Incidental Mutation 'R6874:Nagpa'
ID 536337
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 045029-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6874 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 5013153-5021876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5013921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 306 (T306A)
Ref Sequence ENSEMBL: ENSMUSP00000117051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023911] [ENSMUST00000147567]
AlphaFold Q8BJ48
Predicted Effect probably benign
Transcript: ENSMUST00000023911
AA Change: T449A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023911
Gene: ENSMUSG00000023143
AA Change: T449A

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 probably benign
Transcript: ENSMUST00000147567
AA Change: T306A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117051
Gene: ENSMUSG00000023143
AA Change: T306A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,851,428 (GRCm39) D802G possibly damaging Het
Acsl5 A G 19: 55,280,295 (GRCm39) T523A probably damaging Het
Adamts7 A T 9: 90,070,784 (GRCm39) D635V probably damaging Het
Akr1c12 C A 13: 4,322,959 (GRCm39) G217C probably benign Het
Astn1 C A 1: 158,491,644 (GRCm39) S1007* probably null Het
Cntln T C 4: 84,985,996 (GRCm39) L988P probably damaging Het
Dcps A T 9: 35,087,263 (GRCm39) M1K probably null Het
Dnai1 T A 4: 41,632,412 (GRCm39) L582Q probably damaging Het
Dst A T 1: 34,328,732 (GRCm39) Q7118L probably benign Het
Ehd2 T A 7: 15,684,363 (GRCm39) T479S probably benign Het
Fbxl7 T C 15: 26,553,028 (GRCm39) I80V probably benign Het
Fry T C 5: 150,360,768 (GRCm39) V125A probably benign Het
Gm12695 A T 4: 96,673,306 (GRCm39) I31K probably benign Het
Gm5591 T C 7: 38,219,715 (GRCm39) E386G probably damaging Het
Helz G T 11: 107,554,460 (GRCm39) R1219S probably damaging Het
Hes3 G T 4: 152,371,695 (GRCm39) P85T possibly damaging Het
Igkv3-2 A T 6: 70,675,822 (GRCm39) R44* probably null Het
Igsf9 A G 1: 172,322,096 (GRCm39) T496A probably benign Het
Irf2bp1 G T 7: 18,739,142 (GRCm39) A261S possibly damaging Het
Jph2 G A 2: 163,181,407 (GRCm39) P586S probably benign Het
Klhl11 T C 11: 100,363,031 (GRCm39) H175R probably benign Het
Ksr2 G T 5: 117,894,401 (GRCm39) E847* probably null Het
Lats1 T A 10: 7,586,615 (GRCm39) Y926N probably damaging Het
Lmbr1 A T 5: 29,497,904 (GRCm39) L33H probably damaging Het
Lrp10 T C 14: 54,705,670 (GRCm39) S287P possibly damaging Het
Map3k6 G A 4: 132,977,967 (GRCm39) E976K probably benign Het
Mfsd6 T A 1: 52,699,868 (GRCm39) D760V probably benign Het
Muc16 G T 9: 18,570,065 (GRCm39) S818* probably null Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nisch G T 14: 30,898,641 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,298,964 (GRCm39) V1028A probably damaging Het
Nucb1 T C 7: 45,152,618 (GRCm39) N75S probably benign Het
Or11a4 T C 17: 37,536,238 (GRCm39) V74A probably benign Het
Or1e1d-ps1 T G 11: 73,819,068 (GRCm39) M6R probably null Het
Or51a43 T A 7: 103,717,396 (GRCm39) I281F possibly damaging Het
Or5h23 T A 16: 58,906,312 (GRCm39) Y178F probably benign Het
Or7g19 T A 9: 18,856,777 (GRCm39) Y278N possibly damaging Het
Or8b57 A G 9: 40,004,022 (GRCm39) V80A probably benign Het
Or8k24 C T 2: 86,215,872 (GRCm39) V297I possibly damaging Het
Pik3c2a A G 7: 115,993,540 (GRCm39) L409S probably damaging Het
Pkhd1l1 T A 15: 44,452,923 (GRCm39) D3949E probably benign Het
Prune2 C A 19: 17,100,592 (GRCm39) P2032Q probably damaging Het
Ptms T C 6: 124,891,194 (GRCm39) probably benign Het
Ptp4a3 A G 15: 73,595,259 (GRCm39) probably benign Het
Ptprq T C 10: 107,554,460 (GRCm39) I88M possibly damaging Het
Radil T A 5: 142,492,557 (GRCm39) D357V probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Supt20 A G 3: 54,635,175 (GRCm39) probably null Het
Thoc5 T C 11: 4,851,261 (GRCm39) I69T probably damaging Het
Trib2 G C 12: 15,865,338 (GRCm39) S79W probably damaging Het
Trpc6 A G 9: 8,680,439 (GRCm39) D889G probably damaging Het
Usf3 T C 16: 44,040,103 (GRCm39) S1528P probably benign Het
Vax1 A T 19: 59,156,955 (GRCm39) V126E unknown Het
Vgf A G 5: 137,060,386 (GRCm39) probably benign Het
Vmn2r1 T A 3: 64,012,376 (GRCm39) C746S probably damaging Het
Vmn2r77 A G 7: 86,451,286 (GRCm39) T391A probably benign Het
Zfp738 C A 13: 67,818,382 (GRCm39) E536D possibly damaging 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
R1746:Nagpa UTSW 16 5,021,503 (GRCm39) missense probably damaging 0.96
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
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'- TATCTGGAGCATGCCGTTG -3'
(R):5'- CATGAGCTAATTCCCCAGTTCC -3'

Sequencing Primer
(F):5'- GGGCAGCTCTTCAGTCCTTG -3'
(R):5'- GCTAATTCCCCAGTTCCTAAAAATG -3'
Posted On 2018-10-18