Incidental Mutation 'R5842:Mtpn'
ID 450492
Institutional Source Beutler Lab
Gene Symbol Mtpn
Ensembl Gene ENSMUSG00000029840
Gene Name myotrophin
Synonyms V1, Gcdp, 5033418D15Rik
MMRRC Submission 043223-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.405) question?
Stock # R5842 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 35485841-35516823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35489225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 100 (D100N)
Ref Sequence ENSEMBL: ENSMUSP00000031866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031866]
AlphaFold P62774
PDB Structure Solution NMR structure of V-1 bound to capping protein (CP) [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000031866
AA Change: D100N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000031866
Gene: ENSMUSG00000029840
AA Change: D100N

DomainStartEndE-ValueType
Blast:ANK 1 30 8e-9 BLAST
ANK 34 63 7.64e-6 SMART
ANK 67 96 1.14e-4 SMART
Meta Mutation Damage Score 0.1901 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 G A 3: 127,474,618 (GRCm39) H462Y probably damaging Het
Atp12a T C 14: 56,615,747 (GRCm39) I503T probably damaging Het
Bmp6 T A 13: 38,530,543 (GRCm39) V212D probably damaging Het
Col7a1 A G 9: 108,794,883 (GRCm39) D1479G unknown Het
Eea1 A G 10: 95,853,986 (GRCm39) D548G probably damaging Het
Eif5a2 T C 3: 28,848,546 (GRCm39) V135A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fstl5 T G 3: 76,229,590 (GRCm39) N130K possibly damaging Het
Gatm T C 2: 122,434,108 (GRCm39) I147V probably benign Het
Jakmip1 C T 5: 37,264,612 (GRCm39) R418C probably damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Matn2 A T 15: 34,399,202 (GRCm39) D363V probably damaging Het
Mov10 G A 3: 104,706,695 (GRCm39) probably benign Het
Nbas T C 12: 13,319,267 (GRCm39) probably null Het
Nlgn1 A T 3: 26,187,892 (GRCm39) probably null Het
Nnt T A 13: 119,531,283 (GRCm39) I155F probably damaging Het
Or5p80 A G 7: 108,229,859 (GRCm39) Y220C probably benign Het
Pacc1 G T 1: 191,078,986 (GRCm39) C223F probably damaging Het
Parp9 A G 16: 35,763,778 (GRCm39) I19V possibly damaging Het
Pcdha11 T A 18: 37,144,337 (GRCm39) S143T possibly damaging Het
Pdzph1 T G 17: 59,281,407 (GRCm39) S292R possibly damaging Het
Pmvk T A 3: 89,374,927 (GRCm39) V108D probably damaging Het
Rc3h2 T C 2: 37,268,383 (GRCm39) T916A possibly damaging Het
Slc23a1 T A 18: 35,755,935 (GRCm39) I393F probably damaging Het
Slc4a7 T A 14: 14,778,866 (GRCm38) M925K probably damaging Het
Spag17 A G 3: 99,846,566 (GRCm39) D30G possibly damaging Het
Syde2 A G 3: 145,704,775 (GRCm39) I576V probably benign Het
Tgm2 C T 2: 157,985,001 (GRCm39) R35H probably damaging Het
Tiam1 A G 16: 89,652,887 (GRCm39) V745A probably benign Het
Timeless T C 10: 128,083,328 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,289 (GRCm39) K129E possibly damaging Het
Ttc6 T C 12: 57,783,802 (GRCm39) Y1754H probably damaging Het
Ube4b G T 4: 149,415,887 (GRCm39) T1069N probably benign Het
Ugcg C T 4: 59,219,545 (GRCm39) S294L possibly damaging Het
Vgll2 T C 10: 51,901,388 (GRCm39) L106P probably damaging Het
Vsig10l T A 7: 43,118,396 (GRCm39) V798E probably benign Het
Wdr73 A T 7: 80,541,458 (GRCm39) H361Q probably damaging Het
Xrcc3 A T 12: 111,770,964 (GRCm39) F322I possibly damaging Het
Ypel1 T C 16: 16,912,851 (GRCm39) T26A possibly damaging Het
Other mutations in Mtpn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Mtpn APN 6 35,499,711 (GRCm39) missense probably damaging 0.96
IGL00957:Mtpn APN 6 35,516,547 (GRCm39) utr 5 prime probably benign
IGL03238:Mtpn APN 6 35,499,708 (GRCm39) missense probably damaging 1.00
lamco UTSW 6 35,499,693 (GRCm39) missense possibly damaging 0.65
R0972:Mtpn UTSW 6 35,498,911 (GRCm39) missense probably null 0.78
R1311:Mtpn UTSW 6 35,489,185 (GRCm39) missense possibly damaging 0.94
R1462:Mtpn UTSW 6 35,499,693 (GRCm39) missense possibly damaging 0.65
R1462:Mtpn UTSW 6 35,499,693 (GRCm39) missense possibly damaging 0.65
R3076:Mtpn UTSW 6 35,498,879 (GRCm39) missense possibly damaging 0.67
R5297:Mtpn UTSW 6 35,489,225 (GRCm39) missense probably benign 0.00
R5334:Mtpn UTSW 6 35,489,225 (GRCm39) missense probably benign 0.00
R5336:Mtpn UTSW 6 35,489,225 (GRCm39) missense probably benign 0.00
R5337:Mtpn UTSW 6 35,489,225 (GRCm39) missense probably benign 0.00
R5512:Mtpn UTSW 6 35,489,225 (GRCm39) missense probably benign 0.00
R5809:Mtpn UTSW 6 35,489,225 (GRCm39) missense probably benign 0.00
R5841:Mtpn UTSW 6 35,489,225 (GRCm39) missense probably benign 0.00
R5843:Mtpn UTSW 6 35,489,225 (GRCm39) missense probably benign 0.00
R5844:Mtpn UTSW 6 35,489,225 (GRCm39) missense probably benign 0.00
R5846:Mtpn UTSW 6 35,489,225 (GRCm39) missense probably benign 0.00
R9264:Mtpn UTSW 6 35,489,176 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ACCCTCTTAAAGTATTTAGCTGAAGAA -3'
(R):5'- CGGTTAAGTGAGCTCCAACTCT -3'

Sequencing Primer
(F):5'- AGCTGGCAGATAGAAAGTGAC -3'
(R):5'- TGAATCAGATGTAAGCTCTCAGC -3'
Posted On 2016-12-20