Incidental Mutation 'R1443:Gnptab'
ID 158660
Institutional Source Beutler Lab
Gene Symbol Gnptab
Ensembl Gene ENSMUSG00000035311
Gene Name N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Synonyms EG432486
MMRRC Submission 039498-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R1443 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 88214996-88283186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88269943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 882 (L882P)
Ref Sequence ENSEMBL: ENSMUSP00000020251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020251] [ENSMUST00000151273]
AlphaFold Q69ZN6
Predicted Effect probably damaging
Transcript: ENSMUST00000020251
AA Change: L882P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020251
Gene: ENSMUSG00000035311
AA Change: L882P

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Stealth_CR1 73 101 6.6e-14 PFAM
Pfam:Stealth_CR2 322 429 8.8e-49 PFAM
NL 431 469 3.82e-7 SMART
low complexity region 480 490 N/A INTRINSIC
NL 498 536 2.37e-2 SMART
DMAP_binding 699 813 6.14e-38 SMART
Pfam:Stealth_CR3 934 982 2.9e-21 PFAM
Pfam:Stealth_CR4 1117 1173 7.9e-28 PFAM
transmembrane domain 1192 1214 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141343
Predicted Effect probably benign
Transcript: ENSMUST00000151273
SMART Domains Protein: ENSMUSP00000118025
Gene: ENSMUSG00000035311

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155306
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.2%
  • 20x: 85.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutations cause stunted growth, high lysosomal enzyme levels, skeletal defects, retinal degeneration and secretory cell lesions. Homozygotes for an ENU allele show skeletal and facial defects, altered enzymatic activities, lysosomal storage, Purkinje cell loss, ataxia and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,706,056 (GRCm39) M99V possibly damaging Het
Adamtsl2 T A 2: 26,993,078 (GRCm39) C703S possibly damaging Het
Afap1 G T 5: 36,126,005 (GRCm39) K333N probably damaging Het
Aldh3a2 G A 11: 61,155,133 (GRCm39) S137L probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aoc1 A T 6: 48,882,379 (GRCm39) K107M possibly damaging Het
Aoc1l1 A T 6: 48,952,849 (GRCm39) Y258F probably damaging Het
Bltp2 T A 11: 78,153,624 (GRCm39) S56R probably damaging Het
Bmp8a G T 4: 123,210,758 (GRCm39) S252R possibly damaging Het
C7 T C 15: 5,088,901 (GRCm39) I13M probably benign Het
Cblb T A 16: 51,959,974 (GRCm39) D322E possibly damaging Het
Cfap54 G A 10: 92,768,583 (GRCm39) T180I probably damaging Het
Clrn2 C T 5: 45,617,453 (GRCm39) A108V probably damaging Het
Cspg4 T A 9: 56,793,796 (GRCm39) D510E probably damaging Het
Cyp2c40 A T 19: 39,766,415 (GRCm39) N393K possibly damaging Het
Dcaf5 T C 12: 80,410,843 (GRCm39) Y294C probably damaging Het
Dclk3 T A 9: 111,298,088 (GRCm39) M544K probably benign Het
Ell3 A T 2: 121,269,946 (GRCm39) F388I probably damaging Het
Fam78b A G 1: 166,906,329 (GRCm39) I163V probably damaging Het
Herc2 A T 7: 55,854,481 (GRCm39) D3802V possibly damaging Het
Hs3st5 A G 10: 36,709,410 (GRCm39) E315G probably benign Het
Idh3b A T 2: 130,125,974 (GRCm39) probably null Het
Lama4 G A 10: 38,949,639 (GRCm39) E911K probably damaging Het
Macf1 A G 4: 123,404,800 (GRCm39) I436T probably damaging Het
Mgam C A 6: 40,736,714 (GRCm39) S871* probably null Het
Mtmr7 A G 8: 41,013,923 (GRCm39) S212P probably damaging Het
Mylk2 A G 2: 152,761,336 (GRCm39) T480A probably damaging Het
Myo3a A T 2: 22,287,437 (GRCm39) N191I probably damaging Het
Nanog C T 6: 122,688,734 (GRCm39) S105F probably damaging Het
Nanos2 A G 7: 18,721,564 (GRCm39) Y12C probably damaging Het
Nsg1 C T 5: 38,312,987 (GRCm39) V71I probably benign Het
Or10g3 A T 14: 52,610,408 (GRCm39) I34N probably damaging Het
