Mutagenetix > Incidental Mutation

Incidental Mutation 'R2696:Rbp3'

251103

Institutional Source

Beutler Lab

Gene Symbol

Rbp3

Ensembl Gene

ENSMUSG00000041534

Gene Name

retinol binding protein 3, interstitial

Synonyms

Irbp, Rbp-3

MMRRC Submission

040434-MU

Accession Numbers

Essential gene?

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

Stock #

R2696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33675960-33686173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33677975 bp (GRCm39)

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: 97.2%
20x: 95.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,668,228 (GRCm39)	T540S	probably benign	Het
Acp7	G	T	7: 28,314,001 (GRCm39)	H369Q	probably benign	Het
Adgrg3	A	G	8: 95,747,702 (GRCm39)	N65S	probably benign	Het
Anln	A	G	9: 22,272,259 (GRCm39)	V620A	probably benign	Het
Atp10a	T	A	7: 58,463,366 (GRCm39)	S966R	probably benign	Het
Atp8b3	T	A	10: 80,370,017 (GRCm39)	Q132L	possibly damaging	Het
Col4a1	T	A	8: 11,285,092 (GRCm39)		probably null	Het
Ddx21	T	C	10: 62,429,871 (GRCm39)	H291R	possibly damaging	Het
Dlgap3	A	G	4: 127,088,416 (GRCm39)	Y4C	probably damaging	Het
Dnah5	A	G	15: 28,278,722 (GRCm39)	N1106D	probably benign	Het
Esyt1	T	C	10: 128,352,914 (GRCm39)	D662G	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,808 (GRCm39)	V297E	possibly damaging	Het
Faf1	T	A	4: 109,698,525 (GRCm39)	N328K	possibly damaging	Het
Gdf3	A	C	6: 122,583,859 (GRCm39)	F169L	probably benign	Het
Ifi213	G	A	1: 173,417,590 (GRCm39)	T274I	probably benign	Het
Igf2r	T	C	17: 12,914,231 (GRCm39)	D1746G	possibly damaging	Het
Ighv1-75	T	C	12: 115,797,826 (GRCm39)	K32R	probably benign	Het
Ipo8	T	A	6: 148,698,239 (GRCm39)	Q594L	probably benign	Het
Krt87	A	T	15: 101,384,890 (GRCm39)	I402N	probably benign	Het
Med18	G	A	4: 132,187,281 (GRCm39)	R118W	probably damaging	Het
Mmrn2	A	G	14: 34,120,372 (GRCm39)	E414G	probably damaging	Het
Myo6	A	G	9: 80,168,176 (GRCm39)	T447A	probably benign	Het
Ncoa6	T	C	2: 155,279,935 (GRCm39)	E27G	probably benign	Het
Ngly1	T	C	14: 16,283,439 (GRCm38)	L406S	possibly damaging	Het
Or14j1	T	C	17: 38,145,998 (GRCm39)	I36T	probably benign	Het
Or51l4	A	G	7: 103,404,735 (GRCm39)	I19T	probably damaging	Het
Phldb1	T	C	9: 44,629,585 (GRCm39)	Y156C	probably damaging	Het
Pkd2l1	T	A	19: 44,145,708 (GRCm39)	T172S	probably benign	Het
Pknox2	G	A	9: 36,820,987 (GRCm39)	R292*	probably null	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Polr3e	T	C	7: 120,532,600 (GRCm39)	L212P	probably damaging	Het
Ppp4r4	A	G	12: 103,547,653 (GRCm39)	I215M	possibly damaging	Het
Psmg2	T	C	18: 67,781,288 (GRCm39)	Y127H	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptp4a1	A	T	1: 30,985,213 (GRCm39)	M4K	probably benign	Het
R3hcc1l	A	T	19: 42,552,427 (GRCm39)	I475L	possibly damaging	Het
Rsf1	GGC	GGCGGCGGCGGC	7: 97,229,140 (GRCm39)		probably benign	Het
Sec63	T	A	10: 42,659,522 (GRCm39)	I70N	probably benign	Het
Slc2a5	A	C	4: 150,205,203 (GRCm39)	K4T	probably benign	Het
Slc4a3	A	G	1: 75,532,119 (GRCm39)	Y939C	possibly damaging	Het
Slc7a15	T	C	12: 8,579,345 (GRCm39)	*229W	probably null	Het
Slco1a6	C	A	6: 142,058,662 (GRCm39)	G206C	probably damaging	Het
Spata9	A	G	13: 76,125,895 (GRCm39)	Q126R	probably benign	Het
Speg	A	T	1: 75,383,570 (GRCm39)	D1186V	probably benign	Het
Spink5	T	G	18: 44,115,359 (GRCm39)	M197R	probably damaging	Het
Stab2	T	C	10: 86,697,363 (GRCm39)	D1975G	probably benign	Het
Syngap1	T	A	17: 27,176,385 (GRCm39)	C224*	probably null	Het
Ttn	T	C	2: 76,698,807 (GRCm39)		probably benign	Het
Txnrd1	G	A	10: 82,721,116 (GRCm39)	E397K	probably benign	Het
Ugt2b36	A	T	5: 87,237,344 (GRCm39)	M313K	probably damaging	Het
Ulk3	A	G	9: 57,497,724 (GRCm39)	I74V	possibly damaging	Het
Zcchc4	T	C	5: 52,953,573 (GRCm39)	V194A	probably damaging	Het
Zfp27	C	T	7: 29,595,792 (GRCm39)	A58T	possibly damaging	Het
Zfp398	T	G	6: 47,843,879 (GRCm39)	*512E	probably null	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
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'- CGAAGAGTTTGCCTTCCTCATG -3'
(R):5'- TCCCCAGGGCTATGGAATAC -3'

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

Posted On

2014-12-04