	17: 35,059,082 (GRCm39)	D1095G	probably benign	Het
Slc5a3	G	T	16: 91,874,765 (GRCm39)	W274L	probably damaging	Het
Spata31e4	A	G	13: 50,857,118 (GRCm39)	T919A	probably benign	Het
Sptbn1	G	T	11: 30,070,785 (GRCm39)	H1524Q	possibly damaging	Het
Ssr1	G	T	13: 38,171,591 (GRCm39)	Q149K	probably benign	Het
Taf7l2	T	C	10: 115,949,299 (GRCm39)	S76G	probably damaging	Het
Thsd7a	T	C	6: 12,555,701 (GRCm39)	D61G	possibly damaging	Het
Tmem245	T	C	4: 56,903,200 (GRCm39)		probably benign	Het
Tmem74	T	C	15: 43,730,186 (GRCm39)	T286A	probably benign	Het
Tnc	T	C	4: 63,938,705 (GRCm39)	N45D	probably benign	Het
Trdmt1	T	G	2: 13,528,225 (GRCm39)		probably benign	Het
Uty	A	T	Y: 1,174,741 (GRCm39)	Y220N	probably damaging	Het
Vdr	T	C	15: 97,757,002 (GRCm39)	Y290C	probably damaging	Het
Vmn2r19	T	A	6: 123,313,132 (GRCm39)	M734K	probably benign	Het
Vmn2r53	T	C	7: 12,332,410 (GRCm39)	D413G	possibly damaging	Het
Vps45	A	G	3: 95,950,253 (GRCm39)		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
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
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'- TCTAAGTTGGCCCAAGGAGCCTAC -3'
(R):5'- AACCAGCGGCAGGGTCCATATTTC -3'

Sequencing Primer
(F):5'- TTGGAGTCACTGGCCTCAC -3'
(R):5'- GGTCCATATTTCTGTGACCCTAGATG -3'

Posted On

2014-01-05