Incidental Mutation 'IGL01737:Mptx2'
ID 105743
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mptx2
Ensembl Gene ENSMUSG00000079180
Gene Name mucosal pentraxin 2
Synonyms Gm11062
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL01737
Quality Score
Status
Chromosome 1
Chromosomal Location 173102028-173105323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 173102408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 94 (V94F)
Ref Sequence ENSEMBL: ENSMUSP00000106855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059754] [ENSMUST00000111224] [ENSMUST00000213420]
AlphaFold D3YYJ7
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: V94F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106855
Gene: ENSMUSG00000079180
AA Change: V94F

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A G 13: 104,526,643 (GRCm39) I524V probably damaging Het
Atxn2 T A 5: 121,935,407 (GRCm39) M336K probably damaging Het
Bcr T A 10: 74,990,783 (GRCm39) F763Y probably damaging Het
Bdnf A G 2: 109,554,100 (GRCm39) Y158C probably damaging Het
Ccdc92 T C 5: 124,912,920 (GRCm39) E203G probably damaging Het
Cyp2j12 T C 4: 96,010,895 (GRCm39) *72W probably null Het
Def6 G T 17: 28,442,701 (GRCm39) R288L possibly damaging Het
Foxn1 T G 11: 78,251,732 (GRCm39) S500R possibly damaging Het
Gss T C 2: 155,409,726 (GRCm39) K77E probably damaging Het
Habp2 G A 19: 56,304,739 (GRCm39) G410D probably benign Het
Krt36 A T 11: 99,994,946 (GRCm39) C209S possibly damaging Het
Mmrn1 T C 6: 60,954,145 (GRCm39) F809L probably benign Het
Myh4 G T 11: 67,134,245 (GRCm39) probably benign Het
N4bp2l1 G T 5: 150,517,781 (GRCm39) H41N possibly damaging Het
Ndnf T A 6: 65,680,539 (GRCm39) S273T probably benign Het
Nt5c1b A T 12: 10,440,108 (GRCm39) Y624F possibly damaging Het
Prss8 C T 7: 127,525,752 (GRCm39) V256M probably damaging Het
Ramp1 T C 1: 91,150,821 (GRCm39) probably benign Het
Sf3b2 A G 19: 5,329,866 (GRCm39) probably benign Het
Tfdp2 G A 9: 96,182,465 (GRCm39) R235Q possibly damaging Het
Tle1 C T 4: 72,116,058 (GRCm39) probably benign Het
Tmprss11e A G 5: 86,867,593 (GRCm39) V159A probably damaging Het
Trim12c A G 7: 103,997,269 (GRCm39) C96R probably damaging Het
Usp24 A G 4: 106,244,931 (GRCm39) D1256G probably benign Het
Other mutations in Mptx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Mptx2 APN 1 173,102,455 (GRCm39) missense probably damaging 1.00
IGL02212:Mptx2 APN 1 173,102,248 (GRCm39) missense possibly damaging 0.69
IGL03185:Mptx2 APN 1 173,102,356 (GRCm39) missense possibly damaging 0.68
R1772:Mptx2 UTSW 1 173,102,040 (GRCm39) missense probably damaging 0.98
R2070:Mptx2 UTSW 1 173,102,145 (GRCm39) nonsense probably null
R3792:Mptx2 UTSW 1 173,102,240 (GRCm39) missense probably damaging 1.00
R5673:Mptx2 UTSW 1 173,102,414 (GRCm39) missense probably benign 0.05
R5700:Mptx2 UTSW 1 173,102,414 (GRCm39) missense probably benign 0.05
R5701:Mptx2 UTSW 1 173,102,414 (GRCm39) missense probably benign 0.05
R6110:Mptx2 UTSW 1 173,102,414 (GRCm39) missense probably benign 0.05
R6118:Mptx2 UTSW 1 173,102,414 (GRCm39) missense probably benign 0.05
R6124:Mptx2 UTSW 1 173,102,414 (GRCm39) missense probably benign 0.05
R6738:Mptx2 UTSW 1 173,102,422 (GRCm39) missense probably benign 0.05
R6895:Mptx2 UTSW 1 173,105,252 (GRCm39) missense probably benign
R8288:Mptx2 UTSW 1 173,102,356 (GRCm39) missense probably benign 0.00
R8737:Mptx2 UTSW 1 173,105,256 (GRCm39) missense probably benign 0.00
R8857:Mptx2 UTSW 1 173,102,452 (GRCm39) missense probably benign 0.32
R9070:Mptx2 UTSW 1 173,102,119 (GRCm39) missense probably benign 0.01
RF001:Mptx2 UTSW 1 173,102,536 (GRCm39) missense probably benign 0.01
Posted On 2014-01-21