Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02219:Lrpap1'

285076

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrpap1

Ensembl Gene

ENSMUSG00000029103

Gene Name

low density lipoprotein receptor-related protein associated protein 1

Synonyms

RAP

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02219

Quality Score

Status

Chromosome

Chromosomal Location

35248834-35263043 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 35253411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030986]

AlphaFold

P55302

Predicted Effect

probably benign
Transcript: ENSMUST00000030986

SMART Domains

Protein: ENSMUSP00000030986
Gene: ENSMUSG00000029103

Domain	Start	End	E-Value	Type
Pfam:Alpha-2-MRAP_N	20	137	7.7e-45	PFAM
Pfam:Alpha-2-MRAP_C	148	360	3.4e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147028

Predicted Effect

probably benign
Transcript: ENSMUST00000153664

SMART Domains

Protein: ENSMUSP00000120233
Gene: ENSMUSG00000029103

Domain	Start	End	E-Value	Type
Pfam:Alpha-2-MRAP_C	2	153	4.7e-48	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. However, subtle abnormalities are seen in behavior, brain function and thyroid function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	A	T	1: 192,515,691 (GRCm39)		noncoding transcript	Het
Abcb10	G	A	8: 124,681,166 (GRCm39)	H677Y	probably benign	Het
Ager	T	C	17: 34,819,094 (GRCm39)	V314A	probably damaging	Het
Asxl3	A	G	18: 22,586,683 (GRCm39)	M158V	possibly damaging	Het
Atp1a2	G	A	1: 172,107,298 (GRCm39)	Q741*	probably null	Het
Atp1a2	A	T	1: 172,107,285 (GRCm39)	M745K	probably damaging	Het
Begain	A	G	12: 108,999,656 (GRCm39)	S577P	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Camk2b	A	G	11: 5,926,872 (GRCm39)	L497P	possibly damaging	Het
Cand2	T	A	6: 115,780,773 (GRCm39)	I1219N	probably damaging	Het
Cckbr	T	A	7: 105,083,255 (GRCm39)	Y153N	probably damaging	Het
Cep250	T	G	2: 155,833,514 (GRCm39)	V1812G	probably benign	Het
Cyp2c39	A	T	19: 39,556,643 (GRCm39)		probably benign	Het
Ddx43	T	A	9: 78,324,001 (GRCm39)	M444K	probably damaging	Het
Dnm1	A	T	2: 32,213,462 (GRCm39)	M506K	probably benign	Het
Duox2	A	T	2: 122,125,145 (GRCm39)	H352Q	probably benign	Het
Fcgbpl1	T	C	7: 27,854,060 (GRCm39)	Y1675H	probably damaging	Het
Fsip2	A	G	2: 82,808,174 (GRCm39)	T1498A	probably benign	Het
Gcn1	A	T	5: 115,751,826 (GRCm39)	Q2067L	possibly damaging	Het
Get4	G	T	5: 139,249,384 (GRCm39)		probably null	Het
Gm6370	G	A	5: 146,430,453 (GRCm39)	A213T	possibly damaging	Het
Gpr135	T	C	12: 72,117,047 (GRCm39)	Y240C	probably damaging	Het
Gstm5	T	A	3: 107,805,347 (GRCm39)	L145Q	probably damaging	Het
Hoxb3	T	C	11: 96,236,986 (GRCm39)	Y355H	probably damaging	Het
Hsf2	A	C	10: 57,372,370 (GRCm39)	K108Q	probably damaging	Het
Kdm3a	T	C	6: 71,577,718 (GRCm39)	N694S	probably benign	Het
Mapk8ip3	T	C	17: 25,118,532 (GRCm39)	T1162A	probably damaging	Het
Mettl14	T	C	3: 123,168,540 (GRCm39)		probably benign	Het
Mrgprx1	T	C	7: 47,671,477 (GRCm39)	Y90C	probably benign	Het
Mybpc3	A	T	2: 90,951,368 (GRCm39)		probably null	Het
Nup88	C	T	11: 70,860,518 (GRCm39)	G87D	probably benign	Het
Or5w20	A	G	2: 87,727,317 (GRCm39)	Y258C	possibly damaging	Het
Or7d9	A	T	9: 20,197,756 (GRCm39)	T254S	probably benign	Het
Or9i1	C	T	19: 13,839,187 (GRCm39)	T10M	probably damaging	Het
Pan2	G	A	10: 128,156,221 (GRCm39)	E1133K	probably benign	Het
Pcsk2	T	C	2: 143,635,045 (GRCm39)	S307P	probably damaging	Het
Pdgfa	C	T	5: 138,971,950 (GRCm39)	V150I	probably damaging	Het
Phf12	T	C	11: 77,875,022 (GRCm39)	C83R	probably damaging	Het
Pla2g2c	A	G	4: 138,463,319 (GRCm39)	Y71C	probably damaging	Het
Pou2f2	T	A	7: 24,797,107 (GRCm39)	Q218L	probably damaging	Het
Prl8a9	C	T	13: 27,743,353 (GRCm39)	V151I	possibly damaging	Het
Prop1	T	C	11: 50,842,911 (GRCm39)	D92G	probably damaging	Het
Rnf13	A	G	3: 57,703,644 (GRCm39)	Y116C	probably damaging	Het
Ro60	A	G	1: 143,637,013 (GRCm39)	C400R	possibly damaging	Het
Scrib	T	A	15: 75,936,885 (GRCm39)	K383*	probably null	Het
Slc44a5	T	C	3: 153,944,796 (GRCm39)	Y138H	possibly damaging	Het
Stra6	G	A	9: 58,047,752 (GRCm39)	V108M	probably benign	Het
Tspan10	G	T	11: 120,337,198 (GRCm39)	A323S	probably benign	Het
Ttc22	T	A	4: 106,495,687 (GRCm39)	V347D	probably damaging	Het
Ugt1a10	C	T	1: 87,983,780 (GRCm39)	L193F	probably benign	Het
Vps13d	G	T	4: 144,894,716 (GRCm39)	H457N	probably benign	Het
Vrtn	A	G	12: 84,695,607 (GRCm39)	Y119C	probably damaging	Het
Xpnpep3	T	C	15: 81,311,657 (GRCm39)	F121S	probably damaging	Het

