Incidental Mutation 'R2107:Lrrk1'
ID 232170
Institutional Source Beutler Lab
Gene Symbol Lrrk1
Ensembl Gene ENSMUSG00000015133
Gene Name leucine-rich repeat kinase 1
Synonyms D130026O16Rik, C230002E15Rik
MMRRC Submission 040111-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2107 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 65908493-66038089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 65929030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 1201 (D1201Y)
Ref Sequence ENSEMBL: ENSMUSP00000015277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015277] [ENSMUST00000145954]
AlphaFold Q3UHC2
Predicted Effect probably damaging
Transcript: ENSMUST00000015277
AA Change: D1201Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: D1201Y

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 damaging
Transcript: ENSMUST00000145954
AA Change: D116Y

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114938
Gene: ENSMUSG00000015133
AA Change: D116Y

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 0.5985 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (72/72)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,685,744 (GRCm39) L364Q probably damaging Het
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Acp2 G A 2: 91,033,940 (GRCm39) probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Cblb T A 16: 51,973,079 (GRCm39) probably null Het
Ccdc88c G T 12: 100,887,808 (GRCm39) D1557E probably benign Het
Cdc20 T C 4: 118,290,710 (GRCm39) Y430C probably damaging Het
Cdk5rap1 C T 2: 154,195,166 (GRCm39) D350N probably benign Het
Cgrrf1 T A 14: 47,090,833 (GRCm39) probably benign Het
Chia1 T A 3: 106,036,156 (GRCm39) Y185* probably null Het
Cmtm8 A T 9: 114,625,176 (GRCm39) V85D possibly damaging Het
Cplx4 A G 18: 66,089,964 (GRCm39) S152P probably benign Het
Crmp1 G T 5: 37,399,838 (GRCm39) R117L probably benign Het
Csad G C 15: 102,087,469 (GRCm39) L365V probably null Het
Dyrk1a C T 16: 94,487,386 (GRCm39) T532M probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fan1 T G 7: 64,016,536 (GRCm39) R529S probably damaging Het
Fbln5 A G 12: 101,737,528 (GRCm39) W173R probably damaging Het
Gm9611 A T 14: 42,116,611 (GRCm39) N42K possibly damaging Het
Gnal T A 18: 67,346,649 (GRCm39) L257Q probably damaging Het
Hint3 A T 10: 30,494,252 (GRCm39) F33I probably damaging Het
Ipcef1 A G 10: 6,840,501 (GRCm39) S403P probably benign Het
Kmt2c T C 5: 25,514,822 (GRCm39) N3007S probably benign Het
Kpna3 T C 14: 61,607,933 (GRCm39) D424G possibly damaging Het
Krt90 A G 15: 101,471,064 (GRCm39) I66T probably benign Het
Lamc2 A G 1: 153,030,132 (GRCm39) probably benign Het
Lmtk3 G T 7: 45,443,393 (GRCm39) C692F possibly damaging Het
Lrguk T C 6: 34,039,296 (GRCm39) M269T probably benign Het
Lrrc19 T A 4: 94,527,531 (GRCm39) T227S probably benign Het
Matn2 T A 15: 34,423,905 (GRCm39) Y588N probably damaging Het
Mmp1b A G 9: 7,369,310 (GRCm39) W346R probably damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Nedd9 A T 13: 41,492,455 (GRCm39) C12* probably null Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nisch C T 14: 30,894,097 (GRCm39) V172I probably damaging Het
Npy2r A T 3: 82,448,436 (GRCm39) probably null Het
Ogg1 C A 6: 113,306,254 (GRCm39) N150K probably damaging Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or1p1 T C 11: 74,180,216 (GRCm39) V248A probably damaging Het
Or6c219 A G 10: 129,781,581 (GRCm39) S2P probably damaging Het
Pck1 G C 2: 172,995,861 (GRCm39) E120Q probably benign Het
Pde11a A G 2: 76,168,266 (GRCm39) V229A probably damaging Het
Pias2 T C 18: 77,185,167 (GRCm39) F83L probably benign Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Plin3 A T 17: 56,591,391 (GRCm39) S130T probably benign Het
Rcc2 A G 4: 140,448,496 (GRCm39) Y515C probably damaging Het
Rgs12 A G 5: 35,124,079 (GRCm39) K621E possibly damaging Het
Rnf6 G A 5: 146,148,091 (GRCm39) T309I probably damaging Het
Rpusd3 G T 6: 113,392,523 (GRCm39) T335N probably damaging Het
Scn8a A T 15: 100,916,244 (GRCm39) I1218F probably damaging Het
Slc23a1 T A 18: 35,758,879 (GRCm39) Q104L possibly damaging Het
Slc34a3 A T 2: 25,120,999 (GRCm39) V363D probably damaging Het
Smap1 A T 1: 23,887,535 (GRCm39) M248K possibly damaging Het
Sp1 A G 15: 102,318,113 (GRCm39) probably null Het
Tasor T A 14: 27,183,744 (GRCm39) probably null Het
Tbc1d1 T G 5: 64,442,048 (GRCm39) N689K probably benign Het
Tff2 T C 17: 31,361,256 (GRCm39) E99G possibly damaging Het
Tjp3 T C 10: 81,116,378 (GRCm39) N239D possibly damaging Het
Trim37 G A 11: 87,050,651 (GRCm39) R230Q probably benign Het
Ubr5 A G 15: 37,989,546 (GRCm39) M2090T probably benign Het
Unc13a T C 8: 72,108,895 (GRCm39) probably null Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vav2 T C 2: 27,157,315 (GRCm39) E829G probably damaging Het
Vps35l T C 7: 118,393,762 (GRCm39) probably benign Het
Zfp26 A T 9: 20,353,533 (GRCm39) D85E probably benign Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging 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
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'- CCCATGGTTACAGCGCTAAG -3'
(R):5'- GAGTTCTAGGGTACTGCTCAGAAC -3'

Sequencing Primer
(F):5'- TAAGCCGTGAACTGGTCG -3'
(R):5'- TTCACAGGAGCTGTCCCC -3'
Posted On 2014-09-18