Or13a1 T C 6: 116,471,386 (GRCm39) L272S probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or51a42 A T 7: 103,707,930 (GRCm39) I293N probably damaging Het
Or5b105 G T 19: 13,080,568 (GRCm39) Y33* probably null Het
Pcdhb17 A G 18: 37,619,701 (GRCm39) Q497R probably benign Het
Pcsk7 C A 9: 45,837,284 (GRCm39) P536Q probably damaging Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Phyhip A G 14: 70,704,731 (GRCm39) K317E probably damaging Het
Pkhd1 C T 1: 20,604,782 (GRCm39) G1178R probably damaging Het
Ppp1r9a G A 6: 5,057,557 (GRCm39) G544D probably damaging Het
Ptpn3 T C 4: 57,225,775 (GRCm39) D480G probably benign Het
Ptprn2 A T 12: 117,217,235 (GRCm39) K918N probably damaging Het
Rab42 T C 4: 132,029,658 (GRCm39) D188G probably benign Het
Rasgrf2 C A 13: 92,131,795 (GRCm39) D20Y probably damaging Het
Ryr2 G A 13: 11,794,152 (GRCm39) T942I probably benign Het
Sbpl T C 17: 24,172,328 (GRCm39) K197R unknown Het
Slc44a1 T A 4: 53,561,069 (GRCm39) V595E probably damaging Het
Slc6a19 A G 13: 73,832,463 (GRCm39) M410T probably damaging Het
Sntb1 A T 15: 55,511,351 (GRCm39) L411H probably damaging Het
Synj2 A G 17: 6,073,940 (GRCm39) K245E probably damaging Het
Tasor2 T C 13: 3,625,543 (GRCm39) K1469R probably benign Het
Tmem131 G A 1: 36,864,559 (GRCm39) T558I probably damaging Het
Tnrc18 A T 5: 142,757,288 (GRCm39) S1078T unknown Het
Trmu T A 15: 85,781,302 (GRCm39) probably null Het
Ttn A T 2: 76,721,430 (GRCm39) probably benign Het
Tyw3 T C 3: 154,293,160 (GRCm39) T172A probably benign Het
Vldlr T C 19: 27,217,121 (GRCm39) I348T possibly damaging Het
Zfp114 A G 7: 23,877,194 (GRCm39) D12G probably damaging Het
Other mutations in Gnptab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Gnptab APN 10 88,268,927 (GRCm39) missense probably damaging 0.99
IGL01346:Gnptab APN 10 88,272,041 (GRCm39) missense possibly damaging 0.65
IGL01626:Gnptab APN 10 88,273,357 (GRCm39) missense probably damaging 0.98
IGL01642:Gnptab APN 10 88,271,994 (GRCm39) missense possibly damaging 0.89
IGL02121:Gnptab APN 10 88,265,323 (GRCm39) missense possibly damaging 0.90
IGL03076:Gnptab APN 10 88,276,151 (GRCm39) missense possibly damaging 0.91
IGL03130:Gnptab APN 10 88,272,233 (GRCm39) missense possibly damaging 0.95
maze UTSW 10 88,268,435 (GRCm39) missense probably damaging 1.00
R0103:Gnptab UTSW 10 88,265,381 (GRCm39) missense probably damaging 1.00
R0103:Gnptab UTSW 10 88,265,381 (GRCm39) missense probably damaging 1.00
R0114:Gnptab UTSW 10 88,269,262 (GRCm39) missense possibly damaging 0.48
R0206:Gnptab UTSW 10 88,275,372 (GRCm39) missense probably damaging 0.98
R0288:Gnptab UTSW 10 88,268,967 (GRCm39) missense probably benign 0.00
R0329:Gnptab UTSW 10 88,276,171 (GRCm39) missense probably damaging 1.00
R0330:Gnptab UTSW 10 88,276,171 (GRCm39) missense probably damaging 1.00
R0369:Gnptab UTSW 10 88,269,456 (GRCm39) missense possibly damaging 0.87
R0385:Gnptab UTSW 10 88,272,387 (GRCm39) missense probably damaging 1.00
R0522:Gnptab UTSW 10 88,267,328 (GRCm39) splice site probably benign
R0569:Gnptab UTSW 10 88,264,419 (GRCm39) missense possibly damaging 0.89
R0671:Gnptab UTSW 10 88,279,166 (GRCm39) splice site probably benign
R0834:Gnptab UTSW 10 88,265,814 (GRCm39) missense probably damaging 1.00
R1375:Gnptab UTSW 10 88,268,435 (GRCm39) missense probably damaging 1.00
R1464:Gnptab UTSW 10 88,281,616 (GRCm39) splice site probably benign
R1471:Gnptab UTSW 10 88,281,625 (GRCm39) missense probably benign
R1570:Gnptab UTSW 10 88,255,316 (GRCm39) missense probably damaging 0.99
R1612:Gnptab UTSW 10 88,264,344 (GRCm39) splice site probably null
R1614:Gnptab UTSW 10 88,250,451 (GRCm39) missense probably benign
R1638:Gnptab UTSW 10 88,272,029 (GRCm39) missense possibly damaging 0.94
R1739:Gnptab UTSW 10 88,271,957 (GRCm39) missense probably benign 0.14
R1894:Gnptab UTSW 10 88,254,989 (GRCm39) missense possibly damaging 0.69
