Incidental Mutation 'R5295:Lmtk3'
ID 405357
Institutional Source Beutler Lab
Gene Symbol Lmtk3
Ensembl Gene ENSMUSG00000062044
Gene Name lemur tyrosine kinase 3
Synonyms AATYK3, Aatyk3
MMRRC Submission 042878-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.554) question?
Stock # R5295 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45433162-45453568 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45440722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 243 (D243N)
Ref Sequence ENSEMBL: ENSMUSP00000148041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072580] [ENSMUST00000120005] [ENSMUST00000209617] [ENSMUST00000209701] [ENSMUST00000211609]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000072580
AA Change: D217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: D217N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
Pfam:Pkinase 133 408 8.3e-37 PFAM
Pfam:Pkinase_Tyr 133 408 4.9e-64 PFAM
low complexity region 415 444 N/A INTRINSIC
low complexity region 484 506 N/A INTRINSIC
low complexity region 599 609 N/A INTRINSIC
low complexity region 639 669 N/A INTRINSIC
low complexity region 735 791 N/A INTRINSIC
low complexity region 797 843 N/A INTRINSIC
low complexity region 1081 1105 N/A INTRINSIC
low complexity region 1116 1132 N/A INTRINSIC
low complexity region 1196 1223 N/A INTRINSIC
low complexity region 1225 1263 N/A INTRINSIC
low complexity region 1345 1362 N/A INTRINSIC
low complexity region 1384 1393 N/A INTRINSIC
low complexity region 1407 1421 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118564
AA Change: D243N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113323
Gene: ENSMUSG00000062044
AA Change: D243N

DomainStartEndE-ValueType
transmembrane domain 27 49 N/A INTRINSIC
transmembrane domain 61 83 N/A INTRINSIC
Pfam:Pkinase_Tyr 159 434 4.2e-64 PFAM
Pfam:Pkinase 159 436 1.3e-33 PFAM
low complexity region 441 470 N/A INTRINSIC
low complexity region 510 532 N/A INTRINSIC
low complexity region 625 635 N/A INTRINSIC
low complexity region 665 695 N/A INTRINSIC
low complexity region 761 817 N/A INTRINSIC
low complexity region 823 869 N/A INTRINSIC
low complexity region 1107 1131 N/A INTRINSIC
low complexity region 1142 1158 N/A INTRINSIC
low complexity region 1222 1249 N/A INTRINSIC
low complexity region 1251 1289 N/A INTRINSIC
low complexity region 1371 1388 N/A INTRINSIC
low complexity region 1410 1419 N/A INTRINSIC
low complexity region 1433 1447 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120005
AA Change: D217N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: D217N

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
Pfam:Pkinase 133 408 8.3e-37 PFAM
Pfam:Pkinase_Tyr 133 408 4.9e-64 PFAM
low complexity region 415 444 N/A INTRINSIC
low complexity region 484 506 N/A INTRINSIC
low complexity region 599 609 N/A INTRINSIC
low complexity region 639 669 N/A INTRINSIC
low complexity region 735 791 N/A INTRINSIC
low complexity region 797 843 N/A INTRINSIC
low complexity region 1081 1105 N/A INTRINSIC
low complexity region 1116 1132 N/A INTRINSIC
low complexity region 1196 1223 N/A INTRINSIC
low complexity region 1225 1263 N/A INTRINSIC
low complexity region 1345 1362 N/A INTRINSIC
low complexity region 1384 1393 N/A INTRINSIC
low complexity region 1407 1421 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209351
Predicted Effect probably damaging
Transcript: ENSMUST00000209617
