Incidental Mutation 'R4465:Lrrk2'
ID 330318
Institutional Source Beutler Lab
Gene Symbol Lrrk2
Ensembl Gene ENSMUSG00000036273
Gene Name leucine-rich repeat kinase 2
Synonyms 9330188B09Rik, 4921513O20Rik, LOC381026, cI-46, D630001M17Rik
MMRRC Submission 041580-MU
Accession Numbers

Genbank: NM_025730; MGI: 1913975

Essential gene? Possibly essential (E-score: 0.520) question?
Stock # R4465 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 91673175-91816120 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91747820 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1316 (K1316E)
Ref Sequence ENSEMBL: ENSMUSP00000052584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060642]
AlphaFold Q5S006
Predicted Effect probably damaging
Transcript: ENSMUST00000060642
AA Change: K1316E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052584
Gene: ENSMUSG00000036273
AA Change: K1316E

DomainStartEndE-ValueType
low complexity region 138 156 N/A INTRINSIC
low complexity region 332 347 N/A INTRINSIC
ANK 708 737 3.95e1 SMART
ANK 770 800 4.58e2 SMART
low complexity region 890 901 N/A INTRINSIC
low complexity region 953 966 N/A INTRINSIC
low complexity region 971 979 N/A INTRINSIC
LRR 1010 1033 9.96e-1 SMART
LRR 1034 1057 8.01e0 SMART
LRR 1082 1105 2.45e0 SMART
LRR 1128 1151 9.3e-1 SMART
LRR 1195 1219 3.24e0 SMART
LRR 1244 1266 3.87e1 SMART
LRR 1267 1291 4.98e1 SMART
Pfam:Roc 1336 1456 4.9e-32 PFAM
Pfam:Ras 1336 1489 3.3e-17 PFAM
Pfam:COR 1524 1740 4e-28 PFAM
Pfam:Pkinase 1881 2132 4.7e-40 PFAM
Pfam:Pkinase_Tyr 1882 2132 6.8e-39 PFAM
WD40 2231 2276 3.09e-1 SMART
WD40 2401 2438 1.37e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140734
Coding Region Coverage
  • 1x: 99.1%
  • 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 is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole. Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, knock-out(6) Targeted, other(1)

Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 63,898,839 (GRCm38) probably benign Het
Acsbg2 A G 17: 56,861,580 (GRCm38) Y180H probably damaging Het
Adgrb3 G T 1: 25,094,366 (GRCm38) T1213K probably damaging Het
Atrn A G 2: 130,960,468 (GRCm38) T510A probably benign Het
Clasp1 C A 1: 118,561,078 (GRCm38) T857N probably damaging Het
Cldn8 A C 16: 88,562,731 (GRCm38) M102R probably damaging Het
Col12a1 C A 9: 79,672,910 (GRCm38) V1562F possibly damaging Het
Cyp4f40 T A 17: 32,671,212 (GRCm38) D285E probably benign Het
Dis3 G A 14: 99,084,114 (GRCm38) S599L possibly damaging Het
Dnah11 T C 12: 117,987,451 (GRCm38) T3041A probably benign Het
Erbin T C 13: 103,844,885 (GRCm38) N511D probably benign Het
F11 T A 8: 45,241,474 (GRCm38) I617F probably damaging Het
