Incidental Mutation 'R1434:Lmtk2'
ID 159375
Institutional Source Beutler Lab
Gene Symbol Lmtk2
Ensembl Gene ENSMUSG00000038970
Gene Name lemur tyrosine kinase 2
Synonyms BREK, AATYK2, A330101P12Rik, KPI2, KPI-2, 2900041G10Rik, cprk
MMRRC Submission 039489-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.526) question?
Stock # R1434 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 144037254-144125022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144111407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 709 (E709G)
Ref Sequence ENSEMBL: ENSMUSP00000048238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041804]
AlphaFold Q3TYD6
Predicted Effect probably damaging
Transcript: ENSMUST00000041804
AA Change: E709G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970
AA Change: E709G

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
transmembrane domain 42 61 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
STYKc 136 406 3.4e-39 SMART
low complexity region 924 953 N/A INTRINSIC
low complexity region 1019 1035 N/A INTRINSIC
low complexity region 1104 1117 N/A INTRINSIC
low complexity region 1168 1180 N/A INTRINSIC
low complexity region 1252 1266 N/A INTRINSIC
low complexity region 1354 1367 N/A INTRINSIC
low complexity region 1380 1392 N/A INTRINSIC
Meta Mutation Damage Score 0.1424 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency 99% (73/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null mutation in this gene display partial prenatal lethality, male infertility, and azoospermia. [provided by MGI curators]
Allele List at MGI

All alleles(31) : Targeted, knock-out(1) Gene trapped(30)

Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,348,959 (GRCm39) H851N probably benign Het
Adamtsl4 T C 3: 95,588,094 (GRCm39) Y631C probably damaging Het
Ankhd1 A G 18: 36,758,212 (GRCm39) I969V probably benign Het
Apob A G 12: 8,059,715 (GRCm39) I2699M probably damaging Het
Aqr A T 2: 113,980,890 (GRCm39) L297Q probably damaging Het
Arb2a A T 13: 77,910,041 (GRCm39) Y98F probably damaging Het
Camsap1 A G 2: 25,835,190 (GRCm39) Y301H probably damaging Het
Ccdc88c A G 12: 100,905,425 (GRCm39) probably benign Het
Cd209b T A 8: 3,973,367 (GRCm39) I106F possibly damaging Het
Cdkn1b T A 6: 134,898,060 (GRCm39) W60R probably damaging Het
Coasy A G 11: 100,975,822 (GRCm39) probably benign Het
Col2a1 T A 15: 97,877,532 (GRCm39) Q1017L probably damaging Het
Cspg4b G A 13: 113,505,026 (GRCm39) V510I possibly damaging Het
Ctnnal1 T A 4: 56,847,971 (GRCm39) N56I probably damaging Het
Cyb561d2 T A 9: 107,418,842 (GRCm39) probably benign Het
Dcst1 G T 3: 89,259,826 (GRCm39) T632N probably damaging Het
Ddx1 C T 12: 13,287,232 (GRCm39) V267I probably benign Het
Dnah10 A T 5: 124,852,050 (GRCm39) M1736L probably benign Het
Eln G A 5: 134,758,291 (GRCm39) probably benign Het
Elp1 T A 4: 56,781,193 (GRCm39) E493D probably benign Het
Enpp2 A T 15: 54,726,077 (GRCm39) D566E probably damaging Het
Ezh1 T C 11: 101,085,743 (GRCm39) K638R probably damaging Het
Fdx2 C A 9: 20,984,694 (GRCm39) G37W probably benign Het
Grin2b T C 6: 135,820,193 (GRCm39) I340V probably benign Het
Il16 T C 7: 83,304,520 (GRCm39) T671A probably benign Het
Kcnd2 T A 6: 21,216,356 (GRCm39) M20K probably damaging Het
Kndc1 C T 7: 139,502,600 (GRCm39) S962F probably damaging Het
L1td1 A G 4: 98,626,054 (GRCm39) S750G possibly damaging Het
Lama2 A G 10: 27,084,366 (GRCm39) C935R probably damaging Het
Lgalsl T C 11: 20,776,418 (GRCm39) D158G possibly damaging Het
Lman1 A T 18: 66,126,144 (GRCm39) probably null Het
Lrfn3 T C 7: 30,055,352 (GRCm39) H531R possibly damaging Het
