Incidental Mutation 'R4729:Lrrk1'
ID 358681
Institutional Source Beutler Lab
Gene Symbol Lrrk1
Ensembl Gene ENSMUSG00000015133
Gene Name leucine-rich repeat kinase 1
Synonyms D130026O16Rik, C230002E15Rik
MMRRC Submission 041603-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4729 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 65908493-66038089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65912041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1840 (M1840L)
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: M1840L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: M1840L

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 noncoding transcript
Transcript: ENSMUST00000131239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137181
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167705
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,667,187 (GRCm39) L220H unknown Het
Amt T A 9: 108,177,851 (GRCm39) L272Q probably damaging Het
Ank2 G C 3: 126,770,545 (GRCm39) Y894* probably null Het
Ankzf1 T A 1: 75,170,908 (GRCm39) F105I probably damaging Het
Aox4 C A 1: 58,298,236 (GRCm39) Y1067* probably null Het
BC034090 T A 1: 155,100,836 (GRCm39) Q476L probably damaging Het
Bhmt G T 13: 93,763,871 (GRCm39) R57S probably damaging Het
Cacna1c A T 6: 118,633,136 (GRCm39) F964L probably damaging Het
Celsr3 A C 9: 108,724,851 (GRCm39) S396R probably benign Het
Cpne4 C A 9: 104,799,755 (GRCm39) Q191K probably damaging Het
Csnk1g2 T C 10: 80,475,038 (GRCm39) Y352H probably benign Het
D630003M21Rik A G 2: 158,058,623 (GRCm39) S426P probably damaging Het
Dennd10 T A 19: 60,823,309 (GRCm39) F315I probably benign Het
Dido1 G T 2: 180,329,443 (GRCm39) N326K probably benign Het
E2f2 T A 4: 135,911,760 (GRCm39) I257N probably damaging Het
Elfn1 T G 5: 139,959,413 (GRCm39) F806V probably damaging Het
Eml6 T A 11: 29,783,204 (GRCm39) Y559F probably damaging Het
Erich6 A G 3: 58,543,480 (GRCm39) probably null Het
Fam78a T C 2: 31,972,617 (GRCm39) N101S probably damaging Het
Fam83h A G 15: 75,874,185 (GRCm39) S1051P probably benign Het
Galns C T 8: 123,330,195 (GRCm39) G112D probably damaging Het
Gm9923 A G 10: 72,145,524 (GRCm39) K125R probably damaging Het
Hectd3 G A 4: 116,854,415 (GRCm39) V326M probably damaging Het
Iars2 A G 1: 185,048,248 (GRCm39) S495P possibly damaging Het
Ice1 T C 13: 70,754,503 (GRCm39) R528G probably damaging Het
Igkv12-38 T A 6: 69,920,368 (GRCm39) Y50F possibly damaging Het
Inpp5j T C 11: 3,445,025 (GRCm39) S883G probably damaging Het
Irf8 T C 8: 121,480,178 (GRCm39) S139P probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Kcnq4 G T 4: 120,570,271 (GRCm39) D357E possibly damaging Het
Klhl1 A G 14: 96,517,584 (GRCm39) L364P probably damaging Het
Krt7 A G 15: 101,318,439 (GRCm39) I309V probably benign Het
Krt76 G T 15: 101,797,516 (GRCm39) A281D probably damaging Het
Lancl2 T C 6: 57,714,697 (GRCm39) F430L probably damaging Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc26 A T 2: 25,180,076 (GRCm39) T26S probably benign Het
Lyst G A 13: 13,812,486 (GRCm39) C966Y probably damaging Het
Mad1l1 T A 5: 140,247,266 (GRCm39) S354C possibly damaging Het
Mbtps1 C T 8: 120,252,159 (GRCm39) G577D probably damaging Het
Mycbp2 C T 14: 103,426,027 (GRCm39) R2366H probably damaging Het
Myo18a T G 11: 77,668,511 (GRCm39) probably null Het
Naip5 G A 13: 100,358,639 (GRCm39) R866C possibly damaging Het
Nav2 T A 7: 49,102,567 (GRCm39) V455E probably benign Het
Neb A G 2: 52,153,674 (GRCm39) I2417T possibly damaging Het
Nme5 C T 18: 34,702,890 (GRCm39) A133T probably benign Het
Nradd T C 9: 110,450,979 (GRCm39) D51G possibly damaging Het
Pard3b A G 1: 62,250,843 (GRCm39) R591G probably damaging Het
Pcbp4 T C 9: 106,337,929 (GRCm39) F73S probably damaging Het
Pcdhb11 C T 18: 37,555,419 (GRCm39) Q250* probably null Het
Pde1c T A 6: 56,049,194 (GRCm39) K766N probably damaging Het
Phf21b G A 15: 84,738,942 (GRCm39) Q40* probably null Het
Prr14 A G 7: 127,073,868 (GRCm39) D244G probably benign Het
Rab11fip5 C T 6: 85,351,249 (GRCm39) A88T probably damaging Het
Rad54l2 A T 9: 106,593,317 (GRCm39) S428T probably benign Het
Rdh9 A G 10: 127,612,621 (GRCm39) I90V probably benign Het
Rhag G T 17: 41,139,292 (GRCm39) G76C probably damaging Het
Riok3 T A 18: 12,261,984 (GRCm39) V6E possibly damaging Het
Rnf7l A T 10: 63,257,244 (GRCm39) V92E probably damaging Het
Scn10a A G 9: 119,500,592 (GRCm39) I229T probably damaging Het
Slco1a1 G T 6: 141,854,695 (GRCm39) T652K probably benign Het
Slit1 T A 19: 41,635,459 (GRCm39) I345F probably damaging Het
Snrnp200 A T 2: 127,074,857 (GRCm39) I1477F probably damaging Het
Snx31 G A 15: 36,523,698 (GRCm39) T328I possibly damaging Het
Strn A G 17: 78,965,390 (GRCm39) F634S probably damaging Het
Tmem101 C T 11: 102,047,155 (GRCm39) G6R probably benign Het
Tmem199 C G 11: 78,399,506 (GRCm39) G131R probably benign Het
Trim66 A G 7: 109,055,267 (GRCm39) probably null Het
Ttn G T 2: 76,681,929 (GRCm39) probably benign Het
Upk3bl T C 5: 136,086,247 (GRCm39) L61P probably benign Het
Vmn2r108 A G 17: 20,692,632 (GRCm39) Y75H probably damaging Het
Vmn2r91 T A 17: 18,327,906 (GRCm39) I500K probably damaging Het
Vps18 C T 2: 119,124,272 (GRCm39) R400C probably damaging Het
Zeb1 C T 18: 5,767,286 (GRCm39) P599L probably damaging Het
Zfhx4 G T 3: 5,464,557 (GRCm39) A1572S probably damaging Het
Zfp677 T A 17: 21,617,680 (GRCm39) C246S possibly damaging Het
Zfp719 T A 7: 43,239,834 (GRCm39) I474N 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
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'- GTCTTTGACAGCAAGCACCTTC -3'
(R):5'- CAGGGACACGTTTTCTGTGC -3'

Sequencing Primer
(F):5'- AGGTGCTGGCTGAACGTCTC -3'
(R):5'- TGTGCAGCCTTCAGTCCTAGAAAC -3'
Posted On 2015-11-11