Incidental Mutation 'IGL02106:Lmtk2'
ID279995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lmtk2
Ensembl Gene ENSMUSG00000038970
Gene Namelemur tyrosine kinase 2
SynonymsAATYK2, A330101P12Rik, KPI2, cprk, KPI-2, 2900041G10Rik, BREK
Accession Numbers

Genbank: NM_001081109; MGI: 3036247

Is this an essential gene? Possibly non essential (E-score: 0.303) question?
Stock #IGL02106
Quality Score
Status
Chromosome5
Chromosomal Location144100436-144188204 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 144175951 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 1163 (V1163E)
Ref Sequence ENSEMBL: ENSMUSP00000048238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041804]
Predicted Effect probably benign
Transcript: ENSMUST00000041804
AA Change: V1163E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970
AA Change: V1163E

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
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l A G 9: 44,509,199 N1264D probably benign Het
Bmyc A G 2: 25,707,070 K49E probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ceacam2 A G 7: 25,530,741 S147P probably benign Het
Cep152 G T 2: 125,602,936 probably null Het
Cnbd1 G T 4: 18,894,993 P250T possibly damaging Het
Col6a4 A G 9: 106,063,105 C1209R possibly damaging Het
Coro1c T C 5: 113,852,273 T116A probably benign Het
Ddx46 A G 13: 55,677,603 probably benign Het
Dnaaf5 T C 5: 139,151,513 I207T probably damaging Het
Erap1 A G 13: 74,646,639 D139G probably benign Het
Fbxw22 A T 9: 109,402,019 I121N possibly damaging Het
Fcmr T C 1: 130,875,135 S162P probably benign Het
Gadl1 A G 9: 115,937,157 probably benign Het
Gli2 T A 1: 118,836,735 S1229C probably benign Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gne T C 4: 44,037,306 N692D probably damaging Het
Knl1 A G 2: 119,072,008 T1397A possibly damaging Het
Lama3 C A 18: 12,468,314 A1016E probably damaging Het
Lhfpl2 A G 13: 94,191,911 D160G probably benign Het
Lrrtm2 G T 18: 35,212,815 S478* probably null Het
Nfatc2ip T C 7: 126,390,564 probably null Het
Nlrp12 A G 7: 3,233,944 I775T probably benign Het
Npr1 A G 3: 90,464,858 F216L probably benign Het
Olfr1451 G T 19: 12,999,565 S193I possibly damaging Het
Olfr206 T A 16: 59,345,024 N226Y probably benign Het
Olfr734 A T 14: 50,320,160 L225H probably damaging Het
Pkd1l1 C A 11: 8,833,800 G2052C probably damaging Het
Ppp1r16b A G 2: 158,746,531 N112S possibly damaging Het
Prr11 A G 11: 87,103,315 probably benign Het
Scap A G 9: 110,381,656 probably benign Het
Sirt1 C T 10: 63,335,829 R191Q probably damaging Het
Slc38a6 A C 12: 73,350,546 S321R possibly damaging Het
Sp140 T C 1: 85,643,219 V460A probably benign Het
Spdye4c A T 2: 128,592,666 K54N possibly damaging Het
Spta1 T A 1: 174,203,294 N947K probably benign Het
Srgap1 A G 10: 121,785,693 V965A possibly damaging Het
Tmem209 A C 6: 30,508,660 probably null Het
Trim37 A T 11: 87,201,404 K123* probably null Het
Trio T C 15: 27,744,158 T2563A possibly damaging Het
Utrn A T 10: 12,413,973 S734T possibly damaging Het
Vars2 A G 17: 35,664,621 probably benign Het
Xrn1 G A 9: 95,977,805 E417K probably benign Het
