Incidental Mutation 'R5254:Lrrk1'
ID 486786
Institutional Source Beutler Lab
Gene Symbol Lrrk1
Ensembl Gene ENSMUSG00000015133
Gene Name leucine-rich repeat kinase 1
Synonyms D130026O16Rik, C230002E15Rik
MMRRC Submission 042825-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5254 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 65908493-66038089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65956855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 372 (N372I)
Ref Sequence ENSEMBL: ENSMUSP00000015277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015277]
AlphaFold Q3UHC2
Predicted Effect probably benign
Transcript: ENSMUST00000015277
AA Change: N372I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: N372I

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: ENSMUST00000207140
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (82/84)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 G T 8: 71,911,042 (GRCm39) C296* probably null Het
Adam11 T A 11: 102,665,098 (GRCm39) Y413* probably null Het
Ankhd1 A G 18: 36,789,768 (GRCm39) I907V probably benign Het
Arrdc5 A G 17: 56,604,897 (GRCm39) I130T probably benign Het
Asic5 T A 3: 81,928,294 (GRCm39) I419K probably damaging Het
Atp4a A T 7: 30,414,955 (GRCm39) E248V probably damaging Het
Avil C A 10: 126,847,630 (GRCm39) V154L probably benign Het
Bclaf1 T A 10: 20,199,282 (GRCm39) H226Q possibly damaging Het
Cald1 A G 6: 34,723,351 (GRCm39) probably benign Het
Cd200r4 A C 16: 44,652,453 (GRCm39) D27A possibly damaging Het
Cdsn T A 17: 35,863,099 (GRCm39) M1K probably null Het
Cfap46 T A 7: 139,258,430 (GRCm39) H281L possibly damaging Het
Chaf1a T C 17: 56,369,606 (GRCm39) F533L probably benign Het
Chil4 T A 3: 106,126,768 (GRCm39) I5F probably benign Het
Ctu2 A T 8: 123,203,327 (GRCm39) R48W probably damaging Het
Daam1 A T 12: 71,993,350 (GRCm39) H373L unknown Het
Dcaf10 T A 4: 45,370,415 (GRCm39) Y328N possibly damaging Het
Dst A T 1: 34,217,012 (GRCm39) K1151* probably null Het
Ect2 T C 3: 27,184,219 (GRCm39) D503G probably damaging Het
Epm2a C A 10: 11,333,089 (GRCm39) D307E probably benign Het
Exph5 A T 9: 53,249,230 (GRCm39) D73V probably damaging Het
Fam20b C T 1: 156,533,310 (GRCm39) G102D probably damaging Het
Fat2 T C 11: 55,172,001 (GRCm39) N2904S probably damaging Het
Flt3 T A 5: 147,312,500 (GRCm39) Q147L possibly damaging Het
Fndc11 A G 2: 180,863,956 (GRCm39) T254A possibly damaging Het
Galnt15 C T 14: 31,780,244 (GRCm39) R514* probably null Het
Gbgt1 A G 2: 28,395,220 (GRCm39) D286G probably damaging Het
Ggt1 T A 10: 75,415,032 (GRCm39) probably null Het
Gm26526 A T 7: 39,238,658 (GRCm39) noncoding transcript Het
H2-K2 T C 17: 34,216,436 (GRCm39) T237A probably damaging Het
Igf1r T A 7: 67,857,067 (GRCm39) S1010T probably damaging Het
Il21 T C 3: 37,281,884 (GRCm39) T87A possibly damaging Het
Kmt2b G A 7: 30,268,600 (GRCm39) R2010C probably damaging Het
Kmt2c G A 5: 25,519,592 (GRCm39) P2173S probably benign Het
