Mutagenetix > Incidental Mutation

Incidental Mutation 'R8037:Lrrk1'

618291

Institutional Source

Beutler Lab

Gene Symbol

Lrrk1

Ensembl Gene

ENSMUSG00000015133

Gene Name

leucine-rich repeat kinase 1

Synonyms

D130026O16Rik, C230002E15Rik

MMRRC Submission

067474-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65908493-66038089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65935089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1010 (M1010K)

Ref Sequence

ENSEMBL: ENSMUSP00000015277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015277] [ENSMUST00000145954]

AlphaFold

Q3UHC2

Predicted Effect

probably benign
Transcript: ENSMUST00000015277
AA Change: M1010K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: M1010K

Domain	Start	End	E-Value	Type
ANK	86	116	9.33e2	SMART
ANK	119	148	1.14e2	SMART
ANK	152	182	8.36e1	SMART
ANK	193	223	2.6e1	SMART
LRR	278	300	2.84e2	SMART
LRR	301	325	7.79e0	SMART
LRR	328	351	3.27e1	SMART
LRR_TYP	379	401	2.53e-2	SMART
LRR	403	427	5.89e1	SMART
LRR	472	493	5.27e1	SMART
LRR	548	569	2.92e2	SMART
LRR	570	594	5.88e0	SMART
Pfam:Arf	625	786	2e-8	PFAM
Pfam:Roc	640	761	3.1e-24	PFAM
Pfam:Ras	640	782	2.2e-7	PFAM
Pfam:COR	844	1046	4.7e-26	PFAM
low complexity region	1109	1119	N/A	INTRINSIC
low complexity region	1209	1222	N/A	INTRINSIC
Pfam:Pkinase	1243	1521	7.8e-40	PFAM
Pfam:Pkinase_Tyr	1244	1520	9.4e-39	PFAM
low complexity region	1642	1654	N/A	INTRINSIC
low complexity region	1839	1846	N/A	INTRINSIC
low complexity region	1852	1871	N/A	INTRINSIC
low complexity region	1957	1970	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145954

