Incidental Mutation 'R1883:Lmtk3'
ID 209262
Institutional Source Beutler Lab
Gene Symbol Lmtk3
Ensembl Gene ENSMUSG00000062044
Gene Name lemur tyrosine kinase 3
Synonyms AATYK3, Aatyk3
MMRRC Submission 039904-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.554) question?
Stock # R1883 (G1)
Quality Score 168
Status Not validated
Chromosome 7
Chromosomal Location 45433162-45453568 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45436273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 84 (Y84H)
Ref Sequence ENSEMBL: ENSMUSP00000148070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072580] [ENSMUST00000120005] [ENSMUST00000209617] [ENSMUST00000209701] [ENSMUST00000211609] [ENSMUST00000209739]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000072580
AA Change: Y84H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: Y84H

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: Y110H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113323
Gene: ENSMUSG00000062044
AA Change: Y110H

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: Y84H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: Y84H

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 unknown
Transcript: ENSMUST00000209351
AA Change: Y23H
Predicted Effect probably damaging
Transcript: ENSMUST00000209617
AA Change: Y110H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000209701
AA Change: Y84H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000211609
AA Change: Y84H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211309
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210021
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211779
Predicted Effect probably benign
Transcript: ENSMUST00000209739
Predicted Effect probably benign
Transcript: ENSMUST00000211127
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 T C 7: 140,682,244 (GRCm39) E677G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bhmt1b T C 18: 87,774,669 (GRCm39) L64P probably damaging Het
Brs3 T C X: 56,092,449 (GRCm39) I311T probably benign Het
Capn9 A G 8: 125,338,297 (GRCm39) K552R probably benign Het
Catsperg1 C T 7: 28,881,661 (GRCm39) probably null Het
Cdc16 A G 8: 13,825,738 (GRCm39) N449D probably damaging Het
Cdyl2 A T 8: 117,321,902 (GRCm39) N208K probably damaging Het
Cnot4 C T 6: 35,055,092 (GRCm39) V66I probably damaging Het
Cntn4 A G 6: 106,656,353 (GRCm39) T885A probably benign Het
Col20a1 C T 2: 180,634,703 (GRCm39) T131I possibly damaging Het
Crybg2 C A 4: 133,801,594 (GRCm39) S918* probably null Het
Dact2 A T 17: 14,418,085 (GRCm39) S207T possibly damaging Het
Dbnl G A 11: 5,749,247 (GRCm39) G356E probably benign Het
Ddx18 C A 1: 121,495,645 (GRCm39) probably benign Het
Dis3 A T 14: 99,328,905 (GRCm39) H282Q probably benign Het
Dnah3 T C 7: 119,677,142 (GRCm39) D453G probably benign Het
Dst T C 1: 34,228,389 (GRCm39) V1994A possibly damaging Het
Dusp8 C T 7: 141,638,085 (GRCm39) probably null Het
Eipr1 A T 12: 28,816,850 (GRCm39) H69L possibly damaging Het
Eml1 A G 12: 108,429,911 (GRCm39) R65G probably damaging Het
Epha7 C T 4: 28,950,362 (GRCm39) H722Y possibly damaging Het
Epyc A T 10: 97,511,695 (GRCm39) K229N possibly damaging Het
Extl1 A G 4: 134,091,917 (GRCm39) I312T probably benign Het
F13a1 G C 13: 37,172,981 (GRCm39) A133G probably benign Het
Fam185a G T 5: 21,630,242 (GRCm39) C26F possibly damaging Het
Fam186b T C 15: 99,176,679 (GRCm39) N737S probably damaging Het
Fam78b A G 1: 166,829,171 (GRCm39) I13V probably benign Het
Fat1 A T 8: 45,504,184 (GRCm39) Q4559L probably benign Het
Fnip1 T C 11: 54,406,373 (GRCm39) S1157P probably damaging Het
Foxj3 A C 4: 119,467,226 (GRCm39) M190L probably benign Het
Heatr3 T C 8: 88,871,221 (GRCm39) Y192H possibly damaging Het