Gm11541 A T 11: 94,704,222 (GRCm38) C7S unknown Het
Klk12 A T 7: 43,773,383 (GRCm38) R245W probably damaging Het
Lao1 C A 4: 118,965,307 (GRCm38) S141R probably benign Het
Map3k6 A G 4: 133,246,333 (GRCm38) Y445C possibly damaging Het
Mup6 T C 4: 60,004,000 (GRCm38) I31T probably damaging Het
Ndnf T A 6: 65,704,196 (GRCm38) D486E probably benign Het
Olfr1084 A T 2: 86,639,134 (GRCm38) N191K probably benign Het
Olfr1097 A T 2: 86,891,150 (GRCm38) N8K probably benign Het
Olfr441 T C 6: 43,115,918 (GRCm38) Y59H probably damaging Het
Rab19 T C 6: 39,388,126 (GRCm38) S107P probably damaging Het
Slc22a29 A T 19: 8,162,724 (GRCm38) L439* probably null Het
Slc5a1 A G 5: 33,146,516 (GRCm38) E225G possibly damaging Het
Slx4 A G 16: 3,989,055 (GRCm38) V508A possibly damaging Het
Snx25 A G 8: 46,068,229 (GRCm38) S373P possibly damaging Het
Stag2 A G X: 42,233,872 (GRCm38) S400G probably benign Homo
Tas2r107 A G 6: 131,660,009 (GRCm38) Y26H probably benign Het
Tmem181a T A 17: 6,295,786 (GRCm38) L185H probably damaging Het
Zdhhc22 G A 12: 86,988,223 (GRCm38) L152F probably benign Het
Zfpm2 T G 15: 41,096,161 (GRCm38) M80R probably benign Het
Other mutations in Lrrk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Lrrk2 APN 15 91,747,799 (GRCm38) missense possibly damaging 0.90
IGL00542:Lrrk2 APN 15 91,699,943 (GRCm38) missense probably benign
IGL00770:Lrrk2 APN 15 91,801,833 (GRCm38) splice site probably benign
IGL00774:Lrrk2 APN 15 91,801,833 (GRCm38) splice site probably benign
IGL00791:Lrrk2 APN 15 91,779,841 (GRCm38) missense probably damaging 1.00
IGL00827:Lrrk2 APN 15 91,755,790 (GRCm38) missense probably damaging 1.00
IGL00843:Lrrk2 APN 15 91,757,058 (GRCm38) missense possibly damaging 0.58
IGL01109:Lrrk2 APN 15 91,738,832 (GRCm38) missense probably damaging 1.00
IGL01293:Lrrk2 APN 15 91,726,137 (GRCm38) missense probably benign 0.21
IGL01296:Lrrk2 APN 15 91,683,142 (GRCm38) missense probably benign
IGL01301:Lrrk2 APN 15 91,767,339 (GRCm38) missense probably damaging 1.00
IGL01360:Lrrk2 APN 15 91,700,569 (GRCm38) splice site probably null
IGL01465:Lrrk2 APN 15 91,728,925 (GRCm38) missense probably benign 0.21
IGL01529:Lrrk2 APN 15 91,812,313 (GRCm38) missense possibly damaging 0.92
IGL01557:Lrrk2 APN 15 91,699,989 (GRCm38) missense probably damaging 1.00
IGL01560:Lrrk2 APN 15 91,774,988 (GRCm38) missense probably benign 0.33
IGL01991:Lrrk2 APN 15 91,779,946 (GRCm38) missense probably damaging 0.99
IGL02003:Lrrk2 APN 15 91,731,491 (GRCm38) missense probably damaging 0.99
IGL02325:Lrrk2 APN 15 91,726,308 (GRCm38) critical splice donor site probably null
IGL02711:Lrrk2 APN 15 91,685,822 (GRCm38) missense possibly damaging 0.71
IGL02869:Lrrk2 APN 15 91,750,277 (GRCm38) missense probably damaging 1.00
