Mutagenetix > Incidental Mutation

Incidental Mutation 'R3906:Lrrk1'

309183

Institutional Source

Beutler Lab

Gene Symbol

Lrrk1

Ensembl Gene

ENSMUSG00000015133

Gene Name

leucine-rich repeat kinase 1

Synonyms

MMRRC Submission

040813-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66226912-66388350 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 66294903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 653 (T653K)

Ref Sequence

ENSEMBL: ENSMUSP00000015277 (fasta)

Gene Model

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

AlphaFold

Q3UHC2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015277
AA Change: T653K

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: T653K

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (36/37)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,067,151 (GRCm38)	V1352A	possibly damaging	Het
Abcb7	G	T	X: 104,284,159 (GRCm38)	Q715K	probably benign	Het
Adamts3	C	A	5: 89,861,355 (GRCm38)	G150C	probably damaging	Het
Ank2	A	G	3: 127,016,898 (GRCm38)	L513P	probably damaging	Het
Cacng1	C	A	11: 107,716,292 (GRCm38)	V34L	probably benign	Het
Cd1d1	A	G	3: 86,998,756 (GRCm38)	W71R	probably damaging	Het
Cdhr3	A	G	12: 33,053,428 (GRCm38)	F397L	probably damaging	Het
Ces2a	A	G	8: 104,739,308 (GRCm38)	I325V	probably benign	Het
Ctsq	C	T	13: 61,038,771 (GRCm38)	V140M	probably damaging	Het
Cyp4f18	A	G	8: 72,001,082 (GRCm38)		probably benign	Het
Ddi2	T	C	4: 141,684,281 (GRCm38)	D440G	probably benign	Het
Dsg3	G	A	18: 20,538,499 (GRCm38)	G754R	probably damaging	Het
Endod1	T	A	9: 14,380,855 (GRCm38)	Y39F	probably benign	Het
F11	A	G	8: 45,248,638 (GRCm38)	S353P	probably damaging	Het
Fn1	C	T	1: 71,607,913 (GRCm38)	G1482R	probably damaging	Het
Fpr2	A	G	17: 17,893,549 (GRCm38)	K269R	probably benign	Het
Frk	T	G	10: 34,584,056 (GRCm38)	L216V	probably benign	Het
Gan	G	A	8: 117,194,134 (GRCm38)	V370M	probably damaging	Het
Grik1	A	G	16: 88,006,449 (GRCm38)	I285T	probably benign	Het
Hspa1a	C	T	17: 34,971,727 (GRCm38)	V67M	probably damaging	Het
Kbtbd8	T	A	6: 95,126,584 (GRCm38)	Y405N	probably damaging	Het
Kcnj4	G	T	15: 79,485,745 (GRCm38)	H11Q	probably benign	Het
Kif26a	T	A	12: 112,176,890 (GRCm38)	S1193T	probably benign	Het
Kmt2e	A	G	5: 23,501,626 (GRCm38)	N1396D	probably benign	Het
Lasp1	G	A	11: 97,799,827 (GRCm38)	V12M	probably damaging	Het
Meiob	A	G	17: 24,827,948 (GRCm38)	Y182C	probably benign	Het
Myh6	T	C	14: 54,956,955 (GRCm38)	D739G	probably benign	Het
Ninl	T	C	2: 150,980,119 (GRCm38)	D21G	probably damaging	Het
Olfr1504	C	T	19: 13,887,706 (GRCm38)	C168Y	probably damaging	Het
Olfr743	C	T	14: 50,533,754 (GRCm38)	T114I	probably benign	Het
Pacsin2	A	C	15: 83,379,055 (GRCm38)	V125G	probably damaging	Het
Pfas	G	A	11: 68,988,286 (GRCm38)		probably benign	Het
Pla2g4f	C	T	2: 120,300,499 (GRCm38)	R825Q	probably benign	Het
Prkd1	A	T	12: 50,388,426 (GRCm38)	V506E	possibly damaging	Het
Psmd2	A	G	16: 20,655,642 (GRCm38)	D316G	probably benign	Het
Ryr2	T	A	13: 11,738,209 (GRCm38)	D1742V	possibly damaging	Het
Szt2	G	A	4: 118,378,269 (GRCm38)		probably benign	Het
Ugt8a	T	C	3: 125,914,982 (GRCm38)	T160A	possibly damaging	Het
Xrcc6	A	G	15: 82,029,571 (GRCm38)	T378A	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
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

PCR Primer
(F):5'- TTAGACCCAGAAGACCCAGG -3'
(R):5'- AGTCCCTCTCAAAGATCCCTG -3'

Sequencing Primer
(F):5'- CCTAAGAGAACAGAGAGTAGCCC -3'
(R):5'- CGCCTCTTAAAAATGTGAGTGC -3'

Posted On

2015-04-17