Incidental Mutation 'R7214:Gnptab'
ID 561323
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 045286-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R7214 (G1)
Quality Score 82.013
Status Not validated
Chromosome 10
Chromosomal Location 88214996-88283186 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 88215019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020251] [ENSMUST00000127615] [ENSMUST00000130301] [ENSMUST00000138159] [ENSMUST00000151273]
AlphaFold Q69ZN6
Predicted Effect probably benign
Transcript: ENSMUST00000020251
SMART Domains Protein: ENSMUSP00000020251
Gene: ENSMUSG00000035311

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 probably benign
Transcript: ENSMUST00000127615
SMART Domains Protein: ENSMUSP00000116915
Gene: ENSMUSG00000035311

DomainStartEndE-ValueType
transmembrane domain 2 24 N/A INTRINSIC
coiled coil region 71 98 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130301
SMART Domains Protein: ENSMUSP00000120643
Gene: ENSMUSG00000035311

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
coiled coil region 77 104 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138159
Predicted Effect probably benign
Transcript: ENSMUST00000151273
SMART Domains Protein: ENSMUSP00000118025
Gene: ENSMUSG00000035311

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 C T 8: 95,660,646 (GRCm39) T95I Het
Arap2 C T 5: 62,906,681 (GRCm39) V113I probably benign Het
Atraid C T 5: 31,209,590 (GRCm39) Q85* probably null Het
Bcdin3d T C 15: 99,368,344 (GRCm39) D285G probably benign Het
Bmal1 T A 7: 112,898,610 (GRCm39) I346K probably benign Het
Carmil3 T C 14: 55,736,069 (GRCm39) W604R probably damaging Het
Ccl6 C T 11: 83,480,582 (GRCm39) probably null Het
Cct4 C T 11: 22,940,616 (GRCm39) probably benign Het
Cd2ap C T 17: 43,156,285 (GRCm39) R84Q possibly damaging Het
Cdt1 T A 8: 123,295,012 (GRCm39) probably null Het
Cln3 C T 7: 126,181,942 (GRCm39) G40D probably damaging Het
Crlf3 T C 11: 79,955,216 (GRCm39) S47G possibly damaging Het
Csrp3 T C 7: 48,480,385 (GRCm39) K193R probably benign Het
Cxcl3 A C 5: 90,934,219 (GRCm39) E33A probably damaging Het
Cyp11b1 T C 15: 74,708,708 (GRCm39) D362G probably benign Het
Dnah2 T C 11: 69,321,935 (GRCm39) D3795G probably damaging Het
Dnah3 G A 7: 119,521,965 (GRCm39) A4076V probably damaging Het
Dnaja3 T A 16: 4,519,046 (GRCm39) I380N possibly damaging Het
Dock10 T A 1: 80,546,246 (GRCm39) H785L probably benign Het
Dop1b T G 16: 93,607,023 (GRCm39) F2226V possibly damaging Het
Dscaml1 A T 9: 45,581,437 (GRCm39) I419F probably benign Het
Dyrk4 T A 6: 126,862,200 (GRCm39) I431F probably benign Het
Endog C T 2: 30,062,902 (GRCm39) R181C probably damaging Het
Fam90a1a A T 8: 22,453,641 (GRCm39) Y332F probably benign Het
Fastkd3 T C 13: 68,737,499 (GRCm39) I588T probably benign Het
Galnt9 G A 5: 110,737,694 (GRCm39) V217I probably benign Het
Gm973 A T 1: 59,601,888 (GRCm39) R501* probably null Het
Gpn1 T C 5: 31,660,761 (GRCm39) F184S probably damaging Het
Imp3 G T 9: 56,845,007 (GRCm39) V73L probably benign Het
Ipo11 T C 13: 107,032,365 (GRCm39) D259G probably null Het
Jag1 T C 2: 136,948,802 (GRCm39) S142G probably benign Het
Klhl5 A T 5: 65,289,098 (GRCm39) E120V probably benign Het
Lct C A 1: 128,228,197 (GRCm39) V1099L probably benign Het
Lrba G C 3: 86,235,633 (GRCm39) W912C probably damaging Het
Lss C T 10: 76,383,305 (GRCm39) T535I probably damaging Het
Mcts2 T C 2: 152,529,297 (GRCm39) I36T probably benign Het
Meikin T A 11: 54,302,738 (GRCm39) N383K probably benign Het
Myo1g T C 11: 6,461,055 (GRCm39) Y663C probably damaging Het