IGL03104:Lrrk2 APN 15 91,747,755 (GRCm38) missense possibly damaging 0.68
IGL03179:Lrrk2 APN 15 91,700,578 (GRCm38) missense probably damaging 1.00
IGL03395:Lrrk2 APN 15 91,797,414 (GRCm38) splice site probably null
horned UTSW 15 91,772,858 (GRCm38) missense probably damaging 1.00
R1312_Lrrk2_980 UTSW 15 91,699,895 (GRCm38) missense probably damaging 1.00
R4710_lrrk2_232 UTSW 15 91,699,927 (GRCm38) missense possibly damaging 0.88
R5245_Lrrk2_127 UTSW 15 91,796,089 (GRCm38) missense probably damaging 1.00
spree UTSW 15 91,702,247 (GRCm38) missense probably benign 0.00
Spur UTSW 15 91,774,995 (GRCm38) nonsense probably null
3-1:Lrrk2 UTSW 15 91,801,934 (GRCm38) missense probably benign 0.01
ANU18:Lrrk2 UTSW 15 91,767,339 (GRCm38) missense probably damaging 1.00
H8562:Lrrk2 UTSW 15 91,673,358 (GRCm38) missense probably benign
H8786:Lrrk2 UTSW 15 91,673,358 (GRCm38) missense probably benign
IGL02835:Lrrk2 UTSW 15 91,814,660 (GRCm38) critical splice acceptor site probably null
R0014:Lrrk2 UTSW 15 91,802,045 (GRCm38) splice site probably benign
R0014:Lrrk2 UTSW 15 91,802,045 (GRCm38) splice site probably benign
R0078:Lrrk2 UTSW 15 91,734,009 (GRCm38) missense probably benign 0.01
R0100:Lrrk2 UTSW 15 91,745,796 (GRCm38) missense probably damaging 1.00
R0282:Lrrk2 UTSW 15 91,778,414 (GRCm38) splice site probably benign
R0448:Lrrk2 UTSW 15 91,709,305 (GRCm38) missense probably damaging 0.99
R0449:Lrrk2 UTSW 15 91,750,275 (GRCm38) missense probably damaging 1.00
R0610:Lrrk2 UTSW 15 91,815,416 (GRCm38) missense probably benign
R0617:Lrrk2 UTSW 15 91,752,278 (GRCm38) missense probably benign 0.00
R0632:Lrrk2 UTSW 15 91,796,028 (GRCm38) missense probably damaging 0.98
R0639:Lrrk2 UTSW 15 91,772,996 (GRCm38) missense probably benign 0.03
R0661:Lrrk2 UTSW 15 91,787,016 (GRCm38) missense probably damaging 1.00
R0666:Lrrk2 UTSW 15 91,757,070 (GRCm38) critical splice donor site probably null
R0764:Lrrk2 UTSW 15 91,775,046 (GRCm38) splice site probably null
R0766:Lrrk2 UTSW 15 91,699,895 (GRCm38) missense probably damaging 1.00
R0845:Lrrk2 UTSW 15 91,755,962 (GRCm38) missense probably benign 0.22
R0940:Lrrk2 UTSW 15 91,729,081 (GRCm38) missense possibly damaging 0.83
R0970:Lrrk2 UTSW 15 91,729,169 (GRCm38) missense probably benign 0.22
R1080:Lrrk2 UTSW 15 91,673,689 (GRCm38) missense probably benign 0.01
R1114:Lrrk2 UTSW 15 91,700,468 (GRCm38) nonsense probably null
R1223:Lrrk2 UTSW 15 91,673,635 (GRCm38) missense probably benign 0.00
R1289:Lrrk2 UTSW 15 91,812,360 (GRCm38) missense probably benign 0.00
R1296:Lrrk2 UTSW 15 91,728,920 (GRCm38) missense probably damaging 1.00
R1312:Lrrk2 UTSW 15 91,699,895 (GRCm38) missense probably damaging 1.00
