Mutagenetix > Incidental Mutation

Incidental Mutation 'R2940:Rbp3'

255151

Institutional Source

Beutler Lab

Gene Symbol

Rbp3

Ensembl Gene

ENSMUSG00000041534

Gene Name

retinol binding protein 3, interstitial

Synonyms

Rbp-3, Irbp

MMRRC Submission

040517-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R2940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33954003-33964216 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33956018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 641 (T641M)

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: T641M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: T641M

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,958,805 (GRCm38)	D1878G	probably damaging	Het
Adcy2	A	G	13: 68,730,305 (GRCm38)	W405R	probably damaging	Het
Apc	G	A	18: 34,276,670 (GRCm38)	R221H	probably damaging	Het
Armcx6	A	T	X: 134,749,876 (GRCm38)	W69R	probably damaging	Het
Carm1	C	A	9: 21,579,396 (GRCm38)		probably null	Het
Clasrp	C	A	7: 19,585,240 (GRCm38)		probably benign	Het
Cngb1	T	C	8: 95,252,107 (GRCm38)	I573V	probably benign	Het
Crybg2	A	G	4: 134,082,434 (GRCm38)	H1517R	possibly damaging	Het
Dixdc1	G	A	9: 50,710,959 (GRCm38)	A25V	probably damaging	Het
Dmap1	G	A	4: 117,676,005 (GRCm38)	T284M	possibly damaging	Het
Dock6	A	G	9: 21,839,200 (GRCm38)	F473L	possibly damaging	Het
Eif3a	T	C	19: 60,773,677 (GRCm38)	T487A	probably benign	Het
Elmsan1	C	T	12: 84,156,471 (GRCm38)	G886S	probably benign	Het
Faiml	A	G	9: 99,232,474 (GRCm38)	C121R	probably damaging	Het
Fam180a	A	T	6: 35,313,629 (GRCm38)	S140T	possibly damaging	Het
Fibcd1	T	C	2: 31,817,264 (GRCm38)	Y327C	probably damaging	Het
Gm13101	A	G	4: 143,966,677 (GRCm38)	V77A	probably benign	Het
Haghl	A	G	17: 25,785,086 (GRCm38)	V8A	possibly damaging	Het
Igfbp1	A	G	11: 7,201,970 (GRCm38)	T258A	probably benign	Het
Isl1	T	C	13: 116,308,299 (GRCm38)	T65A	possibly damaging	Het
Khdrbs3	T	A	15: 69,049,390 (GRCm38)	D185E	probably damaging	Het
Klc1	C	T	12: 111,806,017 (GRCm38)	R157C	possibly damaging	Het
Lamc3	A	G	2: 31,940,702 (GRCm38)	S1484G	probably benign	Het
Lman1	G	T	18: 65,984,273 (GRCm38)	P466Q	possibly damaging	Het
Map3k4	C	T	17: 12,261,270 (GRCm38)	E682K	probably damaging	Het
Myo9b	G	A	8: 71,334,337 (GRCm38)	R721Q	probably benign	Het
Nbea	C	G	3: 55,934,624 (GRCm38)	E1879Q	probably benign	Het
Olfr870	C	A	9: 20,170,765 (GRCm38)	G269W	probably benign	Het
Olfr954	G	A	9: 39,461,930 (GRCm38)	M166I	probably benign	Het
Pigc	T	C	1: 161,970,670 (GRCm38)	Y74H	possibly damaging	Het
Plek	C	T	11: 16,992,887 (GRCm38)		probably null	Het
Rasgrf1	C	T	9: 89,991,714 (GRCm38)	A692V	possibly damaging	Het
Rnf25	A	G	1: 74,595,888 (GRCm38)	V135A	possibly damaging	Het
Senp6	G	A	9: 80,143,842 (GRCm38)	A1134T	probably benign	Het
Sh3rf2	G	A	18: 42,111,440 (GRCm38)		probably null	Het
Sh3tc2	A	G	18: 61,989,686 (GRCm38)	D506G	probably damaging	Het
Slc13a1	T	A	6: 24,090,780 (GRCm38)	I547F	possibly damaging	Het
Slc26a6	G	A	9: 108,857,037 (GRCm38)	V206I	probably benign	Het
Smc1a	T	A	X: 152,033,699 (GRCm38)	Y516N	probably damaging	Het
Sorbs1	T	C	19: 40,373,571 (GRCm38)	D123G	probably damaging	Het
Tecta	A	T	9: 42,377,994 (GRCm38)	M425K	possibly damaging	Het
Trpv1	A	G	11: 73,254,849 (GRCm38)	K403R	probably damaging	Het
Ttc39d	A	G	17: 80,217,553 (GRCm38)	Y547C	probably damaging	Het
Tubb6	A	G	18: 67,401,924 (GRCm38)	N298D	probably damaging	Het
Xpo7	A	T	14: 70,667,136 (GRCm38)	L1020Q	probably damaging	Het
Xpo7	G	T	14: 70,667,137 (GRCm38)	L1020I	probably benign	Het
Zswim4	A	T	8: 84,223,748 (GRCm38)	L611Q	probably damaging	Het