SMART Domains

Protein: ENSMUSP00000114938
Gene: ENSMUSG00000015133

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
low complexity region	124	137	N/A	INTRINSIC
Pfam:Pkinase	158	435	6.6e-46	PFAM
Pfam:Pkinase_Tyr	159	435	5.8e-40	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality. Mice homozygous for another knock-out allele exhibit severe osteopetrosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,243,904 (GRCm39)	W1922C	probably damaging	Het
Acad11	T	A	9: 103,953,035 (GRCm39)	I88N	possibly damaging	Het
Adgrf3	A	T	5: 30,404,510 (GRCm39)	C309S	probably damaging	Het
Ankhd1	T	A	18: 36,771,676 (GRCm39)	V1343E	probably damaging	Het
Aqr	A	T	2: 113,992,161 (GRCm39)	Y72N	probably damaging	Het
Bptf	T	C	11: 106,946,776 (GRCm39)	T2339A	probably damaging	Het
Ccdc121rt3	A	G	5: 112,502,882 (GRCm39)	V274A	probably benign	Het
Ccr8	T	C	9: 119,923,436 (GRCm39)	F184L	probably benign	Het
Dbh	A	G	2: 27,055,700 (GRCm39)	D58G	probably damaging	Het
Depdc5	T	C	5: 33,116,692 (GRCm39)		probably null	Het
Dhdds	G	A	4: 133,724,158 (GRCm39)	T52I	probably benign	Het
Dnmt1	A	C	9: 20,852,860 (GRCm39)	V82G	probably damaging	Het
Efemp2	C	T	19: 5,530,141 (GRCm39)	Q290*	probably null	Het
Eipr1	A	G	12: 28,914,676 (GRCm39)	S277G	probably benign	Het
Fam110b	A	G	4: 5,799,511 (GRCm39)	I310V	possibly damaging	Het
Foxn4	T	C	5: 114,394,658 (GRCm39)	D423G	probably damaging	Het
Fsip2	T	A	2: 82,816,322 (GRCm39)	N4018K	possibly damaging	Het
Gm12887	T	A	4: 121,472,887 (GRCm39)	D85V	probably damaging	Het
Gys2	A	G	6: 142,394,119 (GRCm39)	V473A	probably benign	Het
Hnrnpu	A	T	1: 178,159,917 (GRCm39)	F388Y	unknown	Het
Hoxa5	A	G	6: 52,181,309 (GRCm39)	S8P	probably damaging	Het
Ier5	A	T	1: 154,975,175 (GRCm39)	M1K	probably null	Het
Ighv1-52	A	G	12: 115,109,210 (GRCm39)	F83S	probably damaging	Het
Lrch1	T	C	14: 75,023,794 (GRCm39)	D577G	probably damaging	Het
Mttp	T	G	3: 137,796,883 (GRCm39)	N873T	probably damaging	Het
Nphs2	A	G	1: 156,138,400 (GRCm39)	R15G	possibly damaging	Het
Or4a70	A	T	2: 89,324,055 (GRCm39)	N200K	possibly damaging	Het
Or5d16	T	C	2: 87,773,319 (GRCm39)	T218A	probably benign	Het
Or8d6	T	A	9: 39,854,177 (GRCm39)	V207D	probably damaging	Het
Pcdhga8	T	C	18: 37,860,071 (GRCm39)	S376P	probably damaging	Het
Pde3a	A	G	6: 141,429,650 (GRCm39)	N737S	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgap6	T	C	17: 26,336,509 (GRCm39)	L209P	possibly damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rin1	T	A	19: 5,101,852 (GRCm39)	L179Q	probably damaging	Het
Sec63	T	A	10: 42,659,483 (GRCm39)	M57K	probably benign	Het
Senp2	C	T	16: 21,832,888 (GRCm39)	Q59*	probably null	Het
St8sia5	G	A	18: 77,336,238 (GRCm39)	V224I	possibly damaging	Het
Sycp2	A	T	2: 178,045,571 (GRCm39)	D16E	probably damaging	Het
Tab1	A	G	15: 80,044,471 (GRCm39)	T500A	probably benign	Het
Tead1	A	G	7: 112,358,727 (GRCm39)	D13G	possibly damaging	Het
Tecpr2	T	C	12: 110,902,854 (GRCm39)	F860L	probably benign	Het
Tg	A	G	15: 66,560,724 (GRCm39)	M1029V	probably benign	Het
Tnni2	A	G	7: 141,997,691 (GRCm39)	R109G	probably damaging	Het
Unc79	A	G	12: 103,016,178 (GRCm39)	K320R	probably damaging	Het
Vmn1r9	T	A	6: 57,047,988 (GRCm39)	V21D	probably benign	Het
Zfp64	A	G	2: 168,741,932 (GRCm39)	F332S	probably damaging	Het