Krt1 A T 15: 101,754,803 (GRCm39) S512T unknown Het
Krtap16-1 G A 11: 99,876,424 (GRCm39) R327* probably null Het
Lama1 T A 17: 68,063,711 (GRCm39) I745N probably benign Het
Lyst A T 13: 13,857,655 (GRCm39) E2481D probably benign Het
Map2k1 A T 9: 64,095,027 (GRCm39) probably benign Het
Mbip A G 12: 56,384,228 (GRCm39) V215A probably damaging Het
Mdc1 T A 17: 36,158,814 (GRCm39) V398D probably benign Het
Mog T G 17: 37,323,264 (GRCm39) I225L probably benign Het
Mrgprx3-ps T A 7: 46,959,184 (GRCm39) noncoding transcript Het
Muc5b C T 7: 141,418,277 (GRCm39) S3741L probably benign Het
Myo5a A T 9: 75,037,402 (GRCm39) I202F probably damaging Het
Myo5b A T 18: 74,833,677 (GRCm39) I818F possibly damaging Het
Nfia T A 4: 97,902,534 (GRCm39) M262K probably damaging Het
Nisch C T 14: 30,928,524 (GRCm39) probably null Het
Nkd1 A G 8: 89,315,822 (GRCm39) D64G probably damaging Het
Nt5c2 T A 19: 46,881,999 (GRCm39) K284* probably null Het
Or14a259 A T 7: 86,013,398 (GRCm39) V49E possibly damaging Het
Or4k15b C A 14: 50,272,135 (GRCm39) A242S possibly damaging Het
Or4l1 A T 14: 50,166,236 (GRCm39) I255N probably damaging Het
Or52z14 T G 7: 103,252,996 (GRCm39) I45R probably benign Het
Or5an1c A G 19: 12,218,612 (GRCm39) S138P probably damaging Het
Or5j3 A T 2: 86,128,265 (GRCm39) Y35F probably damaging Het
Or8g55 A T 9: 39,784,741 (GRCm39) T57S possibly damaging Het
Or8k24 A T 2: 86,216,484 (GRCm39) S93T possibly damaging Het
Pcdhb17 A T 18: 37,619,878 (GRCm39) D556V probably damaging Het
Pcdhga8 A T 18: 37,859,673 (GRCm39) D243V probably benign Het
Polq A T 16: 36,909,681 (GRCm39) Q2355L probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc5a4a C A 10: 76,018,572 (GRCm39) Y506* probably null Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Tarbp1 G A 8: 127,193,895 (GRCm39) H336Y probably damaging Het
Tas2r134 T G 2: 51,517,559 (GRCm39) F13V probably benign Het
Tgfb2 A G 1: 186,436,680 (GRCm39) Y98H probably damaging Het
Tmprss11a C A 5: 86,559,665 (GRCm39) V376L probably damaging Het
Tmprss11f T A 5: 86,685,892 (GRCm39) K158N probably benign Het
Tnip2 G T 5: 34,660,922 (GRCm39) Q177K probably damaging Het
Trp53inp1 T A 4: 11,165,075 (GRCm39) probably null Het
Ttc28 C T 5: 111,419,104 (GRCm39) P1398S probably benign Het
Umodl1 T G 17: 31,199,333 (GRCm39) I308S possibly damaging Het
Vcan A T 13: 89,839,719 (GRCm39) S1942T probably damaging Het
Vmn2r124 T A 17: 18,283,339 (GRCm39) N344K probably benign Het
Vmn2r25 C G 6: 123,802,277 (GRCm39) C542S probably damaging Het
Wiz T A 17: 32,597,470 (GRCm39) probably benign Het
Wrap73 A G 4: 154,239,803 (GRCm39) Y343C 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
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
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'- TGCATAAATTGGACAGGGAGCTC -3'
(R):5'- TGTGTGCAGAGAGAACGCAC -3'

Sequencing Primer
(F):5'- CTGTCAGCCTGTTGTCAGCTAG -3'
(R):5'- CACACCTTGTCTAGTGAGAGATCG -3'
Posted On 2017-08-17