Incidental Mutation 'R0834:Gnptab'
ID 77738
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 039013-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R0834 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 88214996-88283186 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88265814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 409 (V409A)
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: V409A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020251
Gene: ENSMUSG00000035311
AA Change: V409A

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
Meta Mutation Damage Score 0.3234 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 100% (86/86)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,063,899 (GRCm39) E66V probably damaging Het
Aldh1a3 T C 7: 66,062,658 (GRCm39) I156V probably benign Het
Ang4 T A 14: 52,001,725 (GRCm39) K74N probably benign Het
Arcn1 A T 9: 44,670,172 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,655,026 (GRCm39) probably benign Het
Atn1 A G 6: 124,720,188 (GRCm39) probably benign Het
Bmal2 A G 6: 146,724,185 (GRCm39) H359R probably damaging Het
Bmerb1 T C 16: 13,911,795 (GRCm39) L47P probably damaging Het
Brip1 T C 11: 86,083,653 (GRCm39) T123A probably benign Het
Camkv A G 9: 107,823,045 (GRCm39) Y95C probably damaging Het
Cdk12 T A 11: 98,095,211 (GRCm39) S340T probably benign Het
Ckap2l G A 2: 129,138,224 (GRCm39) probably benign Het
Clmn A T 12: 104,738,085 (GRCm39) L1042Q probably damaging Het
Clmn G T 12: 104,738,086 (GRCm39) L1042M probably damaging Het
Cluh T C 11: 74,554,631 (GRCm39) V737A probably benign Het
Cpne8 A G 15: 90,424,462 (GRCm39) V309A probably benign Het
Cpxm2 T A 7: 131,756,342 (GRCm39) probably benign Het
Csmd3 A T 15: 47,747,073 (GRCm39) probably benign Het
Ctr9 T A 7: 110,650,159 (GRCm39) S818T probably benign Het
Cyp26a1 C T 19: 37,688,405 (GRCm39) A309V probably damaging Het
Dbndd2 C T 2: 164,332,122 (GRCm39) T115I possibly damaging Het
Dhcr7 A G 7: 143,394,964 (GRCm39) N157S probably benign Het
Dlx2 C A 2: 71,375,859 (GRCm39) V155F probably damaging Het
Duox1 A T 2: 122,176,982 (GRCm39) I1470F probably damaging Het
Esrrb A T 12: 86,517,071 (GRCm39) I68F probably benign Het
Fhod3 T A 18: 25,248,862 (GRCm39) L1347* probably null Het
Fip1l1 T C 5: 74,755,721 (GRCm39) probably benign Het
Frem3 A G 8: 81,413,637 (GRCm39) Y1966C probably damaging Het
Gatd3a T C 10: 77,998,539 (GRCm39) D229G probably damaging Het
Ggt5 C T 10: 75,440,604 (GRCm39) R242C possibly damaging Het
Gm14496 G A 2: 181,637,480 (GRCm39) V185I probably benign Het
Gramd1a A G 7: 30,837,589 (GRCm39) F390S possibly damaging Het
Helz2 A G 2: 180,872,570 (GRCm39) S2477P probably damaging Het
Hsd17b3 T C 13: 64,236,936 (GRCm39) K3E probably benign Het
Ift172 T C 5: 31,414,715 (GRCm39) H1395R probably benign Het
Jam2 T A 16: 84,609,855 (GRCm39) C180S probably damaging Het
Kalrn A C 16: 33,870,289 (GRCm39) S160A possibly damaging Het
Kcnk3 T C 5: 30,779,979 (GRCm39) I343T probably damaging Het
Kif13a T C 13: 46,967,712 (GRCm39) E334G probably damaging Het
