Incidental Mutation 'R8827:Mpped2'
ID 673513
Institutional Source Beutler Lab
Gene Symbol Mpped2
Ensembl Gene ENSMUSG00000016386
Gene Name metallophosphoesterase domain containing 2
Synonyms 239Fb, 2700082O15Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8827 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 106693269-106868356 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106861583 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 211 (M211T)
Ref Sequence ENSEMBL: ENSMUSP00000016530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016530] [ENSMUST00000111063] [ENSMUST00000125023]
AlphaFold Q9CZJ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000016530
AA Change: M211T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000016530
Gene: ENSMUSG00000016386
AA Change: M211T

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 3e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111063
AA Change: M211T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106692
Gene: ENSMUSG00000016386
AA Change: M211T

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 1.5e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000125023
AA Change: M211T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123267
Gene: ENSMUSG00000016386
AA Change: M211T

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 1.7e-10 PFAM
Meta Mutation Damage Score 0.2991 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
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
1700123L14Rik G T 6: 96,165,312 N250K probably benign Het
4932415D10Rik T A 10: 82,293,783 Q1131L probably benign Het
Adamts3 T C 5: 89,691,465 I810V probably benign Het
Adcy7 T C 8: 88,309,699 F128S possibly damaging Het
Ankhd1 C T 18: 36,624,580 Q188* probably null Het
Asxl2 A T 12: 3,500,501 I748L probably benign Het
Atp8b2 T C 3: 89,946,000 N70S Het
Bmp1 A G 14: 70,490,642 Y616H probably damaging Het
Brap T A 5: 121,672,198 D248E probably benign Het
Ccdc13 G A 9: 121,816,699 S294L probably benign Het
Ccdc130 T A 8: 84,260,358 Q170L possibly damaging Het
Cdkl1 T C 12: 69,747,349 Y338C probably benign Het
Cfap54 A T 10: 92,938,248 S1993T unknown Het
Chl1 G T 6: 103,693,150 M500I probably benign Het
Cntn3 G C 6: 102,269,133 L352V probably benign Het
Cog6 T C 3: 52,983,114 D635G probably benign Het
Col22a1 C A 15: 71,902,816 probably null Het
Cyp3a16 A T 5: 145,450,198 D327E probably benign Het
D6Ertd527e A T 6: 87,111,244 S130C unknown Het
Dhodh T C 8: 109,608,296 probably benign Het
Dirc2 A T 16: 35,733,950 C274S probably benign Het
Dync2li1 C T 17: 84,647,651 S246L possibly damaging Het
Eif3c A T 7: 126,558,722 F316Y probably damaging Het
Esp34 A T 17: 38,554,200 probably benign Het
Fam98a T C 17: 75,544,829 M86V possibly damaging Het
Gm29394 G T 15: 58,069,321 Q7K probably damaging Het
Gtf2i C T 5: 134,240,242 probably null Het
Hecw1 A G 13: 14,264,135 Y888H probably damaging Het
Hist3h2ba C T 11: 58,949,091 P51L probably benign Het
Kcnma1 A T 14: 23,367,480 W894R probably damaging Het
Klhl25 C A 7: 75,866,643 D432E possibly damaging Het
Klhl7 G A 5: 24,158,637 probably null Het
Lamc1 A T 1: 153,221,678 L1540Q probably damaging Het
Map3k5 T A 10: 20,026,257 V358E probably damaging Het
Map4k5 C T 12: 69,856,861 D57N possibly damaging Het
Nat9 T C 11: 115,184,513 T101A probably benign Het
Nprl3 A T 11: 32,234,742 F447L probably benign Het
Olfr1140 C T 2: 87,746,433 P79L possibly damaging Het
Olfr1184 T C 2: 88,486,821 S30P probably damaging Het
Olfr192 G A 16: 59,098,698 T98I unknown Het
Orc3 A T 4: 34,605,569 F104Y probably benign Het
Pcdha6 T A 18: 36,969,749 V665E probably damaging Het
Pdpk1 T C 17: 24,088,217 D380G probably benign Het
Phkg1 T A 5: 129,865,053 E280D probably benign Het
Pkdrej T A 15: 85,815,531 Y2068F possibly damaging Het
Plekhg5 A G 4: 152,107,005 probably benign Het
Plekhh3 G A 11: 101,167,554 P222L probably damaging Het
Prdm1 A T 10: 44,458,480 V10E probably benign Het
Prdm6 G T 18: 53,568,195 Q513H probably damaging Het
Pros1 T C 16: 62,926,464 V593A probably benign Het
Radil T C 5: 142,508,104 H250R probably damaging Het
Rasa2 C T 9: 96,552,350 R628Q probably damaging Het
Ryr2 T C 13: 11,558,048 E4884G possibly damaging Het
Shh A G 5: 28,458,127 S348P probably damaging Het
Slc1a4 A T 11: 20,320,237 probably benign Het
Slc32a1 A C 2: 158,611,354 D38A probably damaging Het
Slc35f3 TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 126,389,041 probably benign Het
Slc45a4 A T 15: 73,586,467 I411N probably benign Het
Slc7a10 C A 7: 35,197,888 S248Y probably damaging Het
Smc3 T A 19: 53,622,654 D258E probably benign Het
Sphk1 A G 11: 116,535,764 D182G probably damaging Het
Srgap3 A G 6: 112,739,341 Y633H probably damaging Het
Sspo T G 6: 48,457,672 F1033V possibly damaging Het
Syne2 T C 12: 76,048,583 V488A probably benign Het
Tead1 A C 7: 112,876,242 K299N probably damaging Het
Tmem150c A C 5: 100,092,795 S69R probably damaging Het
Tnfaip3 T A 10: 19,005,047 K424M probably damaging Het
Trib3 A G 2: 152,338,268 V335A possibly damaging Het
Ttc39c G A 18: 12,695,379 V199I probably benign Het
Vangl1 A T 3: 102,163,420 F400Y probably damaging Het
Vmn2r106 A T 17: 20,267,606 S844T probably benign Het
Wwtr1 A G 3: 57,575,195 V77A probably damaging Het
Zc3h4 C A 7: 16,429,198 P500T unknown Het
Zfand2a C T 5: 139,474,852 probably null Het
Zfr2 A G 10: 81,242,785 T284A probably benign 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
R7807:Mpped2 UTSW 2 106744740 missense possibly damaging 0.73
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'- GCGCAAACTGTGGGTGAATAC -3'
(R):5'- TGAACACCTGTAAGCCTAGC -3'

Sequencing Primer
(F):5'- TACTCGCGAGAAATGTGACAGTCC -3'
(R):5'- CGGAAGCATTGCTTGCTA -3'
Posted On 2021-07-15