Incidental Mutation 'R9283:Lamtor3'
ID 703731
Institutional Source Beutler Lab
Gene Symbol Lamtor3
Ensembl Gene ENSMUSG00000091512
Gene Name late endosomal/lysosomal adaptor, MAPK and MTOR activator 3
Synonyms Mp1, Mapksp1, Map2k1ip1, MEK binding partner 1
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R9283 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 137624316-137634523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137633123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 85 (R85C)
Ref Sequence ENSEMBL: ENSMUSP00000130811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029806] [ENSMUST00000136613] [ENSMUST00000168345] [ENSMUST00000197064] [ENSMUST00000197817]
AlphaFold O88653
PDB Structure Crystal Structure of p14/MP1 at 1.9 A resolution [X-RAY DIFFRACTION]
Crystal structure of the p14/MP1 complex at 2.15 A resolution [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000029806
SMART Domains Protein: ENSMUSP00000029806
Gene: ENSMUSG00000028159

DomainStartEndE-ValueType
SH2 33 115 1.1e-20 SMART
PH 165 261 6.64e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136613
SMART Domains Protein: ENSMUSP00000119634
Gene: ENSMUSG00000028159

DomainStartEndE-ValueType
PH 124 220 6.64e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168345
AA Change: R85C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000130811
Gene: ENSMUSG00000091512
AA Change: R85C

DomainStartEndE-ValueType
MAPKK1_Int 3 121 6.65e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197064
AA Change: R85C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000142512
Gene: ENSMUSG00000091512
AA Change: R85C

DomainStartEndE-ValueType
MAPKK1_Int 3 121 6.65e-63 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197817
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,258,499 (GRCm39) V47A probably benign Het
Aamdc A G 7: 97,199,842 (GRCm39) V140A probably benign Het
Acsm3 T A 7: 119,373,115 (GRCm39) M206K possibly damaging Het
Adprhl1 T C 8: 13,273,540 (GRCm39) T1073A probably benign Het
Aoc1 A G 6: 48,882,261 (GRCm39) I46V probably benign Het
Ap4b1 A G 3: 103,722,259 (GRCm39) S246G probably damaging Het
Bach1 A G 16: 87,516,211 (GRCm39) T251A probably benign Het
Cry2 A G 2: 92,244,249 (GRCm39) L308P probably damaging Het
Daam1 G T 12: 72,035,696 (GRCm39) G964C probably damaging Het
Ddx10 T G 9: 53,146,656 (GRCm39) N189H probably benign Het
Dlg4 T A 11: 69,922,617 (GRCm39) C241* probably null Het
Dpy19l1 G T 9: 24,332,412 (GRCm39) Y489* probably null Het
E2f4 C A 8: 106,024,395 (GRCm39) A8E probably benign Het
Gm3486 T C 14: 41,210,268 (GRCm39) N71S possibly damaging Het
Ighv1-23 A G 12: 114,728,225 (GRCm39) W66R probably damaging Het
Kcnh5 A G 12: 75,023,307 (GRCm39) L587P probably damaging Het
Kctd16 T C 18: 40,392,233 (GRCm39) Y274H possibly damaging Het
Kif16b T A 2: 142,554,900 (GRCm39) M633L probably benign Het
Kif23 T C 9: 61,852,651 (GRCm39) N21S probably benign Het
Lin9 A T 1: 180,493,493 (GRCm39) T240S probably damaging Het
Mtus1 C A 8: 41,536,519 (GRCm39) G399V probably benign Het
Mup8 C T 4: 60,221,903 (GRCm39) V77I probably benign Het
Myo5b C T 18: 74,777,149 (GRCm39) A403V probably benign Het
Naf1 C A 8: 67,313,503 (GRCm39) A162E unknown Het
Nat10 G A 2: 103,556,092 (GRCm39) Q910* probably null Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Npas2 A G 1: 39,326,689 (GRCm39) K58R probably damaging Het
Nsd2 A T 5: 34,001,058 (GRCm39) I192F probably benign Het
Nup98 C A 7: 101,788,037 (GRCm39) R1011L probably benign Het
Ophn1 G A X: 97,622,145 (GRCm39) T668M probably benign Het
Or10a3 C T 7: 108,480,289 (GRCm39) A175T probably benign Het
Or2d4 G A 7: 106,543,806 (GRCm39) T134I probably benign Het
Or5b105 C A 19: 13,079,821 (GRCm39) M282I probably damaging Het
Or5b12b T A 19: 12,861,961 (GRCm39) C239S probably damaging Het
Or7e177 A G 9: 20,212,419 (GRCm39) K309E possibly damaging Het
Pcdh17 C T 14: 84,685,593 (GRCm39) P687S possibly damaging Het
Pdpr C T 8: 111,856,268 (GRCm39) R664W possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pfas A T 11: 68,884,708 (GRCm39) V498E probably damaging Het
Pfpl A T 19: 12,406,220 (GRCm39) Y157F probably damaging Het
Piezo2 A T 18: 63,157,637 (GRCm39) F2358I probably damaging Het
Pip5k1b T C 19: 24,337,376 (GRCm39) Y304C probably damaging Het
Pls1 G A 9: 95,655,642 (GRCm39) A370V probably benign Het
Polm A T 11: 5,779,050 (GRCm39) L490H probably damaging Het
Prdm5 T C 6: 65,858,060 (GRCm39) C375R probably damaging Het
Scmh1 A T 4: 120,319,337 (GRCm39) M21L probably benign Het
Sec16a C A 2: 26,313,904 (GRCm39) R449S Het
Sin3a C T 9: 57,002,717 (GRCm39) T203I probably damaging Het
Six5 A G 7: 18,829,148 (GRCm39) E196G probably damaging Het
Skint8 T C 4: 111,785,644 (GRCm39) V30A probably damaging Het
Slc2a12 G A 10: 22,540,511 (GRCm39) G122E probably damaging Het
Smim14 A G 5: 65,625,780 (GRCm39) C11R probably damaging Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Tanc1 T C 2: 59,630,174 (GRCm39) I718T probably damaging Het
Tead4 A G 6: 128,205,592 (GRCm39) L370P probably damaging Het
Tnrc6c A G 11: 117,591,630 (GRCm39) K15E unknown Het
Trim55 T G 3: 19,699,612 (GRCm39) probably null Het
Trpm1 A T 7: 63,873,623 (GRCm39) N510I probably benign Het
Trps1 A G 15: 50,694,447 (GRCm39) V616A probably damaging Het
Usp42 A T 5: 143,705,264 (GRCm39) V405E probably damaging Het
Zfp11 A T 5: 129,734,748 (GRCm39) S238T probably damaging Het
Zfp608 T C 18: 55,030,913 (GRCm39) H1009R possibly damaging Het
Other mutations in Lamtor3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0056:Lamtor3 UTSW 3 137,632,711 (GRCm39) unclassified probably benign
R5013:Lamtor3 UTSW 3 137,630,909 (GRCm39) missense probably damaging 1.00
R5907:Lamtor3 UTSW 3 137,633,054 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TAGATGGTGCCGTTAGCTTAC -3'
(R):5'- AAGAGCATCTGGAAGCCAC -3'

Sequencing Primer
(F):5'- TACATAGCTGCGATTCTTCAACAC -3'
(R):5'- ATCTGGAAGCCACCGTCGAG -3'
Posted On 2022-03-25