Other mutations in Rbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Rbp3	APN	14	33,954,188 (GRCm38)	missense	possibly damaging	0.82
IGL01643:Rbp3	APN	14	33,956,836 (GRCm38)	missense	probably benign	0.18
IGL01665:Rbp3	APN	14	33,956,131 (GRCm38)	missense	probably benign	0.02
IGL01809:Rbp3	APN	14	33,955,300 (GRCm38)	missense	probably damaging	1.00
IGL01975:Rbp3	APN	14	33,958,645 (GRCm38)	missense	probably damaging	1.00
IGL02349:Rbp3	APN	14	33,955,719 (GRCm38)	missense	probably damaging	0.97
IGL02447:Rbp3	APN	14	33,954,503 (GRCm38)	missense	probably damaging	1.00
IGL03192:Rbp3	APN	14	33,958,583 (GRCm38)	missense	possibly damaging	0.52
IGL03302:Rbp3	APN	14	33,954,659 (GRCm38)	missense	probably damaging	0.97
Behagt	UTSW	14	33,954,454 (GRCm38)	missense	probably benign	0.00
jagt	UTSW	14	33,956,482 (GRCm38)	missense	probably damaging	0.97
muntre	UTSW	14	33,956,356 (GRCm38)	missense	possibly damaging	0.95
Rotwild	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
P4717OSA:Rbp3	UTSW	14	33,955,499 (GRCm38)	missense	probably damaging	0.96
R0234:Rbp3	UTSW	14	33,955,901 (GRCm38)	missense	probably damaging	0.98
R0234:Rbp3	UTSW	14	33,955,901 (GRCm38)	missense	probably damaging	0.98
R0432:Rbp3	UTSW	14	33,954,773 (GRCm38)	missense	probably damaging	1.00
R0469:Rbp3	UTSW	14	33,962,419 (GRCm38)	missense	possibly damaging	0.95
R0652:Rbp3	UTSW	14	33,958,648 (GRCm38)	missense	possibly damaging	0.89
R0739:Rbp3	UTSW	14	33,958,647 (GRCm38)	missense	probably benign	0.28
R0747:Rbp3	UTSW	14	33,956,278 (GRCm38)	missense	possibly damaging	0.51
R0836:Rbp3	UTSW	14	33,956,638 (GRCm38)	missense	possibly damaging	0.84
R1102:Rbp3	UTSW	14	33,956,356 (GRCm38)	missense	possibly damaging	0.95
R1583:Rbp3	UTSW	14	33,954,524 (GRCm38)	missense	possibly damaging	0.45
R1589:Rbp3	UTSW	14	33,955,792 (GRCm38)	missense	probably damaging	0.99
R1595:Rbp3	UTSW	14	33,956,198 (GRCm38)	missense	possibly damaging	0.93
R1720:Rbp3	UTSW	14	33,956,909 (GRCm38)	missense	probably benign	0.38
R1830:Rbp3	UTSW	14	33,954,644 (GRCm38)	missense	probably benign	0.31
R1982:Rbp3	UTSW	14	33,954,545 (GRCm38)	missense	probably damaging	0.99
R1985:Rbp3	UTSW	14	33,956,461 (GRCm38)	missense	probably benign	0.00
R1985:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2007:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2027:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2100:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2101:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2113:Rbp3	UTSW	14	33,956,057 (GRCm38)	missense	probably benign	0.00
R2138:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2183:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2248:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2277:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2306:Rbp3	UTSW	14	33,962,563 (GRCm38)	missense	probably damaging	1.00
R2504:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2696:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2697:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2698:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2920:Rbp3	UTSW	14	33,956,018 (GRCm38)	missense	probably damaging	1.00
R2971:Rbp3	UTSW	14	33,954,454 (GRCm38)	missense	probably benign	0.00
R3111:Rbp3	UTSW	14	33,954,112 (GRCm38)	missense	probably benign	0.01
R3155:Rbp3	UTSW	14	33,957,114 (GRCm38)	missense	probably damaging	0.98
R3156:Rbp3	UTSW	14	33,957,114 (GRCm38)	missense	probably damaging	0.98
R3751:Rbp3	UTSW	14	33,956,012 (GRCm38)	missense	probably damaging	0.98
R3752:Rbp3	UTSW	14	33,956,012 (GRCm38)	missense	probably damaging	0.98
R3851:Rbp3	UTSW	14	33,955,507 (GRCm38)	missense	probably damaging	0.98
R4016:Rbp3	UTSW	14	33,955,390 (GRCm38)	missense	possibly damaging	0.82