R1637:Lrrk2 UTSW 15 91,734,058 (GRCm38) missense probably benign
R1773:Lrrk2 UTSW 15 91,779,981 (GRCm38) missense possibly damaging 0.96
R1809:Lrrk2 UTSW 15 91,699,892 (GRCm38) missense possibly damaging 0.86
R1839:Lrrk2 UTSW 15 91,683,134 (GRCm38) missense probably benign 0.00
R1946:Lrrk2 UTSW 15 91,736,661 (GRCm38) splice site probably null
R2160:Lrrk2 UTSW 15 91,796,060 (GRCm38) missense probably damaging 1.00
R2232:Lrrk2 UTSW 15 91,764,716 (GRCm38) missense probably benign 0.05
R2419:Lrrk2 UTSW 15 91,797,526 (GRCm38) splice site probably benign
R2516:Lrrk2 UTSW 15 91,755,927 (GRCm38) missense probably benign
R3110:Lrrk2 UTSW 15 91,814,695 (GRCm38) missense probably benign 0.02
R3112:Lrrk2 UTSW 15 91,814,695 (GRCm38) missense probably benign 0.02
R3801:Lrrk2 UTSW 15 91,737,111 (GRCm38) missense probably benign
R3842:Lrrk2 UTSW 15 91,755,916 (GRCm38) missense probably benign 0.01
R3903:Lrrk2 UTSW 15 91,747,701 (GRCm38) missense probably damaging 1.00
R3903:Lrrk2 UTSW 15 91,747,700 (GRCm38) missense probably damaging 1.00
R3930:Lrrk2 UTSW 15 91,767,461 (GRCm38) critical splice donor site probably null
R3937:Lrrk2 UTSW 15 91,778,504 (GRCm38) missense probably damaging 0.98
R3938:Lrrk2 UTSW 15 91,778,504 (GRCm38) missense probably damaging 0.98
R3938:Lrrk2 UTSW 15 91,712,780 (GRCm38) missense possibly damaging 0.69
R3982:Lrrk2 UTSW 15 91,709,284 (GRCm38) missense probably benign 0.22
R4125:Lrrk2 UTSW 15 91,815,483 (GRCm38) missense probably benign 0.01
R4130:Lrrk2 UTSW 15 91,755,794 (GRCm38) missense probably benign 0.19
R4296:Lrrk2 UTSW 15 91,699,895 (GRCm38) missense probably damaging 1.00
R4478:Lrrk2 UTSW 15 91,723,188 (GRCm38) missense probably damaging 1.00
R4517:Lrrk2 UTSW 15 91,705,120 (GRCm38) missense probably benign
R4539:Lrrk2 UTSW 15 91,729,142 (GRCm38) missense possibly damaging 0.86
R4654:Lrrk2 UTSW 15 91,765,681 (GRCm38) missense probably damaging 0.96
R4710:Lrrk2 UTSW 15 91,699,927 (GRCm38) missense possibly damaging 0.88
R4722:Lrrk2 UTSW 15 91,688,901 (GRCm38) missense probably damaging 1.00
R4723:Lrrk2 UTSW 15 91,764,759 (GRCm38) missense probably damaging 1.00
R4732:Lrrk2 UTSW 15 91,765,747 (GRCm38) missense probably damaging 1.00
R4732:Lrrk2 UTSW 15 91,688,849 (GRCm38) missense probably damaging 1.00
R4733:Lrrk2 UTSW 15 91,765,747 (GRCm38) missense probably damaging 1.00
R4733:Lrrk2 UTSW 15 91,688,849 (GRCm38) missense probably damaging 1.00
R4787:Lrrk2 UTSW 15 91,712,828 (GRCm38) missense probably benign
R4945:Lrrk2 UTSW 15 91,804,920 (GRCm38) missense probably benign 0.02
R4948:Lrrk2 UTSW 15 91,803,389 (GRCm38) missense probably benign 0.20
R5000:Lrrk2 UTSW 15 91,749,878 (GRCm38) missense probably damaging 1.00
R5031:Lrrk2 UTSW 15 91,700,619 (GRCm38) missense possibly damaging 0.50