Mark3 A G 12: 111,589,759 (GRCm39) probably benign Het
Mov10 T C 3: 104,702,490 (GRCm39) E997G probably damaging Het
Myo15a T A 11: 60,395,157 (GRCm39) W2484R probably benign Het
Myo1g G T 11: 6,459,372 (GRCm39) Q833K probably benign Het
Ncoa3 T A 2: 165,897,430 (GRCm39) D740E probably benign Het
Nol12 A G 15: 78,822,153 (GRCm39) probably benign Het
Nrxn2 T A 19: 6,493,642 (GRCm39) probably null Het
Nsfl1c A C 2: 151,342,666 (GRCm39) I79L probably benign Het
Or52b2 T C 7: 104,986,468 (GRCm39) I152V probably benign Het
Or5b108 A G 19: 13,168,662 (GRCm39) I210M probably benign Het
Or5k1 G T 16: 58,617,811 (GRCm39) H133N probably benign Het
Osbpl8 A C 10: 111,127,442 (GRCm39) E842A probably benign Het
Pdxk G T 10: 78,276,645 (GRCm39) T310K probably benign Het
Phip T G 9: 82,841,658 (GRCm39) K54Q probably damaging Het
Pklr A T 3: 89,050,342 (GRCm39) D366V probably damaging Het
Plxna2 T A 1: 194,433,848 (GRCm39) probably benign Het
Ppp4r3a A T 12: 101,009,783 (GRCm39) V618E probably damaging Het
Prdm12 A T 2: 31,530,319 (GRCm39) Q70L possibly damaging Het
Ptgr3 A G 18: 84,112,596 (GRCm39) K91E probably benign Het
Ptpn21 A T 12: 98,654,849 (GRCm39) M706K probably damaging Het
Ptprq A T 10: 107,422,575 (GRCm39) F1606I probably damaging Het
Rasgrp4 T C 7: 28,837,152 (GRCm39) probably null Het
Rlbp1 C A 7: 79,029,661 (GRCm39) probably null Het
Rtp2 T C 16: 23,746,193 (GRCm39) D166G probably benign Het
Ryr3 A C 2: 112,475,604 (GRCm39) F4481V probably damaging Het
Scn2a A G 2: 65,532,335 (GRCm39) D649G possibly damaging Het
Slc30a5 T A 13: 100,939,950 (GRCm39) D655V probably damaging Het
Slco5a1 G A 1: 12,942,132 (GRCm39) A838V probably benign Het
Spata6l G T 19: 28,905,039 (GRCm39) probably benign Het
Srprb A G 9: 103,067,501 (GRCm39) V239A probably damaging Het
Tceanc2 T C 4: 107,004,837 (GRCm39) T104A probably benign Het
Tcp1 T C 17: 13,141,493 (GRCm39) probably null Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr19 G A 5: 65,380,847 (GRCm39) probably benign Het
Zfhx4 T A 3: 5,306,919 (GRCm39) H48Q probably benign Het
Zfp787 T A 7: 6,135,234 (GRCm39) H339L probably damaging Het
Zfp839 G T 12: 110,827,333 (GRCm39) R408L probably benign Het
Other mutations in Lmtk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Lmtk2 APN 5 144,070,973 (GRCm39) missense probably damaging 1.00
IGL00496:Lmtk2 APN 5 144,111,512 (GRCm39) missense probably benign
IGL00848:Lmtk2 APN 5 144,113,216 (GRCm39) missense probably benign
IGL01450:Lmtk2 APN 5 144,111,520 (GRCm39) missense probably benign 0.03
IGL01833:Lmtk2 APN 5 144,112,753 (GRCm39) nonsense probably null
IGL01967:Lmtk2 APN 5 144,119,597 (GRCm39) missense probably benign
IGL01998:Lmtk2 APN 5 144,112,883 (GRCm39) missense probably damaging 1.00
IGL02106:Lmtk2 APN 5 144,112,769 (GRCm39) missense probably benign 0.03
IGL02147:Lmtk2 APN 5 144,093,754 (GRCm39) missense possibly damaging 0.78
IGL02581:Lmtk2 APN 5 144,085,166 (GRCm39) missense probably damaging 1.00
madagascar UTSW 5 144,111,737 (GRCm39) missense probably benign 0.02
A4554:Lmtk2 UTSW 5 144,103,135 (GRCm39) missense possibly damaging 0.82
R0039:Lmtk2 UTSW 5 144,103,205 (GRCm39) missense probably damaging 1.00
R0039:Lmtk2 UTSW 5 144,103,205 (GRCm39) missense probably damaging 1.00
R0108:Lmtk2 UTSW 5 144,111,103 (GRCm39) missense possibly damaging 0.78
R0367:Lmtk2 UTSW 5 144,111,103 (GRCm39) missense possibly damaging 0.78
R0515:Lmtk2 UTSW 5 144,111,809 (GRCm39) missense possibly damaging 0.77
R1617:Lmtk2 UTSW 5 144,110,680 (GRCm39) missense probably damaging 1.00
R1760:Lmtk2 UTSW 5 144,110,993 (GRCm39) missense probably damaging 0.99