Yeats2 T A 16: 20,193,220 V515E possibly damaging Het
Other mutations in Lmtk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Lmtk2 APN 5 144134155 missense probably damaging 1.00
IGL00496:Lmtk2 APN 5 144174694 missense probably benign
IGL00848:Lmtk2 APN 5 144176398 missense probably benign
IGL01450:Lmtk2 APN 5 144174702 missense probably benign 0.03
IGL01833:Lmtk2 APN 5 144175935 nonsense probably null
IGL01967:Lmtk2 APN 5 144182779 missense probably benign
IGL01998:Lmtk2 APN 5 144176065 missense probably damaging 1.00
IGL02147:Lmtk2 APN 5 144156936 missense possibly damaging 0.78
IGL02581:Lmtk2 APN 5 144148348 missense probably damaging 1.00
A4554:Lmtk2 UTSW 5 144166317 missense possibly damaging 0.82
R0039:Lmtk2 UTSW 5 144166387 missense probably damaging 1.00
R0039:Lmtk2 UTSW 5 144166387 missense probably damaging 1.00
R0108:Lmtk2 UTSW 5 144174285 missense possibly damaging 0.78
R0367:Lmtk2 UTSW 5 144174285 missense possibly damaging 0.78
R0515:Lmtk2 UTSW 5 144174991 missense possibly damaging 0.77
R1434:Lmtk2 UTSW 5 144174589 missense probably damaging 1.00
R1617:Lmtk2 UTSW 5 144173862 missense probably damaging 1.00
R1760:Lmtk2 UTSW 5 144174175 missense probably damaging 0.99
R1785:Lmtk2 UTSW 5 144174988 missense possibly damaging 0.61
R1786:Lmtk2 UTSW 5 144174988 missense possibly damaging 0.61
R1907:Lmtk2 UTSW 5 144175110 missense probably benign 0.00
R2130:Lmtk2 UTSW 5 144174988 missense possibly damaging 0.61
R2131:Lmtk2 UTSW 5 144174988 missense possibly damaging 0.61
R2132:Lmtk2 UTSW 5 144174988 missense possibly damaging 0.61
R2133:Lmtk2 UTSW 5 144174988 missense possibly damaging 0.61
R2140:Lmtk2 UTSW 5 144147615 missense probably damaging 1.00
R2141:Lmtk2 UTSW 5 144147615 missense probably damaging 1.00
R2210:Lmtk2 UTSW 5 144147609 missense probably damaging 1.00
R2289:Lmtk2 UTSW 5 144176106 missense possibly damaging 0.80
R2312:Lmtk2 UTSW 5 144173626 missense probably damaging 1.00
R2352:Lmtk2 UTSW 5 144173911 missense probably benign 0.05
R3870:Lmtk2 UTSW 5 144166427 splice site probably benign
R4011:Lmtk2 UTSW 5 144175879 missense probably benign 0.01
R4272:Lmtk2 UTSW 5 144183226 missense probably benign 0.05
R4361:Lmtk2 UTSW 5 144147664 missense probably damaging 1.00
R4580:Lmtk2 UTSW 5 144174781 missense possibly damaging 0.56
R4621:Lmtk2 UTSW 5 144174934 missense probably benign 0.02
R4981:Lmtk2 UTSW 5 144176447 missense probably damaging 1.00
R5818:Lmtk2 UTSW 5 144156900 missense probably benign 0.07
R5984:Lmtk2 UTSW 5 144174838 missense probably benign
R6083:Lmtk2 UTSW 5 144182756 missense probably damaging 1.00
R6180:Lmtk2 UTSW 5 144175342 missense probably damaging 1.00
R6411:Lmtk2 UTSW 5 144174586 missense probably damaging 0.99
R6544:Lmtk2 UTSW 5 144173806 missense possibly damaging 0.68
R6628:Lmtk2 UTSW 5 144174685 missense probably benign 0.03
R6698:Lmtk2 UTSW 5 144174919 missense probably benign 0.02
R6742:Lmtk2 UTSW 5 144148357 missense probably damaging 1.00
R6763:Lmtk2 UTSW 5 144173797 missense probably damaging 1.00
X0024:Lmtk2 UTSW 5 144174250 missense probably benign 0.22
Z1088:Lmtk2 UTSW 5 144182851 missense probably benign 0.12
Posted On2015-04-16