Mutagenetix > Incidental Mutation

Incidental Mutation 'R7863:Rbp4'

607699

Institutional Source

Beutler Lab

Gene Symbol

Rbp4

Ensembl Gene

ENSMUSG00000024990

Gene Name

retinol binding protein 4, plasma

Synonyms

Rbp-4, retinol binding protein 4, cellular

MMRRC Submission

045916-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7863 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38105077-38113729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38112546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 140 (T140A)

Ref Sequence

ENSEMBL: ENSMUSP00000025951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025951] [ENSMUST00000112335]

AlphaFold

Q00724

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025951
AA Change: T140A

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025951
Gene: ENSMUSG00000024990
AA Change: T140A

Domain	Start	End	E-Value	Type
low complexity region	47	60	N/A	INTRINSIC
Pfam:Lipocalin_2	77	229	8.2e-9	PFAM
Pfam:Lipocalin	83	229	8.3e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112335
AA Change: T96A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107954
Gene: ENSMUSG00000024990
AA Change: T96A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Lipocalin_2	33	186	3.6e-9	PFAM
Pfam:Lipocalin	39	185	6.5e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show abnormal retinal function and retinol level, delayed heart trabeculation, and increased myocyte proliferation and fibronectin deposition in cardiac jelly and nascent valves. Homozygotes for another null allele show testicular defects on a vitamin A-deficient diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,838,101 (GRCm39)	S829P	probably benign	Het
Abca1	A	T	4: 53,107,179 (GRCm39)	F183I	probably benign	Het
Abca12	A	T	1: 71,332,656 (GRCm39)	M1235K	probably damaging	Het
Abca7	A	G	10: 79,844,655 (GRCm39)	D1488G	probably damaging	Het
Adgrl3	A	G	5: 81,660,596 (GRCm39)	Y387C	probably damaging	Het
Adnp	T	C	2: 168,031,270 (GRCm39)	K14E	possibly damaging	Het
Ago3	T	C	4: 126,243,990 (GRCm39)	R721G	possibly damaging	Het
Aldh3b3	T	A	19: 4,015,322 (GRCm39)	Y196*	probably null	Het
Alox12b	T	C	11: 69,057,753 (GRCm39)	W506R	probably damaging	Het
Arid4b	A	G	13: 14,338,734 (GRCm39)	I402V	probably benign	Het
Cep55	C	T	19: 38,046,247 (GRCm39)		probably benign	Het
Chl1	A	G	6: 103,683,475 (GRCm39)	N767S	possibly damaging	Het
Cldn6	A	G	17: 23,900,096 (GRCm39)	N20S	probably benign	Het
Col23a1	A	T	11: 51,463,597 (GRCm39)	I420F	probably damaging	Het
Cxcr6	G	A	9: 123,639,914 (GRCm39)	R312Q	probably damaging	Het
Cyp4a10	T	C	4: 115,375,622 (GRCm39)	V35A	probably benign	Het
Def6	A	G	17: 28,446,841 (GRCm39)	N548D	possibly damaging	Het
Dock6	A	G	9: 21,757,954 (GRCm39)	V50A	possibly damaging	Het
Epha8	T	A	4: 136,660,966 (GRCm39)	I639F	probably damaging	Het
Ephx2	T	A	14: 66,344,692 (GRCm39)	R211*	probably null	Het
Espn	C	T	4: 152,236,616 (GRCm39)	V17M	probably damaging	Het
Ezr	A	G	17: 7,008,863 (GRCm39)	L403P	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Golm1	T	C	13: 59,797,383 (GRCm39)	Y154C	probably damaging	Het
Gpam	A	G	19: 55,059,388 (GRCm39)	Y820H	probably damaging	Het
Gpr12	T	C	5: 146,520,370 (GRCm39)	D184G	possibly damaging	Het
Gpr87	C	T	3: 59,087,317 (GRCm39)	A63T	probably damaging	Het
Hmx2	G	T	7: 131,156,082 (GRCm39)	G16V	probably benign	Het
Hspg2	T	C	4: 137,292,135 (GRCm39)	V4009A	probably benign	Het
Iglc3	T	C	16: 18,884,248 (GRCm39)	D61G	not run	Het
Ikzf2	G	T	1: 69,609,796 (GRCm39)	Q144K	possibly damaging	Het
Il1rap	C	T	16: 26,495,461 (GRCm39)	R23C	probably damaging	Het
Kctd9	T	A	14: 67,967,166 (GRCm39)	D161E	possibly damaging	Het
Klhl8	T	C	5: 104,019,968 (GRCm39)	N351S	probably benign	Het
Krt28	G	A	11: 99,255,999 (GRCm39)	T420I	possibly damaging	Het
Marchf7	T	A	2: 60,071,366 (GRCm39)	H623Q	probably benign	Het
Max	A	G	12: 76,986,848 (GRCm39)	I63T	probably damaging	Het
Mrpl28	T	A	17: 26,343,615 (GRCm39)	V125E	possibly damaging	Het
Mtmr10	T	A	7: 63,969,205 (GRCm39)	D322E	probably benign	Het
Mtrex	T	C	13: 113,045,435 (GRCm39)	T366A	probably benign	Het
Nlrp4f	A	T	13: 65,342,059 (GRCm39)	Y529N	possibly damaging	Het
Nlrx1	A	G	9: 44,176,509 (GRCm39)	I31T	probably benign	Het
Oaz2	G	A	9: 65,596,449 (GRCm39)	R171Q	possibly damaging	Het
Or4c121	T	G	2: 89,024,295 (GRCm39)	I28L	probably benign	Het
Or5a1	T	G	19: 12,097,974 (GRCm39)	D34A	possibly damaging	Het
Or5t16	T	G	2: 86,819,424 (GRCm39)	Y32S	probably damaging	Het
Pcdhgc4	T	A	18: 37,951,027 (GRCm39)	Y814*	probably null	Het
Pcm1	T	A	8: 41,714,163 (GRCm39)	I243K	probably damaging	Het
Pdcd11	A	T	19: 47,085,403 (GRCm39)	N171I	probably damaging	Het
Phf20l1	T	A	15: 66,487,084 (GRCm39)	V400E	possibly damaging	Het
Pira13	C	T	7: 3,827,801 (GRCm39)		probably null	Het
Psg28	T	A	7: 18,162,042 (GRCm39)	T154S	possibly damaging	Het
Ptgs2	T	A	1: 149,977,090 (GRCm39)	M99K	probably damaging	Het
Ptprh	T	A	7: 4,606,097 (GRCm39)	M1L	probably benign	Het
Rhbdd3	G	A	11: 5,053,236 (GRCm39)	R12Q	probably benign	Het
Saal1	T	C	7: 46,342,327 (GRCm39)	N372S	probably benign	Het
Satb1	T	C	17: 52,112,350 (GRCm39)	E88G	possibly damaging	Het
Shfl	G	A	9: 20,782,672 (GRCm39)	A79T	possibly damaging	Het
Slc49a3	A	T	5: 108,593,400 (GRCm39)	L146Q	probably damaging	Het
Slc6a9	G	T	4: 117,721,207 (GRCm39)	C319F	probably damaging	Het
Smc6	T	G	12: 11,339,130 (GRCm39)	V322G	probably benign	Het
Snrnp200	T	A	2: 127,073,609 (GRCm39)	F1336I	probably damaging	Het
Spg7	T	A	8: 123,815,788 (GRCm39)		probably null	Het
Stab2	G	A	10: 86,808,745 (GRCm39)	T188I	probably benign	Het
Tbata	A	G	10: 61,011,521 (GRCm39)	E19G	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Ticrr	T	C	7: 79,331,760 (GRCm39)	V757A	possibly damaging	Het
Tle1	T	C	4: 72,059,529 (GRCm39)	S261G	probably null	Het
Tlr3	T	A	8: 45,850,774 (GRCm39)	I708L	probably benign	Het
Tph2	A	C	10: 114,915,906 (GRCm39)	S422R	probably damaging	Het
Trim26	A	G	17: 37,161,664 (GRCm39)	T28A	probably damaging	Het
Trmt10c	A	G	16: 55,855,554 (GRCm39)	L27S	probably benign	Het
Tubb6	T	C	18: 67,534,790 (GRCm39)	S230P	probably damaging	Het
Usf1	C	T	1: 171,245,385 (GRCm39)	Q266*	probably null	Het
Vegfa	A	G	17: 46,336,461 (GRCm39)	F220L	probably damaging	Het
Vmn2r105	C	T	17: 20,428,937 (GRCm39)	C713Y	probably benign	Het
Vmn2r17	T	A	5: 109,568,035 (GRCm39)	S53T	probably benign	Het
Xirp2	A	T	2: 67,343,074 (GRCm39)	T1772S	probably benign	Het
Zfp462	T	C	4: 55,007,747 (GRCm39)	I62T	probably benign	Het
Zfp516	T	A	18: 83,019,453 (GRCm39)	I1157N	probably benign	Het
Zfp819	C	A	7: 43,267,316 (GRCm39)	Q600K	probably benign	Het

