Mutagenetix > Incidental Mutation

Incidental Mutation 'R3176:Lrrk1'

475996

Institutional Source

Beutler Lab

Gene Symbol

Lrrk1

Ensembl Gene

ENSMUSG00000015133

Gene Name

leucine-rich repeat kinase 1

Synonyms

MMRRC Submission

040614-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3176 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66226912-66388350 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66305521 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 431 (K431E)

Ref Sequence

ENSEMBL: ENSMUSP00000015277 (fasta)

Gene Model

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

AlphaFold

Q3UHC2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015277
AA Change: K431E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: K431E

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: ENSMUST00000207140

Meta Mutation Damage Score

0.2152

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (28/28)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 86,506,866	R1269H	probably damaging	Het
Ace	A	G	11: 105,976,702	E164G	probably null	Het
Als2	A	T	1: 59,170,008	V1464E	possibly damaging	Het
Atox1	A	G	11: 55,450,553	L52P	possibly damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Cdkn3	T	C	14: 46,771,477		probably benign	Het
Ces2a	A	G	8: 104,739,378		probably benign	Het
Col16a1	A	G	4: 130,057,999	K72E	probably damaging	Het
Col6a5	G	A	9: 105,911,107	R1565*	probably null	Het
Col6a6	T	C	9: 105,786,230	H36R	probably benign	Het
Cyp4b1	T	C	4: 115,625,850	N415D	possibly damaging	Het
Dcp1a	A	G	14: 30,505,542		probably benign	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dhcr24	T	C	4: 106,561,239	F25L	probably benign	Het
Dhrs3	A	G	4: 144,923,940	T219A	probably benign	Het
Dhx58	A	G	11: 100,696,979	F584S	probably damaging	Het
Dmbt1	A	G	7: 131,088,071	T715A	probably benign	Het
Dtx3l	A	G	16: 35,932,173	S688P	probably benign	Het
Eogt	T	A	6: 97,131,394	I229F	probably benign	Het
Ern2	T	C	7: 122,180,964	T164A	possibly damaging	Het
Fam133b	A	T	5: 3,558,522	N84I	probably damaging	Het
Fbxl21	T	A	13: 56,537,122	Y346*	probably null	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Gm11492	T	C	11: 87,567,244	V148A	possibly damaging	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hao2	T	C	3: 98,880,328		probably benign	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kcnt2	A	G	1: 140,609,639	N1119S	probably benign	Het
Kif15	T	C	9: 122,987,840		probably benign	Het
Klhl32	T	C	4: 24,682,063	I207V	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lhfpl5	T	C	17: 28,579,946	I143T	possibly damaging	Het
Mag	C	T	7: 30,901,648		probably null	Het
Maml3	A	T	3: 51,856,930	N204K	possibly damaging	Het
Mrpl19	T	C	6: 81,964,066	S115G	probably damaging	Het
Mthfd1l	G	C	10: 4,148,025	G954A	probably damaging	Het
Mut	A	G	17: 40,958,872		probably null	Het
Myo19	A	G	11: 84,892,175	I172V	probably benign	Het
Naca	T	C	10: 128,040,661		probably benign	Het
Nbeal2	G	A	9: 110,636,887		probably benign	Het
Nfatc2	T	C	2: 168,506,994	N638D	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr584	C	A	7: 103,085,750	D72E	probably damaging	Het
Olfr913	T	A	9: 38,594,643	C141S	probably damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Prcd	A	G	11: 116,659,811	E103G	possibly damaging	Het
Prkx	A	T	X: 77,771,275	F260I	probably damaging	Het
Rad54l2	A	G	9: 106,753,943		probably null	Het
Rb1cc1	T	A	1: 6,249,366	M1003K	probably benign	Het
Scap	A	T	9: 110,374,025	M256L	probably benign	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Tmem120b	T	A	5: 123,114,104	I146N	probably damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Ube3a	T	A	7: 59,276,519	C348*	probably null	Het
Ubr4	T	A	4: 139,421,855	D1777E	probably benign	Het
Unc79	C	A	12: 103,113,217	D1880E	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Zswim9	T	C	7: 13,277,270	T51A	possibly damaging	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
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
R5002:Lrrk1	UTSW	7	66,332,363 (GRCm38)	missense	probably damaging	1.00
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

Posted On

2017-05-11