Mutagenetix > Incidental Mutation

Incidental Mutation 'R8126:Lrrk1'

631761

Institutional Source

Beutler Lab

Gene Symbol

Lrrk1

Ensembl Gene

ENSMUSG00000015133

Gene Name

leucine-rich repeat kinase 1

Synonyms

D130026O16Rik, C230002E15Rik

MMRRC Submission

067555-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65908493-66038089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65942063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 725 (N725S)

Ref Sequence

ENSEMBL: ENSMUSP00000015277 (fasta)

Gene Model

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

AlphaFold

Q3UHC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000015277
AA Change: N725S

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

SMART Domains

Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: N725S

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.0%
20x: 97.3%

Validation Efficiency

95% (42/44)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Aplp1	T	A	7: 30,141,164 (GRCm39)	D299V	probably damaging	Het
Atad2	T	C	15: 57,968,987 (GRCm39)	I841M	probably benign	Het
Bdp1	T	C	13: 100,192,790 (GRCm39)	E1348G	probably damaging	Het
Cacna1a	A	G	8: 85,359,881 (GRCm39)	T1948A	probably benign	Het
Cdh12	T	C	15: 21,558,393 (GRCm39)	Y431H	probably benign	Het
Cfap74	C	A	4: 155,511,831 (GRCm39)	D446E		Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Col4a4	T	C	1: 82,431,007 (GRCm39)	T1632A	unknown	Het
Csnk2a2	G	A	8: 96,182,575 (GRCm39)	P296L		Het
Cspg4b	T	A	13: 113,504,697 (GRCm39)	I1942N		Het
Cstl1	A	G	2: 148,596,591 (GRCm39)	E98G	probably benign	Het
Ddx49	A	T	8: 70,748,246 (GRCm39)	I303N	probably damaging	Het
Ddx60	C	T	8: 62,436,945 (GRCm39)	A965V	probably benign	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Gm14295	A	G	2: 176,502,658 (GRCm39)	D716G	probably benign	Het
Gsap	T	A	5: 21,475,010 (GRCm39)	H556Q	probably benign	Het
Hsp90b1	T	C	10: 86,530,246 (GRCm39)	I538V	probably damaging	Het
Ighv1-49	C	T	12: 115,019,230 (GRCm39)		probably benign	Het
Mfsd4b2	A	G	10: 39,797,984 (GRCm39)	S124P	probably benign	Het
Ncoa1	A	T	12: 4,340,951 (GRCm39)	L827Q	probably damaging	Het
Ncor2	T	C	5: 125,183,268 (GRCm39)	N59D	unknown	Het
Nfkbid	T	A	7: 30,123,799 (GRCm39)	S120T	probably benign	Het
Nktr	T	C	9: 121,575,514 (GRCm39)	Y341H	probably damaging	Het
Npat	T	C	9: 53,463,634 (GRCm39)	V139A	probably benign	Het
Or5ae1	T	A	7: 84,565,114 (GRCm39)	N42K	probably damaging	Het
Plxnb2	T	C	15: 89,047,506 (GRCm39)	D721G	probably benign	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ppp3ca	T	A	3: 136,608,952 (GRCm39)	D348E	probably damaging	Het
Pramel21	T	A	4: 143,343,635 (GRCm39)	C312S	possibly damaging	Het
Rnf146	T	C	10: 29,223,372 (GRCm39)	I171M	probably damaging	Het
Snrpa	G	T	7: 26,892,373 (GRCm39)	F62L	possibly damaging	Het
Spata3	C	T	1: 85,952,075 (GRCm39)	R110C	unknown	Het
Tbc1d2b	T	C	9: 90,104,369 (GRCm39)	H591R	probably benign	Het
Tnfsf8	T	G	4: 63,752,423 (GRCm39)	D214A	possibly damaging	Het
Trdmt1	C	T	2: 13,524,816 (GRCm39)	R213H	probably benign	Het
Uspl1	C	T	5: 149,151,430 (GRCm39)	L877F	probably damaging	Het
Vmn1r22	C	A	6: 57,877,669 (GRCm39)	V103F	possibly damaging	Het
Vmn2r102	T	C	17: 19,880,712 (GRCm39)	S18P	probably benign	Het
Vmn2r-ps117	A	T	17: 19,042,814 (GRCm39)	Y74F	probably benign	Het
Wdr90	A	G	17: 26,067,951 (GRCm39)	F1429S	possibly damaging	Het
Zdhhc20	C	A	14: 58,084,402 (GRCm39)	V238F	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
R8037:Lrrk1	UTSW	7	65,935,089 (GRCm39)	missense	probably benign
R8101:Lrrk1	UTSW	7	65,992,530 (GRCm39)	missense	probably benign
R8116:Lrrk1	UTSW	7	65,912,371 (GRCm39)	missense	possibly damaging	0.95
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'- ACACTGACTGAGCCCTTGAG -3'
(R):5'- TTTCCAGATGCGTTCCAAGTTG -3'

Sequencing Primer
(F):5'- TGGGGGAGCCCTTCAACAAG -3'
(R):5'- CGTTCCAAGTTGTACGTTTTATTG -3'

Posted On

2020-06-30