Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03102:Lrpap1'

418807

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 #

IGL03102

Quality Score

Status

Chromosome

Chromosomal Location

35248834-35263043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35250694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 353 (S353P)

Ref Sequence

ENSEMBL: ENSMUSP00000030986 (fasta)

Gene Model

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

AlphaFold

P55302

Predicted Effect

probably damaging
Transcript: ENSMUST00000030986
AA Change: S353P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030986
Gene: ENSMUSG00000029103
AA Change: S353P

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

unknown
Transcript: ENSMUST00000153664
AA Change: S145P

SMART Domains

Protein: ENSMUSP00000120233
Gene: ENSMUSG00000029103
AA Change: S145P

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	C	7: 80,744,804 (GRCm39)		probably null	Het
Alyref	G	A	11: 120,488,591 (GRCm39)	P79L	possibly damaging	Het
Arhgap28	T	C	17: 68,203,231 (GRCm39)	D74G	probably damaging	Het
Atp1a4	T	A	1: 172,058,718 (GRCm39)	D909V	probably damaging	Het
Cdc5l	A	T	17: 45,718,857 (GRCm39)	D586E	probably damaging	Het
Chd3	G	T	11: 69,252,022 (GRCm39)	Y79*	probably null	Het
Cnot3	C	A	7: 3,659,155 (GRCm39)	S467*	probably null	Het
Col18a1	A	T	10: 76,903,457 (GRCm39)		probably benign	Het
Col19a1	C	A	1: 24,367,134 (GRCm39)	G483C	probably damaging	Het
Col5a3	A	C	9: 20,715,931 (GRCm39)		probably null	Het
Dctn5	A	T	7: 121,732,382 (GRCm39)	N9I	probably benign	Het
Emc10	T	A	7: 44,141,413 (GRCm39)	N225I	probably damaging	Het
Fam219b	A	G	9: 57,447,981 (GRCm39)	Y158C	probably damaging	Het
Fras1	T	C	5: 96,874,394 (GRCm39)	V2273A	probably benign	Het
Frem3	T	A	8: 81,339,661 (GRCm39)	H651Q	possibly damaging	Het
Gm4076	T	A	13: 85,275,438 (GRCm39)		noncoding transcript	Het
Gpr35	A	T	1: 92,910,299 (GRCm39)	T4S	probably benign	Het
Ifnab	T	G	4: 88,609,062 (GRCm39)	T135P	possibly damaging	Het
Jag1	T	C	2: 136,926,608 (GRCm39)	I979V	probably benign	Het
Kank1	G	T	19: 25,403,282 (GRCm39)	M1097I	probably damaging	Het
Kcnq3	A	G	15: 65,900,637 (GRCm39)	V206A	probably damaging	Het
Kel	T	C	6: 41,679,917 (GRCm39)	K91R	probably benign	Het
Kirrel1	G	T	3: 86,990,807 (GRCm39)	R672S	probably damaging	Het
Kmt2d	A	G	15: 98,753,424 (GRCm39)	M143T	probably benign	Het
Kpna1	A	G	16: 35,833,289 (GRCm39)	I122V	probably damaging	Het
Mtfr1l	T	A	4: 134,259,543 (GRCm39)	Q11L	probably damaging	Het
Muc5b	G	A	7: 141,416,806 (GRCm39)	V3251M	probably benign	Het
Mup8	C	T	4: 60,219,746 (GRCm39)	D174N	probably benign	Het
Nup155	A	T	15: 8,176,768 (GRCm39)	E1015D	probably benign	Het
Or10ak14	C	A	4: 118,611,131 (GRCm39)	L201F	probably benign	Het
Or9i14	T	C	19: 13,792,735 (GRCm39)	Y73C	probably damaging	Het
P2rx7	T	C	5: 122,801,668 (GRCm39)	F188L	possibly damaging	Het
Pacrg	A	G	17: 11,058,719 (GRCm39)	F13L	probably benign	Het
Palb2	A	T	7: 121,723,722 (GRCm39)	S676T	possibly damaging	Het
Pdia6	T	A	12: 17,331,040 (GRCm39)		probably null	Het
Pfkm	A	T	15: 98,024,266 (GRCm39)	I425F	possibly damaging	Het
Pikfyve	C	T	1: 65,291,626 (GRCm39)	R1282*	probably null	Het
Pole	C	T	5: 110,444,939 (GRCm39)	L432F	probably damaging	Het
Pramel25	T	C	4: 143,520,116 (GRCm39)	V120A	possibly damaging	Het
Prr5	G	T	15: 84,650,508 (GRCm39)		probably benign	Het
Prxl2b	T	C	4: 154,981,058 (GRCm39)		probably benign	Het
Psat1	A	G	19: 15,883,487 (GRCm39)	Y343H	probably damaging	Het
Ptprj	C	T	2: 90,309,312 (GRCm39)	R51K	probably benign	Het
Qars1	A	G	9: 108,386,118 (GRCm39)	D103G	probably benign	Het
Rims2	A	T	15: 39,322,989 (GRCm39)	I768F	possibly damaging	Het
Robo4	T	A	9: 37,315,481 (GRCm39)	V275E	probably damaging	Het
Ryr2	A	G	13: 11,650,468 (GRCm39)		probably benign	Het
Sez6l	T	C	5: 112,623,269 (GRCm39)	H94R	probably benign	Het
Slco1c1	T	A	6: 141,490,553 (GRCm39)	N211K	possibly damaging	Het
Strbp	T	C	2: 37,476,515 (GRCm39)		probably benign	Het
Tceanc2	T	A	4: 107,004,878 (GRCm39)	H90L	probably damaging	Het
Tdrkh	A	T	3: 94,331,844 (GRCm39)	T90S	possibly damaging	Het
Tiam2	A	G	17: 3,559,823 (GRCm39)	D1288G	probably damaging	Het
Tln1	T	C	4: 43,532,861 (GRCm39)	D2447G	possibly damaging	Het
Tmem63c	G	A	12: 87,112,323 (GRCm39)	V141M	probably benign	Het
Tpp2	T	A	1: 43,995,649 (GRCm39)	V268E	probably damaging	Het
Tprkb	T	A	6: 85,901,400 (GRCm39)	C13S	probably benign	Het
Traf3ip3	T	C	1: 192,877,385 (GRCm39)	T184A	probably damaging	Het
Trpc6	T	A	9: 8,649,302 (GRCm39)	M504K	probably benign	Het
Ttn	G	T	2: 76,597,567 (GRCm39)	S18036*	probably null	Het
Wdfy4	A	T	14: 32,688,392 (GRCm39)	C2914S	probably damaging	Het
Ylpm1	T	A	12: 85,096,032 (GRCm39)		probably benign	Het
Zfp644	T	C	5: 106,785,134 (GRCm39)	H471R	probably damaging	Het
Zfp747l1	T	C	7: 126,983,951 (GRCm39)	T384A	probably benign	Het
Zfyve16	C	T	13: 92,648,325 (GRCm39)	E910K	possibly damaging	Het

Other mutations in Lrpap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02219:Lrpap1	APN	5	35,253,411 (GRCm39)	splice site	probably benign
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

2016-08-02