Mutagenetix > Incidental Mutation

Incidental Mutation 'R4182:Lurap1l'

319766

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

041018-MU

Accession Numbers

Essential gene?

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

Stock #

R4182 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80828923-80872538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80872095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 196 (S196N)

Ref Sequence

ENSEMBL: ENSMUSP00000062628 (fasta)

Gene Model

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

AlphaFold

Q8K2P1

Predicted Effect

probably benign
Transcript: ENSMUST00000055922
AA Change: S196N

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062628
Gene: ENSMUSG00000048706
AA Change: S196N

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

Meta Mutation Damage Score

0.0809

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap12	T	C	18: 6,111,734 (GRCm39)	D210G	probably damaging	Het
Baz2b	A	T	2: 59,928,801 (GRCm39)		probably benign	Het
Bcl9	A	G	3: 97,120,999 (GRCm39)		probably null	Het
Cfap20	A	T	8: 96,151,284 (GRCm39)	I19N	probably damaging	Het
Clnk	T	A	5: 38,905,193 (GRCm39)		probably benign	Het
Col18a1	C	T	10: 76,894,675 (GRCm39)		probably null	Het
Cux2	C	T	5: 122,006,555 (GRCm39)	G905D	probably damaging	Het
Ddx1	A	T	12: 13,281,504 (GRCm39)	L353*	probably null	Het
Ddx59	T	A	1: 136,367,599 (GRCm39)	S569T	probably benign	Het
Des	C	G	1: 75,339,228 (GRCm39)	A251G	probably benign	Het
Dnajc21	T	C	15: 10,460,019 (GRCm39)		probably null	Het
Fam217a	T	C	13: 35,094,239 (GRCm39)	T416A	possibly damaging	Het
Gbp9	T	A	5: 105,231,461 (GRCm39)	Q375L	probably benign	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
H2-T24	A	T	17: 36,326,376 (GRCm39)	N174K	possibly damaging	Het
Heatr3	T	C	8: 88,897,630 (GRCm39)		probably benign	Het
Naaa	C	T	5: 92,420,413 (GRCm39)		probably null	Het
Nbea	A	G	3: 55,915,848 (GRCm39)	C875R	probably damaging	Het
Nme1	G	A	11: 93,851,630 (GRCm39)	T87I	probably benign	Het
Nphp3	T	C	9: 103,915,663 (GRCm39)	S124P	probably benign	Het
Nrap	C	T	19: 56,338,759 (GRCm39)	V907M	probably damaging	Het
Or1o2	T	G	17: 37,542,739 (GRCm39)	H174P	possibly damaging	Het
Or4f59	G	T	2: 111,872,873 (GRCm39)	P168Q	probably damaging	Het
Pcdhga8	A	G	18: 37,860,336 (GRCm39)	N464S	probably damaging	Het
Pdcd6ip	T	C	9: 113,529,078 (GRCm39)	I75V	probably benign	Het
Ralgapa2	G	A	2: 146,277,914 (GRCm39)	P416S	probably damaging	Het
Saal1	A	G	7: 46,360,076 (GRCm39)		probably benign	Het
Susd5	A	G	9: 113,925,053 (GRCm39)	E312G	probably benign	Het
Tgfb2	T	A	1: 186,361,222 (GRCm39)	D315V	possibly damaging	Het
Tll1	C	T	8: 64,494,545 (GRCm39)	D737N	probably damaging	Het
Tmem115	A	G	9: 107,412,482 (GRCm39)	T269A	probably damaging	Het
Ttc39b	T	C	4: 83,155,538 (GRCm39)	D490G	probably damaging	Het
Vmn1r72	C	T	7: 11,403,995 (GRCm39)	R151K	probably benign	Het
Vmn2r74	A	T	7: 85,606,395 (GRCm39)	F317Y	possibly damaging	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Zfp560	A	G	9: 20,258,744 (GRCm39)	I706T	probably benign	Het
Zfp982	A	G	4: 147,597,150 (GRCm39)	K169R	probably benign	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
R1356:Lurap1l	UTSW	4	80,829,767 (GRCm39)	missense	probably benign	0.00
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'- AGAGCATCGAGTCCATCAAGTG -3'
(R):5'- TCTGTGCTACTTTAAGAGAAGGGAG -3'

Sequencing Primer
(F):5'- ATTACCAGCCGAGGCAGCAG -3'
(R):5'- TAGGAGCAACAGAAATATCATTAAGC -3'

Posted On

2015-06-10