Nadk2 T A 15: 9,108,342 (GRCm39) M419K probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nfat5 T C 8: 108,020,515 (GRCm39) S20P probably damaging Het
Nlrp1a C T 11: 71,014,119 (GRCm39) C377Y probably damaging Het
Nlrp9a T C 7: 26,250,463 (GRCm39) V76A probably damaging Het
Nrap C A 19: 56,366,567 (GRCm39) A341S probably benign Het
Ntng2 T C 2: 29,117,732 (GRCm39) S239G probably damaging Het
Nup188 T A 2: 30,197,566 (GRCm39) C207S possibly damaging Het
Or10a4 T C 7: 106,697,619 (GRCm39) *316R probably null Het
Or10ak7 T A 4: 118,791,146 (GRCm39) I300F possibly damaging Het
Or1j17 T C 2: 36,578,107 (GRCm39) I31T probably benign Het
Or2ag1 T C 7: 106,473,474 (GRCm39) probably benign Het
Or5b118 T A 19: 13,448,337 (GRCm39) M1K probably null Het
Or8c13 A C 9: 38,091,318 (GRCm39) V267G probably damaging Het
Or8k31-ps1 C T 2: 86,356,150 (GRCm39) V124I probably damaging Het
Pcdhgb2 C A 18: 37,823,159 (GRCm39) A50E probably damaging Het
Pgap1 A T 1: 54,582,220 (GRCm39) M209K possibly damaging Het
Plbd1 T A 6: 136,589,829 (GRCm39) D463V probably damaging Het
Plcg2 T A 8: 118,310,288 (GRCm39) I380N probably damaging Het
Pnpt1 T C 11: 29,087,285 (GRCm39) W184R probably damaging Het
Pptc7 G A 5: 122,451,840 (GRCm39) V202I probably benign Het
Prpf6 C T 2: 181,282,389 (GRCm39) A510V probably damaging Het
Prr5l T C 2: 101,559,777 (GRCm39) Y235C probably benign Het
Ptprk T C 10: 28,450,905 (GRCm39) V1022A probably benign Het
Rbl2 T C 8: 91,810,057 (GRCm39) probably null Het
Rmnd1 T C 10: 4,360,753 (GRCm39) K348E probably benign Het
Rsf1 CGGCGGC CGGCGGCGGGGGCGGC 7: 97,229,136 (GRCm39) probably benign Het
Sacs T A 14: 61,429,241 (GRCm39) N433K probably benign Het
Scyl1 T C 19: 5,810,057 (GRCm39) T590A probably benign Het
Sdhd A G 9: 50,508,533 (GRCm39) V111A possibly damaging Het
Sec24b G T 3: 129,827,509 (GRCm39) P330Q probably benign Het
Serpinb6d C T 13: 33,848,128 (GRCm39) P31S probably damaging Het
Slc26a9 A T 1: 131,687,211 (GRCm39) R457W probably damaging Het
Slc5a8 G A 10: 88,755,364 (GRCm39) M490I probably benign Het
Slx4 A G 16: 3,806,844 (GRCm39) I533T probably benign Het
Slx4ip T A 2: 136,888,650 (GRCm39) F110L probably benign Het
Smchd1 T C 17: 71,652,359 (GRCm39) R2000G probably benign Het
Snx8 T C 5: 140,346,008 (GRCm39) E75G possibly damaging Het
Stab2 C A 10: 86,735,705 (GRCm39) C1292F probably damaging Het
Swt1 A T 1: 151,270,364 (GRCm39) M617K possibly damaging Het
Thoc2l A G 5: 104,670,229 (GRCm39) T1584A probably benign Het
Tiam2 T A 17: 3,568,687 (GRCm39) I1611N possibly damaging Het
Tmem63b T G 17: 45,972,748 (GRCm39) N682T probably benign Het
Trio C T 15: 27,871,273 (GRCm39) V674M probably damaging Het
Trpc3 G A 3: 36,704,286 (GRCm39) T557M possibly damaging Het
Vac14 T G 8: 111,397,674 (GRCm39) L463R probably damaging Het
Vmn2r43 C T 7: 8,256,379 (GRCm39) probably null Het
Wdr49 A T 3: 75,265,751 (GRCm39) Y232N possibly damaging Het
Wdr90 T C 17: 26,064,367 (GRCm39) M1835V probably benign Het
Xpc T C 6: 91,469,320 (GRCm39) E809G probably damaging Het
Zfhx3 A T 8: 109,675,493 (GRCm39) Q2181L probably damaging Het
Zfp442 T C 2: 150,251,201 (GRCm39) T234A probably benign Het
Zfp764 A T 7: 127,004,450 (GRCm39) M227K probably benign Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zfp957 A G 14: 79,450,750 (GRCm39) S350P unknown Het
Zscan29 T A 2: 120,999,761 (GRCm39) K147* probably null 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
R1443:Gnptab UTSW 10 88,269,943 (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
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'- TTCATCAGGATTGCCCATTGG -3'
(R):5'- GTCTCTGCAGGAGCTTAAGC -3'

Sequencing Primer
(F):5'- GCACACTGCAGGGGACAG -3'
(R):5'- TTAAGCAGCATCACCCCGG -3'
Posted On 2019-06-26