R5067:Lrrk2 UTSW 15 91,765,790 (GRCm38) missense probably benign 0.01
R5245:Lrrk2 UTSW 15 91,796,089 (GRCm38) missense probably damaging 1.00
R5341:Lrrk2 UTSW 15 91,772,858 (GRCm38) missense probably damaging 1.00
R5460:Lrrk2 UTSW 15 91,814,644 (GRCm38) splice site probably null
R5551:Lrrk2 UTSW 15 91,812,350 (GRCm38) missense probably benign
R5574:Lrrk2 UTSW 15 91,787,016 (GRCm38) missense probably damaging 1.00
R5577:Lrrk2 UTSW 15 91,765,745 (GRCm38) missense probably damaging 1.00
R5685:Lrrk2 UTSW 15 91,803,301 (GRCm38) nonsense probably null
R5712:Lrrk2 UTSW 15 91,702,222 (GRCm38) nonsense probably null
R5728:Lrrk2 UTSW 15 91,774,974 (GRCm38) missense probably benign 0.36
R5782:Lrrk2 UTSW 15 91,702,183 (GRCm38) missense probably damaging 1.00
R5788:Lrrk2 UTSW 15 91,764,648 (GRCm38) missense possibly damaging 0.55
R5821:Lrrk2 UTSW 15 91,709,390 (GRCm38) critical splice donor site probably null
R5852:Lrrk2 UTSW 15 91,755,949 (GRCm38) missense probably damaging 1.00
R5934:Lrrk2 UTSW 15 91,734,046 (GRCm38) missense probably benign 0.00
R5935:Lrrk2 UTSW 15 91,745,831 (GRCm38) missense probably benign 0.14
R5979:Lrrk2 UTSW 15 91,772,945 (GRCm38) missense possibly damaging 0.47
R6101:Lrrk2 UTSW 15 91,723,135 (GRCm38) missense probably benign 0.10
R6114:Lrrk2 UTSW 15 91,747,826 (GRCm38) missense probably benign 0.33
R6259:Lrrk2 UTSW 15 91,702,247 (GRCm38) missense probably benign 0.00
R6376:Lrrk2 UTSW 15 91,742,266 (GRCm38) missense possibly damaging 0.89
R6417:Lrrk2 UTSW 15 91,812,346 (GRCm38) missense probably benign 0.03
R6420:Lrrk2 UTSW 15 91,812,346 (GRCm38) missense probably benign 0.03
R6737:Lrrk2 UTSW 15 91,723,218 (GRCm38) missense possibly damaging 0.50
R7056:Lrrk2 UTSW 15 91,774,995 (GRCm38) nonsense probably null
R7072:Lrrk2 UTSW 15 91,801,920 (GRCm38) missense probably benign 0.03
R7109:Lrrk2 UTSW 15 91,764,782 (GRCm38) missense probably damaging 1.00
R7128:Lrrk2 UTSW 15 91,801,885 (GRCm38) missense probably benign
R7144:Lrrk2 UTSW 15 91,734,055 (GRCm38) missense possibly damaging 0.54
R7187:Lrrk2 UTSW 15 91,757,001 (GRCm38) missense possibly damaging 0.92
R7270:Lrrk2 UTSW 15 91,700,441 (GRCm38) missense probably benign 0.01
R7356:Lrrk2 UTSW 15 91,738,744 (GRCm38) missense probably benign 0.07
R7360:Lrrk2 UTSW 15 91,731,655 (GRCm38) critical splice donor site probably null
R7373:Lrrk2 UTSW 15 91,700,004 (GRCm38) critical splice donor site probably null
R7465:Lrrk2 UTSW 15 91,767,340 (GRCm38) missense probably damaging 1.00
R7477:Lrrk2 UTSW 15 91,812,325 (GRCm38) missense probably damaging 0.98
R7614:Lrrk2 UTSW 15 91,772,858 (GRCm38) missense probably damaging 1.00
R7622:Lrrk2 UTSW 15 91,812,323 (GRCm38) missense probably damaging 1.00
