Mutagenetix > Incidental Mutation

Incidental Mutation 'R5002:Lrrk1'

389995

Institutional Source

Beutler Lab

Gene Symbol

Lrrk1

Ensembl Gene

ENSMUSG00000015133

Gene Name

leucine-rich repeat kinase 1

Synonyms

MMRRC Submission

042596-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66226912-66388350 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66332363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 177 (G177W)

Ref Sequence

ENSEMBL: ENSMUSP00000015277 (fasta)

Gene Model

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

AlphaFold

Q3UHC2

Predicted Effect

probably damaging
Transcript: ENSMUST00000015277
AA Change: G177W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: G177W

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

Meta Mutation Damage Score

0.9069

Coding Region Coverage

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

Validation Efficiency

94% (44/47)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,961,797 (GRCm38)	P736S	probably damaging	Het
Apbb2	A	G	5: 66,313,325 (GRCm38)	I523T	possibly damaging	Het
Casq1	T	A	1: 172,213,378 (GRCm38)	D281V	possibly damaging	Het
Catsperb	T	C	12: 101,520,554 (GRCm38)	F447L	probably benign	Het
Cenpe	A	T	3: 135,247,081 (GRCm38)	M1511L	probably benign	Het
Cep128	T	C	12: 91,255,723 (GRCm38)		probably null	Het
Col6a6	T	C	9: 105,786,093 (GRCm38)	T82A	probably benign	Het
Dna2	A	G	10: 62,950,842 (GRCm38)	D123G	probably damaging	Het
Ergic2	A	G	6: 148,184,158 (GRCm38)	I281T	probably benign	Het
Fcgbp	T	A	7: 28,086,103 (GRCm38)		probably null	Het
Filip1l	T	C	16: 57,571,103 (GRCm38)	Y447H	probably benign	Het
Flnb	T	A	14: 7,945,882 (GRCm38)	M2429K	probably damaging	Het
Fn1	T	A	1: 71,629,728 (GRCm38)	Q686L	possibly damaging	Het
Gm10644	T	C	8: 83,933,587 (GRCm38)	D43G	possibly damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm38)	Y39C	probably benign	Het
Gpx6	A	G	13: 21,313,688 (GRCm38)	Y43C	probably damaging	Het
Hhat	A	T	1: 192,543,190 (GRCm38)	F494I	probably benign	Het
Itga9	C	A	9: 118,663,898 (GRCm38)	S287*	probably null	Het
Ltbp4	GT	G	7: 27,327,685 (GRCm38)		probably null	Het
Ms4a14	T	C	19: 11,304,289 (GRCm38)	I302V	probably benign	Het
Nepn	A	C	10: 52,391,754 (GRCm38)	M39L	probably benign	Het
Nfil3	C	A	13: 52,968,676 (GRCm38)	R64L	probably damaging	Het
Ociad1	T	C	5: 73,310,316 (GRCm38)	V199A	possibly damaging	Het
Or2r3	C	A	6: 42,471,972 (GRCm38)	V69L	probably benign	Het
Or8k3b	C	A	2: 86,690,085 (GRCm38)	V297L	possibly damaging	Het
Polk	A	G	13: 96,489,244 (GRCm38)	Y431H	probably damaging	Het
Prss33	C	T	17: 23,835,358 (GRCm38)		probably benign	Het
Semp2l2b	G	C	10: 22,067,817 (GRCm38)	P88R	probably damaging	Het
Slc12a7	A	G	13: 73,763,777 (GRCm38)	N4S	possibly damaging	Het
Slc29a4	A	T	5: 142,718,746 (GRCm38)	I348F	probably damaging	Het
Smarce1	T	C	11: 99,225,063 (GRCm38)	N44S	probably damaging	Het
Spast	C	T	17: 74,369,226 (GRCm38)	Q344*	probably null	Het
Stk11ip	C	A	1: 75,532,543 (GRCm38)		probably benign	Het
Tas2r131	T	C	6: 132,957,151 (GRCm38)	I232V	probably benign	Het
Tesk1	T	C	4: 43,444,573 (GRCm38)	Y126H	probably damaging	Het
Tmpo	A	G	10: 91,164,114 (GRCm38)	V164A	possibly damaging	Het
Ttc23l	G	T	15: 10,551,550 (GRCm38)	T30K	possibly damaging	Het
Vwc2l	T	G	1: 70,729,046 (GRCm38)	C43G	probably damaging	Het
Wnk1	G	A	6: 119,937,963 (GRCm38)	T1626I	probably benign	Het
Zpld2	T	A	4: 134,196,920 (GRCm38)	N438I	probably benign	Het

