Incidental Mutation 'R4246:Lmtk3'
ID 320426
Institutional Source Beutler Lab
Gene Symbol Lmtk3
Ensembl Gene ENSMUSG00000062044
Gene Name lemur tyrosine kinase 3
Synonyms AATYK3, Aatyk3
MMRRC Submission 041062-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.554) question?
Stock # R4246 (G1)
Quality Score 206
Status Not validated
Chromosome 7
Chromosomal Location 45433162-45453568 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45443486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 723 (C723Y)
Ref Sequence ENSEMBL: ENSMUSP00000148041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072580] [ENSMUST00000120005] [ENSMUST00000209617] [ENSMUST00000209701]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000072580
AA Change: C697Y

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: C697Y

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 possibly damaging
Transcript: ENSMUST00000118564
AA Change: C723Y

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113323
Gene: ENSMUSG00000062044
AA Change: C723Y

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 possibly damaging
Transcript: ENSMUST00000120005
AA Change: C697Y

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: C697Y

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 possibly damaging
Transcript: ENSMUST00000209617
AA Change: C723Y

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000209701
Predicted Effect probably benign
Transcript: ENSMUST00000211127
Meta Mutation Damage Score 0.0588 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Ak1 A G 2: 32,523,384 (GRCm39) T151A possibly damaging Het
Asxl3 A G 18: 22,658,557 (GRCm39) D2189G probably damaging Het
Ccdc91 C T 6: 147,493,646 (GRCm39) A346V unknown Het
Dnah6 C T 6: 73,106,431 (GRCm39) E1769K probably benign Het
Dock6 A T 9: 21,750,786 (GRCm39) probably null Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Glyatl3 T A 17: 41,220,989 (GRCm39) D126V probably benign Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Igkv8-21 T A 6: 70,292,436 (GRCm39) M1L possibly damaging Het
Itih4 C A 14: 30,613,359 (GRCm39) H261N probably damaging Het
Jpt1 T C 11: 115,405,119 (GRCm39) probably benign Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Klhl32 A C 4: 24,800,822 (GRCm39) S3A possibly damaging Het
Kmt2d C T 15: 98,737,970 (GRCm39) probably benign Het
Lamtor5 T C 3: 107,186,354 (GRCm39) V41A probably benign Het
Lrfn1 G T 7: 28,159,367 (GRCm39) V429L probably benign Het
Mapkbp1 T A 2: 119,843,508 (GRCm39) I252N probably damaging Het
Nelfa A G 5: 34,056,373 (GRCm39) F464S probably damaging Het
Nipbl G A 15: 8,361,916 (GRCm39) L1454F probably damaging Het
Nr4a3 C T 4: 48,083,125 (GRCm39) P553S possibly damaging Het
Nrg3 G A 14: 39,194,198 (GRCm39) T187I possibly damaging Het
Or5m5 T A 2: 85,814,624 (GRCm39) C147S possibly damaging Het
Or8g36 A G 9: 39,422,899 (GRCm39) V39A probably benign Het
Pcdha8 A G 18: 37,125,950 (GRCm39) E144G probably damaging Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pira1 C T 7: 3,740,348 (GRCm39) G291E probably damaging Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Ppp1r3a T A 6: 14,719,780 (GRCm39) E378V probably damaging Het
Psd2 T C 18: 36,139,172 (GRCm39) L540P probably damaging Het
Rnf14 T A 18: 38,434,701 (GRCm39) probably null Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sh3d19 G A 3: 86,033,995 (GRCm39) V783I probably benign Het
Snca T C 6: 60,710,149 (GRCm39) E110G possibly damaging Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Trhr A T 15: 44,096,856 (GRCm39) probably null Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Tuft1 C A 3: 94,522,108 (GRCm39) M319I probably benign Het
Vill C A 9: 118,889,461 (GRCm39) N132K probably damaging Het
Wars2 T A 3: 99,123,904 (GRCm39) V255E probably damaging Het
Zcchc14 CTGATGGTGGTGGTGATGGTGGTGG CTGATGGTGGTGG 8: 122,331,031 (GRCm39) 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
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
R5295: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'- AGCGAGTACTATATCCGCCTG -3'
(R):5'- AAAAGGGGTCTCGGTCTCGTAG -3'

Sequencing Primer
(F):5'- AGATCCTGCCGAGGTGCTTG -3'
(R):5'- GTCTCGTAGCCGCTGTC -3'
Posted On 2015-06-12