Incidental Mutation 'R3842:Lrrk2'
ID 277221
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 040782-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.520) question?
Stock # R3842 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 91673175-91816120 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 91755916 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1555 (Q1555K)
Ref Sequence ENSEMBL: ENSMUSP00000052584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060642]
AlphaFold Q5S006
Predicted Effect probably benign
Transcript: ENSMUST00000060642
AA Change: Q1555K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000052584
Gene: ENSMUSG00000036273
AA Change: Q1555K

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
Meta Mutation Damage Score 0.0737 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (37/37)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 C T 14: 8,251,543 (GRCm38) R318H probably damaging Het
Adamts16 T C 13: 70,738,891 (GRCm38) Y958C possibly damaging Het
Apol7e A G 15: 77,717,589 (GRCm38) E129G probably damaging Het
Bmp2k A G 5: 97,087,151 (GRCm38) probably benign Het
Camk2g T C 14: 20,764,898 (GRCm38) H26R probably damaging Het
Cpn2 A G 16: 30,260,518 (GRCm38) S122P probably damaging Het
Dhcr24 G T 4: 106,585,805 (GRCm38) G346C probably damaging Het
Egf G A 3: 129,697,793 (GRCm38) R351* probably null Het
Exosc10 T A 4: 148,563,865 (GRCm38) Y260* probably null Het
Fabp3 C T 4: 130,312,387 (GRCm38) T57I probably benign Het
Fam83h C T 15: 76,002,650 (GRCm38) R946K probably benign Het
Fbxo30 A G 10: 11,290,112 (GRCm38) S193G probably damaging Het
Grik3 T C 4: 125,693,954 (GRCm38) probably benign Het
Gtf3c6 A T 10: 40,254,321 (GRCm38) probably null Het
Hivep1 T C 13: 42,157,727 (GRCm38) S1148P probably benign Het
Hmgb2 T A 8: 57,513,354 (GRCm38) S121T probably benign Het
Hyal2 T C 9: 107,572,121 (GRCm38) S359P probably damaging Het
Itgbl1 A G 14: 123,840,565 (GRCm38) T156A possibly damaging Het
Myom1 T C 17: 71,045,624 (GRCm38) V349A probably damaging Het
Naa40 A T 19: 7,229,809 (GRCm38) probably benign Het
Ncam2 A G 16: 81,434,810 (GRCm38) Y54C probably damaging Het
Nemf C T 12: 69,331,949 (GRCm38) S533N probably damaging Het
Nkain1 T A 4: 130,537,296 (GRCm38) I80F probably damaging Het
Olfr1335 A G 4: 118,809,255 (GRCm38) V203A probably damaging Het
Olfr695 G A 7: 106,874,095 (GRCm38) T50I probably benign Het
Olfr825 G A 10: 130,162,901 (GRCm38) R142C probably benign Het
Pde3b T C 7: 114,526,867 (GRCm38) S779P probably damaging Het
Prkar2a A G 9: 108,728,268 (GRCm38) Y175C probably damaging Het
Slc44a5 T C 3: 154,261,394 (GRCm38) probably benign Het
Smgc T A 15: 91,860,262 (GRCm38) probably benign Het
Tasp1 T A 2: 139,951,501 (GRCm38) S252C probably damaging Het
Tgfbrap1 A T 1: 43,059,154 (GRCm38) Y489N probably damaging Het
Topors C T 4: 40,262,123 (GRCm38) R387H probably benign Het
Ttn A G 2: 76,789,619 (GRCm38) S15902P probably damaging Het
Ttn T C 2: 76,850,303 (GRCm38) probably null 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
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
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'- ACAGATTTTCCCCTCCAAATTGAC -3'
(R):5'- AAAAGATCCATCATTGACCTGC -3'

Sequencing Primer
(F):5'- GCACCGCATAAAAACTGTTTTGGC -3'
(R):5'- GATCCATCATTGACCTGCTTAAG -3'
Posted On 2015-04-06