Other mutations in Lrrk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Lrrk1	APN	7	66,287,701 (GRCm38)	missense	probably damaging	1.00
IGL01511:Lrrk1	APN	7	66,265,450 (GRCm38)	missense	possibly damaging	0.48
IGL02337:Lrrk1	APN	7	66,279,416 (GRCm38)	missense	possibly damaging	0.92
IGL02636:Lrrk1	APN	7	66,308,659 (GRCm38)	critical splice donor site	probably null
IGL02679:Lrrk1	APN	7	66,274,872 (GRCm38)	missense	probably damaging	1.00
IGL02711:Lrrk1	APN	7	66,330,767 (GRCm38)	missense	probably damaging	1.00
IGL02742:Lrrk1	APN	7	66,308,691 (GRCm38)	missense	probably benign	0.12
IGL02878:Lrrk1	APN	7	66,262,563 (GRCm38)	missense	probably benign
IGL03135:Lrrk1	APN	7	66,262,890 (GRCm38)	missense	probably benign	0.00
IGL03191:Lrrk1	APN	7	66,259,959 (GRCm38)	missense	probably damaging	0.99
IGL03198:Lrrk1	APN	7	66,306,894 (GRCm38)	missense	probably damaging	1.00
combustion	UTSW	7	66,262,665 (GRCm38)	missense	possibly damaging	0.94
fluorine	UTSW	7	66,302,710 (GRCm38)	missense	possibly damaging	0.89
halide	UTSW	7	66,265,474 (GRCm38)	missense	possibly damaging	0.82
Heiland	UTSW	7	66,262,733 (GRCm38)	missense	probably damaging	0.96
liebster	UTSW	7	66,294,981 (GRCm38)	missense	probably damaging	1.00
magi	UTSW	7	66,281,648 (GRCm38)	missense	probably damaging	1.00
oxidation	UTSW	7	66,279,372 (GRCm38)	missense	probably benign	0.00
phlogiston	UTSW	7	66,278,520 (GRCm38)	splice site	probably benign
Savior	UTSW	7	66,262,487 (GRCm38)	missense	probably damaging	1.00
wenig	UTSW	7	66,273,001 (GRCm38)	missense	probably damaging	1.00
R0105:Lrrk1	UTSW	7	66,292,341 (GRCm38)	missense	probably damaging	1.00
R0105:Lrrk1	UTSW	7	66,292,341 (GRCm38)	missense	probably damaging	1.00
R0276:Lrrk1	UTSW	7	66,296,263 (GRCm38)	splice site	probably benign
R0505:Lrrk1	UTSW	7	66,290,908 (GRCm38)	splice site	probably null
R0609:Lrrk1	UTSW	7	66,266,615 (GRCm38)	splice site	probably null
R0650:Lrrk1	UTSW	7	66,292,336 (GRCm38)	missense	probably damaging	1.00
R0676:Lrrk1	UTSW	7	66,294,981 (GRCm38)	missense	probably damaging	1.00
R1157:Lrrk1	UTSW	7	66,262,283 (GRCm38)	missense	probably benign	0.00
R1435:Lrrk1	UTSW	7	66,273,028 (GRCm38)	missense	probably damaging	1.00
R1468:Lrrk1	UTSW	7	66,259,974 (GRCm38)	missense	probably damaging	1.00
R1468:Lrrk1	UTSW	7	66,259,974 (GRCm38)	missense	probably damaging	1.00
R1498:Lrrk1	UTSW	7	66,302,671 (GRCm38)	nonsense	probably null
R1620:Lrrk1	UTSW	7	66,381,538 (GRCm38)	missense	probably benign	0.00
R1884:Lrrk1	UTSW	7	66,262,437 (GRCm38)	missense	probably benign
R1891:Lrrk1	UTSW	7	66,279,300 (GRCm38)	missense	probably damaging	1.00
R1989:Lrrk1	UTSW	7	66,281,684 (GRCm38)	missense	probably damaging	1.00
R2107:Lrrk1	UTSW	7	66,279,282 (GRCm38)	missense	probably damaging	1.00
R2140:Lrrk1	UTSW	7	66,330,750 (GRCm38)	missense	probably damaging	1.00
R2144:Lrrk1	UTSW	7	66,296,163 (GRCm38)	missense	probably damaging	0.98
R2147:Lrrk1	UTSW	7	66,285,411 (GRCm38)	splice site	probably null
R3176:Lrrk1	UTSW	7	66,305,521 (GRCm38)	missense	possibly damaging	0.69
R3276:Lrrk1	UTSW	7	66,305,521 (GRCm38)	missense	possibly damaging	0.69
R3886:Lrrk1	UTSW	7	66,292,364 (GRCm38)	missense	probably damaging	1.00
R3893:Lrrk1	UTSW	7	66,278,520 (GRCm38)	splice site	probably benign
R3906:Lrrk1	UTSW	7	66,294,903 (GRCm38)	missense	possibly damaging	0.84
R4259:Lrrk1	UTSW	7	66,330,764 (GRCm38)	missense	probably damaging	1.00
R4649:Lrrk1	UTSW	7	66,273,053 (GRCm38)	missense	probably benign	0.12
R4653:Lrrk1	UTSW	7	66,273,053 (GRCm38)	missense	probably benign	0.12