Other mutations in Rbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01727:Rbp4	APN	19	38,112,500 (GRCm39)	missense	probably benign	0.00
IGL01868:Rbp4	APN	19	38,112,968 (GRCm39)	missense	probably damaging	0.98
IGL02326:Rbp4	APN	19	38,112,563 (GRCm39)	missense	probably damaging	0.96
IGL02828:Rbp4	APN	19	38,106,717 (GRCm39)	splice site	probably null
R0666:Rbp4	UTSW	19	38,106,908 (GRCm39)	missense	probably damaging	1.00
R2422:Rbp4	UTSW	19	38,112,792 (GRCm39)	missense	probably damaging	0.96
R6253:Rbp4	UTSW	19	38,113,428 (GRCm39)	missense	probably benign	0.05
R7075:Rbp4	UTSW	19	38,112,509 (GRCm39)	missense	probably damaging	1.00
R7204:Rbp4	UTSW	19	38,112,551 (GRCm39)	missense	possibly damaging	0.88
R7366:Rbp4	UTSW	19	38,113,410 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- CCCTAAATTCAGACAGGGCTG -3'
(R):5'- ATATGAGCGCCACAGCCAAG -3'

Sequencing Primer
(F):5'- CTGAGGGTTCTGCCTCTCGAAG -3'
(R):5'- CGAGTCCGTCTTCTGAGGTCAG -3'

Posted On

2019-12-20