Mutagenetix > Incidental Mutation

Incidental Mutation 'R6271:Lrrk1'

507332

Institutional Source

Beutler Lab

Gene Symbol

Lrrk1

Ensembl Gene

ENSMUSG00000015133

Gene Name

leucine-rich repeat kinase 1

Synonyms

D130026O16Rik, C230002E15Rik

MMRRC Submission

044379-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6271 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65908493-66038089 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 65956851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000015277 (fasta)

Gene Model

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

AlphaFold

Q3UHC2

Predicted Effect

probably null
Transcript: ENSMUST00000015277

SMART Domains

Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	T	4: 132,792,035 (GRCm39)	C1092F	possibly damaging	Het
Aplf	T	C	6: 87,623,230 (GRCm39)	E304G	possibly damaging	Het
Atp12a	A	G	14: 56,615,879 (GRCm39)	D547G	probably benign	Het
B3gat2	T	C	1: 23,854,342 (GRCm39)	L212P	probably damaging	Het
Babam2	G	T	5: 32,158,706 (GRCm39)	A219S	probably damaging	Het
Ccdc18	A	C	5: 108,322,753 (GRCm39)	S618R	possibly damaging	Het
Ces2c	G	A	8: 105,578,748 (GRCm39)	G342D	probably damaging	Het
Cfap57	A	C	4: 118,452,956 (GRCm39)	D582E	probably benign	Het
Cisd2	T	C	3: 135,114,627 (GRCm39)	N115D	possibly damaging	Het
Cyp17a1	A	G	19: 46,661,159 (GRCm39)	F42L	probably benign	Het
Fam234a	T	C	17: 26,437,211 (GRCm39)	D156G	probably benign	Het
Fer1l6	T	A	15: 58,513,767 (GRCm39)	I1554K	probably benign	Het
Fv1	A	G	4: 147,954,474 (GRCm39)	T347A	possibly damaging	Het
Gm5134	T	A	10: 75,831,643 (GRCm39)	C361S	probably benign	Het
Grin3a	T	C	4: 49,792,516 (GRCm39)	I406V	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Ifna13	A	C	4: 88,562,082 (GRCm39)	L181V	possibly damaging	Het
Irx4	A	G	13: 73,414,713 (GRCm39)		probably null	Het
Kcna3	T	A	3: 106,944,922 (GRCm39)	M395K	probably damaging	Het
Kcnma1	A	T	14: 23,559,957 (GRCm39)	V347D	probably damaging	Het
Kng2	A	T	16: 22,822,698 (GRCm39)	V218E	probably benign	Het
Krt36	G	A	11: 99,995,298 (GRCm39)	Q167*	probably null	Het
Lama2	T	C	10: 26,899,325 (GRCm39)	D2457G	possibly damaging	Het
Ldah	G	A	12: 8,318,599 (GRCm39)		probably null	Het
Lhfpl3	G	T	5: 22,951,242 (GRCm39)	A18S	probably benign	Het
Ltv1	T	C	10: 13,055,445 (GRCm39)	Y352C	probably damaging	Het
Lyst	G	T	13: 13,833,339 (GRCm39)	M1720I	probably benign	Het
Mkx	A	T	18: 6,937,059 (GRCm39)		probably null	Het
Myo18a	A	G	11: 77,711,635 (GRCm39)	H626R	probably damaging	Het
Nop9	A	C	14: 55,991,198 (GRCm39)	Q618H	probably damaging	Het
Or12k5	T	C	2: 36,895,554 (GRCm39)	Q24R	probably damaging	Het
Or4c12b	T	C	2: 89,646,906 (GRCm39)	S73P	probably damaging	Het
Or7g32	A	G	9: 19,389,337 (GRCm39)	S67P	probably damaging	Het
Or8c9	T	C	9: 38,241,578 (GRCm39)	S232P	probably benign	Het
Otog	C	A	7: 45,901,464 (GRCm39)	Q388K	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Oxct2b	T	G	4: 123,011,508 (GRCm39)	V476G	probably damaging	Het
Parp10	T	C	15: 76,126,202 (GRCm39)	T329A	probably benign	Het
Pcdhga5	T	C	18: 37,829,735 (GRCm39)	S728P	probably benign	Het
Piezo1	G	T	8: 123,221,671 (GRCm39)	H574Q	probably damaging	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Preb	C	A	5: 31,115,395 (GRCm39)	V255F	probably damaging	Het
Prmt9	A	G	8: 78,304,092 (GRCm39)	N725S	probably damaging	Het
Ric1	A	T	19: 29,544,765 (GRCm39)		probably null	Het
Semp2l1	T	A	1: 32,584,572 (GRCm39)	D446V	probably damaging	Het
Serinc3	G	C	2: 163,472,896 (GRCm39)	L245V	probably benign	Het
Sgce	T	C	6: 4,730,015 (GRCm39)	K70E	possibly damaging	Het
Simc1	T	G	13: 54,687,537 (GRCm39)	V102G	probably damaging	Het
Slc66a3	T	C	12: 17,047,704 (GRCm39)	D76G	probably damaging	Het
Smyd2	A	G	1: 189,616,049 (GRCm39)	Y362H	probably damaging	Het
Sptbn1	G	T	11: 30,050,660 (GRCm39)	H2310N	probably benign	Het
Syne1	T	C	10: 5,184,652 (GRCm39)	Y4077C	probably damaging	Het
Syne2	C	A	12: 75,937,155 (GRCm39)	A251E	probably damaging	Het
Taok1	A	T	11: 77,464,609 (GRCm39)	L159Q	probably damaging	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Timeless	T	C	10: 128,086,593 (GRCm39)	L1043P	probably damaging	Het
Tmprss3	T	C	17: 31,405,536 (GRCm39)	E352G	probably damaging	Het
Trav6-4	A	T	14: 53,692,039 (GRCm39)	T46S	probably benign	Het
Ubiad1	A	T	4: 148,521,083 (GRCm39)	Y180*	probably null	Het
Usp47	A	G	7: 111,686,263 (GRCm39)	E627G	probably damaging	Het
Vmn2r124	A	G	17: 18,283,145 (GRCm39)	T280A	probably benign	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
R5407:Lrrk1	UTSW	7	65,920,545 (GRCm39)	missense	probably benign	0.20
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
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'- TAAATTGGACAGGGAGCTCTG -3'
(R):5'- TGTGTGCAGAGAGAACGCAC -3'

Sequencing Primer
(F):5'- GTCAGCCTGTTGTCAGCTAGATC -3'
(R):5'- CACACCTTGTCTAGTGAGAGATCG -3'

Posted On

2018-03-15