Incidental Mutation 'R7993:Lrrk1'
ID 651866
Institutional Source Beutler Lab
Gene Symbol Lrrk1
Ensembl Gene ENSMUSG00000015133
Gene Name leucine-rich repeat kinase 1
Synonyms D130026O16Rik, C230002E15Rik
MMRRC Submission 046034-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7993 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 65908493-66038089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65912202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1786 (T1786M)
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: T1786M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000015277
Gene: ENSMUSG00000015133
AA Change: T1786M

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: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,803,231 (GRCm39) V689D possibly damaging Het
Adamts17 T C 7: 66,499,612 (GRCm39) V53A possibly damaging Het
Adcy9 T C 16: 4,235,866 (GRCm39) N515S probably damaging Het
Aoc1l3 T A 6: 48,964,542 (GRCm39) N183K possibly damaging Het
Atp1a2 A G 1: 172,118,878 (GRCm39) V88A possibly damaging Het
Atp1a3 T C 7: 24,700,406 (GRCm39) probably null Het
Baz2a T C 10: 127,961,491 (GRCm39) F1706L probably benign Het
Cacnb2 A C 2: 14,968,731 (GRCm39) N199T probably benign Het
Caskin1 T A 17: 24,718,279 (GRCm39) Y296* probably null Het
Cemip C A 7: 83,613,383 (GRCm39) G605V probably damaging Het
Ciart T A 3: 95,786,206 (GRCm39) K290* probably null Het
Cideb G T 14: 55,995,899 (GRCm39) probably benign Het
Copg2 A T 6: 30,793,097 (GRCm39) Y413N probably damaging Het
Csrp1 T A 1: 135,674,453 (GRCm39) probably null Het
Cyp2j8 C T 4: 96,335,456 (GRCm39) probably null Het
Dcbld1 T A 10: 52,137,884 (GRCm39) Y49* probably null Het
Dpep1 T C 8: 123,927,460 (GRCm39) V338A possibly damaging Het
Exoc2 A G 13: 31,090,713 (GRCm39) probably null Het
Fcho2 A T 13: 98,888,524 (GRCm39) probably null Het
Foxd3 C T 4: 99,544,841 (GRCm39) probably benign Het
Gabbr2 C T 4: 46,736,349 (GRCm39) probably null Het
Gipc3 T C 10: 81,173,805 (GRCm39) D269G probably damaging Het
Gm4861 G A 3: 137,256,417 (GRCm39) T63M probably damaging Het
Hmga1b C A 11: 120,653,833 (GRCm39) A40E probably damaging Het
Hydin T A 8: 111,306,264 (GRCm39) M3889K probably benign Het
Inhca T A 9: 103,140,332 (GRCm39) K462N probably benign Het
Klk14 T A 7: 43,344,367 (GRCm39) M226K probably benign Het
Liph T G 16: 21,777,562 (GRCm39) M413L probably benign Het
Lrrc37a T C 11: 103,348,787 (GRCm39) D2636G unknown Het
Map1a A G 2: 121,135,057 (GRCm39) S1958G possibly damaging Het
Msto1 A G 3: 88,817,481 (GRCm39) F484S probably benign Het
Muc2 C T 7: 141,308,173 (GRCm39) H890Y Het
Nectin3 T C 16: 46,279,184 (GRCm39) I265V probably benign Het
Nectin4 C T 1: 171,211,322 (GRCm39) T282I probably damaging Het
Nfat5 T A 8: 108,082,134 (GRCm39) probably null Het
Nsmaf T C 4: 6,398,647 (GRCm39) D819G probably benign Het
Or8b8 A T 9: 37,808,633 (GRCm39) probably benign Het
Pcdhb1 A T 18: 37,400,044 (GRCm39) D665V probably damaging Het
Pkd1l1 T C 11: 8,895,262 (GRCm39) D616G Het
Plppr2 A T 9: 21,858,258 (GRCm39) H286L probably damaging Het
Polrmt T C 10: 79,572,085 (GRCm39) T1203A probably damaging Het
Ppm1d T A 11: 85,217,777 (GRCm39) V180E probably damaging Het
Ppp1r18 T A 17: 36,184,718 (GRCm39) I551N probably benign Het
Psg28 C T 7: 18,160,401 (GRCm39) C265Y possibly damaging Het
Psmc1 A G 12: 100,081,824 (GRCm39) D142G probably benign Het
Rabgap1l G T 1: 160,528,424 (GRCm39) A394E probably damaging Het
Rbm48 G A 5: 3,640,470 (GRCm39) P303L probably benign Het
Rnf167 T C 11: 70,540,821 (GRCm39) V185A probably benign Het
Ros1 T A 10: 51,999,443 (GRCm39) Q1169L probably benign Het
Rrp1b A G 17: 32,277,541 (GRCm39) D607G probably damaging Het
Scamp1 A G 13: 94,366,294 (GRCm39) Y134H probably damaging Het
Scfd1 G A 12: 51,492,490 (GRCm39) E600K probably damaging Het
Scn3b A G 9: 40,193,840 (GRCm39) E189G possibly damaging Het
Scn4b G T 9: 45,059,007 (GRCm39) V93L probably benign Het
Serpina3i A T 12: 104,231,407 (GRCm39) T15S possibly damaging Het
Slc2a13 A T 15: 91,296,356 (GRCm39) C319* probably null Het
Tdrd1 A G 19: 56,854,437 (GRCm39) probably null Het
Tep1 T A 14: 51,067,710 (GRCm39) I2169F probably benign Het
Tm4sf19 A G 16: 32,226,458 (GRCm39) D124G possibly damaging Het
Trim2 T C 3: 84,098,026 (GRCm39) Y434C probably damaging Het
Usp34 T A 11: 23,327,622 (GRCm39) S1056T Het
Vmn1r230 T A 17: 21,067,312 (GRCm39) M167K probably benign Het
Vmn2r14 T A 5: 109,363,862 (GRCm39) M685L probably benign Het
Zfhx4 T A 3: 5,478,047 (GRCm39) V3554D probably damaging Het
Zfp1010 C T 2: 176,957,015 (GRCm39) G161D probably damaging Het
Zfp458 A G 13: 67,405,234 (GRCm39) S402P probably damaging Het
Zfp462 C A 4: 55,011,907 (GRCm39) A1291E probably damaging Het
Zmat5 G A 11: 4,672,379 (GRCm39) probably benign Het
Znfx1 C A 2: 166,897,857 (GRCm39) E356* probably null Het
Zswim5 A G 4: 116,808,291 (GRCm39) T292A 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
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
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'- CACTGGAATAGCTGGTGAGG -3'
(R):5'- ACTGCACCATCCTGGACATC -3'

Sequencing Primer
(F):5'- ATAGCTGGTGAGGGAGCTG -3'
(R):5'- ATCCTGGACATCAGCAGGC -3'
Posted On 2020-09-15