Incidental Mutation 'R7807:Mpped2'
ID 600841
Institutional Source Beutler Lab
Gene Symbol Mpped2
Ensembl Gene ENSMUSG00000016386
Gene Name metallophosphoesterase domain containing 2
Synonyms 239Fb, 2700082O15Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R7807 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 106693269-106868356 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 106744740 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 57 (H57N)
Ref Sequence ENSEMBL: ENSMUSP00000016530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016530] [ENSMUST00000111063] [ENSMUST00000125023] [ENSMUST00000144155]
AlphaFold Q9CZJ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000016530
AA Change: H57N

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000016530
Gene: ENSMUSG00000016386
AA Change: H57N

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 3e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111063
AA Change: H57N

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106692
Gene: ENSMUSG00000016386
AA Change: H57N

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 1.5e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000125023
AA Change: H57N

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123267
Gene: ENSMUSG00000016386
AA Change: H57N

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 1.7e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000144155
AA Change: H57N

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114253
Gene: ENSMUSG00000016386
AA Change: H57N

DomainStartEndE-ValueType
PDB:3RL3|A 1 67 2e-43 PDB
Meta Mutation Damage Score 0.0780 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,710,865 K1092E probably damaging Het
AB124611 C A 9: 21,535,980 T146K probably benign Het
Alms1 T A 6: 85,622,976 S1595T possibly damaging Het
Ankrd44 A T 1: 54,792,476 I56N probably damaging Het
Anln C A 9: 22,360,880 V648F probably damaging Het
Arhgap29 A G 3: 122,014,332 D1053G probably benign Het
Baalc T C 15: 38,934,017 S68P probably benign Het
Begain T C 12: 109,038,930 D52G probably damaging Het
Blmh A G 11: 76,946,214 I41V probably benign Het
Bpifc T A 10: 85,976,250 I365F possibly damaging Het
C2 G T 17: 34,876,371 S199R possibly damaging Het
Ccbe1 T A 18: 66,066,757 H298L probably damaging Het
Ccdc112 T A 18: 46,290,759 K304I probably damaging Het
Ccdc15 T C 9: 37,315,382 E432G probably benign Het
Cdh13 T A 8: 118,283,855 M1K probably null Het
Cipc T C 12: 86,962,125 S253P possibly damaging Het
Clcn1 A G 6: 42,310,348 probably null Het
Clock A T 5: 76,243,135 N273K probably benign Het
Cyp19a1 T C 9: 54,166,842 D476G probably benign Het
Dnah7b A G 1: 46,214,367 I1811V probably benign Het
Fat1 C A 8: 45,041,973 T4091K probably damaging Het
Gm10340 T A 14: 3,134,925 N64K probably damaging Het
Gm12394 A C 4: 42,793,885 H82Q probably benign Het
Hectd1 G A 12: 51,745,388 R2523C probably damaging Het
Hgf A G 5: 16,577,011 H244R probably damaging Het
Hgs G T 11: 120,479,934 A567S probably damaging Het
Igdcc4 T C 9: 65,133,795 V1036A probably benign Het
Keg1 G A 19: 12,714,634 probably null Het
Klhl8 A T 5: 103,876,066 L156Q probably damaging Het
Lmln T C 16: 33,107,131 Y521H probably benign Het
Lrrc7 A G 3: 158,160,487 S1206P probably damaging Het
Mad1l1 T A 5: 140,088,786 I550F probably benign Het
Marf1 C T 16: 14,153,889 W28* probably null Het
Mfsd11 T G 11: 116,863,907 S215A probably benign Het
Mslnl A G 17: 25,746,777 M542V probably benign Het
Myh6 G T 14: 54,942,440 H1903Q probably damaging Het
Neo1 T C 9: 58,990,494 T60A probably benign Het
Npm2 T A 14: 70,652,507 probably null Het
