Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02244:Lurap1l'

286107

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lurap1l

Ensembl Gene

ENSMUSG00000048706

Gene Name

leucine rich adaptor protein 1-like

Synonyms

1110029A09Rik, WI-13707, D4Bwg0951e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02244

Quality Score

Status

Chromosome

Chromosomal Location

80828923-80872538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80871866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 120 (S120P)

Ref Sequence

ENSEMBL: ENSMUSP00000062628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055922]

AlphaFold

Q8K2P1

Predicted Effect

probably damaging
Transcript: ENSMUST00000055922
AA Change: S120P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062628
Gene: ENSMUSG00000048706
AA Change: S120P

Domain	Start	End	E-Value	Type
Pfam:LURAP	70	186	3.3e-56	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	T	16: 90,853,085 (GRCm39)	T17K	probably benign	Het
Agbl1	T	C	7: 76,416,120 (GRCm39)	S714P	probably damaging	Het
Araf	A	G	X: 20,719,835 (GRCm39)		probably benign	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Armc8	A	T	9: 99,365,227 (GRCm39)	D638E	probably benign	Het
Bpifb5	C	T	2: 154,067,068 (GRCm39)	T107I	possibly damaging	Het
Ces1e	A	C	8: 93,938,977 (GRCm39)		probably null	Het
Col4a3	C	A	1: 82,647,492 (GRCm39)		probably benign	Het
Col4a5	A	G	X: 140,382,669 (GRCm39)		probably benign	Het
Crocc	T	C	4: 140,765,231 (GRCm39)	H477R	probably benign	Het
Dgkd	C	A	1: 87,842,863 (GRCm39)	N130K	probably benign	Het
Dock1	C	T	7: 134,379,174 (GRCm39)	Q634*	probably null	Het
Dzip3	C	T	16: 48,801,351 (GRCm39)	V58I	probably benign	Het
Fndc3a	A	G	14: 72,793,807 (GRCm39)		probably benign	Het
Glp2r	C	T	11: 67,612,817 (GRCm39)	R379H	probably damaging	Het
Kctd12b	T	A	X: 152,472,330 (GRCm39)	M120L	probably benign	Het
Krt33b	A	G	11: 99,916,189 (GRCm39)	V258A	probably benign	Het
Lpin1	T	A	12: 16,591,770 (GRCm39)	N819I	probably damaging	Het
Lysmd4	T	C	7: 66,875,672 (GRCm39)	S112P	probably damaging	Het
Myo1e	A	G	9: 70,274,971 (GRCm39)	K708R	probably benign	Het
Nr3c1	T	A	18: 39,554,610 (GRCm39)		probably benign	Het
Nup62cl	G	T	X: 138,922,780 (GRCm39)	N239K	probably benign	Het
Nwd1	A	T	8: 73,434,210 (GRCm39)	E1269V	probably damaging	Het
Or52e7	C	T	7: 104,685,152 (GRCm39)	T249M	probably damaging	Het
Pcdh9	A	C	14: 93,564,204 (GRCm39)	L1084R	probably damaging	Het
Plxnd1	A	G	6: 115,955,218 (GRCm39)	M543T	probably benign	Het
Prss53	T	A	7: 127,487,964 (GRCm39)	T173S	possibly damaging	Het
Reep2	C	A	18: 34,973,807 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,419,003 (GRCm39)	D703G	probably benign	Het
Sbf2	T	G	7: 110,159,502 (GRCm39)	D36A	probably damaging	Het
Sh3kbp1	C	T	X: 158,586,724 (GRCm39)	R99W	probably damaging	Het
Sis	T	A	3: 72,863,523 (GRCm39)	R238S	probably benign	Het
Slc35e2	T	A	4: 155,703,019 (GRCm39)	V344D	probably damaging	Het
Specc1	G	A	11: 62,019,194 (GRCm39)	V678I	probably benign	Het
Supt6	T	C	11: 78,123,623 (GRCm39)	D49G	possibly damaging	Het
Tecpr1	G	A	5: 144,146,821 (GRCm39)	A515V	probably benign	Het
Tlr4	G	A	4: 66,752,298 (GRCm39)		probably null	Het
Tmco5b	A	G	2: 113,118,619 (GRCm39)	E114G	probably damaging	Het
Tspear	A	T	10: 77,688,690 (GRCm39)		probably benign	Het
Txlnb	T	A	10: 17,719,116 (GRCm39)	V649E	probably benign	Het
Utp20	A	G	10: 88,651,818 (GRCm39)		probably benign	Het
Virma	G	A	4: 11,546,031 (GRCm39)	R1673Q	probably damaging	Het
Vmn2r70	T	A	7: 85,214,211 (GRCm39)	T314S	probably benign	Het
Zfp938	G	T	10: 82,061,906 (GRCm39)	T238K	possibly damaging	Het

Other mutations in Lurap1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02227:Lurap1l	APN	4	80,872,094 (GRCm39)	missense	probably damaging	0.99
IGL02943:Lurap1l	APN	4	80,871,872 (GRCm39)	missense	probably damaging	1.00
R1356:Lurap1l	UTSW	4	80,829,767 (GRCm39)	missense	probably benign	0.00
R4182:Lurap1l	UTSW	4	80,872,095 (GRCm39)	missense	probably benign	0.07
R4183:Lurap1l	UTSW	4	80,872,095 (GRCm39)	missense	probably benign	0.07
R4798:Lurap1l	UTSW	4	80,829,650 (GRCm39)	missense	probably damaging	1.00
R5715:Lurap1l	UTSW	4	80,871,958 (GRCm39)	missense	possibly damaging	0.93
R7033:Lurap1l	UTSW	4	80,829,604 (GRCm39)	missense	probably benign	0.13
R7186:Lurap1l	UTSW	4	80,829,747 (GRCm39)	missense	possibly damaging	0.68
R7225:Lurap1l	UTSW	4	80,829,718 (GRCm39)	missense	probably benign	0.05
R7414:Lurap1l	UTSW	4	80,871,991 (GRCm39)	missense	probably benign

Posted On

2015-04-16