Incidental Mutation 'R4720:Mpped2'
ID354350
Institutional Source Beutler Lab
Gene Symbol Mpped2
Ensembl Gene ENSMUSG00000016386
Gene Namemetallophosphoesterase domain containing 2
Synonyms239Fb, 2700082O15Rik
MMRRC Submission 041958-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4720 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location106693269-106868356 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106783746 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 142 (S142P)
Ref Sequence ENSEMBL: ENSMUSP00000123267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016530] [ENSMUST00000111063] [ENSMUST00000125023]
Predicted Effect probably damaging
Transcript: ENSMUST00000016530
AA Change: S142P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000016530
Gene: ENSMUSG00000016386
AA Change: S142P

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 3e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111063
AA Change: S142P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106692
Gene: ENSMUSG00000016386
AA Change: S142P

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 1.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124461
Predicted Effect probably damaging
Transcript: ENSMUST00000125023
AA Change: S142P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123267
Gene: ENSMUSG00000016386
AA Change: S142P

DomainStartEndE-ValueType
Pfam:Metallophos 58 256 1.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133401
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,127,422 I1124T probably damaging Het
Acacb A G 5: 114,229,914 T1658A possibly damaging Het
Acvrl1 C A 15: 101,135,773 P112Q probably damaging Het
Als2cr12 T C 1: 58,678,348 I135V possibly damaging Het
Ankar A T 1: 72,699,011 I4K possibly damaging Het
Ankfn1 G C 11: 89,441,426 D431E possibly damaging Het
Apobec4 T C 1: 152,756,674 V151A possibly damaging Het
Atp10b A G 11: 43,203,122 S498G probably benign Het
Azin1 A G 15: 38,493,500 V293A probably benign Het
Ccdc88b T C 19: 6,857,715 E46G probably damaging Het
Ccdc96 T C 5: 36,484,875 probably benign Het
Ccnyl1 A G 1: 64,713,131 D169G probably benign Het
Cdca3 T A 6: 124,832,164 V89E probably damaging Het
Cdh19 A T 1: 110,895,381 probably null Het
Chka G A 19: 3,886,375 V238I probably damaging Het
Cntn3 T C 6: 102,242,022 K546E possibly damaging Het
Crybg3 A G 16: 59,539,817 V787A probably damaging Het
Dlgap3 T C 4: 127,195,715 probably null Het
Dnah8 C T 17: 30,683,634 L889F probably benign Het
Dnah9 T C 11: 66,076,358 E1658G probably damaging Het
Dnajc11 A G 4: 151,968,539 D102G probably damaging Het
Dync1i2 T G 2: 71,233,674 S121A probably damaging Het
Ece1 G A 4: 137,957,175 E591K probably damaging Het
Enthd1 G A 15: 80,560,309 S15L probably damaging Het
Epb41l2 T A 10: 25,471,626 H372Q probably damaging Het
Errfi1 T A 4: 150,866,747 Y211N probably damaging Het
Fam193b G A 13: 55,543,437 T208M probably benign Het
Fmnl2 C T 2: 53,107,540 T501M possibly damaging Het
Gkn3 C T 6: 87,383,525 A163T probably damaging Het
Gm340 G C 19: 41,585,895 A1030P probably benign Het
Gm4841 G T 18: 60,270,063 D319E probably benign Het
Gm5724 C A 6: 141,723,222 A495S probably damaging Het
Gucd1 A G 10: 75,509,660 F187S probably damaging Het
