Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00159:Lurap1'

1711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lurap1

Ensembl Gene

ENSMUSG00000028701

Gene Name

leucine rich adaptor protein 1

Synonyms

1520402A15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL00159

Quality Score

Status

Chromosome

Chromosomal Location

115993925-116001813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115994887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 115 (T115A)

Ref Sequence

ENSEMBL: ENSMUSP00000030469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030469] [ENSMUST00000120083] [ENSMUST00000121052]

AlphaFold

Q9D6I9

Predicted Effect

probably damaging
Transcript: ENSMUST00000030469
AA Change: T115A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030469
Gene: ENSMUSG00000028701
AA Change: T115A

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
Pfam:LURAP	39	159	1.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120083

SMART Domains

Protein: ENSMUSP00000112751
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
Pfam:ILEI	129	220	8.9e-28	PFAM
Pfam:GNT-I	293	612	1.9e-51	PFAM
low complexity region	645	658	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121052

SMART Domains

Protein: ENSMUSP00000112911
Gene: ENSMUSG00000028700

Domain	Start	End	E-Value	Type
low complexity region	82	97	N/A	INTRINSIC
PDB:2YOQ\|C	129	217	6e-10	PDB
Pfam:GNT-I	293	613	3.2e-52	PFAM
low complexity region	645	658	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144311

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Axin1	A	T	17: 26,361,779 (GRCm39)	D41V	possibly damaging	Het
BC034090	C	A	1: 155,101,197 (GRCm39)	E718*	probably null	Het
Cdc123	G	T	2: 5,809,746 (GRCm39)	Q222K	probably benign	Het
Clip1	A	C	5: 123,741,717 (GRCm39)	V1053G	possibly damaging	Het
Dock7	T	A	4: 98,952,222 (GRCm39)	E416V	probably damaging	Het
Dydc1	T	C	14: 40,809,370 (GRCm39)	L143P	probably damaging	Het
Dync2h1	A	G	9: 7,158,839 (GRCm39)	V732A	probably benign	Het
Dzip1l	T	A	9: 99,519,830 (GRCm39)	L119Q	probably damaging	Het
Erp27	T	A	6: 136,886,500 (GRCm39)	S178C	probably damaging	Het
Fbn1	A	G	2: 125,239,793 (GRCm39)	V298A	probably benign	Het
Fbxo34	A	G	14: 47,766,931 (GRCm39)	H97R	probably damaging	Het
Gm20521	C	T	14: 55,122,079 (GRCm39)	Q81*	probably null	Het
Gspt1	T	C	16: 11,040,476 (GRCm39)	M610V	probably damaging	Het
Herc1	A	G	9: 66,344,964 (GRCm39)	Q1919R	possibly damaging	Het
Il19	A	G	1: 130,862,792 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Lrrk2	A	G	15: 91,632,002 (GRCm39)	K1309E	possibly damaging	Het
Myo18b	G	T	5: 113,021,997 (GRCm39)	T465K	probably benign	Het
Nwd1	A	T	8: 73,397,705 (GRCm39)	D648V	probably damaging	Het
Or13c25	T	G	4: 52,911,618 (GRCm39)	M59L	possibly damaging	Het
Or2at4	G	A	7: 99,384,524 (GRCm39)	R58H	probably benign	Het
Otof	T	C	5: 30,533,248 (GRCm39)	Y1527C	probably damaging	Het
Otop3	G	A	11: 115,235,223 (GRCm39)	C285Y	probably damaging	Het
Parp3	A	G	9: 106,348,586 (GRCm39)	I478T	probably benign	Het
Pdzd2	C	T	15: 12,458,069 (GRCm39)	E265K	possibly damaging	Het
Pik3c2g	T	C	6: 139,841,851 (GRCm39)	L634P	probably damaging	Het
Prkg1	C	A	19: 31,279,740 (GRCm39)	V165L	probably benign	Het
Riok3	A	G	18: 12,281,948 (GRCm39)	I306V	possibly damaging	Het
Ror2	T	C	13: 53,267,118 (GRCm39)	D439G	probably benign	Het
Scn2a	T	A	2: 65,573,434 (GRCm39)	I1428N	probably damaging	Het
Sgcg	C	T	14: 61,469,924 (GRCm39)	D146N	probably benign	Het
Skic3	T	C	13: 76,291,397 (GRCm39)		probably null	Het
Slc16a9	A	G	10: 70,118,529 (GRCm39)	R283G	probably benign	Het
Sptb	T	C	12: 76,668,105 (GRCm39)	D664G	probably benign	Het
Tmprss3	T	A	17: 31,413,982 (GRCm39)	D54V	probably damaging	Het
Tubd1	G	T	11: 86,456,555 (GRCm39)	V374F	probably benign	Het
Vmn2r57	A	T	7: 41,078,209 (GRCm39)	M83K	probably benign	Het
Vps13c	A	G	9: 67,853,281 (GRCm39)	E2458G	probably benign	Het
Vps35l	G	A	7: 118,396,270 (GRCm39)		probably null	Het
Zhx2	A	T	15: 57,686,266 (GRCm39)	E545V	probably damaging	Het

Other mutations in Lurap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Lurap1	APN	4	116,001,700 (GRCm39)	intron	probably benign
R5330:Lurap1	UTSW	4	116,001,601 (GRCm39)	missense	probably damaging	1.00
R5331:Lurap1	UTSW	4	116,001,601 (GRCm39)	missense	probably damaging	1.00
R5728:Lurap1	UTSW	4	116,001,585 (GRCm39)	missense	possibly damaging	0.74
R6056:Lurap1	UTSW	4	115,994,599 (GRCm39)	missense	possibly damaging	0.91
X0057:Lurap1	UTSW	4	116,001,739 (GRCm39)	intron	probably benign

Posted On

2011-07-12