Incidental Mutation 'R0609:Lrrk1'
ID 54524
Institutional Source Beutler Lab
Gene Symbol Lrrk1
Ensembl Gene ENSMUSG00000015133
Gene Name leucine-rich repeat kinase 1
Synonyms D130026O16Rik, C230002E15Rik
MMRRC Submission 038798-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0609 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 65908493-66038089 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 65916363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000015277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015277] [ENSMUST00000145954]
AlphaFold Q3UHC2
Predicted Effect probably null
Transcript: ENSMUST00000015277
SMART Domains Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000137181
Predicted Effect probably benign
Transcript: ENSMUST00000145954
SMART Domains Protein: ENSMUSP00000114938
Gene: ENSMUSG00000015133

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167705
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A T 14: 35,533,418 (GRCm39) probably null Het
Abcb4 T A 5: 8,997,376 (GRCm39) C952S probably damaging Het
Adamtsl2 A G 2: 26,979,647 (GRCm39) D272G probably benign Het
Aim2 G A 1: 173,289,530 (GRCm39) D158N probably damaging Het
Aldh3b1 C T 19: 3,964,024 (GRCm39) R426H probably damaging Het
Apoc2 A G 7: 19,407,278 (GRCm39) S28P probably benign Het
Arfgef3 G A 10: 18,473,179 (GRCm39) T1628I probably benign Het
Atp10a G A 7: 58,469,488 (GRCm39) probably null Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Bmp8b T A 4: 123,015,692 (GRCm39) D226E probably benign Het
Brsk2 T C 7: 141,552,229 (GRCm39) Y618H probably damaging Het
Casp12 T A 9: 5,346,554 (GRCm39) F27Y probably damaging Het
Casp8 T A 1: 58,883,951 (GRCm39) N439K probably benign Het
Ccdc175 T A 12: 72,204,281 (GRCm39) K253N probably benign Het
Cdc42bpa A G 1: 179,867,744 (GRCm39) H193R probably damaging Het
Cdk17 T C 10: 93,052,334 (GRCm39) M105T probably benign Het
Cdon C A 9: 35,389,907 (GRCm39) P854T probably damaging Het
Cep44 A G 8: 56,997,187 (GRCm39) M117T possibly damaging Het
Cep89 A T 7: 35,134,955 (GRCm39) E674D probably damaging Het
Cit C T 5: 116,012,002 (GRCm39) A203V probably damaging Het
Clstn1 C A 4: 149,713,757 (GRCm39) probably null Het
Col7a1 T A 9: 108,787,215 (GRCm39) D565E unknown Het
Cpb1 T A 3: 20,316,638 (GRCm39) Y304F probably damaging Het
Cps1 T G 1: 67,211,961 (GRCm39) Y710D probably damaging Het
Creb3l1 T C 2: 91,817,398 (GRCm39) T372A possibly damaging Het
Dars1 A G 1: 128,333,118 (GRCm39) V102A probably benign Het
Dhx35 C T 2: 158,659,335 (GRCm39) T168I possibly damaging Het
Dnah5 T C 15: 28,327,925 (GRCm39) S2100P probably benign Het
Dst T C 1: 34,306,041 (GRCm39) probably null Het
Egflam A C 15: 7,283,004 (GRCm39) L351R possibly damaging Het
Elp2 T A 18: 24,759,213 (GRCm39) D523E probably benign Het
Exo5 C A 4: 120,778,881 (GRCm39) G328V probably damaging Het
Fut9 A G 4: 25,620,811 (GRCm39) M1T probably null Het
Galnt5 A G 2: 57,914,637 (GRCm39) N584S possibly damaging Het
Gbp3 T C 3: 142,273,533 (GRCm39) V360A probably damaging Het
Gdf6 G A 4: 9,859,977 (GRCm39) C353Y probably damaging Het
Hace1 A G 10: 45,524,965 (GRCm39) T244A probably damaging Het
Hr T C 14: 70,797,097 (GRCm39) I500T probably benign Het
Ifnl2 A T 7: 28,208,707 (GRCm39) L115Q probably damaging Het
Iigp1 T C 18: 60,522,896 (GRCm39) F5L probably benign Het
Inhbb A G 1: 119,345,146 (GRCm39) L381P probably damaging Het
Irx3 A T 8: 92,527,721 (GRCm39) S50T probably benign Het
Ivns1abp C T 1: 151,235,896 (GRCm39) T363I probably benign Het
Izumo1 A T 7: 45,272,323 (GRCm39) T35S probably benign Het
Kank4 A G 4: 98,665,342 (GRCm39) S651P probably damaging Het
Kit T C 5: 75,771,539 (GRCm39) V232A probably benign Het
