Mutagenetix > Incidental Mutations

Incidental Mutation 'R5574:Lrrc17'

437098

Institutional Source

Beutler Lab

Gene Symbol

Lrrc17

Ensembl Gene

ENSMUSG00000039883

Gene Name

leucine rich repeat containing 17

Synonyms

6130400C22Rik, 37kDa, 4833425M04Rik

MMRRC Submission

043129-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21543559-21575904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21570357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 306 (I306F)

Ref Sequence

ENSEMBL: ENSMUSP00000038569 (fasta)

Gene Model

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

AlphaFold

Q9CXD9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035651
AA Change: I306F

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038569
Gene: ENSMUSG00000039883
AA Change: I306F

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

Meta Mutation Damage Score

0.2808

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,142,756	N31I	possibly damaging	Het
3110002H16Rik	CTGTGTGTT	CTGTGTGTTGTGTGTT	18: 12,185,006		probably null	Het
Acvr1b	T	A	15: 101,202,077	M304K	probably benign	Het
Adamts1	G	T	16: 85,799,642	D106E	probably damaging	Het
Blm	C	A	7: 80,499,773	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,217,118		noncoding transcript	Het
C87499	T	G	4: 88,628,043	E354A	probably benign	Het
Ccdc171	A	T	4: 83,693,753	N895I	probably damaging	Het
Cdhr4	A	T	9: 107,993,328		probably benign	Het
Cfap97	T	C	8: 46,170,142	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,793,683		probably benign	Het
Clns1a	A	G	7: 97,720,958		probably benign	Het
Col8a2	G	A	4: 126,311,268		probably benign	Het
Cr2	T	A	1: 195,141,236	E721V	probably damaging	Het
Csk	A	G	9: 57,629,301	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,820,740	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 32,929,205	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,329,821	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,233,650	T113S	probably benign	Het
Edem2	T	C	2: 155,716,155	E186G	probably damaging	Het
Eya2	G	A	2: 165,763,816	R380H	probably damaging	Het
Fam214a	A	T	9: 75,010,390	D757V	probably damaging	Het
Fam60a	C	T	6: 148,944,880		probably benign	Het
Gldn	A	G	9: 54,312,922	T132A	probably damaging	Het
Gm13941	A	T	2: 111,100,606	I74K	unknown	Het
Gm3898	C	T	9: 43,830,042		noncoding transcript	Het
Ighmbp2	C	T	19: 3,271,536	V408I	probably benign	Het
Klhdc10	C	T	6: 30,439,865	L127F	possibly damaging	Het
Letm1	G	A	5: 33,769,386	T189M	possibly damaging	Het
Lrrk2	T	A	15: 91,787,016	V2000E	probably damaging	Het
Mettl9	A	T	7: 121,047,870	E66D	probably benign	Het
Mroh1	T	A	15: 76,433,931	V877D	probably benign	Het
Mycbp2	C	T	14: 103,142,767	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,368,861	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Obp2a	A	T	2: 25,700,830	T70S	possibly damaging	Het
Olfr1040	T	C	2: 86,146,191	D181G	probably damaging	Het
Olfr1100	A	G	2: 86,978,523	V91A	probably benign	Het
Olfr1245	C	T	2: 89,574,977	V250I	possibly damaging	Het
Olfr145	A	T	9: 37,897,581	Y59F	probably damaging	Het
Olfr69	T	G	7: 103,768,116	I94L	possibly damaging	Het
Pate2	A	G	9: 35,686,115		probably benign	Het
Pdzph1	A	G	17: 58,973,947	F447L	probably benign	Het
Pias1	A	G	9: 62,920,493	C211R	probably damaging	Het
Plb1	A	G	5: 32,329,947	S929G	probably benign	Het
Prc1	G	A	7: 80,294,542		probably benign	Het
Prex2	A	G	1: 11,140,058	D574G	probably damaging	Het
Rapgef4	G	A	2: 72,034,120		probably null	Het
Rock2	T	C	12: 16,961,641	M690T	possibly damaging	Het
Slc18a2	A	G	19: 59,261,405	I25V	probably benign	Het
Slc9a5	T	A	8: 105,364,691	I701K	probably benign	Het
Sorcs1	T	A	19: 50,222,133	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,450,115	I698L	probably benign	Het
Stam	A	G	2: 14,115,864	D58G	probably damaging	Het
Thsd4	C	A	9: 59,972,400	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,711,024	T2911A	probably benign	Het
Trpm7	A	C	2: 126,813,030	F1329L	probably benign	Het
Ttll9	A	G	2: 152,984,248	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,805,329	V258M	probably benign	Het
Unc45a	G	A	7: 80,334,856	A232V	probably damaging	Het
Utp14b	G	A	1: 78,666,409	V675M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,891	H279L	probably benign	Het
Vmn2r75	G	T	7: 86,166,302	A118E	probably benign	Het
Wdr36	A	T	18: 32,865,959	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,719,291	Y27*	probably null	Het
Zfp715	A	T	7: 43,311,039	S43T	possibly damaging	Het
Zfyve26	A	G	12: 79,239,924	S2297P	possibly damaging	Het

Other mutations in Lrrc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Lrrc17	APN	5	21575271	missense	probably benign	0.05
IGL01289:Lrrc17	APN	5	21560901	missense	probably damaging	1.00
IGL01549:Lrrc17	APN	5	21570290	missense	probably benign	0.00
IGL02105:Lrrc17	APN	5	21570257	missense	probably benign	0.30
IGL02371:Lrrc17	APN	5	21560996	missense	probably damaging	1.00
IGL02412:Lrrc17	APN	5	21560879	missense	possibly damaging	0.68
IGL02587:Lrrc17	APN	5	21561080	missense	probably damaging	1.00
R0255:Lrrc17	UTSW	5	21560969	missense	probably benign	0.09
R0504:Lrrc17	UTSW	5	21560530	missense	probably benign	0.05
R0883:Lrrc17	UTSW	5	21561278	missense	probably benign	0.06
R1875:Lrrc17	UTSW	5	21560652	missense	possibly damaging	0.85
R2168:Lrrc17	UTSW	5	21575048	missense	probably damaging	0.97
R5057:Lrrc17	UTSW	5	21575309	missense	probably benign	0.25
R5326:Lrrc17	UTSW	5	21575158	missense	probably damaging	0.99
R5542:Lrrc17	UTSW	5	21575158	missense	probably damaging	0.99
R5872:Lrrc17	UTSW	5	21575266	missense	probably benign	0.01
R7108:Lrrc17	UTSW	5	21575339	missense	possibly damaging	0.93
R7715:Lrrc17	UTSW	5	21561080	missense	probably damaging	1.00
R7766:Lrrc17	UTSW	5	21561044	missense	probably benign	0.03
R8079:Lrrc17	UTSW	5	21561071	missense	probably damaging	0.99
R8121:Lrrc17	UTSW	5	21570331	missense	probably benign	0.00
R9067:Lrrc17	UTSW	5	21561035	missense	probably benign	0.10
X0026:Lrrc17	UTSW	5	21561020	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGCAGCCTCTCAGGATTAATAG -3'
(R):5'- CACATCTGAGTGTCTAACAATCCC -3'

Sequencing Primer
(F):5'- AGCCTCTCAGGATTAATAGAAACTAG -3'
(R):5'- CTATAGGTGTTGCCACAGAA -3'

Posted On

2016-10-26