AA Change: D243N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209701
Predicted Effect probably benign
Transcript: ENSMUST00000211609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211309
Predicted Effect probably benign
Transcript: ENSMUST00000211127
Meta Mutation Damage Score 0.1573 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit pronounced behavioral abnormalities, including locomotor hyperactivity, reduced anxiety, and decreased depression-like behavior, an increased striatal dopamine turnover rate, and enhanced behavioral response to methylphenidate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C T 18: 65,438,109 (GRCm39) E1095K probably damaging Het
Alpl T C 4: 137,476,919 (GRCm39) T245A probably benign Het
Ank2 T C 3: 126,825,832 (GRCm39) H378R probably damaging Het
Arhgef1 G A 7: 24,618,777 (GRCm39) probably null Het
Atp5f1c T C 2: 10,073,544 (GRCm39) R10G possibly damaging Het
Cbln3 T C 14: 56,120,920 (GRCm39) probably null Het
Ccr10 C T 11: 101,065,111 (GRCm39) V140M possibly damaging Het
Cep135 T A 5: 76,741,051 (GRCm39) H42Q possibly damaging Het
Commd5 C A 15: 76,785,152 (GRCm39) T183K possibly damaging Het
Dnajc16 T C 4: 141,495,239 (GRCm39) E493G possibly damaging Het
Ears2 T C 7: 121,647,421 (GRCm39) R288G probably damaging Het
Elovl4 G A 9: 83,662,714 (GRCm39) P273L possibly damaging Het
Fam186b T A 15: 99,181,755 (GRCm39) I148F probably damaging Het
Fryl T C 5: 73,270,134 (GRCm39) Y79C probably damaging Het
Gad1-ps A G 10: 99,280,751 (GRCm39) noncoding transcript Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Ighv1-77 T A 12: 115,825,528 (GRCm39) S104C probably damaging Het
Kcnv1 T C 15: 44,977,987 (GRCm39) D17G unknown Het
Lrrc7 T A 3: 157,876,376 (GRCm39) K571N probably damaging Het
Lsm7 T C 10: 80,690,454 (GRCm39) E32G probably damaging Het
Ly6f A G 15: 75,143,488 (GRCm39) Q65R probably benign Het
Perm1 T C 4: 156,301,975 (GRCm39) L173P probably benign Het
Plvap T C 8: 71,964,314 (GRCm39) Q16R probably benign Het
Prb1c T G 6: 132,338,840 (GRCm39) Q126P unknown Het
Prl7d1 A T 13: 27,893,230 (GRCm39) V227D probably damaging Het
Prss54 T C 8: 96,291,106 (GRCm39) T165A probably damaging Het
Psrc1 A G 3: 108,293,675 (GRCm39) I195V probably benign Het
Rnf123 AT ATT 9: 107,941,202 (GRCm39) probably null Het
Rnf213 A T 11: 119,331,642 (GRCm39) T2284S probably benign Het
Serpina3c T C 12: 104,114,637 (GRCm39) E333G probably damaging Het
Serpinb6c A G 13: 34,077,800 (GRCm39) F190S probably damaging Het
Sfmbt1 G A 14: 30,495,986 (GRCm39) D90N probably damaging Het
Tdh T C 14: 63,733,558 (GRCm39) Y110C probably damaging Het
Tdrd9 T A 12: 112,018,346 (GRCm39) L1255* probably null Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zbtb2 T C 10: 4,318,508 (GRCm39) K506R probably damaging Het
Zmiz1 T C 14: 25,656,771 (GRCm39) L800P probably damaging Het
Znhit6 A G 3: 145,306,248 (GRCm39) D251G probably benign Het
Other mutations in Lmtk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Lmtk3 APN 7 45,440,331 (GRCm39) missense probably damaging 1.00
IGL01996:Lmtk3 APN 7 45,442,871 (GRCm39) splice site probably null
IGL02146:Lmtk3 APN 7 45,444,371 (GRCm39) unclassified probably benign
IGL02192:Lmtk3 APN 7 45,443,933 (GRCm39) unclassified probably benign
IGL02598:Lmtk3 APN 7 45,442,564 (GRCm39) missense probably damaging 1.00
BB006:Lmtk3 UTSW 7 45,444,572 (GRCm39) missense unknown