R7658:Lrrk2 UTSW 15 91,700,358 (GRCm38) missense possibly damaging 0.91
R7679:Lrrk2 UTSW 15 91,726,186 (GRCm38) missense possibly damaging 0.58
R7737:Lrrk2 UTSW 15 91,815,446 (GRCm38) missense probably damaging 0.98
R7739:Lrrk2 UTSW 15 91,700,613 (GRCm38) missense probably damaging 1.00
R7740:Lrrk2 UTSW 15 91,767,324 (GRCm38) missense probably damaging 1.00
R7908:Lrrk2 UTSW 15 91,726,152 (GRCm38) missense probably damaging 1.00
R8299:Lrrk2 UTSW 15 91,673,240 (GRCm38) start gained probably benign
R8389:Lrrk2 UTSW 15 91,699,991 (GRCm38) missense probably damaging 1.00
R8462:Lrrk2 UTSW 15 91,731,477 (GRCm38) missense probably benign
R8698:Lrrk2 UTSW 15 91,752,197 (GRCm38) missense probably benign 0.38
R8947:Lrrk2 UTSW 15 91,702,270 (GRCm38) nonsense probably null
R9084:Lrrk2 UTSW 15 91,750,266 (GRCm38) missense
R9086:Lrrk2 UTSW 15 91,755,848 (GRCm38) missense probably benign 0.01
R9096:Lrrk2 UTSW 15 91,673,256 (GRCm38) start gained probably benign
R9097:Lrrk2 UTSW 15 91,673,256 (GRCm38) start gained probably benign
R9267:Lrrk2 UTSW 15 91,700,426 (GRCm38) missense probably damaging 0.99
R9285:Lrrk2 UTSW 15 91,778,483 (GRCm38) missense probably damaging 1.00
R9341:Lrrk2 UTSW 15 91,700,415 (GRCm38) missense probably benign 0.18
R9343:Lrrk2 UTSW 15 91,700,415 (GRCm38) missense probably benign 0.18
R9371:Lrrk2 UTSW 15 91,723,204 (GRCm38) missense probably damaging 1.00
R9424:Lrrk2 UTSW 15 91,752,185 (GRCm38) nonsense probably null
R9489:Lrrk2 UTSW 15 91,737,217 (GRCm38) missense probably benign 0.37
R9502:Lrrk2 UTSW 15 91,723,162 (GRCm38) missense probably damaging 0.98
R9563:Lrrk2 UTSW 15 91,749,840 (GRCm38) missense possibly damaging 0.90
R9576:Lrrk2 UTSW 15 91,752,185 (GRCm38) nonsense probably null
R9605:Lrrk2 UTSW 15 91,737,217 (GRCm38) missense probably benign 0.37
R9635:Lrrk2 UTSW 15 91,812,324 (GRCm38) missense probably benign 0.21
R9641:Lrrk2 UTSW 15 91,787,048 (GRCm38) missense possibly damaging 0.94
R9660:Lrrk2 UTSW 15 91,734,025 (GRCm38) missense probably benign 0.00
R9673:Lrrk2 UTSW 15 91,765,681 (GRCm38) missense probably damaging 1.00
R9708:Lrrk2 UTSW 15 91,750,279 (GRCm38) nonsense probably null
R9728:Lrrk2 UTSW 15 91,734,025 (GRCm38) missense probably benign 0.00
R9757:Lrrk2 UTSW 15 91,811,026 (GRCm38) missense probably benign 0.03
RF001:Lrrk2 UTSW 15 91,736,633 (GRCm38) missense probably benign 0.11
X0028:Lrrk2 UTSW 15 91,738,851 (GRCm38) missense probably benign 0.00
Z1088:Lrrk2 UTSW 15 91,726,240 (GRCm38) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- GTTTCCCTCTCACCAATGGG -3'
(R):5'- GGGCTGCATCTAAACACACC -3'

Sequencing Primer
(F):5'- TGTCTGTTTTATTAAGATTCCTCCAG -3'
(R):5'- CCATTAAATGGGAAGCATGCC -3'
Posted On 2015-07-21