Incidental Mutation 'R5843:Mtpn'
ID 450537
Institutional Source Beutler Lab
Gene Symbol Mtpn
Ensembl Gene ENSMUSG00000029840
Gene Name myotrophin
Synonyms V1, Gcdp, 5033418D15Rik
MMRRC Submission 043224-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.475) question?
Stock # R5843 (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: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A G 1: 89,537,272 (GRCm39) T93A probably damaging Het
Atp6v1h T A 1: 5,232,312 (GRCm39) probably null Het
Ccnk T C 12: 108,159,989 (GRCm39) V157A probably damaging Het
Cdh10 T C 15: 18,985,286 (GRCm39) F317L possibly damaging Het
Chn1 A G 2: 73,510,092 (GRCm39) I139T probably benign Het
Creld2 A T 15: 88,710,632 (GRCm39) D349V probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Frem1 T C 4: 82,854,289 (GRCm39) D1660G probably damaging Het
Hipk3 A C 2: 104,270,569 (GRCm39) S470R possibly damaging Het
Hook2 T A 8: 85,717,912 (GRCm39) I37K probably damaging Het
Hpcal1 T C 12: 17,841,200 (GRCm39) F193L probably benign Het
Hps4 T C 5: 112,497,296 (GRCm39) probably null Het
Iqgap1 T C 7: 80,375,828 (GRCm39) N1349S probably benign Het
Khk A G 5: 31,079,275 (GRCm39) I6V possibly damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lrch3 T C 16: 32,818,896 (GRCm39) V629A probably damaging Het
Muc13 A G 16: 33,626,421 (GRCm39) Y320C probably damaging Het
Or2aj4 T A 16: 19,385,333 (GRCm39) Q100L probably damaging Het
Or2y1b A T 11: 49,209,076 (GRCm39) R234S probably benign Het
Or5ac21 T A 16: 59,123,724 (GRCm39) D69E probably damaging Het
Parpbp A G 10: 87,969,053 (GRCm39) L131P probably damaging Het
Prl3a1 T C 13: 27,454,093 (GRCm39) W24R probably damaging Het
Ptprk T A 10: 28,369,060 (GRCm39) N677K probably damaging Het
Rbm39 A T 2: 156,004,793 (GRCm39) D181E possibly damaging Het
Ros1 T C 10: 52,042,293 (GRCm39) T220A possibly damaging Het
Slc46a3 T C 5: 147,823,021 (GRCm39) I274V probably benign Het
Tas2r104 T A 6: 131,661,938 (GRCm39) N257I probably damaging Het
Timeless A G 10: 128,080,113 (GRCm39) probably null Het
Tmem63a T C 1: 180,800,398 (GRCm39) probably null Het
Traf5 T C 1: 191,729,446 (GRCm39) D535G possibly damaging Het
Trank1 C T 9: 111,194,928 (GRCm39) S984L possibly damaging Het
Trpm6 A G 19: 18,833,539 (GRCm39) T1573A probably benign Het
Ube3b T A 5: 114,550,360 (GRCm39) I835N probably damaging Het
Wnt16 T A 6: 22,290,947 (GRCm39) I125N probably damaging Het
Xirp2 G T 2: 67,307,129 (GRCm39) probably benign Het
Zbtb47 T C 9: 121,596,405 (GRCm39) F624S possibly damaging Het
Zc3h12c G T 9: 52,027,982 (GRCm39) T460K probably benign Het
Zfp865 C A 7: 5,033,416 (GRCm39) T467K probably benign Het
Zim1 A G 7: 6,680,697 (GRCm39) V322A 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
R5842: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'- TCACCCTCTTAAAGTATTTAGCTGAAG -3'
(R):5'- CGGTTAAGTGAGCTCCAACTCT -3'

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