Hexd T A 11: 121,098,524 (GRCm39) S3T probably benign Het
Klf3 C T 5: 64,980,224 (GRCm39) P5S probably damaging Het
Klf9 C T 19: 23,142,101 (GRCm39) S187L probably damaging Het
Krt9 T C 11: 100,079,523 (GRCm39) H623R unknown Het
Krtap2-4 G C 11: 99,505,505 (GRCm39) probably benign Het
Mroh3 G T 1: 136,134,731 (GRCm39) A166D probably damaging Het
Musk C A 4: 58,373,189 (GRCm39) P697T probably benign Het
Nek9 A G 12: 85,379,330 (GRCm39) L192P probably damaging Het
Nipbl A C 15: 8,356,616 (GRCm39) F1590C probably damaging Het
Nrk G T X: 137,907,922 (GRCm39) V1455F probably damaging Het
Nsun3 T C 16: 62,555,656 (GRCm39) D290G probably damaging Het
Obscn T C 11: 58,969,029 (GRCm39) T222A probably damaging Het
Or2a12 T C 6: 42,904,764 (GRCm39) S200P probably damaging Het
Or51f1d T C 7: 102,701,189 (GRCm39) I228T probably benign Het
Or6b9 T C 7: 106,555,981 (GRCm39) H54R probably benign Het
Osbpl11 T G 16: 33,034,723 (GRCm39) H237Q probably benign Het
Pde10a A T 17: 9,197,776 (GRCm39) T671S possibly damaging Het
Pkd2 A T 5: 104,631,094 (GRCm39) N506I probably damaging Het
Ppp3cb A G 14: 20,573,913 (GRCm39) V274A possibly damaging Het
Prex1 T C 2: 166,425,192 (GRCm39) D938G probably benign Het
Ptch1 G A 13: 63,659,841 (GRCm39) Q1134* probably null Het
Rasgrf2 A G 13: 92,117,149 (GRCm39) V820A probably benign Het
Rimbp2 C T 5: 128,880,998 (GRCm39) V137M possibly damaging Het
Rpa1 A G 11: 75,209,309 (GRCm39) V137A probably benign Het
Rps6ka1 A C 4: 133,591,354 (GRCm39) I299S probably damaging Het
Scn3b A C 9: 40,190,669 (GRCm39) probably null Het
Sdha A T 13: 74,481,255 (GRCm39) I317N probably damaging Het
Serpina1d T A 12: 103,732,037 (GRCm39) D274V possibly damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Snx14 T A 9: 88,284,314 (GRCm39) E451D probably benign Het
Spmip4 T C 6: 50,551,433 (GRCm39) T339A probably benign Het
Swt1 T A 1: 151,299,284 (GRCm39) K8* probably null Het
Tas1r3 G T 4: 155,946,610 (GRCm39) P332T probably damaging Het
Tas2r126 A T 6: 42,411,961 (GRCm39) T165S probably benign Het
Tecpr1 A G 5: 144,143,347 (GRCm39) V676A probably benign Het
Tg A G 15: 66,543,158 (GRCm39) E24G probably damaging Het
Tlr7 C T X: 166,089,468 (GRCm39) G673S probably benign Het
Tnxb T A 17: 34,908,539 (GRCm39) D1520E probably benign Het
Trabd A G 15: 88,966,184 (GRCm39) E47G probably damaging Het
Trim29 T A 9: 43,222,702 (GRCm39) I177N probably damaging Het
Ubxn2a A T 12: 4,944,563 (GRCm39) L53* probably null Het
Ulk2 A G 11: 61,721,438 (GRCm39) L208P probably damaging Het
Unc80 G A 1: 66,564,929 (GRCm39) C872Y possibly damaging Het
Vac14 A G 8: 111,438,319 (GRCm39) H644R probably damaging Het
Vmn1r20 C A 6: 57,409,306 (GRCm39) H211N probably benign Het
Vmn1r31 C T 6: 58,449,029 (GRCm39) V279I probably damaging Het
Vmn2r18 G T 5: 151,499,190 (GRCm39) Q425K probably benign Het
Vmn2r60 T C 7: 41,786,094 (GRCm39) V299A probably damaging Het
Vps54 A T 11: 21,262,967 (GRCm39) T685S possibly damaging Het
Vwa5b1 A G 4: 138,302,700 (GRCm39) W932R probably damaging Het
Wdr53 A T 16: 32,075,316 (GRCm39) I174F possibly damaging Het
Zfp157 A G 5: 138,443,102 (GRCm39) D31G probably damaging Het
Zfp60 T C 7: 27,449,435 (GRCm39) L701P probably benign Het
Zfp609 A T 9: 65,702,040 (GRCm39) M204K probably benign Het
Zfp831 A G 2: 174,545,870 (GRCm39) H1325R possibly damaging Het
Zfp995 A T 17: 22,099,622 (GRCm39) I204N probably benign Het
Zp2 C T 7: 119,732,624 (GRCm39) D641N 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
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
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'- TTTGGGATGCGCACACTAGC -3'
(R):5'- TTACTTCCACGAATCTAGGGCTC -3'

Sequencing Primer
(F):5'- CACACTAGCGGAAATTGGGCTG -3'
(R):5'- ACGAATCTAGGGCTCTGCATTCTG -3'
Posted On 2014-06-30