Incidental Mutation 'R4247:Lmtk3'
ID 320466
Institutional Source Beutler Lab
Gene Symbol Lmtk3
Ensembl Gene ENSMUSG00000062044
Gene Name lemur tyrosine kinase 3
Synonyms AATYK3, Aatyk3
MMRRC Submission 041063-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.554) question?
Stock # R4247 (G1)
Quality Score 171
Status 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 98% (41/42)
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
Adam22 T C 5: 8,195,626 (GRCm39) I305V probably benign Het
Aga T A 8: 53,964,865 (GRCm39) L9Q possibly damaging Het
Akna C T 4: 63,313,409 (GRCm39) G238D probably benign Het
Arhgap23 G A 11: 97,354,525 (GRCm39) E813K probably damaging Het
Atp13a2 T C 4: 140,719,539 (GRCm39) probably null Het
Atp8a1 C T 5: 67,824,917 (GRCm39) G820S probably damaging Het
Ccdc97 T G 7: 25,415,459 (GRCm39) H68P possibly damaging Het
Dclre1b A C 3: 103,711,400 (GRCm39) probably null Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fubp1 G A 3: 151,937,573 (GRCm39) A103T possibly damaging Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Gtf3c5 T C 2: 28,461,196 (GRCm39) D306G probably damaging Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Hsdl2 A T 4: 59,594,417 (GRCm39) N16I probably damaging Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Kif27 A G 13: 58,435,731 (GRCm39) V1354A probably damaging Het
Kif9 G T 9: 110,325,027 (GRCm39) probably null Het
Lrrc24 A G 15: 76,602,176 (GRCm39) I193T possibly damaging Het
Or2bd2 A G 7: 6,441,901 (GRCm39) probably benign Het
Or52b1 T C 7: 104,979,355 (GRCm39) I15V probably benign Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Pramel52-ps A G 5: 94,531,446 (GRCm39) D110G possibly damaging Het
Ranbp2 A G 10: 58,314,686 (GRCm39) D1802G possibly damaging Het
Resf1 T A 6: 149,227,041 (GRCm39) M29K possibly damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Scn11a C T 9: 119,636,952 (GRCm39) V250M probably damaging Het
Slitrk1 A G 14: 109,149,994 (GRCm39) V239A possibly damaging Het
Slitrk6 T A 14: 110,988,171 (GRCm39) D512V probably damaging Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Tamalin G T 15: 101,122,418 (GRCm39) R79L possibly damaging Het
Trp73 A G 4: 154,149,089 (GRCm39) probably null Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Upp1 T C 11: 9,084,815 (GRCm39) I178T probably benign Het
Vmn2r73 A T 7: 85,521,883 (GRCm39) L152Q probably damaging Het
Vmn2r97 T C 17: 19,167,542 (GRCm39) S599P possibly damaging Het
Wrnip1 T C 13: 32,990,866 (GRCm39) L375P probably damaging Het
Zfp945 C T 17: 23,069,583 (GRCm39) G793D probably damaging Het
Zfyve9 C A 4: 108,576,389 (GRCm39) A231S 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
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'- CAGCGAGTACTATATCCGCC -3'
(R):5'- AAAAGGGGTCTCGGTCTCGTAG -3'

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