Mutagenetix > Incidental Mutation

Incidental Mutation 'R1356:Lurap1l'

156318

Institutional Source

Beutler Lab

Gene Symbol

Lurap1l

Ensembl Gene

ENSMUSG00000048706

Gene Name

leucine rich adaptor protein 1-like

Synonyms

1110029A09Rik, WI-13707, D4Bwg0951e

MMRRC Submission

039421-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R1356 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

80828923-80872538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 80829767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 59 (A59G)

Ref Sequence

ENSEMBL: ENSMUSP00000062628 (fasta)

Gene Model

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

AlphaFold

Q8K2P1

Predicted Effect

probably benign
Transcript: ENSMUST00000055922
AA Change: A59G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062628
Gene: ENSMUSG00000048706
AA Change: A59G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,342,112 (GRCm39)		probably benign	Het
Adam18	A	G	8: 25,158,611 (GRCm39)		probably benign	Het
Cd274	C	A	19: 29,350,970 (GRCm39)	T22K	possibly damaging	Het
Cfap45	G	A	1: 172,355,430 (GRCm39)	R26Q	possibly damaging	Het
Dvl3	AGCGGCGGCGGCGG	AGCGGCGGCGG	16: 20,343,055 (GRCm39)		probably benign	Het
E2f8	A	G	7: 48,530,018 (GRCm39)		probably benign	Het
Ercc4	A	G	16: 12,943,146 (GRCm39)	H255R	probably damaging	Het
Fam227b	C	T	2: 125,960,928 (GRCm39)	D234N	probably damaging	Het
Foxp1	A	T	6: 98,993,637 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,820,089 (GRCm39)	V5274D	probably benign	Het
Gm21718	A	G	14: 51,554,104 (GRCm39)		noncoding transcript	Het
Gpr85	G	A	6: 13,836,146 (GRCm39)	P253S	probably benign	Het
Grm7	A	T	6: 111,335,985 (GRCm39)	I799F	probably damaging	Het
Inpp1	A	G	1: 52,836,215 (GRCm39)	F84L	possibly damaging	Het
Kprp	T	A	3: 92,732,909 (GRCm39)	E47V	probably damaging	Het
Krt9	CTGC	CTGCNNNNNNNNNNNNNNNNNNNNNTGC	11: 100,079,640 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,633,634 (GRCm39)		probably benign	Het
Macc1	A	T	12: 119,410,290 (GRCm39)	T353S	probably benign	Het
Mctp2	A	G	7: 71,814,471 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,700,334 (GRCm39)		probably benign	Het
Mpeg1	T	A	19: 12,438,689 (GRCm39)	V49D	probably damaging	Het
Nos2	C	T	11: 78,843,629 (GRCm39)	P859S	probably benign	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Parn	A	T	16: 13,468,538 (GRCm39)	Y214*	probably null	Het
Pibf1	A	G	14: 99,374,632 (GRCm39)	E357G	possibly damaging	Het
Prex2	C	T	1: 11,150,316 (GRCm39)	Q163*	probably null	Het
Prune2	T	A	19: 17,189,681 (GRCm39)	S294T	probably benign	Het
Slc46a1	A	G	11: 78,361,550 (GRCm39)	N399D	probably benign	Het
Sstr2	T	C	11: 113,515,720 (GRCm39)	F213S	probably damaging	Het
Tnxb	A	G	17: 34,914,446 (GRCm39)	E1967G	possibly damaging	Het
Vmn2r59	A	G	7: 41,661,218 (GRCm39)	*866Q	probably null	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
IGL02244:Lurap1l	APN	4	80,871,866 (GRCm39)	missense	probably damaging	1.00
IGL02943:Lurap1l	APN	4	80,871,872 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- AGACCTCAGAGACATCGAGCTGAAG -3'
(R):5'- CGAGCAAAGTCCTCAGGGTTCAAG -3'

Sequencing Primer
(F):5'- CATCGAGCTGAAGCTGGG -3'
(R):5'- ACTCACCATCTCCTGTCTGA -3'

Posted On

2014-02-11