Hcar2 GCGGATGCGCAC GC 5: 123,864,689 probably null Het
Helz2 T C 2: 181,238,417 D502G probably damaging Het
Hspa2 A G 12: 76,404,865 E111G possibly damaging Het
Htr2a T A 14: 74,645,059 S162T probably damaging Het
Ift80 A G 3: 68,962,290 Y223H possibly damaging Het
Il1rl1 A G 1: 40,446,678 K330E probably benign Het
Il23r A T 6: 67,423,661 F562I probably damaging Het
Isx T C 8: 74,873,859 probably null Het
Jcad G A 18: 4,674,055 V606I probably benign Het
Kcnn2 A T 18: 45,683,120 T333S possibly damaging Het
Kcnq5 C T 1: 21,403,050 A630T probably damaging Het
Kif2c T C 4: 117,171,749 M188V probably benign Het
Kntc1 T C 5: 123,765,023 V321A possibly damaging Het
Krtap4-8 A T 11: 99,780,445 probably benign Het
Lgals3bp A C 11: 118,398,469 L52R probably damaging Het
Lipk C A 19: 34,021,699 H126Q probably damaging Het
Lpgat1 T C 1: 191,763,667 Y323H probably damaging Het
Lrp2 T G 2: 69,481,173 N2654H probably damaging Het
Lsm14b C T 2: 180,027,981 Q6* probably null Het
Lysmd3 C T 13: 81,669,465 A187V possibly damaging Het
Map2k5 A G 9: 63,293,719 S211P probably damaging Het
Mlph A T 1: 90,941,697 I474F probably damaging Het
Nemf A C 12: 69,324,288 M678R probably benign Het
Nfe2l1 A T 11: 96,827,689 Y7N probably damaging Het
Nfkbie T G 17: 45,556,306 D122E probably benign Het
Noc3l C A 19: 38,789,622 A783S probably benign Het
Nol8 T C 13: 49,662,753 V761A probably damaging Het
Nvl A G 1: 181,101,587 L743P probably damaging Het
Olfr3 T A 2: 36,812,472 I207F probably benign Het
Plcb1 A G 2: 135,251,747 K160R possibly damaging Het
Plekhg3 G T 12: 76,578,322 G1313C possibly damaging Het
Plekhh1 GTCAAA G 12: 79,075,420 probably null Het
Popdc3 G A 10: 45,314,906 V38I probably benign Het
Prdx3 A T 19: 60,870,113 V114D possibly damaging Het
Prkdc T A 16: 15,667,715 S469T probably benign Het
Rbm22 G A 18: 60,564,391 R56H probably damaging Het
Reln A T 5: 22,286,896 F113I possibly damaging Het
Rims1 A G 1: 22,427,481 Y808H probably damaging Het
Rsbn1 C A 3: 103,929,020 T458N possibly damaging Het
Serpina3b A G 12: 104,130,630 S57G possibly damaging Het
Skor2 G T 18: 76,861,183 probably null Het
Slc22a4 A T 11: 53,988,893 Y447N probably damaging Het
Stx19 G T 16: 62,822,319 R166L probably damaging Het
Svep1 T C 4: 58,205,869 T170A possibly damaging Het
Sycp2 T G 2: 178,374,432 S746R probably benign Het
Tchh G T 3: 93,447,882 R1543L unknown Het
Tjp2 T C 19: 24,100,805 D908G probably damaging Het
Ttc8 C A 12: 98,979,809 A452E possibly damaging Het
Unc5a T A 13: 55,003,883 W709R probably null Het
Unc80 T A 1: 66,510,792 S736R possibly damaging Het
Vmn2r100 C A 17: 19,522,526 H387Q probably benign Het
Vmn2r39 C T 7: 9,023,470 probably null Het
Vmn2r88 T A 14: 51,413,245 D138E probably benign Het
Vwce T C 19: 10,648,467 F448L possibly damaging Het
Wdr75 C T 1: 45,822,485 S695F probably benign Het
Zfand4 T C 6: 116,288,161 probably null Het
Zfp511 T A 7: 140,037,511 probably null Het
Zfyve9 T C 4: 108,644,368 K584E possibly 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
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
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'- TGTCTGCTGATCACAGTCTTG -3'
(R):5'- AGCAGCTAAGTCCCAAAGATG -3'

Sequencing Primer
(F):5'- CTGATCACAGTCTTGGCTGTTG -3'
(R):5'- ATGAGCACTTACCAGGGT -3'
Posted On2015-10-21