Incidental Mutation 'R4672:Lrrk1'
ID 348530
Institutional Source Beutler Lab
Gene Symbol Lrrk1
Ensembl Gene ENSMUSG00000015133
Gene Name leucine-rich repeat kinase 1
Synonyms D130026O16Rik, C230002E15Rik
MMRRC Submission 041927-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4672 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 65908493-66038089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65929120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 86 (S86P)
Ref Sequence ENSEMBL: ENSMUSP00000114938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015277] [ENSMUST00000145954]
AlphaFold Q3UHC2
Predicted Effect probably benign
Transcript: ENSMUST00000015277
AA Change: S1171P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: S1171P

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 probably benign
Transcript: ENSMUST00000145954
AA Change: S86P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114938
Gene: ENSMUSG00000015133
AA Change: S86P

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (113/115)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,962,702 (GRCm39) L483F possibly damaging Het
Abca8b A G 11: 109,827,274 (GRCm39) F1507L possibly damaging Het
Adamdec1 C A 14: 68,815,353 (GRCm39) E104* probably null Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Alppl2 T C 1: 87,017,187 (GRCm39) probably benign Het
Aplnr A G 2: 84,967,524 (GRCm39) Y183C probably damaging Het
Atm G A 9: 53,433,501 (GRCm39) R250W probably damaging Het
B4galt7 T C 13: 55,757,132 (GRCm39) L275P probably damaging Het
Bltp1 A G 3: 36,944,139 (GRCm39) *330W probably null Het
Ccdc178 G A 18: 22,283,501 (GRCm39) Q10* probably null Het
Ccr9 T C 9: 123,608,752 (GRCm39) Y145H probably damaging Het
Cd209f C T 8: 4,153,685 (GRCm39) G188D probably damaging Het
Cep70 T A 9: 99,136,365 (GRCm39) S23T possibly damaging Het
Cpped1 C A 16: 11,623,238 (GRCm39) E294* probably null Het
Crisp1 T A 17: 40,605,404 (GRCm39) probably null Het
Disp1 T C 1: 182,880,215 (GRCm39) probably null Het
Dlg2 A T 7: 91,935,743 (GRCm39) M624L probably damaging Het
Elf2 A G 3: 51,163,855 (GRCm39) V558A probably damaging Het
Eno2 T C 6: 124,743,109 (GRCm39) D209G probably damaging Het
Fam187b G A 7: 30,676,968 (GRCm39) R159H probably damaging Het
Fh1 G A 1: 175,431,617 (GRCm39) A423V probably benign Het
Frg1 C T 8: 41,853,846 (GRCm39) D164N probably benign Het
Fsbp T G 4: 11,579,841 (GRCm39) N36K probably benign Het
Gcn1 A G 5: 115,744,579 (GRCm39) T1592A probably damaging Het
Gimap3 A G 6: 48,742,687 (GRCm39) I81T probably damaging Het
Gjb6 C T 14: 57,362,235 (GRCm39) V9I probably benign Het
Gkap1 T C 13: 58,411,770 (GRCm39) S68G possibly damaging Het
Gpatch8 A T 11: 102,369,784 (GRCm39) S1251R probably damaging Het
Gria4 A G 9: 4,664,981 (GRCm39) F92L possibly damaging Het
H2-Q1 C A 17: 35,539,906 (GRCm39) D58E probably damaging Het
Hs1bp3 G T 12: 8,391,983 (GRCm39) G362* probably null Het
Igfn1 T A 1: 135,893,107 (GRCm39) H2114L possibly damaging Het
Igkv12-98 A G 6: 68,547,940 (GRCm39) Q22R probably benign Het
Ing3 A G 6: 21,965,729 (GRCm39) probably null Het
Insr C T 8: 3,217,501 (GRCm39) probably null Het
Kdm3b T C 18: 34,941,630 (GRCm39) S374P probably benign Het
Kif14 A C 1: 136,449,016 (GRCm39) Q1472P probably benign Het
Kif14 G T 1: 136,449,017 (GRCm39) Q1472H probably benign Het
Knstrn A G 2: 118,664,512 (GRCm39) E202G probably damaging Het
Knstrn G T 2: 118,664,513 (GRCm39) E202D possibly damaging Het
Krt12 A G 11: 99,309,509 (GRCm39) probably benign Het
Lgi3 A T 14: 70,771,897 (GRCm39) I195F possibly damaging Het
Lima1 T C 15: 99,741,590 (GRCm39) N29D probably damaging Het
Liph T C 16: 21,802,806 (GRCm39) I88V probably benign Het
Lsamp A G 16: 41,775,697 (GRCm39) R166G probably damaging Het
Mamdc2 T A 19: 23,328,148 (GRCm39) N407Y probably damaging Het