Olfr1165-ps T C 2: 88,101,565 S141G probably benign Het
Olfr1355 T A 10: 78,879,209 S12R probably benign Het
Olfr1487 C A 19: 13,619,921 T210K probably damaging Het
Pax9 A T 12: 56,697,065 I166F possibly damaging Het
Pcsk9 A G 4: 106,463,895 S6P possibly damaging Het
Pikfyve A G 1: 65,269,942 Y1893C probably damaging Het
Pirb T C 7: 3,719,865 T43A possibly damaging Het
Pou3f1 A G 4: 124,658,281 D192G possibly damaging Het
Pus3 C G 9: 35,566,725 R418G probably damaging Het
Rexo1 C T 10: 80,550,136 V363I probably benign Het
Sdcbp A G 4: 6,393,688 T269A probably damaging Het
Sele T C 1: 164,053,893 V523A probably benign Het
Serpinb8 T A 1: 107,604,727 M183K probably damaging Het
Sh2d4a T G 8: 68,282,381 S51A probably benign Het
Siglec15 A G 18: 78,047,481 S201P probably damaging Het
Slc10a5 C T 3: 10,335,469 V44I probably benign Het
Slc16a13 A G 11: 70,220,562 V39A probably damaging Het
Slc25a13 G A 6: 6,117,164 R184W probably damaging Het
Slc35f5 T A 1: 125,584,541 D359E probably damaging Het
Slc3a1 A G 17: 85,063,943 E641G probably benign Het
Slf1 T C 13: 77,046,704 D834G probably damaging Het
Stim1 T C 7: 102,427,141 I433T probably damaging Het
Stra6 T A 9: 58,150,161 I418K probably damaging Het
Tanc2 A G 11: 105,867,654 N747S probably benign Het
Tet2 T C 3: 133,486,541 T711A possibly damaging Het
Trpm6 T C 19: 18,829,856 I988T probably benign Het
Ttc41 T A 10: 86,776,631 I1256N probably benign Het
Uba2 T C 7: 34,163,213 D100G possibly damaging Het
Vmn1r43 A G 6: 89,870,237 I89T probably benign Het
Vmn2r58 T A 7: 41,872,486 Y62F probably benign Het
Ylpm1 C T 12: 85,014,081 Q428* probably null Het
Zcrb1 T C 15: 93,391,121 D88G probably damaging Het
Zmym1 A C 4: 127,047,874 I907S probably damaging Het
Other mutations in Mpped2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Mpped2 APN 2 106864746 missense probably damaging 1.00
IGL01734:Mpped2 APN 2 106783813 missense probably damaging 1.00
IGL03031:Mpped2 APN 2 106783623 splice site probably benign
LCD18:Mpped2 UTSW 2 106721428 intron probably benign
R1446:Mpped2 UTSW 2 106783732 missense possibly damaging 0.92
R1460:Mpped2 UTSW 2 106744892 unclassified probably benign
R1857:Mpped2 UTSW 2 106783644 missense probably damaging 1.00
R1888:Mpped2 UTSW 2 106699445 missense probably benign 0.26
R1888:Mpped2 UTSW 2 106699445 missense probably benign 0.26
R1919:Mpped2 UTSW 2 106867032 missense probably damaging 1.00
R2073:Mpped2 UTSW 2 106744802 nonsense probably null
R2074:Mpped2 UTSW 2 106744802 nonsense probably null
R2075:Mpped2 UTSW 2 106744802 nonsense probably null
R2295:Mpped2 UTSW 2 106699501 missense possibly damaging 0.94
R4720:Mpped2 UTSW 2 106783746 missense probably damaging 1.00
R4851:Mpped2 UTSW 2 106699379 utr 5 prime probably benign
R5201:Mpped2 UTSW 2 106699502 missense possibly damaging 0.94
R6500:Mpped2 UTSW 2 106861580 missense probably damaging 1.00
R6603:Mpped2 UTSW 2 106866977 missense probably benign 0.06
R6994:Mpped2 UTSW 2 106699533 missense possibly damaging 0.83
R8827:Mpped2 UTSW 2 106861583 missense possibly damaging 0.94
R8878:Mpped2 UTSW 2 106744720 missense probably damaging 0.97
R8932:Mpped2 UTSW 2 106867050 missense possibly damaging 0.84
R9024:Mpped2 UTSW 2 106783698 missense probably benign 0.12
R9207:Mpped2 UTSW 2 106866974 missense probably benign 0.15
Z1177:Mpped2 UTSW 2 106744803 missense probably damaging 1.00
Z1177:Mpped2 UTSW 2 106861592 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTAGATGAAGGATGCTCTCTTC -3'
(R):5'- GTTAATTGGGGCCGCTAGAAC -3'

Sequencing Primer
(F):5'- ATATCCCCGAGGTGTCCC -3'
(R):5'- GGCCGCTAGAACGCAATCATTC -3'
Posted On 2019-11-26