Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02742:Lrrk1'

305950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrk1

Ensembl Gene

ENSMUSG00000015133

Gene Name

leucine-rich repeat kinase 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02742

Quality Score

Status

Chromosome

Chromosomal Location

66226912-66388350 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66308691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 320 (V320A)

Ref Sequence

ENSEMBL: ENSMUSP00000015277 (fasta)

Gene Model

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

AlphaFold

Q3UHC2

Predicted Effect

probably benign
Transcript: ENSMUST00000015277
AA Change: V320A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: V320A

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

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,095,625 (GRCm38)	T506A	probably damaging	Het
AI314180	A	G	4: 58,840,757 (GRCm38)	V667A	probably damaging	Het
Ankib1	A	C	5: 3,693,479 (GRCm38)	D845E	probably benign	Het
Atxn2	T	C	5: 121,781,336 (GRCm38)	V369A	possibly damaging	Het
Ccdc50	T	A	16: 27,406,784 (GRCm38)		probably benign	Het
Clec2g	A	G	6: 128,980,261 (GRCm38)	I61V	possibly damaging	Het
Col16a1	G	A	4: 130,061,379 (GRCm38)		probably benign	Het
Dapk2	A	G	9: 66,231,814 (GRCm38)	Y139C	probably damaging	Het
Fnip1	T	C	11: 54,493,351 (GRCm38)	L334P	probably damaging	Het
Igf1r	A	G	7: 68,189,991 (GRCm38)	E682G	possibly damaging	Het
Ints8	T	C	4: 11,241,627 (GRCm38)	E272G	possibly damaging	Het
Jph2	G	A	2: 163,375,779 (GRCm38)	P326S	probably damaging	Het
Krtap1-4	T	C	11: 99,583,114 (GRCm38)		probably benign	Het
Lrp5	A	G	19: 3,604,022 (GRCm38)	I1135T	probably damaging	Het
Myh6	A	C	14: 54,953,924 (GRCm38)	I820S	possibly damaging	Het
Napg	A	T	18: 62,986,248 (GRCm38)	T110S	probably damaging	Het
Nova1	G	A	12: 46,720,692 (GRCm38)	Q56*	probably null	Het
Phyhip	A	G	14: 70,461,927 (GRCm38)		probably null	Het
Pkd2l2	C	A	18: 34,416,917 (GRCm38)	S205*	probably null	Het
Ppp2r1a	G	T	17: 20,959,003 (GRCm38)	C101F	probably benign	Het
Serpinb3c	G	A	1: 107,273,142 (GRCm38)	R182*	probably null	Het
St18	A	C	1: 6,802,316 (GRCm38)		probably benign	Het
St6galnac4	C	T	2: 32,597,084 (GRCm38)	R264C	possibly damaging	Het
Tmem168	T	C	6: 13,603,262 (GRCm38)	Y35C	probably benign	Het
Tmem219	A	G	7: 126,897,048 (GRCm38)	L74P	probably damaging	Het
Trpc4	T	A	3: 54,299,246 (GRCm38)	N622K	probably damaging	Het
Trpm6	A	C	19: 18,830,012 (GRCm38)		probably benign	Het
Ttl	C	A	2: 129,066,293 (GRCm38)	F49L	possibly damaging	Het
Vmn1r123	A	T	7: 21,163,043 (GRCm38)	I287F	possibly damaging	Het
Vmn2r97	T	G	17: 18,929,170 (GRCm38)	I273M	probably damaging	Het
Wdr5	C	A	2: 27,520,425 (GRCm38)		probably benign	Het
Zcchc6	C	T	13: 59,816,342 (GRCm38)	D250N	probably damaging	Het
Zfp37	C	A	4: 62,192,311 (GRCm38)	C172F	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
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
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

Posted On

2015-04-16