Incidental Mutation 'R1891:Lrrk1'
ID 211491
Institutional Source Beutler Lab
Gene Symbol Lrrk1
Ensembl Gene ENSMUSG00000015133
Gene Name leucine-rich repeat kinase 1
Synonyms D130026O16Rik, C230002E15Rik
MMRRC Submission 039911-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1891 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 65908493-66038089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65929048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 1195 (L1195F)
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: L1195F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: L1195F

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: L110F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114938
Gene: ENSMUSG00000015133
AA Change: L110F

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
Validation Efficiency
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,840,874 (GRCm39) I921T possibly damaging Het
Abca8a T C 11: 109,982,433 (GRCm39) K3R probably benign Het
Adgrl3 A T 5: 81,659,891 (GRCm39) D152V probably damaging Het
Akap6 A T 12: 53,188,958 (GRCm39) D2124V possibly damaging Het
Akt1 A G 12: 112,626,009 (GRCm39) F88L probably damaging Het
Ankrd24 T C 10: 81,479,342 (GRCm39) probably benign Het
Arid4b T A 13: 14,310,821 (GRCm39) N141K possibly damaging Het
Cacna1c C A 6: 118,753,480 (GRCm39) D219Y probably damaging Het
Ccdc113 A G 8: 96,267,544 (GRCm39) K170E probably damaging Het
Ceacam9 A G 7: 16,457,880 (GRCm39) E136G probably damaging Het
Cfap43 A G 19: 47,802,380 (GRCm39) L333P probably damaging Het
Chl1 A G 6: 103,691,544 (GRCm39) D1062G possibly damaging Het
Cimip4 T A 15: 78,262,952 (GRCm39) D234V probably damaging Het
Ckb TCCACCACCA TCCACCA 12: 111,636,079 (GRCm39) probably benign Het
Clpp T A 17: 57,298,307 (GRCm39) V91E probably damaging Het
Cndp1 A T 18: 84,637,758 (GRCm39) H325Q probably null Het
Cngb3 A G 4: 19,366,446 (GRCm39) N169S probably benign Het
Cog6 A C 3: 52,890,601 (GRCm39) I613R probably benign Het
Creb3l1 A G 2: 91,817,385 (GRCm39) L376P probably damaging Het
Cry2 A T 2: 92,243,985 (GRCm39) V396D possibly damaging Het
Cxxc5 A G 18: 35,992,318 (GRCm39) M240V possibly damaging Het
Defa28 G A 8: 22,073,801 (GRCm39) C68Y probably damaging Het
Ecd A G 14: 20,388,227 (GRCm39) I187T probably damaging Het
Erg28 A G 12: 85,862,962 (GRCm39) S117P probably benign Het
Ergic2 A T 6: 148,084,577 (GRCm39) C319S probably damaging Het
Ess2 C T 16: 17,725,644 (GRCm39) W183* probably null Het
Evc2 A C 5: 37,549,423 (GRCm39) D773A probably damaging Het
Fam151b T A 13: 92,586,678 (GRCm39) T252S probably benign Het
Fbxo28 A T 1: 182,145,389 (GRCm39) M233K probably benign Het
Fbxw26 T G 9: 109,551,232 (GRCm39) D355A probably benign Het
Gm4884 G C 7: 40,692,539 (GRCm39) E169D possibly damaging Het
Hk2 C T 6: 82,726,264 (GRCm39) R94Q probably benign Het
Hps4 G A 5: 112,517,422 (GRCm39) probably null Het
Hspg2 T A 4: 137,292,801 (GRCm39) D4126E probably damaging Het
Kif13a T C 13: 47,082,695 (GRCm39) E48G possibly damaging Het
Krt31 T A 11: 99,938,634 (GRCm39) N320Y probably damaging Het
Lca5 T C 9: 83,277,661 (GRCm39) Y561C probably damaging Het
Ly6g6d A C 17: 35,293,269 (GRCm39) Y25* probably null Het
Map3k13 T G 16: 21,729,836 (GRCm39) M489R probably damaging Het
Mcm6 C T 1: 128,263,547 (GRCm39) R658H probably damaging Het
Mecp2 C T X: 73,080,781 (GRCm39) A79T probably damaging Het
Mitf A G 6: 97,918,237 (GRCm39) T94A probably benign Het
Mpo T A 11: 87,692,106 (GRCm39) L513* probably null Het
