Incidental Mutation 'R7239:Lrrk1'
ID 563075
Institutional Source Beutler Lab
Gene Symbol Lrrk1
Ensembl Gene ENSMUSG00000015133
Gene Name leucine-rich repeat kinase 1
Synonyms D130026O16Rik, C230002E15Rik
MMRRC Submission 045346-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7239 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 65908493-66038089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65911903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1886 (T1886A)
Ref Sequence ENSEMBL: ENSMUSP00000015277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015277] [ENSMUST00000145954]
AlphaFold Q3UHC2
Predicted Effect probably benign
Transcript: ENSMUST00000015277
AA Change: T1886A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: T1886A

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
SMART Domains Protein: ENSMUSP00000114938
Gene: ENSMUSG00000015133

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (76/77)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik A G 16: 21,472,268 (GRCm39) V144A probably damaging Het
Abca5 A T 11: 110,217,530 (GRCm39) Y109N possibly damaging Het
Abcb5 T C 12: 118,892,460 (GRCm39) Q433R probably benign Het
Adamts7 G A 9: 90,068,610 (GRCm39) probably null Het
Adgrv1 T C 13: 81,624,731 (GRCm39) D3746G possibly damaging Het
Arhgap29 C T 3: 121,782,599 (GRCm39) S159L probably benign Het
Arhgap5 T A 12: 52,564,159 (GRCm39) C377S probably benign Het
Atp1a3 G A 7: 24,700,129 (GRCm39) P77L probably damaging Het
B4galt1 T C 4: 40,812,754 (GRCm39) D257G probably damaging Het
Bin1 T A 18: 32,539,224 (GRCm39) N52K probably damaging Het
Catsperg2 A G 7: 29,409,507 (GRCm39) M562T probably benign Het
Ccdc33 G A 9: 57,940,192 (GRCm39) Q713* probably null Het
Cd96 A T 16: 45,929,477 (GRCm39) L156Q probably damaging Het
Clpb A G 7: 101,360,662 (GRCm39) T231A probably damaging Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dnmt3a A T 12: 3,922,850 (GRCm39) Q151L probably benign Het
Dock2 C T 11: 34,181,677 (GRCm39) V1629M probably benign Het
Edem1 G A 6: 108,831,341 (GRCm39) D601N probably benign Het
Eno2 C T 6: 124,745,228 (GRCm39) V20M probably damaging Het
Eny2 A C 15: 44,297,250 (GRCm39) D52A probably benign Het
Esp36 T C 17: 38,728,132 (GRCm39) R93G possibly damaging Het
Fam227a A G 15: 79,518,263 (GRCm39) probably null Het
Fat4 C A 3: 39,037,989 (GRCm39) H3880Q possibly damaging Het
Fbxw24 A T 9: 109,434,598 (GRCm39) V334E possibly damaging Het
Flrt1 T C 19: 7,073,329 (GRCm39) Q406R probably benign Het
Frmpd2 A G 14: 33,274,034 (GRCm39) N1092S probably benign Het
Gm904 C A 13: 50,799,287 (GRCm39) T82K probably benign Het
Gnas G C 2: 174,140,408 (GRCm39) G252R unknown Het
Gpatch2l A G 12: 86,307,349 (GRCm39) probably null Het
H2ac6 A T 13: 23,867,593 (GRCm39) I103N probably damaging Het
Ift74 T C 4: 94,541,187 (GRCm39) V204A probably benign Het
Ikzf4 A G 10: 128,477,113 (GRCm39) L119P probably damaging Het
Ing3 G A 6: 21,952,193 (GRCm39) E56K probably damaging Het
Klhl25 T C 7: 75,516,516 (GRCm39) I474T probably benign Het
Klhl5 T C 5: 65,318,529 (GRCm39) V556A probably damaging Het
Krt14 A T 11: 100,095,081 (GRCm39) M382K probably benign Het
Lmcd1 T C 6: 112,292,745 (GRCm39) V199A possibly damaging Het
Lpcat4 T A 2: 112,073,052 (GRCm39) F200I possibly damaging Het
Lrp1b T C 2: 40,894,725 (GRCm39) T2282A Het
Meis2 T C 2: 115,889,484 (GRCm39) probably null Het
Mki67 C T 7: 135,301,905 (GRCm39) R1043K possibly damaging Het
Myct1 G T 10: 5,554,601 (GRCm39) R156L possibly damaging Het
Nckap5l G T 15: 99,324,090 (GRCm39) H804Q probably damaging Het
Ndst3 T G 3: 123,400,555 (GRCm39) E450D probably damaging Het
Nipbl A T 15: 8,321,619 (GRCm39) probably null Het
Npy A G 6: 49,800,587 (GRCm39) N4D probably benign Het
Or7g35 A T 9: 19,496,487 (GRCm39) Y218F probably damaging Het
Osgin2 T C 4: 16,008,748 (GRCm39) S18G probably benign Het
Pcdha9 T G 18: 37,131,551 (GRCm39) F207V probably benign Het
Pcdhb13 A T 18: 37,577,697 (GRCm39) I692F probably damaging Het
Pde3b T A 7: 114,015,384 (GRCm39) V200E probably damaging Het
Ppp6r3 A T 19: 3,543,981 (GRCm39) L345I probably benign Het
Psd2 G A 18: 36,113,472 (GRCm39) A315T probably damaging Het
Rnf111 G A 9: 70,376,655 (GRCm39) T328I probably damaging Het
Rnf213 T C 11: 119,349,614 (GRCm39) L3825P Het
Rtl1 C T 12: 109,558,909 (GRCm39) V977I probably benign Het
Scn1a G A 2: 66,108,000 (GRCm39) probably null Het
Slc25a2 G T 18: 37,770,748 (GRCm39) N260K probably benign Het
Sprtn T C 8: 125,626,983 (GRCm39) V121A probably damaging Het
Ssx2ip T G 3: 146,133,771 (GRCm39) L260W probably damaging Het
Syde1 G A 10: 78,424,615 (GRCm39) R406C probably damaging Het
Tab1 A G 15: 80,017,372 (GRCm39) R6G probably benign Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tenm4 G A 7: 96,385,020 (GRCm39) V526I possibly damaging Het
Tfap2b T C 1: 19,304,404 (GRCm39) F405L probably damaging Het
Trbv13-1 C A 6: 41,093,325 (GRCm39) T87K probably benign Het
Trmt44 G T 5: 35,732,130 (GRCm39) A87E probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn T C 2: 76,617,634 (GRCm39) D16279G probably damaging Het
Ttn G A 2: 76,711,672 (GRCm39) R8290C unknown Het
Ugt2b37 T A 5: 87,402,590 (GRCm39) I14L probably benign Het
Vmn1r13 A T 6: 57,187,611 (GRCm39) M257L probably benign Het
Vmn1r184 C T 7: 25,966,602 (GRCm39) P116L possibly damaging Het
Zfp426 T C 9: 20,381,887 (GRCm39) T367A probably benign Het
Zfp647 A T 15: 76,795,956 (GRCm39) C235S 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
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
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
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'- TCTTTAAGGAAGCCACGGG -3'
(R):5'- GCATCATGTACAGCGAGGAG -3'

Sequencing Primer
(F):5'- AAGCCACGGGTTCCACTC -3'
(R):5'- TGGGCACGCAGATCCTCAC -3'
Posted On 2019-06-26