Incidental Mutation 'R1746:Nagpa'
ID 266208
Institutional Source Beutler Lab
Gene Symbol Nagpa
Ensembl Gene ENSMUSG00000023143
Gene Name N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Synonyms alpha-GlcNAcase, UCE
MMRRC Submission 039778-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R1746 (G1)
Quality Score 23
Status Validated
Chromosome 16
Chromosomal Location 5013153-5021876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5021503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 83 (V83M)
Ref Sequence ENSEMBL: ENSMUSP00000023911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023911] [ENSMUST00000147567]
AlphaFold Q8BJ48
Predicted Effect probably damaging
Transcript: ENSMUST00000023911
AA Change: V83M

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023911
Gene: ENSMUSG00000023143
AA Change: V83M

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 0.1486 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,927,717 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aknad1 A G 3: 108,659,099 (GRCm39) T38A possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgap21 T C 2: 20,865,910 (GRCm39) E902G probably damaging Het
Atg2b A G 12: 105,635,588 (GRCm39) S227P possibly damaging Het
Atp2c2 C T 8: 120,461,182 (GRCm39) probably benign Het
Atxn10 T C 15: 85,260,864 (GRCm39) V203A probably damaging Het
Chd9 A C 8: 91,737,326 (GRCm39) E1468D probably benign Het
Cntn5 T A 9: 9,831,577 (GRCm39) D601V probably damaging Het
Col4a2 G A 8: 11,496,020 (GRCm39) G1547D probably benign Het
Cul1 A G 6: 47,485,179 (GRCm39) E270G probably damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dmgdh C A 13: 93,888,933 (GRCm39) T857K probably benign Het
Ednra T G 8: 78,398,211 (GRCm39) T279P probably benign Het
Erbin A G 13: 103,987,339 (GRCm39) I407T probably damaging Het
Fggy A G 4: 95,814,965 (GRCm39) Y440C probably damaging Het
Flrt2 A T 12: 95,747,566 (GRCm39) N635Y possibly damaging Het
Fnbp1l A G 3: 122,350,140 (GRCm39) I357T probably benign Het
Gulp1 A G 1: 44,793,513 (GRCm39) H58R possibly damaging Het
Hid1 A T 11: 115,245,464 (GRCm39) V446E probably damaging Het
Igfn1 A G 1: 135,897,561 (GRCm39) S1002P possibly damaging Het
Klri1 A G 6: 129,675,118 (GRCm39) probably null Het
Kmt2d A C 15: 98,762,259 (GRCm39) L409R probably damaging Het
Ltn1 A C 16: 87,208,669 (GRCm39) S810A possibly damaging Het
Mysm1 G A 4: 94,836,648 (GRCm39) Q721* probably null Het
Nae1 A G 8: 105,254,017 (GRCm39) V105A possibly damaging Het
Nrg2 G A 18: 36,154,975 (GRCm39) T503M probably damaging Het
Nrxn3 A G 12: 89,221,789 (GRCm39) M150V possibly damaging Het
Or5p52 C A 7: 107,502,093 (GRCm39) H56Q probably benign Het
Or8g28 A G 9: 39,169,498 (GRCm39) S157P probably damaging Het
Papola T A 12: 105,773,468 (GRCm39) D162E probably benign Het
Plxnc1 T C 10: 94,680,041 (GRCm39) probably null Het
Ppp1r16b T A 2: 158,588,585 (GRCm39) probably null Het
Ptprq T A 10: 107,474,691 (GRCm39) E1338V probably damaging Het
Puf60 G A 15: 75,942,633 (GRCm39) H437Y probably benign Het
Qsox2 C T 2: 26,110,650 (GRCm39) V189I probably benign Het
Rad51ap2 A T 12: 11,507,776 (GRCm39) D566V probably benign Het
Rb1cc1 T A 1: 6,333,237 (GRCm39) probably null Het
Rfpl4b C T 10: 38,697,049 (GRCm39) C184Y possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rundc3a GAGCC GAGCCAGCC 11: 102,291,739 (GRCm39) probably null Het
Scara5 A C 14: 65,968,539 (GRCm39) M271L probably benign Het
Sel1l2 A G 2: 140,127,157 (GRCm39) L118P probably damaging Het
Sema6a T A 18: 47,439,416 (GRCm39) probably benign Het
Siglech T A 7: 55,418,252 (GRCm39) H73Q probably benign Het
Sim1 A G 10: 50,860,205 (GRCm39) D689G probably benign Het
Skp2 T C 15: 9,139,530 (GRCm39) E55G possibly damaging Het
Slc1a1 T A 19: 28,871,869 (GRCm39) V114E probably benign Het
Slc26a6 G A 9: 108,738,916 (GRCm39) G614D probably benign Het
Sptbn2 C T 19: 4,795,992 (GRCm39) Q1724* probably null Het
Tet3 T C 6: 83,345,050 (GRCm39) T1796A probably damaging Het
Tmem117 A C 15: 94,829,714 (GRCm39) D183A possibly damaging Het
Trmt44 A G 5: 35,721,403 (GRCm39) S587P probably benign Het
Ttn G T 2: 76,619,166 (GRCm39) probably benign Het
Tubgcp5 G A 7: 55,458,285 (GRCm39) V399M probably benign Het
Txndc2 T A 17: 65,945,130 (GRCm39) D349V probably damaging Het
Uggt2 T A 14: 119,250,915 (GRCm39) N1194I probably benign Het
Vmn1r178 A T 7: 23,593,329 (GRCm39) I53L probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Other mutations in Nagpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01969:Nagpa APN 16 5,013,753 (GRCm39) missense probably benign 0.02
IGL02719:Nagpa APN 16 5,019,357 (GRCm39) missense possibly damaging 0.78
R1248:Nagpa UTSW 16 5,016,480 (GRCm39) nonsense probably null
R1465:Nagpa UTSW 16 5,019,392 (GRCm39) splice site probably benign
R2919:Nagpa UTSW 16 5,021,651 (GRCm39) start gained probably benign
R4382:Nagpa UTSW 16 5,021,819 (GRCm39) missense possibly damaging 0.53
R5011:Nagpa UTSW 16 5,013,743 (GRCm39) missense probably benign
R5013:Nagpa UTSW 16 5,013,743 (GRCm39) missense probably benign
R5207:Nagpa UTSW 16 5,017,478 (GRCm39) critical splice donor site probably null
R5225:Nagpa UTSW 16 5,021,596 (GRCm39) missense probably benign 0.00
R5327:Nagpa UTSW 16 5,017,877 (GRCm39) missense possibly damaging 0.90
R6195:Nagpa UTSW 16 5,021,613 (GRCm39) missense probably damaging 0.98
R6539:Nagpa UTSW 16 5,021,565 (GRCm39) missense possibly damaging 0.79
R6874:Nagpa UTSW 16 5,013,921 (GRCm39) missense probably benign 0.08
R8225:Nagpa UTSW 16 5,016,724 (GRCm39) missense probably damaging 1.00
R9629:Nagpa UTSW 16 5,017,829 (GRCm39) missense probably damaging 1.00
Z1176:Nagpa UTSW 16 5,021,797 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACATCAGAGACCCTTTGCCCTCTAC -3'
(R):5'- GACCGGAGCACCAATCCAATATGG -3'

Sequencing Primer
(F):5'- GTTCCATCGCGTCGGATAC -3'
(R):5'- CAATCCAATATGGCGGCG -3'
Posted On 2015-02-06