Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02587:Lrrc17'

299590

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc17

Ensembl Gene

ENSMUSG00000039883

Gene Name

leucine rich repeat containing 17

Synonyms

4833425M04Rik, 37kDa, 6130400C22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02587

Quality Score

Status

Chromosome

Chromosomal Location

21748557-21780902 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21766078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 187 (N187Y)

Ref Sequence

ENSEMBL: ENSMUSP00000038569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035651] [ENSMUST00000051358] [ENSMUST00000115234]

AlphaFold

Q9CXD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000035651
AA Change: N187Y

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

SMART Domains

Protein: ENSMUSP00000038569
Gene: ENSMUSG00000039883
AA Change: N187Y

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC
Blast:LRR	83	105	8e-6	BLAST
LRR	106	129	9.96e-1	SMART
LRR	130	153	1.07e0	SMART
LRRCT	165	215	8.98e-4	SMART
LRR	270	292	8.73e1	SMART
LRR	293	316	3.52e-1	SMART
LRR	317	340	7.55e-1	SMART
LRRCT	352	403	8.95e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000051358

SMART Domains

Protein: ENSMUSP00000052716
Gene: ENSMUSG00000048520

Domain	Start	End	E-Value	Type
low complexity region	160	173	N/A	INTRINSIC
FBOX	243	283	3.73e-4	SMART
LRR_CC	328	353	6.62e-6	SMART
LRR	354	378	3.67e2	SMART
LRR	379	404	2.75e-3	SMART
LRR	407	425	4.51e2	SMART
LRR	426	451	2.63e0	SMART
LRR	476	501	4.15e1	SMART
LRR	502	526	1.82e1	SMART
LRR	529	554	1.76e-1	SMART
LRR_CC	555	580	4.61e-5	SMART
LRR	604	629	8.81e-2	SMART
LRR	630	655	2.37e1	SMART
LRR	656	681	3.21e-4	SMART
LRR	682	707	6.57e-1	SMART
LRR	708	733	9.47e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115234

SMART Domains

Protein: ENSMUSP00000110889
Gene: ENSMUSG00000048520

Domain	Start	End	E-Value	Type
low complexity region	160	173	N/A	INTRINSIC
FBOX	243	283	3.73e-4	SMART
LRR_CC	328	353	6.62e-6	SMART
LRR	354	378	3.67e2	SMART
LRR	379	404	2.75e-3	SMART
LRR	407	432	6.88e-4	SMART
Blast:LRR	433	458	7e-8	BLAST
LRR	459	484	2.63e0	SMART
LRR	509	534	4.15e1	SMART
LRR	535	559	1.82e1	SMART
LRR	562	587	1.76e-1	SMART
LRR_CC	588	613	4.61e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137788

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	G	A	4: 144,429,969 (GRCm39)	T340I	possibly damaging	Het
Acot10	A	T	15: 20,665,883 (GRCm39)	V286E	possibly damaging	Het
Bpifa6	T	C	2: 153,831,130 (GRCm39)	L232P	probably damaging	Het
Calr4	A	G	4: 109,096,134 (GRCm39)	N104S	possibly damaging	Het
Cdc42bpa	A	G	1: 179,921,510 (GRCm39)	E550G	possibly damaging	Het
Cfhr4	G	A	1: 139,629,668 (GRCm39)	T712I	probably damaging	Het
D3Ertd751e	T	A	3: 41,708,287 (GRCm39)	N141K	probably benign	Het
Emilin2	A	G	17: 71,587,851 (GRCm39)		probably benign	Het
Eml6	T	C	11: 29,734,236 (GRCm39)	E1168G	possibly damaging	Het
Fbxo48	T	C	11: 16,903,659 (GRCm39)	I95T	probably benign	Het
Fpr3	A	T	17: 18,190,953 (GRCm39)	T75S	probably benign	Het
Gm5145	A	G	17: 20,791,452 (GRCm39)	K277E	probably damaging	Het
Gnao1	A	G	8: 94,677,067 (GRCm39)		probably benign	Het
Krt8	G	A	15: 101,907,367 (GRCm39)	R239C	probably benign	Het
Neil1	C	T	9: 57,052,263 (GRCm39)	R195H	probably damaging	Het
Nr2f1	C	A	13: 78,343,275 (GRCm39)		probably benign	Het
Pi4ka	C	A	16: 17,135,217 (GRCm39)	G946W	probably damaging	Het
Plcg2	A	T	8: 118,284,852 (GRCm39)	N159I	possibly damaging	Het
Rad54l	A	G	4: 115,962,994 (GRCm39)	Y335H	probably damaging	Het
Rgsl1	C	T	1: 153,675,684 (GRCm39)	R159H	probably damaging	Het
Scn11a	T	C	9: 119,634,750 (GRCm39)	D357G	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Timeless	A	G	10: 128,075,785 (GRCm39)	M6V	probably damaging	Het
Vps16	T	C	2: 130,281,636 (GRCm39)		probably null	Het
Zfp955b	C	A	17: 33,519,624 (GRCm39)	Q31K	probably damaging	Het

Other mutations in Lrrc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Lrrc17	APN	5	21,780,269 (GRCm39)	missense	probably benign	0.05
IGL01289:Lrrc17	APN	5	21,765,899 (GRCm39)	missense	probably damaging	1.00
IGL01549:Lrrc17	APN	5	21,775,288 (GRCm39)	missense	probably benign	0.00
IGL02105:Lrrc17	APN	5	21,775,255 (GRCm39)	missense	probably benign	0.30
IGL02371:Lrrc17	APN	5	21,765,994 (GRCm39)	missense	probably damaging	1.00
IGL02412:Lrrc17	APN	5	21,765,877 (GRCm39)	missense	possibly damaging	0.68
R0255:Lrrc17	UTSW	5	21,765,967 (GRCm39)	missense	probably benign	0.09
R0504:Lrrc17	UTSW	5	21,765,528 (GRCm39)	missense	probably benign	0.05
R0883:Lrrc17	UTSW	5	21,766,276 (GRCm39)	missense	probably benign	0.06
R1875:Lrrc17	UTSW	5	21,765,650 (GRCm39)	missense	possibly damaging	0.85
R2168:Lrrc17	UTSW	5	21,780,046 (GRCm39)	missense	probably damaging	0.97
R5057:Lrrc17	UTSW	5	21,780,307 (GRCm39)	missense	probably benign	0.25
R5326:Lrrc17	UTSW	5	21,780,156 (GRCm39)	missense	probably damaging	0.99
R5542:Lrrc17	UTSW	5	21,780,156 (GRCm39)	missense	probably damaging	0.99
R5574:Lrrc17	UTSW	5	21,775,355 (GRCm39)	missense	possibly damaging	0.90
R5872:Lrrc17	UTSW	5	21,780,264 (GRCm39)	missense	probably benign	0.01
R7108:Lrrc17	UTSW	5	21,780,337 (GRCm39)	missense	possibly damaging	0.93
R7715:Lrrc17	UTSW	5	21,766,078 (GRCm39)	missense	probably damaging	1.00
R7766:Lrrc17	UTSW	5	21,766,042 (GRCm39)	missense	probably benign	0.03
R8079:Lrrc17	UTSW	5	21,766,069 (GRCm39)	missense	probably damaging	0.99
R8121:Lrrc17	UTSW	5	21,775,329 (GRCm39)	missense	probably benign	0.00
R9067:Lrrc17	UTSW	5	21,766,033 (GRCm39)	missense	probably benign	0.10
X0026:Lrrc17	UTSW	5	21,766,018 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16