Mutagenetix > Incidental Mutation

Incidental Mutation 'R1157:Lrrk1'

101805

Institutional Source

Beutler Lab

Gene Symbol

Lrrk1

Ensembl Gene

ENSMUSG00000015133

Gene Name

leucine-rich repeat kinase 1

Synonyms

D130026O16Rik, C230002E15Rik

MMRRC Submission

039230-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1157 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65908493-66038089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65912031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1843 (Y1843C)

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: Y1843C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: Y1843C

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

noncoding transcript
Transcript: ENSMUST00000131239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137181

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167705

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	C	A	3: 95,590,971 (GRCm39)	S332I	possibly damaging	Het
Alpl	A	G	4: 137,481,331 (GRCm39)	V107A	probably damaging	Het
Baz1a	A	T	12: 54,976,349 (GRCm39)	F442L	probably damaging	Het
Cachd1	T	A	4: 100,832,037 (GRCm39)	M733K	possibly damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cenpf	A	T	1: 189,390,650 (GRCm39)	C1061S	probably benign	Het
Crispld1	G	A	1: 17,815,587 (GRCm39)	V90M	possibly damaging	Het
Ergic1	T	A	17: 26,833,369 (GRCm39)	L41Q	probably damaging	Het
Fhod3	C	T	18: 25,118,293 (GRCm39)	A210V	probably damaging	Het
Gas2l2	G	A	11: 83,314,154 (GRCm39)	P386L	probably benign	Het
Gm21726	T	C	13: 90,731,724 (GRCm39)		noncoding transcript	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Iqsec1	A	G	6: 90,646,366 (GRCm39)	V771A	possibly damaging	Het
Klhl29	T	C	12: 5,140,650 (GRCm39)	N664S	possibly damaging	Het
Krit1	T	C	5: 3,882,176 (GRCm39)	Y659H	probably damaging	Het
Lap3	T	A	5: 45,664,490 (GRCm39)	D373E	probably damaging	Het
Lrrc7	A	G	3: 157,865,892 (GRCm39)	I1283T	probably damaging	Het
Mapre1	T	A	2: 153,599,937 (GRCm39)	D120E	probably benign	Het
Mgp	A	T	6: 136,850,204 (GRCm39)	M44K	possibly damaging	Het
Mrps25	A	T	6: 92,160,947 (GRCm39)	M3K	probably damaging	Het
Myo3a	G	T	2: 22,434,456 (GRCm39)		probably null	Het
Nedd9	C	T	13: 41,467,979 (GRCm39)		probably null	Het
Or52e4	A	G	7: 104,706,091 (GRCm39)	I213V	probably benign	Het
Or6c8b	T	G	10: 128,882,027 (GRCm39)	T302P	probably benign	Het
Or7c19	G	T	8: 85,957,889 (GRCm39)	C255F	probably damaging	Het
Pate12	G	A	9: 36,344,143 (GRCm39)	C42Y	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pigs	T	C	11: 78,219,820 (GRCm39)	V65A	possibly damaging	Het
Pip5k1a	G	A	3: 94,985,423 (GRCm39)	T60I	probably benign	Het
Rp9	A	T	9: 22,370,036 (GRCm39)	Y44N	probably damaging	Het
Tcea1	T	A	1: 4,959,670 (GRCm39)		probably null	Het
Trim33	C	T	3: 103,261,146 (GRCm39)	T1098I	probably damaging	Het
Vmn2r114	T	A	17: 23,529,314 (GRCm39)	I263F	possibly damaging	Het
Wdr12	A	T	1: 60,117,389 (GRCm39)	S402R	probably damaging	Het
Zfp619	A	G	7: 39,186,282 (GRCm39)	S771G	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
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
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

Posted On

2014-01-15