BB016:Lmtk3 UTSW 7 45,444,572 (GRCm39) missense unknown
R0469:Lmtk3 UTSW 7 45,443,536 (GRCm39) missense possibly damaging 0.95
R0510:Lmtk3 UTSW 7 45,443,536 (GRCm39) missense possibly damaging 0.95
R0603:Lmtk3 UTSW 7 45,444,980 (GRCm39) unclassified probably benign
R0781:Lmtk3 UTSW 7 45,444,427 (GRCm39) unclassified probably benign
R1110:Lmtk3 UTSW 7 45,444,427 (GRCm39) unclassified probably benign
R1270:Lmtk3 UTSW 7 45,443,252 (GRCm39) missense probably damaging 0.96
R1535:Lmtk3 UTSW 7 45,443,994 (GRCm39) unclassified probably benign
R1666:Lmtk3 UTSW 7 45,443,588 (GRCm39) missense probably benign 0.03
R1807:Lmtk3 UTSW 7 45,442,702 (GRCm39) missense probably benign 0.02
R1883:Lmtk3 UTSW 7 45,436,273 (GRCm39) missense probably damaging 1.00
R2060:Lmtk3 UTSW 7 45,450,335 (GRCm39) critical splice acceptor site probably null
R2107:Lmtk3 UTSW 7 45,443,393 (GRCm39) missense possibly damaging 0.56
R2214:Lmtk3 UTSW 7 45,444,277 (GRCm39) unclassified probably benign
R2369:Lmtk3 UTSW 7 45,444,512 (GRCm39) unclassified probably benign
R4084:Lmtk3 UTSW 7 45,442,716 (GRCm39) missense probably damaging 0.97
R4246:Lmtk3 UTSW 7 45,443,486 (GRCm39) missense possibly damaging 0.75
R4247:Lmtk3 UTSW 7 45,443,486 (GRCm39) missense possibly damaging 0.75
R4249:Lmtk3 UTSW 7 45,443,486 (GRCm39) missense possibly damaging 0.75
R4250:Lmtk3 UTSW 7 45,443,486 (GRCm39) missense possibly damaging 0.75
R4587:Lmtk3 UTSW 7 45,443,504 (GRCm39) missense possibly damaging 0.92
R5026:Lmtk3 UTSW 7 45,443,836 (GRCm39) unclassified probably benign
R5275:Lmtk3 UTSW 7 45,440,722 (GRCm39) missense probably damaging 1.00
R5624:Lmtk3 UTSW 7 45,436,286 (GRCm39) missense probably damaging 0.96
R5688:Lmtk3 UTSW 7 45,440,834 (GRCm39) missense probably damaging 1.00
R6478:Lmtk3 UTSW 7 45,448,013 (GRCm39) missense unknown
R6737:Lmtk3 UTSW 7 45,443,051 (GRCm39) missense probably damaging 0.99
R6800:Lmtk3 UTSW 7 45,443,233 (GRCm39) missense possibly damaging 0.91
R6856:Lmtk3 UTSW 7 45,443,721 (GRCm39) unclassified probably benign
R7319:Lmtk3 UTSW 7 45,443,740 (GRCm39) missense unknown
R7335:Lmtk3 UTSW 7 45,444,581 (GRCm39) missense unknown
R7353:Lmtk3 UTSW 7 45,437,424 (GRCm39) missense possibly damaging 0.46
R7621:Lmtk3 UTSW 7 45,442,841 (GRCm39) missense probably damaging 1.00
R7699:Lmtk3 UTSW 7 45,441,998 (GRCm39) missense probably damaging 1.00
R7700:Lmtk3 UTSW 7 45,441,998 (GRCm39) missense probably damaging 1.00
R7836:Lmtk3 UTSW 7 45,436,327 (GRCm39) missense possibly damaging 0.89
R7929:Lmtk3 UTSW 7 45,444,572 (GRCm39) missense unknown
R7951:Lmtk3 UTSW 7 45,435,030 (GRCm39) missense probably benign 0.01
R7976:Lmtk3 UTSW 7 45,444,890 (GRCm39) missense unknown
R8128:Lmtk3 UTSW 7 45,443,598 (GRCm39) missense
R8678:Lmtk3 UTSW 7 45,435,975 (GRCm39) nonsense probably null
R8732:Lmtk3 UTSW 7 45,447,712 (GRCm39) missense unknown
R9335:Lmtk3 UTSW 7 45,442,165 (GRCm39) missense probably damaging 1.00
R9356:Lmtk3 UTSW 7 45,443,312 (GRCm39) missense probably damaging 0.96
R9432:Lmtk3 UTSW 7 45,441,994 (GRCm39) missense probably damaging 1.00
R9645:Lmtk3 UTSW 7 45,450,431 (GRCm39) missense unknown
X0052:Lmtk3 UTSW 7 45,442,922 (GRCm39) missense probably benign 0.03
X0067:Lmtk3 UTSW 7 45,444,104 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTGAATCCCGGGCATCATGC -3'
(R):5'- TAGAGTCAGTCCCTGCTTGC -3'

Sequencing Primer
(F):5'- CATGTGTGGTAGGCATCCGAC -3'
(R):5'- AGTCCCTGCTTGCTCAGTTC -3'
Posted On 2016-07-22