Other mutations in Lrrk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Lrrk1	APN	7	65,937,449 (GRCm39)	missense	probably damaging	1.00
IGL01511:Lrrk1	APN	7	65,915,198 (GRCm39)	missense	possibly damaging	0.48
IGL02337:Lrrk1	APN	7	65,929,164 (GRCm39)	missense	possibly damaging	0.92
IGL02636:Lrrk1	APN	7	65,958,407 (GRCm39)	critical splice donor site	probably null
IGL02679:Lrrk1	APN	7	65,924,620 (GRCm39)	missense	probably damaging	1.00
IGL02711:Lrrk1	APN	7	65,980,515 (GRCm39)	missense	probably damaging	1.00
IGL02742:Lrrk1	APN	7	65,958,439 (GRCm39)	missense	probably benign	0.12
IGL02878:Lrrk1	APN	7	65,912,311 (GRCm39)	missense	probably benign
IGL03135:Lrrk1	APN	7	65,912,638 (GRCm39)	missense	probably benign	0.00
IGL03191:Lrrk1	APN	7	65,909,707 (GRCm39)	missense	probably damaging	0.99
IGL03198:Lrrk1	APN	7	65,956,642 (GRCm39)	missense	probably damaging	1.00
combustion	UTSW	7	65,912,413 (GRCm39)	missense	possibly damaging	0.94
fluorine	UTSW	7	65,952,458 (GRCm39)	missense	possibly damaging	0.89
halide	UTSW	7	65,915,222 (GRCm39)	missense	possibly damaging	0.82
Heiland	UTSW	7	65,912,481 (GRCm39)	missense	probably damaging	0.96
liebster	UTSW	7	65,944,729 (GRCm39)	missense	probably damaging	1.00
magi	UTSW	7	65,931,396 (GRCm39)	missense	probably damaging	1.00
oxidation	UTSW	7	65,929,120 (GRCm39)	missense	probably benign	0.00
phlogiston	UTSW	7	65,928,268 (GRCm39)	splice site	probably benign
Savior	UTSW	7	65,912,235 (GRCm39)	missense	probably damaging	1.00
wenig	UTSW	7	65,922,749 (GRCm39)	missense	probably damaging	1.00
R0105:Lrrk1	UTSW	7	65,942,089 (GRCm39)	missense	probably damaging	1.00
R0105:Lrrk1	UTSW	7	65,942,089 (GRCm39)	missense	probably damaging	1.00
R0276:Lrrk1	UTSW	7	65,946,011 (GRCm39)	splice site	probably benign
R0505:Lrrk1	UTSW	7	65,940,656 (GRCm39)	splice site	probably null
R0609:Lrrk1	UTSW	7	65,916,363 (GRCm39)	splice site	probably null
R0650:Lrrk1	UTSW	7	65,942,084 (GRCm39)	missense	probably damaging	1.00
R0676:Lrrk1	UTSW	7	65,944,729 (GRCm39)	missense	probably damaging	1.00
R1157:Lrrk1	UTSW	7	65,912,031 (GRCm39)	missense	probably benign	0.00
R1435:Lrrk1	UTSW	7	65,922,776 (GRCm39)	missense	probably damaging	1.00
R1468:Lrrk1	UTSW	7	65,909,722 (GRCm39)	missense	probably damaging	1.00
R1468:Lrrk1	UTSW	7	65,909,722 (GRCm39)	missense	probably damaging	1.00
R1498:Lrrk1	UTSW	7	65,952,419 (GRCm39)	nonsense	probably null
R1620:Lrrk1	UTSW	7	66,031,286 (GRCm39)	missense	probably benign	0.00
R1884:Lrrk1	UTSW	7	65,912,185 (GRCm39)	missense	probably benign
R1891:Lrrk1	UTSW	7	65,929,048 (GRCm39)	missense	probably damaging	1.00
R1989:Lrrk1	UTSW	7	65,931,432 (GRCm39)	missense	probably damaging	1.00
R2107:Lrrk1	UTSW	7	65,929,030 (GRCm39)	missense	probably damaging	1.00
R2140:Lrrk1	UTSW	7	65,980,498 (GRCm39)	missense	probably damaging	1.00
R2144:Lrrk1	UTSW	7	65,945,911 (GRCm39)	missense	probably damaging	0.98
R2147:Lrrk1	UTSW	7	65,935,159 (GRCm39)	splice site	probably null
R3176:Lrrk1	UTSW	7	65,955,269 (GRCm39)	missense	possibly damaging	0.69
R3276:Lrrk1	UTSW	7	65,955,269 (GRCm39)	missense	possibly damaging	0.69
R3886:Lrrk1	UTSW	7	65,942,112 (GRCm39)	missense	probably damaging	1.00
R3893:Lrrk1	UTSW	7	65,928,268 (GRCm39)	splice site	probably benign
R3906:Lrrk1	UTSW	7	65,944,651 (GRCm39)	missense	possibly damaging	0.84
R4259:Lrrk1	UTSW	7	65,980,512 (GRCm39)	missense	probably damaging	1.00
R4649:Lrrk1	UTSW	7	65,922,801 (GRCm39)	missense	probably benign	0.12
R4653:Lrrk1	UTSW	7	65,922,801 (GRCm39)	missense	probably benign	0.12