R4672:Lrrk1	UTSW	7	66,279,372 (GRCm38)	missense	probably benign	0.00
R4693:Lrrk1	UTSW	7	66,262,487 (GRCm38)	missense	probably damaging	1.00
R4729:Lrrk1	UTSW	7	66,262,293 (GRCm38)	missense	probably benign
R4737:Lrrk1	UTSW	7	66,306,873 (GRCm38)	missense	probably benign	0.09
R4795:Lrrk1	UTSW	7	66,262,665 (GRCm38)	missense	possibly damaging	0.94
R4911:Lrrk1	UTSW	7	66,295,454 (GRCm38)	missense	probably damaging	0.97
R5254:Lrrk1	UTSW	7	66,307,107 (GRCm38)	missense	probably benign	0.00
R5407:Lrrk1	UTSW	7	66,270,797 (GRCm38)	missense	probably benign	0.20
R5482:Lrrk1	UTSW	7	66,330,670 (GRCm38)	missense	probably benign
R5600:Lrrk1	UTSW	7	66,307,215 (GRCm38)	missense	probably benign	0.31
R5615:Lrrk1	UTSW	7	66,287,615 (GRCm38)	missense	probably damaging	1.00
R6041:Lrrk1	UTSW	7	66,262,133 (GRCm38)	missense	probably benign
R6211:Lrrk1	UTSW	7	66,302,710 (GRCm38)	missense	possibly damaging	0.89
R6271:Lrrk1	UTSW	7	66,307,103 (GRCm38)	critical splice donor site	probably null
R6276:Lrrk1	UTSW	7	66,306,839 (GRCm38)	splice site	probably null
R6447:Lrrk1	UTSW	7	66,302,728 (GRCm38)	missense	probably benign	0.19
R6478:Lrrk1	UTSW	7	66,262,733 (GRCm38)	missense	probably damaging	0.96
R6615:Lrrk1	UTSW	7	66,281,648 (GRCm38)	missense	probably damaging	1.00
R6745:Lrrk1	UTSW	7	66,273,001 (GRCm38)	missense	probably damaging	1.00
R6836:Lrrk1	UTSW	7	66,342,779 (GRCm38)	missense	probably benign	0.05
R6995:Lrrk1	UTSW	7	66,292,342 (GRCm38)	missense	probably damaging	1.00
R7107:Lrrk1	UTSW	7	66,287,443 (GRCm38)	missense	possibly damaging	0.94
R7137:Lrrk1	UTSW	7	66,285,279 (GRCm38)	missense	probably benign	0.06
R7203:Lrrk1	UTSW	7	66,270,825 (GRCm38)	missense	probably damaging	1.00
R7224:Lrrk1	UTSW	7	66,332,386 (GRCm38)	missense	probably damaging	0.99
R7239:Lrrk1	UTSW	7	66,262,155 (GRCm38)	missense	probably benign
R7440:Lrrk1	UTSW	7	66,290,854 (GRCm38)	missense	probably damaging	1.00
R7515:Lrrk1	UTSW	7	66,262,562 (GRCm38)	missense	probably benign
R7593:Lrrk1	UTSW	7	66,308,691 (GRCm38)	missense	probably benign	0.12
R7728:Lrrk1	UTSW	7	66,262,715 (GRCm38)	missense	probably benign	0.00
R7984:Lrrk1	UTSW	7	66,300,729 (GRCm38)	splice site	probably null
R7993:Lrrk1	UTSW	7	66,262,454 (GRCm38)	missense	probably benign	0.00
R8009:Lrrk1	UTSW	7	66,265,474 (GRCm38)	missense	possibly damaging	0.82
R8037:Lrrk1	UTSW	7	66,285,341 (GRCm38)	missense	probably benign
R8101:Lrrk1	UTSW	7	66,342,782 (GRCm38)	missense	probably benign
R8116:Lrrk1	UTSW	7	66,262,623 (GRCm38)	missense	possibly damaging	0.95
R8126:Lrrk1	UTSW	7	66,292,315 (GRCm38)	missense	probably damaging	1.00
R8278:Lrrk1	UTSW	7	66,278,684 (GRCm38)	missense	probably benign	0.37
R8559:Lrrk1	UTSW	7	66,282,327 (GRCm38)	missense	possibly damaging	0.48
R8669:Lrrk1	UTSW	7	66,262,596 (GRCm38)	missense	probably benign	0.20
R8690:Lrrk1	UTSW	7	66,302,729 (GRCm38)	missense	probably benign	0.02
R8955:Lrrk1	UTSW	7	66,269,825 (GRCm38)	missense	probably benign	0.09
R9135:Lrrk1	UTSW	7	66,278,609 (GRCm38)	missense	probably damaging	1.00
R9380:Lrrk1	UTSW	7	66,278,583 (GRCm38)	missense	probably damaging	1.00
R9625:Lrrk1	UTSW	7	66,259,918 (GRCm38)	makesense	probably null
R9721:Lrrk1	UTSW	7	66,274,875 (GRCm38)	missense	probably damaging	1.00
RF018:Lrrk1	UTSW	7	66,381,502 (GRCm38)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AGGCCACTGGAGAATTAGCG -3'
(R):5'- TTACTTGGCAGAAGCAGAGC -3'

Sequencing Primer
(F):5'- CCACTGGAGAATTAGCGGTAAG -3'
(R):5'- GCAGAGCTTTCATTCAGACCTAG -3'

Posted On

2016-06-06