Incidental Mutation 'R1857:Mpped2'
ID 206202
Institutional Source Beutler Lab
Gene Symbol Mpped2
Ensembl Gene ENSMUSG00000016386
Gene Name metallophosphoesterase domain containing 2
Synonyms 239Fb, 2700082O15Rik
MMRRC Submission 039881-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1857 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 106523614-106698701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106613989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 108 (Y108H)
Ref Sequence ENSEMBL: ENSMUSP00000106692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016530] [ENSMUST00000111063] [ENSMUST00000125023]
AlphaFold Q9CZJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000016530
AA Change: Y108H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000016530
Gene: ENSMUSG00000016386
AA Change: Y108H

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 3e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111063
AA Change: Y108H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106692
Gene: ENSMUSG00000016386
AA Change: Y108H

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 1.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124461
Predicted Effect probably benign
Transcript: ENSMUST00000125023
AA Change: Y108H

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123267
Gene: ENSMUSG00000016386
AA Change: Y108H

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 1.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133401
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,766,789 (GRCm39) I57N probably damaging Het
Abca15 T C 7: 119,960,592 (GRCm39) S685P probably damaging Het
Adpgk G T 9: 59,222,248 (GRCm39) V392L probably benign Het
Akap14 C T X: 36,420,779 (GRCm39) A476T probably damaging Het
Amdhd1 A T 10: 93,367,416 (GRCm39) I246N probably damaging Het
Amhr2 T A 15: 102,355,212 (GRCm39) L165* probably null Het
Atr T A 9: 95,747,150 (GRCm39) I144N probably damaging Het
Ccdc33 T C 9: 57,939,991 (GRCm39) N750S possibly damaging Het
Cdh23 A G 10: 60,159,076 (GRCm39) I2233T probably damaging Het
Cfap46 C A 7: 139,233,324 (GRCm39) V774F probably damaging Het
Cfap69 G T 5: 5,632,518 (GRCm39) T362K possibly damaging Het
Cnih3 A G 1: 181,277,638 (GRCm39) H101R probably damaging Het
Crebrf T A 17: 26,961,937 (GRCm39) Y345N probably benign Het
Cyb5r4 C T 9: 86,923,332 (GRCm39) S185L probably benign Het
Cyp2j5 T C 4: 96,547,723 (GRCm39) E173G possibly damaging Het
Cyp3a41b T A 5: 145,503,660 (GRCm39) I296F probably benign Het
Dse T C 10: 34,029,225 (GRCm39) T622A probably benign Het
Duxf4 A G 10: 58,071,602 (GRCm39) V204A probably benign Het
Dync1h1 T A 12: 110,629,059 (GRCm39) F4205L probably damaging Het
Eif3a A C 19: 60,770,635 (GRCm39) L71V probably damaging Het
Eif3h T C 15: 51,662,674 (GRCm39) Y124C probably damaging Het
Eif4g3 A T 4: 137,903,187 (GRCm39) Q1169L possibly damaging Het
Endod1 T A 9: 14,268,405 (GRCm39) H360L probably benign Het
Fbxo38 A G 18: 62,648,489 (GRCm39) I683T probably damaging Het
Frem2 T A 3: 53,562,294 (GRCm39) T738S probably benign Het
Gm1527 A T 3: 28,957,539 (GRCm39) T148S probably damaging Het
Gm4894 T C 9: 49,189,976 (GRCm39) S84P unknown Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Il1f10 A T 2: 24,182,817 (GRCm39) D31V possibly damaging Het
Lrrc56 A G 7: 140,787,421 (GRCm39) M353V probably benign Het
Meiob T C 17: 25,042,544 (GRCm39) V124A probably damaging Het
Mmp11 A T 10: 75,764,191 (GRCm39) D91E probably benign Het
Mroh9 A G 1: 162,866,714 (GRCm39) V674A probably damaging Het
Mtor G T 4: 148,565,336 (GRCm39) Q1015H probably damaging Het
Mylk3 G A 8: 86,055,223 (GRCm39) T711I probably damaging Het
Ndufaf6 G T 4: 11,053,474 (GRCm39) H277Q probably benign Het
Neurl4 G T 11: 69,796,361 (GRCm39) G435V probably damaging Het
Nipal2 A G 15: 34,678,779 (GRCm39) S21P possibly damaging Het
Nphp1 T A 2: 127,612,296 (GRCm39) D217V probably benign Het
Nphp3 T C 9: 103,898,493 (GRCm39) I432T possibly damaging Het
Oprd1 T G 4: 131,840,992 (GRCm39) D322A probably damaging Het
Or10ag2 T C 2: 87,248,992 (GRCm39) L198P probably damaging Het
Or2b28 A G 13: 21,531,346 (GRCm39) M83V possibly damaging Het