R4276:Rbp3	UTSW	14	33,958,650 (GRCm38)	missense	probably benign	0.24
R4277:Rbp3	UTSW	14	33,958,650 (GRCm38)	missense	probably benign	0.24
R4278:Rbp3	UTSW	14	33,958,650 (GRCm38)	missense	probably benign	0.24
R4382:Rbp3	UTSW	14	33,955,296 (GRCm38)	missense	probably benign	0.12
R4383:Rbp3	UTSW	14	33,955,296 (GRCm38)	missense	probably benign	0.12
R4385:Rbp3	UTSW	14	33,955,296 (GRCm38)	missense	probably benign	0.12
R4625:Rbp3	UTSW	14	33,956,099 (GRCm38)	missense	probably benign
R4712:Rbp3	UTSW	14	33,960,658 (GRCm38)	missense	probably damaging	0.97
R4812:Rbp3	UTSW	14	33,954,774 (GRCm38)	missense	probably damaging	0.99
R4918:Rbp3	UTSW	14	33,955,411 (GRCm38)	missense	probably damaging	1.00
R4971:Rbp3	UTSW	14	33,954,470 (GRCm38)	missense	probably damaging	0.98
R5262:Rbp3	UTSW	14	33,954,850 (GRCm38)	missense	probably damaging	1.00
R5387:Rbp3	UTSW	14	33,956,413 (GRCm38)	missense	possibly damaging	0.95
R5468:Rbp3	UTSW	14	33,956,627 (GRCm38)	missense	possibly damaging	0.93
R5837:Rbp3	UTSW	14	33,954,273 (GRCm38)	missense	probably benign	0.00
R5994:Rbp3	UTSW	14	33,954,900 (GRCm38)	missense	probably damaging	1.00
R6010:Rbp3	UTSW	14	33,954,647 (GRCm38)	missense	probably damaging	1.00
R6041:Rbp3	UTSW	14	33,956,482 (GRCm38)	missense	probably damaging	0.97
R6266:Rbp3	UTSW	14	33,954,461 (GRCm38)	missense	probably benign
R6357:Rbp3	UTSW	14	33,957,034 (GRCm38)	missense	probably damaging	0.99
R6457:Rbp3	UTSW	14	33,955,267 (GRCm38)	nonsense	probably null
R6777:Rbp3	UTSW	14	33,954,273 (GRCm38)	missense	probably benign	0.00
R7158:Rbp3	UTSW	14	33,955,556 (GRCm38)	missense	probably benign	0.00
R7183:Rbp3	UTSW	14	33,955,204 (GRCm38)	missense	probably benign	0.02
R7256:Rbp3	UTSW	14	33,962,583 (GRCm38)	missense	possibly damaging	0.93
R7654:Rbp3	UTSW	14	33,955,840 (GRCm38)	missense	probably benign
R7756:Rbp3	UTSW	14	33,954,775 (GRCm38)	missense	probably benign	0.15
R7758:Rbp3	UTSW	14	33,954,775 (GRCm38)	missense	probably benign	0.15
R7784:Rbp3	UTSW	14	33,954,158 (GRCm38)	missense	probably benign	0.41
R7845:Rbp3	UTSW	14	33,956,464 (GRCm38)	missense	probably benign	0.24
R8176:Rbp3	UTSW	14	33,955,648 (GRCm38)	missense	possibly damaging	0.67
R8281:Rbp3	UTSW	14	33,956,363 (GRCm38)	missense	probably benign	0.00
R8393:Rbp3	UTSW	14	33,956,199 (GRCm38)	missense	possibly damaging	0.93
R8552:Rbp3	UTSW	14	33,955,664 (GRCm38)	missense	probably benign	0.01
R8717:Rbp3	UTSW	14	33,956,438 (GRCm38)	missense	probably damaging	0.99
R8730:Rbp3	UTSW	14	33,955,838 (GRCm38)	missense	probably benign
R8773:Rbp3	UTSW	14	33,962,535 (GRCm38)	missense	possibly damaging	0.71
R8836:Rbp3	UTSW	14	33,958,631 (GRCm38)	missense	possibly damaging	0.95
R8843:Rbp3	UTSW	14	33,954,565 (GRCm38)	missense	probably benign
R8880:Rbp3	UTSW	14	33,956,839 (GRCm38)	missense	probably benign	0.16
R8941:Rbp3	UTSW	14	33,956,529 (GRCm38)	missense	possibly damaging	0.92
R8971:Rbp3	UTSW	14	33,955,835 (GRCm38)	missense	probably damaging	1.00
R8998:Rbp3	UTSW	14	33,962,403 (GRCm38)	nonsense	probably null
R8999:Rbp3	UTSW	14	33,962,403 (GRCm38)	nonsense	probably null
R9436:Rbp3	UTSW	14	33,955,277 (GRCm38)	missense	possibly damaging	0.94
R9525:Rbp3	UTSW	14	33,954,445 (GRCm38)	missense	probably benign	0.00
R9563:Rbp3	UTSW	14	33,955,520 (GRCm38)	missense	probably damaging	1.00
R9564:Rbp3	UTSW	14	33,955,520 (GRCm38)	missense	probably damaging	1.00
R9723:Rbp3	UTSW	14	33,955,517 (GRCm38)	missense	possibly damaging	0.92
Z1177:Rbp3	UTSW	14	33,954,538 (GRCm38)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- CCGAAGAGTTTGCCTTCCTC -3'
(R):5'- TCCCCAGGGCTATGGAATAC -3'

Sequencing Primer
(F):5'- GAAGAGTTTGCCTTCCTCATGCAG -3'
(R):5'- TGGAATACCAGCAGGCGGTG -3'

Posted On

2014-12-29