Klhl41 A G 2: 69,508,491 (GRCm39) K482E possibly damaging Het
Lig3 A G 11: 82,689,113 (GRCm39) E794G probably damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Ndst2 A G 14: 20,779,761 (GRCm39) Y160H probably damaging Het
Ndufb10 T C 17: 24,941,648 (GRCm39) M90V probably damaging Het
Obscn T C 11: 59,024,104 (GRCm39) K522R probably benign Het
Olfml2b T C 1: 170,475,413 (GRCm39) S113P probably benign Het
Or14a257 T A 7: 86,138,698 (GRCm39) E20D probably benign Het
Or4a78 A G 2: 89,497,423 (GRCm39) I269T probably benign Het
Or4d10b T A 19: 12,036,979 (GRCm39) M46L probably benign Het
Or51v14 T C 7: 103,261,444 (GRCm39) T39A probably benign Het
Or6k2 T A 1: 173,986,930 (GRCm39) M197K possibly damaging Het
Parg T C 14: 31,936,511 (GRCm39) probably benign Het
Pde7a C T 3: 19,284,482 (GRCm39) C367Y probably damaging Het
Pigr T A 1: 130,772,281 (GRCm39) C166* probably null Het
Pip4k2c A T 10: 127,036,704 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prkd2 A T 7: 16,599,602 (GRCm39) probably benign Het
Ptprt G T 2: 161,654,059 (GRCm39) probably null Het
Rapgef5 C T 12: 117,610,741 (GRCm39) probably benign Het
Retreg1 T C 15: 25,971,756 (GRCm39) L356P probably benign Het
Rigi T A 4: 40,239,596 (GRCm39) E34V possibly damaging Het
Rnf43 A G 11: 87,622,077 (GRCm39) T393A probably benign Het
Samd3 T C 10: 26,147,725 (GRCm39) S467P probably benign Het
Scarf1 C A 11: 75,405,229 (GRCm39) C89* probably null Het
Sdk1 T C 5: 141,227,779 (GRCm39) L59S probably benign Het
Sgca C T 11: 94,861,512 (GRCm39) W244* probably null Het
Sh3d21 T C 4: 126,045,065 (GRCm39) K538R probably benign Het
Smyd4 T A 11: 75,281,958 (GRCm39) L477Q possibly damaging Het
Sra1 A G 18: 36,801,829 (GRCm39) M87T probably benign Het
Ssh2 T C 11: 77,328,459 (GRCm39) Y336H possibly damaging Het
Steap1 T C 5: 5,790,357 (GRCm39) Y197C probably damaging Het
Strn3 A G 12: 51,673,879 (GRCm39) probably benign Het
Tgm3 A G 2: 129,868,677 (GRCm39) T205A probably benign Het
Tll2 G A 19: 41,101,512 (GRCm39) T374I probably damaging Het
Tmem63b C A 17: 45,971,870 (GRCm39) D782Y possibly damaging Het
Trim10 G A 17: 37,183,283 (GRCm39) S193N probably benign Het
Ttf1 A T 2: 28,963,962 (GRCm39) K613* probably null Het
Tube1 T A 10: 39,010,168 (GRCm39) probably null Het
Uimc1 T A 13: 55,224,222 (GRCm39) probably null Het
Wwp2 G T 8: 108,283,428 (GRCm39) probably benign Het
Zfp101 C T 17: 33,601,418 (GRCm39) V113I probably benign Het
Zfp292 T C 4: 34,809,114 (GRCm39) D1310G probably benign Het
Zfp575 A T 7: 24,285,245 (GRCm39) L132H probably damaging Het
Zmym2 T C 14: 57,194,420 (GRCm39) F1226S probably damaging Het
Zswim6 A C 13: 107,862,989 (GRCm39) noncoding transcript 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
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
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'- CCATCCTGGCTGAACCTTGACAAC -3'
(R):5'- ACCGCCTAACTGCTGACTTGGAAG -3'

Sequencing Primer
(F):5'- TCGAGTGACCATAGTGACCC -3'
(R):5'- CTTGGAAGTCAAAAATGCCTGC -3'
Posted On 2013-10-16