Incidental Mutation 'IGL00091:Mptx2'
ID306512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mptx2
Ensembl Gene ENSMUSG00000079180
Gene Namemucosal pentraxin 2
SynonymsGm11062
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL00091
Quality Score
Status
Chromosome1
Chromosomal Location173274382-173277777 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 173274888 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Threonine at position 78 (N78T)
Ref Sequence ENSEMBL: ENSMUSP00000106855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059754] [ENSMUST00000111224] [ENSMUST00000213420]
Predicted Effect probably benign
Transcript: ENSMUST00000059754
SMART Domains Protein: ENSMUSP00000052418
Gene: ENSMUSG00000049605

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.6e-55 PFAM
Pfam:7tm_1 41 289 5.7e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111224
AA Change: N78T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106855
Gene: ENSMUSG00000079180
AA Change: N78T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PTX 20 219 1.93e-94 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213420
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,883,428 Y400F probably benign Het
Adamts8 C A 9: 30,953,500 T429K probably damaging Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Ano7 A T 1: 93,402,166 H775L probably benign Het
Apoo-ps A T 13: 107,414,634 noncoding transcript Het
Arid2 T C 15: 96,372,302 V1432A probably benign Het
Atoh1 T C 6: 64,729,584 S88P possibly damaging Het
C130050O18Rik A G 5: 139,414,846 E218G probably damaging Het
Cacna2d1 T A 5: 16,212,944 F155L probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cyp1a2 G T 9: 57,682,069 S154* probably null Het
Cyp3a25 A T 5: 146,001,463 Y68* probably null Het
Dmbt1 C A 7: 131,079,540 probably benign Het
Dnajc22 T A 15: 99,101,178 F81L possibly damaging Het
Eml5 G A 12: 98,873,209 probably benign Het
Fpgs A T 2: 32,686,547 probably benign Het
Gab2 T C 7: 97,302,443 S537P possibly damaging Het
Gmds G A 13: 32,234,390 S37L probably damaging Het
Ipo13 T C 4: 117,903,405 E626G probably benign Het
Kcng1 T C 2: 168,268,764 H160R probably benign Het
Lama3 A G 18: 12,580,292 T1608A probably benign Het
Lama4 A C 10: 39,072,805 S855R probably damaging Het
Ltbp1 C T 17: 75,225,338 H454Y probably damaging Het
Map3k14 C A 11: 103,227,579 G594C probably damaging Het
Mcph1 A G 8: 18,632,620 N591S possibly damaging Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Nup50 T A 15: 84,935,404 F293Y probably benign Het
Ogn A G 13: 49,621,038 Y219C probably damaging Het
Pdia3 T C 2: 121,414,178 L47P probably damaging Het
Piwil4 A T 9: 14,703,097 D786E probably damaging Het
Pspc1 A G 14: 56,771,711 L222P probably damaging Het
Ptchd3 T A 11: 121,831,146 Y282N probably damaging Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpini2 T C 3: 75,249,242 Y327C probably damaging Het
Spire2 A G 8: 123,354,059 D14G probably damaging Het
Stab2 A T 10: 86,869,206 probably null Het
Timeless T C 10: 128,241,708 L219P probably damaging Het
Tmem63a C T 1: 180,963,088 T437M probably damaging Het
Tslp A G 18: 32,815,395 probably benign Het
Ttbk2 C A 2: 120,748,833 G534* probably null Het
Uggt1 T C 1: 36,179,552 probably benign Het
Vmn2r118 T C 17: 55,592,708 E732G probably damaging Het
Zfhx2 G A 14: 55,066,565 P1321S possibly damaging Het
Zfp58 A G 13: 67,490,995 V459A probably benign Het
Zfp831 T C 2: 174,645,658 S709P possibly damaging Het
Other mutations in Mptx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01737:Mptx2 APN 1 173274841 missense probably damaging 0.99
IGL02212:Mptx2 APN 1 173274681 missense possibly damaging 0.69
IGL03185:Mptx2 APN 1 173274789 missense possibly damaging 0.68
R1772:Mptx2 UTSW 1 173274473 missense probably damaging 0.98
R2070:Mptx2 UTSW 1 173274578 nonsense probably null
R3792:Mptx2 UTSW 1 173274673 missense probably damaging 1.00
R5673:Mptx2 UTSW 1 173274847 missense probably benign 0.05
R5700:Mptx2 UTSW 1 173274847 missense probably benign 0.05
R5701:Mptx2 UTSW 1 173274847 missense probably benign 0.05
R6110:Mptx2 UTSW 1 173274847 missense probably benign 0.05
R6118:Mptx2 UTSW 1 173274847 missense probably benign 0.05
R6124:Mptx2 UTSW 1 173274847 missense probably benign 0.05
R6738:Mptx2 UTSW 1 173274855 missense probably benign 0.05
R6895:Mptx2 UTSW 1 173277685 missense probably benign
R8288:Mptx2 UTSW 1 173274789 missense probably benign 0.00
RF001:Mptx2 UTSW 1 173274969 missense probably benign 0.01
Posted On2015-04-16