Mutagenetix > Incidental Mutation

Incidental Mutation 'R5407:Lrrk1'

426328

Institutional Source

Beutler Lab

Gene Symbol

Lrrk1

Ensembl Gene

ENSMUSG00000015133

Gene Name

leucine-rich repeat kinase 1

Synonyms

D130026O16Rik, C230002E15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65908493-66038089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65920545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1486 (Q1486L)

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: Q1486L

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: Q1486L

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

probably benign
Transcript: ENSMUST00000145954
AA Change: Q401L

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114938
Gene: ENSMUSG00000015133
AA Change: Q401L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	C	4: 144,396,895 (GRCm39)	K279R	probably benign	Het
Aldoart2	A	C	12: 55,612,981 (GRCm39)	Y302S	probably damaging	Het
Arpp21	G	T	9: 111,945,821 (GRCm39)		probably benign	Het
Camk1g	C	T	1: 193,029,680 (GRCm39)		probably null	Het
Cand2	G	A	6: 115,762,161 (GRCm39)	V196I	possibly damaging	Het
Cdc25b	T	A	2: 131,035,567 (GRCm39)	L381Q	probably damaging	Het
Col17a1	C	T	19: 47,654,946 (GRCm39)	G610E	probably damaging	Het
Col19a1	C	T	1: 24,342,575 (GRCm39)	E797K	probably damaging	Het
Col3a1	A	T	1: 45,385,212 (GRCm39)	I110L	probably benign	Het
Col5a2	T	A	1: 45,445,440 (GRCm39)	D506V	possibly damaging	Het
Crp	A	T	1: 172,525,676 (GRCm39)		probably null	Het
Esco1	G	T	18: 10,574,886 (GRCm39)	H729N	probably damaging	Het
Evx2	A	G	2: 74,488,170 (GRCm39)	S217P	probably damaging	Het
Gabrb1	T	C	5: 72,279,364 (GRCm39)	V303A	possibly damaging	Het
Gcnt3	A	G	9: 69,941,471 (GRCm39)	Y366H	probably benign	Het
Gmpr2	A	G	14: 55,915,733 (GRCm39)	T304A	possibly damaging	Het
Golga3	C	T	5: 110,349,856 (GRCm39)	Q656*	probably null	Het
Gramd1b	T	A	9: 40,366,951 (GRCm39)	M6L	probably damaging	Het
Kif17	T	C	4: 138,025,532 (GRCm39)	Y945H	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Mboat7	G	T	7: 3,694,380 (GRCm39)	H72N	probably damaging	Het
Med12l	G	A	3: 59,165,622 (GRCm39)	V1447M	probably damaging	Het
Mrpl3	T	C	9: 104,954,294 (GRCm39)	F333L	probably benign	Het
Nav3	T	C	10: 109,702,796 (GRCm39)	T246A	probably benign	Het
Neil3	A	T	8: 54,054,054 (GRCm39)	V325E	probably benign	Het
Nlrp4g	A	T	9: 124,349,930 (GRCm38)		noncoding transcript	Het
Onecut1	C	T	9: 74,796,738 (GRCm39)	S419F	probably damaging	Het
Or10n1	A	T	9: 39,524,991 (GRCm39)	I43F	probably damaging	Het
Ptp4a1	A	T	1: 30,984,044 (GRCm39)	V58E	probably benign	Het
Radil	C	T	5: 142,493,970 (GRCm39)	R49H	probably damaging	Het
Ralgapa1	T	C	12: 55,723,582 (GRCm39)	E1648G	possibly damaging	Het
Rnft2	C	T	5: 118,380,567 (GRCm39)	M13I	probably damaging	Het
Satb2	A	G	1: 56,987,309 (GRCm39)	L92P	probably damaging	Het
Scn4a	T	C	11: 106,211,715 (GRCm39)	Y1434C	probably damaging	Het
Setx	T	A	2: 29,035,486 (GRCm39)	M657K	probably benign	Het
Shd	A	G	17: 56,280,936 (GRCm39)	E204G	probably damaging	Het
Shh	T	A	5: 28,671,578 (GRCm39)	R62*	probably null	Het
Slc9a4	A	G	1: 40,646,954 (GRCm39)	T483A	probably benign	Het
Tbc1d7	A	C	13: 43,308,178 (GRCm39)	S96A	probably benign	Het
Tfcp2	T	C	15: 100,425,755 (GRCm39)		probably null	Het
Tlk2	T	A	11: 105,131,201 (GRCm39)	S182R	probably damaging	Het
Tppp2	A	G	14: 52,156,955 (GRCm39)		probably null	Het
Trim65	T	C	11: 116,016,906 (GRCm39)	T519A	probably benign	Het
Trio	T	C	15: 27,844,892 (GRCm39)		probably null	Het
Usf3	G	A	16: 44,037,769 (GRCm39)	V750I	probably benign	Het
Utrn	T	A	10: 12,556,369 (GRCm39)	K1480N	probably damaging	Het
Vmn1r58	T	A	7: 5,413,872 (GRCm39)	R119S	probably benign	Het
Xirp2	A	G	2: 67,341,313 (GRCm39)	I1185V	probably benign	Het
Zc3h7b	A	G	15: 81,670,092 (GRCm39)	H654R	probably damaging	Het
Zfyve16	G	T	13: 92,636,792 (GRCm39)	A1306E	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
R1157:Lrrk1	UTSW	7	65,912,031 (GRCm39)	missense	probably benign	0.00
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
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

PCR Primer
(F):5'- CCATCAGAGTAACCGGGACAAG -3'
(R):5'- GGGCCAGCTTTCTAAGGTTG -3'

Sequencing Primer
(F):5'- GAACAAGATGCTCAGCTGTCCTTAG -3'
(R):5'- TCTAAGGTTGCTGGGCCCAG -3'

Posted On

2016-09-01