Mutagenetix > Incidental Mutation

Incidental Mutation 'R7784:Rbp3'

599466

Institutional Source

Beutler Lab

Gene Symbol

Rbp3

Ensembl Gene

ENSMUSG00000041534

Gene Name

retinol binding protein 3, interstitial

Synonyms

Irbp, Rbp-3

MMRRC Submission

045840-MU

Accession Numbers

Essential gene?

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

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33675960-33686173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33676115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 21 (H21L)

Ref Sequence

ENSEMBL: ENSMUSP00000040249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035695]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035695
AA Change: H21L

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040249
Gene: ENSMUSG00000041534
AA Change: H21L

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

0.0586

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,119,638 (GRCm39)		probably null	Het
3425401B19Rik	A	T	14: 32,381,797 (GRCm39)	S1389R	probably benign	Het
Abca9	A	T	11: 110,045,243 (GRCm39)	C363*	probably null	Het
Actbl2	T	A	13: 111,391,945 (GRCm39)	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,223,197 (GRCm39)	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,739,510 (GRCm39)	W653*	probably null	Het
Akap13	T	A	7: 75,260,076 (GRCm39)	V97D	probably benign	Het
Cacna1d	T	A	14: 29,845,396 (GRCm39)	D613V	probably damaging	Het
Col10a1	C	A	10: 34,270,214 (GRCm39)	P62H	unknown	Het
Cpb2	A	T	14: 75,512,480 (GRCm39)	N298Y	probably damaging	Het
Ddc	A	G	11: 11,789,396 (GRCm39)		probably null	Het
Ddx6	T	C	9: 44,541,439 (GRCm39)		probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Eps8	T	A	6: 137,476,585 (GRCm39)	I605L	probably benign	Het
Eps8l1	T	C	7: 4,475,121 (GRCm39)	L304P	probably damaging	Het
Erbb4	T	A	1: 68,114,658 (GRCm39)	I929F	probably damaging	Het
Erc2	A	T	14: 27,620,551 (GRCm39)	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,479,187 (GRCm39)	D355N		Het
Ffar2	T	C	7: 30,518,683 (GRCm39)	K286E	probably benign	Het
Gabrd	A	G	4: 155,473,389 (GRCm39)		probably null	Het
Ganc	G	A	2: 120,267,149 (GRCm39)	W488*	probably null	Het
Ifi207	T	A	1: 173,557,698 (GRCm39)	M347L	unknown	Het
Kat6b	A	T	14: 21,710,909 (GRCm39)	I619F	probably damaging	Het
Kif26a	A	G	12: 112,144,581 (GRCm39)	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,837,320 (GRCm39)		probably null	Het
Krt39	A	T	11: 99,411,857 (GRCm39)	C76*	probably null	Het
Lcmt1	G	T	7: 123,000,718 (GRCm39)	R84L	probably benign	Het
Lrit1	A	G	14: 36,783,737 (GRCm39)	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,512,397 (GRCm39)		probably null	Het
Med23	C	T	10: 24,778,346 (GRCm39)	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,959,517 (GRCm39)		probably null	Het
Mtmr6	A	G	14: 60,537,894 (GRCm39)	D593G	probably benign	Het
Myo15b	G	A	11: 115,752,166 (GRCm39)	V683M		Het
Neb	T	A	2: 52,125,500 (GRCm39)	M506L		Het
Or12d13	T	C	17: 37,647,469 (GRCm39)	Y218C	probably benign	Het
Or12d13	A	G	17: 37,647,946 (GRCm39)	F59S	probably damaging	Het
Or2a20	T	A	6: 43,194,322 (GRCm39)	H158Q	possibly damaging	Het
Or9m1	G	A	2: 87,733,537 (GRCm39)	T161I	probably benign	Het
Pdzd8	A	G	19: 59,316,295 (GRCm39)	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,377,544 (GRCm39)	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 92,044,201 (GRCm39)	T350A		Het
Rp1	C	A	1: 4,212,881 (GRCm39)	V1069F	unknown	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Ryr3	A	G	2: 112,606,040 (GRCm39)	F2407L	probably damaging	Het
Septin2	T	A	1: 93,425,166 (GRCm39)	D107E	probably damaging	Het
Septin4	A	G	11: 87,469,834 (GRCm39)	T7A	probably benign	Het
Slc34a3	T	A	2: 25,122,237 (GRCm39)	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,639,936 (GRCm39)	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,889,114 (GRCm39)	E66V	probably damaging	Het
Slco1a7	C	T	6: 141,658,919 (GRCm39)		probably null	Het
Sp140l2	T	A	1: 85,190,195 (GRCm39)		probably null	Het
Spata33	A	G	8: 123,939,991 (GRCm39)	R68G	unknown	Het
Spta1	G	A	1: 174,030,017 (GRCm39)	D928N	probably damaging	Het
St8sia5	A	G	18: 77,342,246 (GRCm39)	S319G	probably benign	Het
Tmem208	A	G	8: 106,055,465 (GRCm39)	D149G	possibly damaging	Het
Trank1	A	T	9: 111,193,171 (GRCm39)	I583F	probably damaging	Het
Trio	C	T	15: 27,764,080 (GRCm39)	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,654,141 (GRCm39)	Q207*	probably null	Het
Tshr	A	G	12: 91,472,079 (GRCm39)	D143G	probably benign	Het
Txlna	C	T	4: 129,525,950 (GRCm39)	R299H	probably damaging	Het
Ush2a	A	T	1: 188,176,789 (GRCm39)	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,642,660 (GRCm39)	K186R	probably damaging	Het
Vars2	C	T	17: 35,969,050 (GRCm39)	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp775	A	G	6: 48,596,183 (GRCm39)	Q19R	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
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'- AGAGCTGGAAGCCTCACATC -3'
(R):5'- GGTCACTCAAGGAACTCTGGAC -3'

Sequencing Primer
(F):5'- GAGCTGGAAGCCTCACATCTAACTC -3'
(R):5'- TGGACTCCAGCTGTCAGC -3'

Posted On

2019-11-26