Incidental Mutation 'R4249:Lmtk3'
ID 320533
Institutional Source Beutler Lab
Gene Symbol Lmtk3
Ensembl Gene ENSMUSG00000062044
Gene Name lemur tyrosine kinase 3
Synonyms AATYK3, Aatyk3
MMRRC Submission 041065-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.554) question?
Stock # R4249 (G1)
Quality Score 160
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: 95.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Ankrd39 A G 1: 36,586,236 (GRCm39) S11P probably benign Het
Aox1 A G 1: 58,338,978 (GRCm39) S324G probably benign Het
Atl3 T C 19: 7,509,703 (GRCm39) V477A probably benign Het
Bcar1 T C 8: 112,447,525 (GRCm39) T151A probably benign Het
Cdc42bpg A G 19: 6,365,296 (GRCm39) T718A possibly damaging Het
Col9a1 C T 1: 24,283,462 (GRCm39) R843C probably damaging Het
Dnah12 T A 14: 26,430,341 (GRCm39) D316E possibly damaging Het
Fat2 A G 11: 55,175,127 (GRCm39) V1862A probably damaging Het
Fbxw5 C A 2: 25,393,472 (GRCm39) N233K probably damaging Het
Fcer2a A G 8: 3,738,831 (GRCm39) F75L probably benign Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Gimd1 T C 3: 132,350,169 (GRCm39) V144A possibly damaging Het
Glt1d1 T C 5: 127,768,176 (GRCm39) probably null Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Kansl1l C T 1: 66,812,637 (GRCm39) D459N probably damaging Het
Muc4 T C 16: 32,576,200 (GRCm39) probably benign Het
Myom1 T A 17: 71,399,135 (GRCm39) V999E probably damaging Het
Nckap5 A G 1: 125,955,376 (GRCm39) L460P probably benign Het
Or12d17 T C 17: 37,777,715 (GRCm39) M206T probably damaging Het
Phf13 A T 4: 152,076,552 (GRCm39) N213K probably damaging Het
Phldb3 T C 7: 24,326,745 (GRCm39) I591T probably damaging Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Plekhh2 A G 17: 84,893,765 (GRCm39) E860G possibly damaging Het
Resf1 T A 6: 149,227,041 (GRCm39) M29K possibly damaging Het
Rest A G 5: 77,429,959 (GRCm39) T793A probably benign Het
Ropn1 C T 16: 34,498,826 (GRCm39) Q205* probably null Het
Sacs A C 14: 61,440,906 (GRCm39) K984T probably benign Het
Samd11 G A 4: 156,334,943 (GRCm39) R102C probably damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Shank1 C A 7: 43,969,160 (GRCm39) H352N unknown Het
Slc22a27 A T 19: 7,903,244 (GRCm39) I162K possibly 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
Tln1 A T 4: 43,536,104 (GRCm39) V2027E probably damaging Het
Trdn A G 10: 33,326,994 (GRCm39) I594M probably benign Het
Trim5 C G 7: 103,926,022 (GRCm39) E180Q possibly damaging Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Tubb1 A T 2: 174,297,526 (GRCm39) E45V probably null Het
Vmn2r67 T A 7: 84,799,722 (GRCm39) probably null Het
Zcchc14 CTGATGGTGGTGGTGATGGTGGTGG CTGATGGTGGTGG 8: 122,331,031 (GRCm39) probably benign Het
Zfp160 T A 17: 21,246,000 (GRCm39) F183L 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
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'- AGCAGCGAGTACTATATCCGC -3'
(R):5'- AAAAGGGGTCTCGGTCTCGTAG -3'

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