Other mutations in Lrpap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03102:Lrpap1	APN	5	35,250,694 (GRCm39)	missense	probably damaging	0.98
R0029:Lrpap1	UTSW	5	35,255,021 (GRCm39)	missense	possibly damaging	0.86
R0089:Lrpap1	UTSW	5	35,252,232 (GRCm39)	missense	possibly damaging	0.93
R1944:Lrpap1	UTSW	5	35,254,974 (GRCm39)	missense	probably benign	0.00
R1955:Lrpap1	UTSW	5	35,259,756 (GRCm39)	missense	probably damaging	1.00
R3877:Lrpap1	UTSW	5	35,255,547 (GRCm39)	missense	probably benign	0.04
R4004:Lrpap1	UTSW	5	35,262,888 (GRCm39)	nonsense	probably null
R4077:Lrpap1	UTSW	5	35,253,381 (GRCm39)	missense	possibly damaging	0.74
R4078:Lrpap1	UTSW	5	35,253,381 (GRCm39)	missense	possibly damaging	0.74
R4079:Lrpap1	UTSW	5	35,253,381 (GRCm39)	missense	possibly damaging	0.74
R4782:Lrpap1	UTSW	5	35,256,622 (GRCm39)	missense	probably damaging	0.99
R4828:Lrpap1	UTSW	5	35,259,765 (GRCm39)	missense	possibly damaging	0.95
R6672:Lrpap1	UTSW	5	35,256,577 (GRCm39)	missense	probably benign	0.02
R6925:Lrpap1	UTSW	5	35,259,880 (GRCm39)	missense	probably benign
R8963:Lrpap1	UTSW	5	35,255,001 (GRCm39)	missense	probably benign
R9164:Lrpap1	UTSW	5	35,262,923 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16