Incidental Mutation 'R4361:Lmtk2'
ID 324905
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 041112-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.526) question?
Stock # R4361 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 144037254-144125022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144084482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 172 (S172R)
Ref Sequence ENSEMBL: ENSMUSP00000048238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041804]
AlphaFold Q3TYD6
Predicted Effect probably damaging
Transcript: ENSMUST00000041804
AA Change: S172R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970
AA Change: S172R

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 0.2136 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (61/61)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,139,688 (GRCm39) T538A probably damaging Het
4930578I07Rik T C 14: 67,175,850 (GRCm39) noncoding transcript Het
Aadac T A 3: 59,947,182 (GRCm39) S293R probably benign Het
Cc2d1b G A 4: 108,481,947 (GRCm39) probably benign Het
Ccdc157 C T 11: 4,096,550 (GRCm39) A400T probably damaging Het
Cdc42ep5 A G 7: 4,154,779 (GRCm39) V3A possibly damaging Het
Cyp11b1 T A 15: 74,710,865 (GRCm39) M232L possibly damaging Het
Dhrs2 G A 14: 55,478,646 (GRCm39) D264N probably damaging Het
Dram2 T C 3: 106,473,531 (GRCm39) probably benign Het
Dtx4 C A 19: 12,462,660 (GRCm39) S373I probably benign Het
Eif4a1 G A 11: 69,558,290 (GRCm39) probably benign Het
Eps15 T C 4: 109,237,228 (GRCm39) probably null Het
Fam135b T A 15: 71,362,676 (GRCm39) Q235L probably damaging Het
Fgfr3 T C 5: 33,880,676 (GRCm39) probably benign Het
Gabra4 C T 5: 71,790,888 (GRCm39) probably null Het
Gins1 A G 2: 150,767,821 (GRCm39) Y117C probably damaging Het
Gm12253 T A 11: 58,325,687 (GRCm39) S53T probably benign Het
Gne C A 4: 44,059,947 (GRCm39) A149S possibly damaging Het
Gpc2 A T 5: 138,276,552 (GRCm39) C191* probably null Het
Has2 G T 15: 56,545,344 (GRCm39) A86E probably damaging Het
Ift80 A T 3: 68,870,982 (GRCm39) S205T probably damaging Het
Irx5 G T 8: 93,085,025 (GRCm39) A72S probably damaging Het
Kcnmb4 A T 10: 116,309,410 (GRCm39) V6E probably benign Het
Kcnt1 A T 2: 25,768,044 (GRCm39) Q51L probably benign Het
Klk1b11 A G 7: 43,645,378 (GRCm39) probably null Het
Kmt2d T G 15: 98,761,551 (GRCm39) M600L unknown Het
Lrrc37 CTTTT CTTTTT 11: 103,508,327 (GRCm39) probably null Het
Lrrc46 G A 11: 96,925,496 (GRCm39) probably benign Het
Mab21l2 C T 3: 86,454,497 (GRCm39) V168M probably damaging Het
Magea3 A C X: 153,731,850 (GRCm39) C218G possibly damaging Het
Magea3 C A X: 153,731,849 (GRCm39) C218F probably benign Het
Man1a2 T C 3: 100,563,358 (GRCm39) K96E probably benign Het
Mroh2a A T 1: 88,182,687 (GRCm39) N1205I possibly damaging Het
Myf6 GGGGGCAG GG 10: 107,330,293 (GRCm39) probably benign Het
Myom2 G A 8: 15,162,018 (GRCm39) V984I possibly damaging Het
Nav1 G A 1: 135,535,175 (GRCm39) probably benign Het
Nav3 T C 10: 109,688,847 (GRCm39) K477E probably damaging Het
Nup98 T A 7: 101,794,921 (GRCm39) H862L probably damaging Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Pcnx2 G T 8: 126,495,037 (GRCm39) S1608* probably null Het
Pramel16 A G 4: 143,677,433 (GRCm39) F49L possibly damaging Het
Ren1 A G 1: 133,286,779 (GRCm39) I303V probably benign Het
Retreg3 T A 11: 100,994,713 (GRCm39) probably null Het
Rnf6 C A 5: 146,148,089 (GRCm39) V310F probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scrn2 C T 11: 96,923,064 (GRCm39) A169V probably null Het
Slc4a10 T C 2: 62,073,729 (GRCm39) S264P probably benign Het
Tex26 A T 5: 149,384,388 (GRCm39) Q102L probably benign Het
Tex38 A G 4: 115,637,420 (GRCm39) S128P probably benign Het
Trmt1l A G 1: 151,311,626 (GRCm39) probably benign Het
Tyr G T 7: 87,078,284 (GRCm39) H525Q probably benign Het
Veph1 T C 3: 66,066,737 (GRCm39) N417S probably benign Het
Zfp597 A T 16: 3,683,764 (GRCm39) S331T 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
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'- CCATAGTGTGGGTTCCATACATTC -3'
(R):5'- ACTGACATGAGGCCGCTTTG -3'

Sequencing Primer
(F):5'- TGTCATACCCATGTGAGCAG -3'
(R):5'- AGGCCGCTTTGGGTCTAATGAG -3'
Posted On 2015-07-06