Mutagenetix > Incidental Mutation

Incidental Mutation 'R4183:Lurap1l'

319810

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

041019-MU

Accession Numbers

Essential gene?

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

Stock #

R4183 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd11	T	C	8: 123,626,415 (GRCm39)	I198V	possibly damaging	Het
Arhgap12	T	C	18: 6,111,734 (GRCm39)	D210G	probably damaging	Het
Arpc2	T	A	1: 74,287,322 (GRCm39)	N31K	probably damaging	Het
Atp11a	T	A	8: 12,866,990 (GRCm39)	V139D	possibly damaging	Het
Bicral	T	C	17: 47,124,955 (GRCm39)	K615E	probably damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,120,763 (GRCm39)		probably benign	Het
Chrnb1	T	C	11: 69,677,922 (GRCm39)	M277V	possibly damaging	Het
Csmd1	C	T	8: 15,960,464 (GRCm39)	C3317Y	probably damaging	Het
Ddx1	A	T	12: 13,281,504 (GRCm39)	L353*	probably null	Het
Degs2	T	C	12: 108,658,358 (GRCm39)	K207R	probably damaging	Het
Fam167a	T	C	14: 63,689,769 (GRCm39)	V22A	probably benign	Het
Fam186a	G	A	15: 99,831,566 (GRCm39)		probably benign	Het
Gprc5b	T	C	7: 118,583,749 (GRCm39)	D40G	probably benign	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
Inpp5j	A	G	11: 3,451,134 (GRCm39)	I505T	probably damaging	Het
Mapk8	T	C	14: 33,104,177 (GRCm39)	D413G	probably damaging	Het
Mapkbp1	A	G	2: 119,848,346 (GRCm39)	D632G	probably damaging	Het
Mcidas	A	G	13: 113,130,906 (GRCm39)	D77G	probably damaging	Het
Mdga1	A	G	17: 30,188,964 (GRCm39)	V33A	unknown	Het
Me3	A	G	7: 89,501,038 (GRCm39)	D583G	probably benign	Het
Mndal	T	A	1: 173,703,337 (GRCm39)	T23S	possibly damaging	Het
Myh13	T	C	11: 67,240,436 (GRCm39)	M780T	possibly damaging	Het
Nat10	A	G	2: 103,570,158 (GRCm39)	L395P	probably damaging	Het
Naxd	T	C	8: 11,552,757 (GRCm39)	V59A	probably damaging	Het
Nbeal2	A	T	9: 110,465,743 (GRCm39)	V876E	probably benign	Het
Or11h4b	C	G	14: 50,918,507 (GRCm39)	E195Q	probably benign	Het
Or1o2	T	G	17: 37,542,739 (GRCm39)	H174P	possibly damaging	Het
Or4a39	T	C	2: 89,236,935 (GRCm39)	T163A	probably benign	Het
Or51v8	T	C	7: 103,320,178 (GRCm39)	Y20C	possibly damaging	Het
Or8g50	A	G	9: 39,648,344 (GRCm39)	T78A	probably benign	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk4	C	T	10: 80,160,845 (GRCm39)	R327Q	probably benign	Het
Pkhd1	C	T	1: 20,188,031 (GRCm39)	V3426I	probably benign	Het
Ranbp2	T	C	10: 58,301,488 (GRCm39)	F687L	possibly damaging	Het
Rb1	A	G	14: 73,435,966 (GRCm39)		probably null	Het
Tfpi2	C	A	6: 3,963,926 (GRCm39)	V51L	probably damaging	Het
Tnn	T	C	1: 159,924,925 (GRCm39)	D1143G	probably damaging	Het
Ttn	A	G	2: 76,541,586 (GRCm39)	M25473T	probably benign	Het
Vmn1r201	A	G	13: 22,659,022 (GRCm39)	I79V	probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Wdr25	T	A	12: 108,993,257 (GRCm39)	F491Y	probably benign	Het
Zfp972	G	A	2: 177,563,250 (GRCm39)	Q56*	probably null	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
R4182: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