Mast3 CATA CA 8: 71,237,441 (GRCm39) probably null Het
Megf6 T A 4: 154,333,909 (GRCm39) N212K probably damaging Het
Met A C 6: 17,571,803 (GRCm39) D1374A probably benign Het
Mrc2 A G 11: 105,233,923 (GRCm39) T902A probably benign Het
Mroh3 T A 1: 136,118,713 (GRCm39) T535S probably benign Het
Muc1 G T 3: 89,139,384 (GRCm39) V595L probably damaging Het
Myh2 T A 11: 67,079,303 (GRCm39) L957Q probably damaging Het
Myorg T A 4: 41,499,061 (GRCm39) M190L probably benign Het
Ncl A T 1: 86,284,324 (GRCm39) D257E probably benign Het
Nipbl T A 15: 8,332,468 (GRCm39) D2263V probably damaging Het
Optc C A 1: 133,825,555 (GRCm39) V324L possibly damaging Het
Or4k15 A G 14: 50,364,714 (GRCm39) N227D probably benign Het
Or4k42 A T 2: 111,319,902 (GRCm39) N200K possibly damaging Het
Or7g35 A G 9: 19,496,726 (GRCm39) K298E possibly damaging Het
Osbpl9 A G 4: 108,921,806 (GRCm39) I604T possibly damaging Het
Otog C A 7: 45,939,210 (GRCm39) A2080D probably damaging Het
Parp6 G C 9: 59,547,393 (GRCm39) R460P probably damaging Het
Phactr4 G T 4: 132,098,017 (GRCm39) P417Q probably damaging Het
Pigt T C 2: 164,339,498 (GRCm39) probably benign Het
Plekha5 A G 6: 140,470,655 (GRCm39) I99V probably damaging Het
Plxna3 T G X: 73,382,554 (GRCm39) probably null Het
Ppp2r1b G A 9: 50,779,019 (GRCm39) M362I probably damaging Het
Pramel34 T A 5: 93,784,182 (GRCm39) R230S probably damaging Het
Rad51 A G 2: 118,954,327 (GRCm39) I136V probably benign Het
Rad54b T A 4: 11,609,449 (GRCm39) H633Q probably benign Het
Rasal2 A G 1: 157,071,231 (GRCm39) F41S probably benign Het
Reep3 T A 10: 66,857,629 (GRCm39) H154L probably benign Het
Rp1l1 T G 14: 64,268,719 (GRCm39) V1435G probably damaging Het
Rps6ka5 C A 12: 100,620,546 (GRCm39) K125N possibly damaging Het
Rsad1 A T 11: 94,434,444 (GRCm39) M330K probably damaging Het
Scand1 A G 2: 156,153,850 (GRCm39) probably null Het
Setd6 A G 8: 96,444,640 (GRCm39) H111R probably null Het
Slc27a3 T C 3: 90,294,953 (GRCm39) N368S possibly damaging Het
Slc38a2 T C 15: 96,596,518 (GRCm39) T32A probably benign Het
Smg7 A G 1: 152,721,164 (GRCm39) S683P probably damaging Het
Smyd2 A T 1: 189,642,101 (GRCm39) L62M probably damaging Het
Sox5 T C 6: 143,779,075 (GRCm39) Y687C probably damaging Het
Spaca6 T A 17: 18,057,005 (GRCm39) C53* probably null Het
Spata31e4 T C 13: 50,857,208 (GRCm39) Y949H probably benign Het
Spire2 T C 8: 124,084,850 (GRCm39) V230A probably benign Het
Sptbn2 G T 19: 4,782,524 (GRCm39) V487L probably benign Het
Stk3 T A 15: 35,099,603 (GRCm39) I110L probably benign Het
Stox2 T A 8: 47,645,141 (GRCm39) Y773F probably damaging Het
Tbrg1 C A 9: 37,562,632 (GRCm39) A259S probably damaging Het
Tnfsf18 C A 1: 161,331,307 (GRCm39) D152E probably benign Het
Tpr G A 1: 150,299,318 (GRCm39) A1173T probably benign Het
Trrap T C 5: 144,722,290 (GRCm39) L271P probably damaging Het
Ttn G T 2: 76,657,419 (GRCm39) probably benign Het
U2surp A G 9: 95,375,198 (GRCm39) S192P possibly damaging Het
Ubr4 C T 4: 139,138,027 (GRCm39) S1128L probably damaging Het
Ucma G A 2: 4,981,465 (GRCm39) probably null Het
Urb1 A T 16: 90,569,522 (GRCm39) D1401E probably benign Het
Usp54 A T 14: 20,631,597 (GRCm39) probably benign Het
Vmn1r31 A G 6: 58,449,056 (GRCm39) Y270H probably damaging Het
Vmn1r90 T A 7: 14,295,493 (GRCm39) T202S probably benign Het
Vmn2r88 A G 14: 51,655,612 (GRCm39) Y616C probably damaging Het
Vmn2r95 T A 17: 18,672,413 (GRCm39) W717R probably damaging Het
Zcchc4 C A 5: 52,953,947 (GRCm39) T209K probably benign Het
Zfp955b T A 17: 33,524,233 (GRCm39) 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
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
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'- GAAGTCAGTCATGAACAGCTCTG -3'
(R):5'- AGTCACCACAGAGCAGTACTGG -3'

Sequencing Primer
(F):5'- CTGGTACAAGCTCCTGAAGTGGTAC -3'
(R):5'- CCACAGAGCAGTACTGGATTTCTG -3'
Posted On 2015-10-08