R1785:Lmtk2 UTSW 5 144,111,806 (GRCm39) missense possibly damaging 0.61
R1786:Lmtk2 UTSW 5 144,111,806 (GRCm39) missense possibly damaging 0.61
R1907:Lmtk2 UTSW 5 144,111,928 (GRCm39) missense probably benign 0.00
R2130:Lmtk2 UTSW 5 144,111,806 (GRCm39) missense possibly damaging 0.61
R2131:Lmtk2 UTSW 5 144,111,806 (GRCm39) missense possibly damaging 0.61
R2132:Lmtk2 UTSW 5 144,111,806 (GRCm39) missense possibly damaging 0.61
R2133:Lmtk2 UTSW 5 144,111,806 (GRCm39) missense possibly damaging 0.61
R2140:Lmtk2 UTSW 5 144,084,433 (GRCm39) missense probably damaging 1.00
R2141:Lmtk2 UTSW 5 144,084,433 (GRCm39) missense probably damaging 1.00
R2210:Lmtk2 UTSW 5 144,084,427 (GRCm39) missense probably damaging 1.00
R2289:Lmtk2 UTSW 5 144,112,924 (GRCm39) missense possibly damaging 0.80
R2312:Lmtk2 UTSW 5 144,110,444 (GRCm39) missense probably damaging 1.00
R2352:Lmtk2 UTSW 5 144,110,729 (GRCm39) missense probably benign 0.05
R3870:Lmtk2 UTSW 5 144,103,245 (GRCm39) splice site probably benign
R4011:Lmtk2 UTSW 5 144,112,697 (GRCm39) missense probably benign 0.01
R4272:Lmtk2 UTSW 5 144,120,044 (GRCm39) missense probably benign 0.05
R4361:Lmtk2 UTSW 5 144,084,482 (GRCm39) missense probably damaging 1.00
R4580:Lmtk2 UTSW 5 144,111,599 (GRCm39) missense possibly damaging 0.56
R4621:Lmtk2 UTSW 5 144,111,752 (GRCm39) missense probably benign 0.02
R4981:Lmtk2 UTSW 5 144,113,265 (GRCm39) missense probably damaging 1.00
R5818:Lmtk2 UTSW 5 144,093,718 (GRCm39) missense probably benign 0.07
R5984:Lmtk2 UTSW 5 144,111,656 (GRCm39) missense probably benign
R6083:Lmtk2 UTSW 5 144,119,574 (GRCm39) missense probably damaging 1.00
R6180:Lmtk2 UTSW 5 144,112,160 (GRCm39) missense probably damaging 1.00
R6411:Lmtk2 UTSW 5 144,111,404 (GRCm39) missense probably damaging 0.99
R6544:Lmtk2 UTSW 5 144,110,624 (GRCm39) missense possibly damaging 0.68
R6628:Lmtk2 UTSW 5 144,111,503 (GRCm39) missense probably benign 0.03
R6698:Lmtk2 UTSW 5 144,111,737 (GRCm39) missense probably benign 0.02
R6742:Lmtk2 UTSW 5 144,085,175 (GRCm39) missense probably damaging 1.00
R6763:Lmtk2 UTSW 5 144,110,615 (GRCm39) missense probably damaging 1.00
R7286:Lmtk2 UTSW 5 144,111,178 (GRCm39) nonsense probably null
R7390:Lmtk2 UTSW 5 144,066,261 (GRCm39) missense possibly damaging 0.79
R7594:Lmtk2 UTSW 5 144,110,564 (GRCm39) missense probably damaging 1.00
R7660:Lmtk2 UTSW 5 144,085,158 (GRCm39) missense probably damaging 1.00
R7785:Lmtk2 UTSW 5 144,111,571 (GRCm39) missense probably benign 0.00
R7977:Lmtk2 UTSW 5 144,111,959 (GRCm39) missense probably benign 0.02
R7987:Lmtk2 UTSW 5 144,111,959 (GRCm39) missense probably benign 0.02
R8089:Lmtk2 UTSW 5 144,093,718 (GRCm39) missense probably benign 0.07
R8138:Lmtk2 UTSW 5 144,112,415 (GRCm39) missense probably damaging 0.99
R8694:Lmtk2 UTSW 5 144,108,566 (GRCm39) missense probably damaging 1.00
R8714:Lmtk2 UTSW 5 144,112,876 (GRCm39) missense probably damaging 1.00
R8816:Lmtk2 UTSW 5 144,112,793 (GRCm39) nonsense probably null
R8845:Lmtk2 UTSW 5 144,110,704 (GRCm39) missense probably damaging 1.00
R8856:Lmtk2 UTSW 5 144,113,079 (GRCm39) missense probably damaging 1.00
R9306:Lmtk2 UTSW 5 144,119,599 (GRCm39) missense probably benign 0.17
R9494:Lmtk2 UTSW 5 144,037,338 (GRCm39) start gained probably benign
X0024:Lmtk2 UTSW 5 144,111,068 (GRCm39) missense probably benign 0.22
Z1088:Lmtk2 UTSW 5 144,119,669 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- TGACAAAGCAGATGACCTGCCC -3'
(R):5'- CGTGTCTCCCTGTGACAAAGGAAAG -3'

Sequencing Primer
(F):5'- GGAGTTCAAGCTGACTTTAAGCC -3'
(R):5'- AGTCTAGTGTATTTTCCAGGAACTC -3'
Posted On 2014-03-14