R2092:Gnptab UTSW 10 88,276,167 (GRCm39) nonsense probably null
R2118:Gnptab UTSW 10 88,272,260 (GRCm39) missense probably benign 0.13
R2144:Gnptab UTSW 10 88,264,368 (GRCm39) missense possibly damaging 0.89
R2174:Gnptab UTSW 10 88,269,906 (GRCm39) missense probably damaging 1.00
R3847:Gnptab UTSW 10 88,269,439 (GRCm39) nonsense probably null
R3943:Gnptab UTSW 10 88,269,756 (GRCm39) missense probably benign
R4434:Gnptab UTSW 10 88,248,484 (GRCm39) missense probably damaging 1.00
R4545:Gnptab UTSW 10 88,250,457 (GRCm39) missense probably benign 0.00
R4776:Gnptab UTSW 10 88,272,390 (GRCm39) missense probably damaging 1.00
R4786:Gnptab UTSW 10 88,272,044 (GRCm39) missense probably damaging 1.00
R4880:Gnptab UTSW 10 88,268,413 (GRCm39) nonsense probably null
R4889:Gnptab UTSW 10 88,269,775 (GRCm39) missense probably benign 0.00
R4923:Gnptab UTSW 10 88,265,485 (GRCm39) missense probably benign 0.17
R5694:Gnptab UTSW 10 88,250,348 (GRCm39) missense probably benign 0.01
R5943:Gnptab UTSW 10 88,269,376 (GRCm39) missense probably benign 0.00
R6027:Gnptab UTSW 10 88,269,087 (GRCm39) missense probably damaging 0.98
R6074:Gnptab UTSW 10 88,268,940 (GRCm39) missense probably damaging 1.00
R6119:Gnptab UTSW 10 88,267,257 (GRCm39) missense probably damaging 1.00
R6182:Gnptab UTSW 10 88,265,342 (GRCm39) missense possibly damaging 0.71
R6757:Gnptab UTSW 10 88,273,364 (GRCm39) missense probably damaging 0.98
R6910:Gnptab UTSW 10 88,267,258 (GRCm39) missense probably damaging 1.00
R6911:Gnptab UTSW 10 88,267,258 (GRCm39) missense probably damaging 1.00
R7094:Gnptab UTSW 10 88,215,366 (GRCm39) missense possibly damaging 0.66
R7101:Gnptab UTSW 10 88,276,174 (GRCm39) missense probably benign 0.19
R7164:Gnptab UTSW 10 88,269,932 (GRCm39) nonsense probably null
R7214:Gnptab UTSW 10 88,215,019 (GRCm39) unclassified probably benign
R7316:Gnptab UTSW 10 88,236,572 (GRCm39) missense probably damaging 1.00
R7463:Gnptab UTSW 10 88,267,251 (GRCm39) missense probably damaging 1.00
R7596:Gnptab UTSW 10 88,279,232 (GRCm39) missense probably damaging 0.99
R7654:Gnptab UTSW 10 88,281,681 (GRCm39) missense possibly damaging 0.63
R7722:Gnptab UTSW 10 88,215,390 (GRCm39) missense probably damaging 0.99
R7770:Gnptab UTSW 10 88,247,782 (GRCm39) missense probably benign 0.41
R7791:Gnptab UTSW 10 88,276,084 (GRCm39) critical splice acceptor site probably null
R7838:Gnptab UTSW 10 88,276,254 (GRCm39) critical splice donor site probably null
R8002:Gnptab UTSW 10 88,276,130 (GRCm39) missense probably benign 0.14
R8168:Gnptab UTSW 10 88,254,995 (GRCm39) missense probably benign 0.41
R8219:Gnptab UTSW 10 88,269,654 (GRCm39) missense probably benign
R8221:Gnptab UTSW 10 88,276,254 (GRCm39) critical splice donor site probably null
R8313:Gnptab UTSW 10 88,275,071 (GRCm39) missense probably damaging 1.00
R8351:Gnptab UTSW 10 88,250,348 (GRCm39) missense probably benign 0.01
R8487:Gnptab UTSW 10 88,268,508 (GRCm39) critical splice donor site probably null
R9108:Gnptab UTSW 10 88,269,400 (GRCm39) missense
R9352:Gnptab UTSW 10 88,268,350 (GRCm39) missense probably benign 0.05
R9489:Gnptab UTSW 10 88,268,992 (GRCm39) missense probably damaging 1.00
R9598:Gnptab UTSW 10 88,247,876 (GRCm39) missense probably damaging 0.97
R9760:Gnptab UTSW 10 88,267,310 (GRCm39) missense probably damaging 1.00
R9771:Gnptab UTSW 10 88,268,485 (GRCm39) missense probably damaging 1.00
X0064:Gnptab UTSW 10 88,272,392 (GRCm39) missense probably damaging 1.00
X0066:Gnptab UTSW 10 88,247,873 (GRCm39) missense probably damaging 0.99
Z1176:Gnptab UTSW 10 88,267,230 (GRCm39) missense probably damaging 1.00
Z1177:Gnptab UTSW 10 88,276,132 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCGTGACTGTGTCCAAAGAGAACC -3'
(R):5'- TGACCCCATGTCATCGTGAAGACC -3'

Sequencing Primer
(F):5'- TGTGTCCAAAGAGAACCTTTCAC -3'
(R):5'- TGTATATTATTagggttactggggg -3'
Posted On 2014-03-14