Incidental Mutation 'R5843:Mtpn'
ID450537
Institutional Source Beutler Lab
Gene Symbol Mtpn
Ensembl Gene ENSMUSG00000029840
Gene Namemyotrophin
SynonymsGcdp, V1, 5033418D15Rik
MMRRC Submission 043224-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.401) question?
Stock #R5843 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location35508906-35539888 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 35512290 bp
ZygosityHeterozygous
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]
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: 89,609,550 T93A probably damaging Het
Atp6v1h T A 1: 5,162,089 probably null Het
Ccnk T C 12: 108,193,730 V157A probably damaging Het
Cdh10 T C 15: 18,985,200 F317L possibly damaging Het
Chn1 A G 2: 73,679,748 I139T probably benign Het
Creld2 A T 15: 88,826,429 D349V probably damaging Het
Dnah3 TTCCTC TTC 7: 119,951,021 probably benign Het
Eml2 G A 7: 19,201,163 V432I probably damaging Het
Frem1 T C 4: 82,936,052 D1660G probably damaging Het
Hipk3 A C 2: 104,440,224 S470R possibly damaging Het
Hook2 T A 8: 84,991,283 I37K probably damaging Het
Hpcal1 T C 12: 17,791,199 F193L probably benign Het
Hps4 T C 5: 112,349,430 probably null Het
Iqgap1 T C 7: 80,726,080 N1349S probably benign Het
Khk A G 5: 30,921,931 I6V possibly damaging Het
Kmt2d G A 15: 98,852,109 probably benign Het
Lrch3 T C 16: 32,998,526 V629A probably damaging Het
Muc13 A G 16: 33,806,051 Y320C probably damaging Het
Olfr10 A T 11: 49,318,249 R234S probably benign Het
Olfr169 T A 16: 19,566,583 Q100L probably damaging Het
Olfr203 T A 16: 59,303,361 D69E probably damaging Het
Parpbp A G 10: 88,133,191 L131P probably damaging Het
Prl3a1 T C 13: 27,270,110 W24R probably damaging Het
Ptprk T A 10: 28,493,064 N677K probably damaging Het
Rbm39 A T 2: 156,162,873 D181E possibly damaging Het
Ros1 T C 10: 52,166,197 T220A possibly damaging Het
Slc46a3 T C 5: 147,886,211 I274V probably benign Het
Tas2r104 T A 6: 131,684,975 N257I probably damaging Het
Timeless A G 10: 128,244,244 probably null Het
Tmem63a T C 1: 180,972,833 probably null Het
Traf5 T C 1: 191,997,485 D535G possibly damaging Het
Trank1 C T 9: 111,365,860 S984L possibly damaging Het
Trpm6 A G 19: 18,856,175 T1573A probably benign Het
Ube3b T A 5: 114,412,299 I835N probably damaging Het
Wnt16 T A 6: 22,290,948 I125N probably damaging Het
Xirp2 G T 2: 67,476,785 probably benign Het
Zc3h12c G T 9: 52,116,682 T460K probably benign Het
Zfp651 T C 9: 121,767,339 F624S possibly damaging Het
Zfp865 C A 7: 5,030,417 T467K probably benign Het
Zim1 A G 7: 6,677,698 V322A possibly damaging Het
Other mutations in Mtpn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Mtpn APN 6 35522776 missense probably damaging 0.96
IGL00957:Mtpn APN 6 35539612 utr 5 prime probably benign
IGL03238:Mtpn APN 6 35522773 missense probably damaging 1.00
lamco UTSW 6 35522758 missense possibly damaging 0.65
R0972:Mtpn UTSW 6 35521976 missense probably null 0.78
R1311:Mtpn UTSW 6 35512250 missense possibly damaging 0.94
R1462:Mtpn UTSW 6 35522758 missense possibly damaging 0.65
R1462:Mtpn UTSW 6 35522758 missense possibly damaging 0.65
R3076:Mtpn UTSW 6 35521944 missense possibly damaging 0.67
R5297:Mtpn UTSW 6 35512290 missense probably benign 0.00
R5334:Mtpn UTSW 6 35512290 missense probably benign 0.00
R5336:Mtpn UTSW 6 35512290 missense probably benign 0.00
R5337:Mtpn UTSW 6 35512290 missense probably benign 0.00
R5512:Mtpn UTSW 6 35512290 missense probably benign 0.00
R5809:Mtpn UTSW 6 35512290 missense probably benign 0.00
R5841:Mtpn UTSW 6 35512290 missense probably benign 0.00
R5842:Mtpn UTSW 6 35512290 missense probably benign 0.00
R5844:Mtpn UTSW 6 35512290 missense probably benign 0.00
R5846:Mtpn UTSW 6 35512290 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCACCCTCTTAAAGTATTTAGCTGAAG -3'
(R):5'- CGGTTAAGTGAGCTCCAACTCT -3'

Sequencing Primer
(F):5'- CTGAAGAAGCTGGCAGATAGAAAGTG -3'
(R):5'- TGAATCAGATGTAAGCTCTCAGC -3'
Posted On2016-12-20