Incidental Mutation 'R6417:Lrrk2'
ID 518127
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 044559-MU
Accession Numbers

Genbank: NM_025730; MGI: 1913975

Essential gene? Possibly essential (E-score: 0.520) question?
Stock # R6417 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 91673175-91816120 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91812346 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 2446 (R2446C)
Ref Sequence ENSEMBL: ENSMUSP00000052584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060642]
AlphaFold Q5S006
Predicted Effect probably benign
Transcript: ENSMUST00000060642
AA Change: R2446C

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000052584
Gene: ENSMUSG00000036273
AA Change: R2446C

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: ENSMUST00000133743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172797
Meta Mutation Damage Score 0.1255 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.8%
Validation Efficiency 97% (30/31)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 120,397,128 (GRCm38) K1426E possibly damaging Het
Abra C T 15: 41,866,056 (GRCm38) R316H probably benign Het
Adam7 T A 14: 68,504,621 (GRCm38) T729S probably benign Het
Arhgef17 A G 7: 100,930,062 (GRCm38) S560P probably damaging Het
Asb13 G A 13: 3,643,574 (GRCm38) V111I probably damaging Het
Eif2ak2 A C 17: 78,856,619 (GRCm38) L439R probably damaging Het
Map3k10 A G 7: 27,663,284 (GRCm38) F459S probably damaging Het
Med1 T C 11: 98,157,228 (GRCm38) D914G probably damaging Het
Olfr1085 A T 2: 86,658,166 (GRCm38) C97* probably null Het
Olfr1425 T G 19: 12,073,960 (GRCm38) K224T probably benign Het
Olfr1449 A C 19: 12,935,220 (GRCm38) T161P probably damaging Het
Olfr887 T A 9: 38,085,594 (GRCm38) S253T probably benign Het
Olfr890 T G 9: 38,143,315 (GRCm38) L55R probably damaging Het
Pkd1l2 C T 8: 117,013,899 (GRCm38) C2153Y probably damaging Het
Plk5 T C 10: 80,364,072 (GRCm38) V471A probably benign Het
Scn1a A G 2: 66,273,198 (GRCm38) I1906T probably damaging Het
Slc16a12 T C 19: 34,672,697 (GRCm38) probably null Het
Slc25a23 T C 17: 57,052,780 (GRCm38) I324V probably damaging Het
Sord A T 2: 122,264,121 (GRCm38) K330M possibly damaging Het
Srp54b T A 12: 55,250,070 (GRCm38) F184L probably damaging Het
St3gal1 A G 15: 67,111,346 (GRCm38) V187A possibly damaging Het
Tcte1 A G 17: 45,535,130 (GRCm38) E220G probably damaging Het
Tfrc C T 16: 32,630,239 (GRCm38) T732I probably damaging Het
Tnrc6a A G 7: 123,171,074 (GRCm38) T696A probably benign Het
Ttn A G 2: 76,712,275 (GRCm38) Y33456H possibly damaging Het
Unc45a C G 7: 80,339,652 (GRCm38) E23Q probably benign Het
Urb2 C T 8: 124,047,199 (GRCm38) R1490W probably damaging Het
Wdr64 A T 1: 175,726,390 (GRCm38) D162V probably damaging Het
Zfp959 G A 17: 55,898,094 (GRCm38) G377D probably damaging Het
Zswim3 G A 2: 164,820,733 (GRCm38) V378M probably damaging 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
R4465:Lrrk2 UTSW 15 91,747,820 (GRCm38) missense probably damaging 0.96
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
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'- TTCAGTGCCATTAGAACGTTGAG -3'
(R):5'- TGCATCAGAATTCCCCTTAAAGAG -3'

Sequencing Primer
(F):5'- GTGCCATTAGAACGTTGAGTAAATAC -3'
(R):5'- GCCAGGTCTACAAAGTTGAGTTCC -3'
Posted On 2018-05-24