Klhl11 T C 11: 100,354,540 (GRCm39) Y427C probably damaging Het
Laptm4b T A 15: 34,258,835 (GRCm39) N36K probably damaging Het
Mamdc4 G T 2: 25,454,205 (GRCm39) Q1042K probably benign Het
Mical2 A G 7: 111,920,647 (GRCm39) probably null Het
Ms4a3 C A 19: 11,608,725 (GRCm39) V176F possibly damaging Het
Myo3a T C 2: 22,338,324 (GRCm39) V427A probably benign Het
Myo3a A C 2: 22,401,110 (GRCm39) E626D possibly damaging Het
Nckap5 A T 1: 125,955,025 (GRCm39) L509* probably null Het
Ndufa5 A T 6: 24,519,248 (GRCm39) D64E possibly damaging Het
Nedd4l T C 18: 65,341,532 (GRCm39) Y753H probably damaging Het
Nynrin T C 14: 56,110,218 (GRCm39) V1775A probably damaging Het
Oplah A G 15: 76,187,192 (GRCm39) S570P probably benign Het
Or14c39 T C 7: 86,344,084 (GRCm39) V140A possibly damaging Het
Or2ag1b A T 7: 106,288,205 (GRCm39) H244Q probably damaging Het
Or4q3 T C 14: 50,583,383 (GRCm39) Y141C probably damaging Het
Or5t18 A G 2: 86,637,205 (GRCm39) L46S probably damaging Het
Or9r3 G A 10: 129,948,449 (GRCm39) S70F probably damaging Het
Osbpl11 C A 16: 33,054,814 (GRCm39) Y632* probably null Het
Osbpl5 A T 7: 143,248,558 (GRCm39) L644Q probably damaging Het
Pcdhb19 T C 18: 37,631,005 (GRCm39) W267R probably benign Het
Pkhd1l1 A C 15: 44,330,820 (GRCm39) S132R possibly damaging Het
Pramel23 A T 4: 143,425,073 (GRCm39) D123E probably benign Het
Ptpn13 T A 5: 103,704,011 (GRCm39) S1348T probably benign Het
Rc3h1 T A 1: 160,757,705 (GRCm39) W8R probably damaging Het
Rgs3 T G 4: 62,544,173 (GRCm39) V315G probably damaging Het
Rora T A 9: 69,269,151 (GRCm39) M82K probably damaging Het
Rph3al T C 11: 75,799,795 (GRCm39) I55V probably benign Het
Sag T C 1: 87,740,713 (GRCm39) V45A probably damaging Het
Scn3a T C 2: 65,366,854 (GRCm39) E56G probably damaging Het
Sec24c T G 14: 20,737,016 (GRCm39) V324G probably damaging Het
Sptbn1 A G 11: 30,088,979 (GRCm39) L748S probably damaging Het
Stard9 A T 2: 120,536,787 (GRCm39) D4186V probably damaging Het
Stk39 T C 2: 68,196,511 (GRCm39) E306G probably damaging Het
Sycp1 C A 3: 102,806,165 (GRCm39) probably null Het
Taf2 A C 15: 54,923,446 (GRCm39) L277R probably damaging Het
Tasor C T 14: 27,183,707 (GRCm39) T722I probably benign Het
Tbc1d23 T A 16: 56,993,469 (GRCm39) I566F possibly damaging Het
Tekt5 T C 16: 10,179,168 (GRCm39) T400A possibly damaging Het
Tgfbrap1 T C 1: 43,099,301 (GRCm39) H401R probably benign Het
Tie1 T A 4: 118,333,344 (GRCm39) I841L possibly damaging Het
Tln1 T G 4: 43,544,645 (GRCm39) T1095P possibly damaging Het
Tmem147 A G 7: 30,427,527 (GRCm39) Y72H probably benign Het
Tnfaip2 A G 12: 111,419,941 (GRCm39) N691S probably benign Het
Trim24 G A 6: 37,934,718 (GRCm39) C811Y probably damaging Het
Trim30b T A 7: 104,007,183 (GRCm39) probably benign Het
Trpc4 T G 3: 54,102,189 (GRCm39) L29R probably damaging Het
Trpm6 A T 19: 18,803,226 (GRCm39) I890F probably damaging Het
Ttc23l C T 15: 10,504,622 (GRCm39) E442K probably benign Het
Tut7 A T 13: 59,947,596 (GRCm39) C506* probably null Het
Uggt2 A G 14: 119,332,748 (GRCm39) V62A probably damaging Het
Ugt1a6a C A 1: 88,066,606 (GRCm39) S137R probably benign Het
Unc13a A G 8: 72,111,111 (GRCm39) Y367H probably damaging Het
Vmn2r49 A G 7: 9,710,233 (GRCm39) I833T probably benign Het
Vmn2r7 T C 3: 64,623,900 (GRCm39) D231G probably benign Het
Ythdc2 A T 18: 44,997,424 (GRCm39) M994L probably benign Het
Zfp804a G A 2: 82,087,932 (GRCm39) S587N probably damaging Het
Zswim2 A G 2: 83,754,003 (GRCm39) I219T probably benign Het
Other mutations in Lrrk1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACTACCCTGAATCCTAGCTTCCAGC -3'
(R):5'- ATCCAGACTCACTGTGTCCAGTCC -3'

Sequencing Primer
(F):5'- CAGGGACAAGTTGATCTTGACATC -3'
(R):5'- gagaaggtggggagggag -3'
Posted On 2013-07-11