Incidental Mutation 'R5225:Nagpa'
ID402582
Institutional Source Beutler Lab
Gene Symbol Nagpa
Ensembl Gene ENSMUSG00000023143
Gene NameN-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Synonymsalpha-GlcNAcase, UCE
MMRRC Submission 042798-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #R5225 (G1)
Quality Score86
Status Validated
Chromosome16
Chromosomal Location5195289-5204012 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 5203732 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 52 (A52T)
Ref Sequence ENSEMBL: ENSMUSP00000023911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023911] [ENSMUST00000147567]
Predicted Effect probably benign
Transcript: ENSMUST00000023911
AA Change: A52T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023911
Gene: ENSMUSG00000023143
AA Change: A52T

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 32 47 N/A INTRINSIC
Pfam:DUF2233 131 326 5.1e-42 PFAM
EGF_like 329 359 7.09e1 SMART
EGF 362 391 1.36e1 SMART
transmembrane domain 451 473 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144490
Predicted Effect probably benign
Transcript: ENSMUST00000147567
SMART Domains Protein: ENSMUSP00000117051
Gene: ENSMUSG00000023143

DomainStartEndE-ValueType
Pfam:DUF2233 1 183 2.1e-35 PFAM
EGF_like 186 216 7.09e1 SMART
EGF 219 248 1.36e1 SMART
transmembrane domain 308 330 N/A INTRINSIC
Meta Mutation Damage Score 0.0892 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (70/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele have an increased level of acid hydrolases, however the hydrolases contain GlcNAc-P-Man diesters, exhibit a decreased affinity for the cation-independent mannose 6-phosphate receptor and fail to bind to the cation-dependent mannose 6-phosphate receptor. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,008,007 R465* probably null Het
Abcg3 A T 5: 104,966,783 D289E probably damaging Het
Ablim2 G T 5: 35,866,771 probably null Het
Acp1 A T 12: 30,905,079 V36D probably benign Het
Adgrb1 T A 15: 74,577,499 probably benign Het
Akap6 G A 12: 52,886,546 V274I probably damaging Het
Arhgap39 T C 15: 76,725,515 probably benign Het
Bmp1 G A 14: 70,480,165 R789W probably damaging Het
Cfhr2 T A 1: 139,821,782 Y154F possibly damaging Het
Cilp2 T C 8: 69,883,365 Y358C probably damaging Het
Cyp1a2 T A 9: 57,677,233 K513* probably null Het
Dennd4a G T 9: 64,888,928 K745N possibly damaging Het
Dlg1 T A 16: 31,836,267 S542T probably benign Het
Dmbt1 A T 7: 131,094,735 I893F possibly damaging Het
Dnhd1 A T 7: 105,703,923 E2761V possibly damaging Het
F11 T C 8: 45,255,304 T40A probably benign Het
Fam227a T C 15: 79,636,735 D296G possibly damaging Het
Fance C T 17: 28,315,615 probably benign Het
Gaa A G 11: 119,276,843 D149G probably damaging Het
Gapt A G 13: 110,353,988 M47T possibly damaging Het
Gm1110 T C 9: 26,902,478 N202D probably damaging Het
Gm16432 A T 1: 178,148,908 probably benign Het
Gm7535 T C 17: 17,911,547 probably benign Het
Gm973 T A 1: 59,562,700 M491K probably benign Het
Gmnc A G 16: 26,963,945 V27A probably benign Het
Kif27 T C 13: 58,293,101 T1167A possibly damaging Het
Klrg1 T A 6: 122,271,372 *189C probably null Het
Lime1 T A 2: 181,382,847 M98K probably benign Het
Lrp1 C A 10: 127,556,096 A2867S probably benign Het
Lrrd1 G A 5: 3,858,735 S669N probably benign Het
Mmel1 A G 4: 154,891,999 N520S probably damaging Het
Mrpl48 A C 7: 100,549,328 L206V probably damaging Het
Olfr1264 T G 2: 90,021,184 D294A probably benign Het
Olfr98 A G 17: 37,263,028 V212A probably benign Het
Orai2 A G 5: 136,161,501 S71P probably damaging Het
Pcbp1 A T 6: 86,525,227 I230N probably damaging Het
Pcdh15 T C 10: 74,303,154 L349P probably damaging Het
Pcdhb16 T C 18: 37,479,958 V657A probably benign Het
Prdm15 G T 16: 97,808,675 H590N probably damaging Het
Psg18 T C 7: 18,345,949 I442M probably damaging Het
Pygm C A 19: 6,389,464 D279E probably benign Het
Rrn3 T A 16: 13,792,934 probably null Het
Sass6 T C 3: 116,614,053 S273P possibly damaging Het
Schip1 A G 3: 68,494,937 M116V probably benign Het
Sdc3 G A 4: 130,818,776 V55I unknown Het
Serpinb8 T A 1: 107,597,471 M1K probably null Het
Slc24a5 T C 2: 125,085,819 I346T probably damaging Het
Slc35f3 T A 8: 126,391,107 I335N probably damaging Het
Snapc2 T A 8: 4,255,299 V147E probably damaging Het
Snx2 T C 18: 53,189,712 S56P possibly damaging Het
Sptbn5 A G 2: 120,085,331 probably benign Het
Stk19 A T 17: 34,821,424 probably benign Het
Sulf1 A G 1: 12,841,478 E692G probably benign Het
Tet1 C T 10: 62,838,671 V1209I probably damaging Het
Tln1 T C 4: 43,539,406 T1639A probably benign Het
Tmem135 G T 7: 89,196,127 Y165* probably null Het
Tmprss6 T C 15: 78,452,507 T398A probably damaging Het
Ube4a C T 9: 44,939,960 probably null Het
Vmn1r227 T C 17: 20,735,237 noncoding transcript Het
Wdhd1 T C 14: 47,250,816 S745G probably benign Het
Xylt1 A G 7: 117,592,036 H353R probably damaging Het
Zfp788 A G 7: 41,649,556 T539A probably benign Het
Zfp866 A T 8: 69,765,441 F510I possibly damaging Het
Other mutations in Nagpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01969:Nagpa APN 16 5195889 missense probably benign 0.02
IGL02719:Nagpa APN 16 5201493 missense possibly damaging 0.78
R1248:Nagpa UTSW 16 5198616 nonsense probably null
R1465:Nagpa UTSW 16 5201528 splice site probably benign
R1746:Nagpa UTSW 16 5203639 missense probably damaging 0.96
R2919:Nagpa UTSW 16 5203787 start gained probably benign
R4382:Nagpa UTSW 16 5203955 missense possibly damaging 0.53
R5011:Nagpa UTSW 16 5195879 missense probably benign
R5013:Nagpa UTSW 16 5195879 missense probably benign
R5207:Nagpa UTSW 16 5199614 critical splice donor site probably null
R5327:Nagpa UTSW 16 5200013 missense possibly damaging 0.90
R6195:Nagpa UTSW 16 5203749 missense probably damaging 0.98
R6539:Nagpa UTSW 16 5203701 missense possibly damaging 0.79
R6874:Nagpa UTSW 16 5196057 missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- AGTGCTCATGCGGAAGAAGC -3'
(R):5'- TAAGCTTCGGGTGAGTGCAG -3'

Sequencing Primer
(F):5'- GAAGAAGCCACCGTTCTGAGC -3'
(R):5'- GGTCCACCTTTCCTGAG -3'
Posted On2016-07-22