R4672:Lrrk1	UTSW	7	65,929,120 (GRCm39)	missense	probably benign	0.00
R4693:Lrrk1	UTSW	7	65,912,235 (GRCm39)	missense	probably damaging	1.00
R4729:Lrrk1	UTSW	7	65,912,041 (GRCm39)	missense	probably benign
R4737:Lrrk1	UTSW	7	65,956,621 (GRCm39)	missense	probably benign	0.09
R4795:Lrrk1	UTSW	7	65,912,413 (GRCm39)	missense	possibly damaging	0.94
R4911:Lrrk1	UTSW	7	65,945,202 (GRCm39)	missense	probably damaging	0.97
R5002:Lrrk1	UTSW	7	65,982,111 (GRCm39)	missense	probably damaging	1.00
R5254:Lrrk1	UTSW	7	65,956,855 (GRCm39)	missense	probably benign	0.00
R5407:Lrrk1	UTSW	7	65,920,545 (GRCm39)	missense	probably benign	0.20
R5482:Lrrk1	UTSW	7	65,980,418 (GRCm39)	missense	probably benign
R5600:Lrrk1	UTSW	7	65,956,963 (GRCm39)	missense	probably benign	0.31
R5615:Lrrk1	UTSW	7	65,937,363 (GRCm39)	missense	probably damaging	1.00
R6041:Lrrk1	UTSW	7	65,911,881 (GRCm39)	missense	probably benign
R6211:Lrrk1	UTSW	7	65,952,458 (GRCm39)	missense	possibly damaging	0.89
R6271:Lrrk1	UTSW	7	65,956,851 (GRCm39)	critical splice donor site	probably null
R6276:Lrrk1	UTSW	7	65,956,587 (GRCm39)	splice site	probably null
R6447:Lrrk1	UTSW	7	65,952,476 (GRCm39)	missense	probably benign	0.19
R6478:Lrrk1	UTSW	7	65,912,481 (GRCm39)	missense	probably damaging	0.96
R6615:Lrrk1	UTSW	7	65,931,396 (GRCm39)	missense	probably damaging	1.00
R6745:Lrrk1	UTSW	7	65,922,749 (GRCm39)	missense	probably damaging	1.00
R6836:Lrrk1	UTSW	7	65,992,527 (GRCm39)	missense	probably benign	0.05
R6995:Lrrk1	UTSW	7	65,942,090 (GRCm39)	missense	probably damaging	1.00
R7107:Lrrk1	UTSW	7	65,937,191 (GRCm39)	missense	possibly damaging	0.94
R7137:Lrrk1	UTSW	7	65,935,027 (GRCm39)	missense	probably benign	0.06
R7203:Lrrk1	UTSW	7	65,920,573 (GRCm39)	missense	probably damaging	1.00
R7224:Lrrk1	UTSW	7	65,982,134 (GRCm39)	missense	probably damaging	0.99
R7239:Lrrk1	UTSW	7	65,911,903 (GRCm39)	missense	probably benign
R7440:Lrrk1	UTSW	7	65,940,602 (GRCm39)	missense	probably damaging	1.00
R7515:Lrrk1	UTSW	7	65,912,310 (GRCm39)	missense	probably benign
R7593:Lrrk1	UTSW	7	65,958,439 (GRCm39)	missense	probably benign	0.12
R7728:Lrrk1	UTSW	7	65,912,463 (GRCm39)	missense	probably benign	0.00
R7984:Lrrk1	UTSW	7	65,950,477 (GRCm39)	splice site	probably null
R7993:Lrrk1	UTSW	7	65,912,202 (GRCm39)	missense	probably benign	0.00
R8009:Lrrk1	UTSW	7	65,915,222 (GRCm39)	missense	possibly damaging	0.82
R8101:Lrrk1	UTSW	7	65,992,530 (GRCm39)	missense	probably benign
R8116:Lrrk1	UTSW	7	65,912,371 (GRCm39)	missense	possibly damaging	0.95
R8126:Lrrk1	UTSW	7	65,942,063 (GRCm39)	missense	probably damaging	1.00
R8278:Lrrk1	UTSW	7	65,928,432 (GRCm39)	missense	probably benign	0.37
R8559:Lrrk1	UTSW	7	65,932,075 (GRCm39)	missense	possibly damaging	0.48
R8669:Lrrk1	UTSW	7	65,912,344 (GRCm39)	missense	probably benign	0.20
R8690:Lrrk1	UTSW	7	65,952,477 (GRCm39)	missense	probably benign	0.02
R8955:Lrrk1	UTSW	7	65,919,573 (GRCm39)	missense	probably benign	0.09
R9135:Lrrk1	UTSW	7	65,928,357 (GRCm39)	missense	probably damaging	1.00
R9380:Lrrk1	UTSW	7	65,928,331 (GRCm39)	missense	probably damaging	1.00
R9625:Lrrk1	UTSW	7	65,909,666 (GRCm39)	makesense	probably null
R9721:Lrrk1	UTSW	7	65,924,623 (GRCm39)	missense	probably damaging	1.00
RF018:Lrrk1	UTSW	7	66,031,250 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TACAACTCTTCAGGAGGGCAAC -3'
(R):5'- CGCTCTAGTGTCTCGAACTC -3'

Sequencing Primer
(F):5'- CCTTCAGTTAGGTCTCACTAGCACAG -3'
(R):5'- CTAGTGTCTCGAACTCCGTAG -3'

Posted On

2020-01-23