Mutagenetix > Incidental Mutation

Incidental Mutation 'R4077:Lrpap1'

316613

Institutional Source

Beutler Lab

Gene Symbol

Lrpap1

Ensembl Gene

ENSMUSG00000029103

Gene Name

low density lipoprotein receptor-related protein associated protein 1

Synonyms

RAP

MMRRC Submission

041622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35248834-35263043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35253381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 261 (I261T)

Ref Sequence

ENSEMBL: ENSMUSP00000030986 (fasta)

Gene Model

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

AlphaFold

P55302

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030986
AA Change: I261T

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030986
Gene: ENSMUSG00000029103
AA Change: I261T

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: ENSMUST00000135207
AA Change: *72Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147028

Predicted Effect

unknown
Transcript: ENSMUST00000153664
AA Change: I53T

SMART Domains

Protein: ENSMUSP00000120233
Gene: ENSMUSG00000029103
AA Change: I53T

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

Meta Mutation Damage Score

0.1085

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	A	2: 150,690,379 (GRCm39)		probably null	Het
Adam33	T	C	2: 130,905,444 (GRCm39)		probably benign	Het
Adrm1b	A	C	3: 92,336,195 (GRCm39)		probably benign	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Atrn	T	C	2: 130,806,850 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cdnf	A	G	2: 3,522,060 (GRCm39)	Y84C	probably damaging	Het
Chdh	T	C	14: 29,757,297 (GRCm39)	S407P	probably damaging	Het
Cmtr1	C	A	17: 29,904,949 (GRCm39)	T300K	probably damaging	Het
Dennd2d	A	T	3: 106,389,939 (GRCm39)		probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Eif1ad3	A	T	12: 87,843,710 (GRCm39)	D119V	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
Erbb4	T	C	1: 68,079,496 (GRCm39)	T1195A	probably benign	Het
Ermard	T	A	17: 15,273,638 (GRCm39)	S408T	probably benign	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fnbp4	C	T	2: 90,588,821 (GRCm39)	R531*	probably null	Het
Gdf6	A	G	4: 9,844,776 (GRCm39)	Y100C	probably damaging	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Grm8	T	C	6: 27,760,208 (GRCm39)	H374R	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	A	G	11: 120,368,202 (GRCm39)	K277E	probably damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hoxa11	A	T	6: 52,222,504 (GRCm39)	Y66N	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Igdcc4	T	A	9: 65,039,047 (GRCm39)	L944Q	probably damaging	Het
Ighv3-1	C	A	12: 113,928,107 (GRCm39)	S84I	probably damaging	Het
Iqgap2	T	C	13: 95,794,375 (GRCm39)	D1199G	probably damaging	Het
Kcnk10	A	T	12: 98,401,205 (GRCm39)	M490K	probably benign	Het
Kirrel1	A	G	3: 86,992,387 (GRCm39)		probably null	Het
Lias	A	T	5: 65,552,768 (GRCm39)	T124S	probably benign	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrrc37a	T	A	11: 103,388,808 (GRCm39)	T2206S	unknown	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mis12	A	G	11: 70,916,134 (GRCm39)	T56A	probably benign	Het
Or10ag56	T	A	2: 87,139,208 (GRCm39)	M25K	probably null	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or4k41	A	G	2: 111,279,848 (GRCm39)	D121G	probably damaging	Het
Or5b99	T	C	19: 12,977,235 (GRCm39)	V295A	probably damaging	Het
Otof	A	T	5: 30,576,850 (GRCm39)	L134Q	possibly damaging	Het
Pds5b	T	A	5: 150,717,824 (GRCm39)	V1155E	possibly damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phyhipl	C	T	10: 70,404,903 (GRCm39)	V57I	probably damaging	Het
Plekha5	T	A	6: 140,501,647 (GRCm39)		probably null	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Proser1	A	G	3: 53,385,962 (GRCm39)	T615A	probably damaging	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rassf2	G	A	2: 131,854,522 (GRCm39)	P7S	probably benign	Het
Sart1	A	T	19: 5,432,771 (GRCm39)	L521Q	possibly damaging	Het
Scgb1b21	T	A	7: 33,227,118 (GRCm39)		noncoding transcript	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Secisbp2l	A	G	2: 125,593,785 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,063,522 (GRCm39)	E931G	probably benign	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tdrd1	A	G	19: 56,819,505 (GRCm39)	M2V	probably benign	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tram1	A	G	1: 13,636,599 (GRCm39)	V358A	probably benign	Het
Unc13c	C	T	9: 73,643,821 (GRCm39)	W1214*	probably null	Het
Vps13b	T	C	15: 35,455,274 (GRCm39)	C728R	probably damaging	Het
Wwox	A	G	8: 115,166,481 (GRCm39)		probably benign	Het
Zbtb41	G	A	1: 139,357,064 (GRCm39)	V440I	probably benign	Het
Zfp777	T	C	6: 48,002,456 (GRCm39)	S589G	probably benign	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCATTCAGAAGGTATTGCCC -3'
(R):5'- CCGGGTTTCAATCAAGCTGC -3'

Sequencing Primer
(F):5'- TTCAGAAGGTATTGCCCCCATCAG -3'
(R):5'- CGGGTTTCAATCAAGCTGCATCTAAG -3'

Posted On

2015-05-15