Or56a3b T G 7: 104,770,751 (GRCm39) L29R probably benign Het
Pcdh10 C A 3: 45,334,372 (GRCm39) Q229K possibly damaging Het
Pdlim7 G A 13: 55,653,858 (GRCm39) T253M probably damaging Het
Pfdn1 C A 18: 36,584,153 (GRCm39) M60I probably benign Het
Pigc T G 1: 161,798,446 (GRCm39) S143A possibly damaging Het
Pkd1l2 T C 8: 117,767,408 (GRCm39) D1294G possibly damaging Het
Ppp2r1a T C 17: 21,181,951 (GRCm39) S490P possibly damaging Het
Ppp2r3d T A 9: 101,090,092 (GRCm39) N77I probably damaging Het
Pramel17 T C 4: 101,692,770 (GRCm39) Y410C probably damaging Het
Pramel29 C T 4: 143,935,091 (GRCm39) V217I possibly damaging Het
Prl7a2 A T 13: 27,843,163 (GRCm39) C213* probably null Het
Prpf8 T A 11: 75,386,249 (GRCm39) probably null Het
Psmd7 A T 8: 108,311,525 (GRCm39) N109K probably damaging Het
Ptprn T C 1: 75,224,549 (GRCm39) K936E possibly damaging Het
Ro60 T C 1: 143,646,488 (GRCm39) T86A probably benign Het
Ror1 A T 4: 100,298,700 (GRCm39) Q691L probably damaging Het
Sars2 A G 7: 28,449,437 (GRCm39) M322V probably benign Het
Scfd2 C A 5: 74,372,962 (GRCm39) E638* probably null Het
Scgb3a2 A G 18: 43,899,900 (GRCm39) T63A probably benign Het
Slc5a4a T C 10: 76,002,569 (GRCm39) S242P probably benign Het
Smarcd1 A G 15: 99,607,295 (GRCm39) K382E probably damaging Het
Sox5 T A 6: 143,906,541 (GRCm39) S305C probably damaging Het
Sp5 C A 2: 70,307,213 (GRCm39) H299Q possibly damaging Het
Stard13 T C 5: 151,018,903 (GRCm39) Y60C probably damaging Het
Tmprss6 A G 15: 78,336,752 (GRCm39) F383L probably damaging Het
Ttc23 T C 7: 67,328,821 (GRCm39) probably null Het
Ugt2b34 T C 5: 87,052,241 (GRCm39) T252A possibly damaging Het
Vangl2 A T 1: 171,837,464 (GRCm39) L115Q probably damaging Het
Vmn1r42 A G 6: 89,821,597 (GRCm39) I324T probably benign Het
Vwa5b1 A G 4: 138,296,413 (GRCm39) F1205L probably damaging Het
Zfp951 G C 5: 104,962,723 (GRCm39) T281R probably damaging Het
Zscan30 A G 18: 24,104,524 (GRCm39) noncoding transcript Het
Other mutations in Mpped2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Mpped2 APN 2 106,695,091 (GRCm39) missense probably damaging 1.00
IGL01734:Mpped2 APN 2 106,614,158 (GRCm39) missense probably damaging 1.00
IGL03031:Mpped2 APN 2 106,613,968 (GRCm39) splice site probably benign
LCD18:Mpped2 UTSW 2 106,551,773 (GRCm39) intron probably benign
R1446:Mpped2 UTSW 2 106,614,077 (GRCm39) missense possibly damaging 0.92
R1460:Mpped2 UTSW 2 106,575,237 (GRCm39) unclassified probably benign
R1888:Mpped2 UTSW 2 106,529,790 (GRCm39) missense probably benign 0.26
R1888:Mpped2 UTSW 2 106,529,790 (GRCm39) missense probably benign 0.26
R1919:Mpped2 UTSW 2 106,697,377 (GRCm39) missense probably damaging 1.00
R2073:Mpped2 UTSW 2 106,575,147 (GRCm39) nonsense probably null
R2074:Mpped2 UTSW 2 106,575,147 (GRCm39) nonsense probably null
R2075:Mpped2 UTSW 2 106,575,147 (GRCm39) nonsense probably null
R2295:Mpped2 UTSW 2 106,529,846 (GRCm39) missense possibly damaging 0.94
R4720:Mpped2 UTSW 2 106,614,091 (GRCm39) missense probably damaging 1.00
R4851:Mpped2 UTSW 2 106,529,724 (GRCm39) utr 5 prime probably benign
R5201:Mpped2 UTSW 2 106,529,847 (GRCm39) missense possibly damaging 0.94
R6500:Mpped2 UTSW 2 106,691,925 (GRCm39) missense probably damaging 1.00
R6603:Mpped2 UTSW 2 106,697,322 (GRCm39) missense probably benign 0.06
R6994:Mpped2 UTSW 2 106,529,878 (GRCm39) missense possibly damaging 0.83
R7807:Mpped2 UTSW 2 106,575,085 (GRCm39) missense possibly damaging 0.73
R8827:Mpped2 UTSW 2 106,691,928 (GRCm39) missense possibly damaging 0.94
R8878:Mpped2 UTSW 2 106,575,065 (GRCm39) missense probably damaging 0.97
R8932:Mpped2 UTSW 2 106,697,395 (GRCm39) missense possibly damaging 0.84
R9024:Mpped2 UTSW 2 106,614,043 (GRCm39) missense probably benign 0.12
R9207:Mpped2 UTSW 2 106,697,319 (GRCm39) missense probably benign 0.15
Z1177:Mpped2 UTSW 2 106,691,937 (GRCm39) missense probably damaging 1.00
Z1177:Mpped2 UTSW 2 106,575,148 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGAGCTTCCTGTTTCCCG -3'
(R):5'- GGTTACCTCTGAATCTTGCAAG -3'

Sequencing Primer
(F):5'- TTTTGGTAGCATAAAAGAGTAGCC -3'
(R):5'- CCTCTGAATCTTGCAAGTAAATACTG -3'
Posted On 2014-06-23