Mst1r T A 9: 107,790,661 (GRCm39) N722K probably damaging Het
Mthfd1l T A 10: 3,982,284 (GRCm39) L497* probably null Het
Mtus1 C T 8: 41,537,362 (GRCm39) S118N probably damaging Het
Mybbp1a C T 11: 72,336,863 (GRCm39) T565I probably benign Het
Naip2 C T 13: 100,291,395 (GRCm39) R1181K probably benign Het
Nbas T C 12: 13,440,973 (GRCm39) M1101T possibly damaging Het
Odad3 G T 9: 21,906,677 (GRCm39) probably null Het
Or2y1b T C 11: 49,208,684 (GRCm39) F104L probably benign Het
Or4f60 A T 2: 111,902,739 (GRCm39) L63Q probably damaging Het
Or52l1 A T 7: 104,829,754 (GRCm39) Y270* probably null Het
Or5ae1 T A 7: 84,565,461 (GRCm39) V158D possibly damaging Het
Or6c33 T C 10: 129,853,439 (GRCm39) S70P probably damaging Het
Or7a40 T A 16: 16,491,441 (GRCm39) I135F probably damaging Het
Or7g20 T C 9: 18,947,274 (GRCm39) L285S probably damaging Het
Or8b12b T A 9: 37,684,163 (GRCm39) D69E possibly damaging Het
Oxct2b A G 4: 123,010,938 (GRCm39) D286G probably benign Het
Pax5 A T 4: 44,691,859 (GRCm39) V129E probably damaging Het
Pax7 G A 4: 139,511,937 (GRCm39) R215C probably damaging Het
Pcdh7 A T 5: 57,878,217 (GRCm39) I591F probably damaging Het
Pcdhb22 T C 18: 37,652,357 (GRCm39) V275A probably damaging Het
Pkp3 C T 7: 140,663,969 (GRCm39) probably null Het
Plekhb1 A G 7: 100,304,599 (GRCm39) L35P probably damaging Het
Pole T A 5: 110,480,408 (GRCm39) F1993Y probably damaging Het
Pramel28 A T 4: 143,693,235 (GRCm39) V81E probably damaging Het
Prdx1 T C 4: 116,556,451 (GRCm39) *200R probably null Het
Prkdc C A 16: 15,543,300 (GRCm39) T1777N probably benign Het
Prss59 A T 6: 40,902,967 (GRCm39) M135K possibly damaging Het
Ptpn14 G A 1: 189,530,850 (GRCm39) V106M probably damaging Het
Ptpn23 T C 9: 110,222,868 (GRCm39) E63G possibly damaging Het
Qser1 A C 2: 104,620,444 (GRCm39) S123A probably benign Het
Rbm11 A G 16: 75,397,675 (GRCm39) N202D possibly damaging Het
Robo3 T A 9: 37,339,351 (GRCm39) Y212F probably damaging Het
Sde2 G A 1: 180,687,573 (GRCm39) S153N probably benign Het
Serpinb1c T A 13: 33,068,235 (GRCm39) D179V probably benign Het
Skint6 T C 4: 112,703,893 (GRCm39) D994G possibly damaging Het
Sorbs1 A G 19: 40,381,904 (GRCm39) S46P probably damaging Het
St8sia4 T C 1: 95,519,433 (GRCm39) T352A possibly damaging Het
Stab1 C A 14: 30,863,287 (GRCm39) R2133L probably benign Het
Stk11ip T C 1: 75,509,060 (GRCm39) C730R probably benign Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tle4 A T 19: 14,522,150 (GRCm39) probably null Het
Tmem200a T A 10: 25,869,970 (GRCm39) N100Y probably damaging Het
Tnnt2 A T 1: 135,768,597 (GRCm39) probably null Het
Ttn T A 2: 76,706,302 (GRCm39) probably benign Het
Ubac1 A G 2: 25,904,974 (GRCm39) V88A probably benign Het
Urgcp T C 11: 5,666,910 (GRCm39) E476G probably benign Het
Vmn1r201 G A 13: 22,659,425 (GRCm39) R213H probably benign Het
Vmn2r84 C T 10: 130,221,938 (GRCm39) V761M possibly damaging Het
Vwde A T 6: 13,187,454 (GRCm39) Y678N probably damaging Het
Wnk2 C A 13: 49,206,200 (GRCm39) E1865* probably null Het
Zc3h3 A C 15: 75,628,780 (GRCm39) M838R possibly damaging Het
Zfp959 T A 17: 56,204,604 (GRCm39) C211S probably 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
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
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'- GTCTGTCACCCCATGGTTAC -3'
(R):5'- AGGGTACTGCTCAGAACACC -3'

Sequencing Primer
(F):5'- CCCATGGTTACAGCGCTAAG -3'
(R):5'- TACTGCTCAGAACACCCACGG -3'
Posted On 2014-06-30