Incidental Mutation 'IGL01969:Nagpa'
ID181628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nagpa
Ensembl Gene ENSMUSG00000023143
Gene NameN-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Synonymsalpha-GlcNAcase, UCE
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL01969
Quality Score
Status
Chromosome16
Chromosomal Location5195289-5204012 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5195889 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 362 (K362E)
Ref Sequence ENSEMBL: ENSMUSP00000117051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023911] [ENSMUST00000147567]
Predicted Effect probably benign
Transcript: ENSMUST00000023911
AA Change: K505E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000023911
Gene: ENSMUSG00000023143
AA Change: K505E

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
AA Change: K362E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117051
Gene: ENSMUSG00000023143
AA Change: K362E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156450
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 C A 8: 123,480,431 P74H probably damaging Het
Aire T A 10: 78,042,982 D77V probably damaging Het
Ank2 T A 3: 126,953,223 H571L possibly damaging Het
Apol10b T C 15: 77,588,685 probably null Het
Cacna2d2 A T 9: 107,509,216 M181L probably benign Het
Ccnl1 T C 3: 65,948,487 probably benign Het
Chd9 A G 8: 91,033,510 E1961G possibly damaging Het
Dnajc12 C A 10: 63,395,830 H42N probably damaging Het
Eml4 T C 17: 83,445,980 V248A possibly damaging Het
Epha10 A C 4: 124,885,877 K172T probably damaging Het
Fat1 T C 8: 44,952,599 Y796H probably damaging Het
Gpr176 A C 2: 118,279,637 F380L probably damaging Het
Guca1a A T 17: 47,400,343 M26K probably damaging Het
Gucy2g T G 19: 55,227,438 M501L probably benign Het
Herc2 T C 7: 56,185,831 probably benign Het
Itgav A G 2: 83,803,283 E1028G probably damaging Het
Itpr1 A G 6: 108,377,691 T179A probably damaging Het
Lpin2 A G 17: 71,231,507 T383A probably benign Het
Midn A G 10: 80,155,259 T325A probably benign Het
Mpdz A G 4: 81,358,724 Y788H probably damaging Het
Muc1 A T 3: 89,232,006 D571V probably damaging Het
Myo3a A T 2: 22,297,688 H316L probably benign Het
Ola1 G A 2: 73,100,146 A266V probably benign Het
Olfr1256 A G 2: 89,835,720 I75T probably benign Het
Olfr1447 C A 19: 12,901,052 A243S possibly damaging Het
Olfr393 T C 11: 73,847,609 N172S possibly damaging Het
Otof A G 5: 30,382,483 probably benign Het
Pi4ka A C 16: 17,378,483 V105G probably benign Het
Plppr4 G T 3: 117,328,359 T190K probably damaging Het
Pnpla3 G A 15: 84,179,224 A268T probably benign Het
Ppp6r2 C T 15: 89,275,510 H467Y probably damaging Het
Prkd2 C T 7: 16,865,757 T715M probably damaging Het
Rusc2 A G 4: 43,415,738 N348S probably benign Het
Ska3 A G 14: 57,811,662 V284A probably benign Het
Slc23a1 A T 18: 35,624,754 V199D possibly damaging Het
Slc6a13 T C 6: 121,335,642 L445P probably damaging Het
Smo A T 6: 29,755,172 probably null Het
Tmem131 A G 1: 36,825,460 L564S possibly damaging Het
Ttc23l G A 15: 10,551,434 Q69* probably null Het
Other mutations in Nagpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5225:Nagpa UTSW 16 5203732 missense probably benign 0.00
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
Posted On2014-05-07