Incidental Mutation 'R6544:Lmtk2'
ID 521012
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 044670-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.526) question?
Stock # R6544 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 144037254-144125022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144110624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 448 (H448R)
Ref Sequence ENSEMBL: ENSMUSP00000048238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041804]
AlphaFold Q3TYD6
Predicted Effect possibly damaging
Transcript: ENSMUST00000041804
AA Change: H448R

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970
AA Change: H448R

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 0.0959 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Actr2 A G 11: 20,050,933 (GRCm39) F17L probably damaging Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Ark2c T A 18: 77,650,931 (GRCm39) probably benign Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Cog7 C T 7: 121,534,966 (GRCm39) R573Q probably damaging Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Fbxo47 G A 11: 97,747,089 (GRCm39) R326C probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Gprin1 G A 13: 54,888,124 (GRCm39) A50V possibly damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5an1 T C 19: 12,260,519 (GRCm39) Y36H probably damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Pspc1 T C 14: 57,001,660 (GRCm39) *59W probably null Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Rorb G T 19: 18,929,614 (GRCm39) P304T possibly damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Serpine2 C T 1: 79,780,847 (GRCm39) probably null Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tns2 A C 15: 102,022,269 (GRCm39) K1182N possibly damaging Het
Tpte G T 8: 22,805,121 (GRCm39) probably null Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T probably damaging 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
R1434:Lmtk2 UTSW 5 144,111,407 (GRCm39) missense probably damaging 1.00
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
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'- TTGTTAACGTCCCCTGTGTG -3'
(R):5'- TCCACTGGGAAGAACATGCTG -3'

Sequencing Primer
(F):5'- CAGGTACGAAGTGCTGCAGTTC -3'
(R):5'- CTGGAGTAAGACAGGGCTTCATCTG -3'
Posted On 2018-06-06