Incidental Mutation 'R5524:Gnpda1'
ID 431788
Institutional Source Beutler Lab
Gene Symbol Gnpda1
Ensembl Gene ENSMUSG00000052102
Gene Name glucosamine-6-phosphate deaminase 1
Synonyms Gnpi, glucose-6-phosphate isomerase, Gnp1, oscillin
MMRRC Submission 043082-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5524 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 38460588-38472052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 38468161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 45 (P45Q)
Ref Sequence ENSEMBL: ENSMUSP00000115359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063814] [ENSMUST00000139885]
AlphaFold O88958
Predicted Effect probably damaging
Transcript: ENSMUST00000063814
AA Change: P45Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069081
Gene: ENSMUSG00000052102
AA Change: P45Q

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 8 237 3.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129062
Predicted Effect probably damaging
Transcript: ENSMUST00000139885
AA Change: P45Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115359
Gene: ENSMUSG00000052102
AA Change: P45Q

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 11 124 1.3e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153291
Meta Mutation Damage Score 0.9083 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
Validation Efficiency 100% (76/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010L04Rik T A 7: 82,503,150 (GRCm39) noncoding transcript Het
6030469F06Rik A G 12: 31,234,862 (GRCm39) noncoding transcript Het
A830031A19Rik T A 11: 24,008,776 (GRCm39) I13F unknown Het
Acsbg2 A C 17: 57,157,197 (GRCm39) L309R probably damaging Het
Adam32 A T 8: 25,412,328 (GRCm39) M76K probably damaging Het
Adamts14 C A 10: 61,066,222 (GRCm39) R297L probably damaging Het
Agbl5 G A 5: 31,051,247 (GRCm39) probably null Het
Asb14 A G 14: 26,622,408 (GRCm39) K80E possibly damaging Het
Baiap2l1 T C 5: 144,217,759 (GRCm39) T276A probably benign Het
Cacna1d G A 14: 29,764,086 (GRCm39) P2127S probably benign Het
Ces2g A G 8: 105,693,527 (GRCm39) T403A probably benign Het
Cgn A C 3: 94,687,299 (GRCm39) M1R probably null Het
Chd5 T G 4: 152,461,087 (GRCm39) S1226A probably benign Het
Col18a1 A G 10: 76,894,558 (GRCm39) V1497A probably damaging Het
Cpd A T 11: 76,688,727 (GRCm39) Y848* probably null Het
Cyp2a12 T C 7: 26,730,656 (GRCm39) V207A probably benign Het
Cyth1 G A 11: 118,073,593 (GRCm39) R247W probably benign Het
Derl3 T C 10: 75,730,324 (GRCm39) V129A possibly damaging Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Eml1 A T 12: 108,487,635 (GRCm39) I518L probably damaging Het
Eri1 A G 8: 35,945,763 (GRCm39) V174A probably benign Het
Fgd3 T A 13: 49,431,053 (GRCm39) I435F probably damaging Het
Foxd1 T G 13: 98,492,412 (GRCm39) S429A unknown Het
Ftcd T A 10: 76,425,165 (GRCm39) probably benign Het
Gm5478 G T 15: 101,553,102 (GRCm39) N323K probably benign Het
Kif20a G T 18: 34,763,678 (GRCm39) probably null Het
Klrb1 T C 6: 128,689,296 (GRCm39) probably null Het
Lcorl C A 5: 45,932,864 (GRCm39) probably null Het
Lcorl T A 5: 45,932,865 (GRCm39) probably null Het
Lrp1b T A 2: 41,000,900 (GRCm39) K2108M probably damaging Het
Lyst C T 13: 13,921,364 (GRCm39) P3437S probably benign Het
Macrod2 A T 2: 142,159,863 (GRCm39) M349L possibly damaging Het
Marchf7 T C 2: 60,075,647 (GRCm39) probably benign Het
Mcm9 A T 10: 53,424,786 (GRCm39) C601* probably null Het
Muc19 G T 15: 91,778,587 (GRCm39) noncoding transcript Het
Mycbp2 T C 14: 103,532,673 (GRCm39) D427G probably damaging Het
Nap1l5 C A 6: 58,883,763 (GRCm39) V64L possibly damaging Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Npas3 T C 12: 54,115,721 (GRCm39) V863A possibly damaging Het
Nr2c2 T A 6: 92,116,746 (GRCm39) probably null Het
Oosp3 T C 19: 11,682,794 (GRCm39) F56S possibly damaging Het
Or1a1b A T 11: 74,097,409 (GRCm39) L211Q probably damaging Het
Or5k17 C T 16: 58,746,172 (GRCm39) C254Y probably benign Het
Or8g20 C T 9: 39,396,283 (GRCm39) V89M probably damaging Het
Plgrkt G A 19: 29,327,850 (GRCm39) P78S probably damaging Het
Prss36 G A 7: 127,533,637 (GRCm39) Q56* probably null Het
Ptprz1 A G 6: 22,986,317 (GRCm39) probably null Het
Qsox2 A T 2: 26,107,699 (GRCm39) F265I probably damaging Het
R3hcc1l G T 19: 42,552,307 (GRCm39) E435* probably null Het
Shbg T C 11: 69,507,588 (GRCm39) D163G probably benign Het
Skint7 T A 4: 111,837,546 (GRCm39) L108H probably damaging Het
Smtnl1 T A 2: 84,649,238 (GRCm39) E5D probably benign Het
Spock1 C T 13: 57,704,608 (GRCm39) G120D probably damaging Het
Stk11ip G T 1: 75,508,971 (GRCm39) C700F probably damaging Het
Sult4a1 C T 15: 83,974,159 (GRCm39) probably null Het
Syngap1 A G 17: 27,176,126 (GRCm39) H138R probably damaging Het
Tdrd7 A G 4: 46,034,301 (GRCm39) K1016E probably benign Het
Tmem167b T C 3: 108,467,569 (GRCm39) K26E possibly damaging Het
Tnfaip3 A G 10: 18,883,943 (GRCm39) S146P probably damaging Het
Ttn C T 2: 76,607,060 (GRCm39) V16242I possibly damaging Het
Vmn2r-ps3 T A 3: 63,960,870 (GRCm39) noncoding transcript Het
Vps13c T C 9: 67,864,838 (GRCm39) F3049S probably damaging Het
Vstm2l T C 2: 157,777,355 (GRCm39) W78R probably damaging Het
Wbp1l C A 19: 46,642,695 (GRCm39) A216D possibly damaging Het
Zer1 C G 2: 29,994,866 (GRCm39) V510L probably damaging Het
Zfp28 A T 7: 6,397,850 (GRCm39) probably null Het
Zfp352 C A 4: 90,113,341 (GRCm39) P494T possibly damaging Het
Zfp353-ps A G 8: 42,535,600 (GRCm39) noncoding transcript Het
Zfp563 A T 17: 33,321,515 (GRCm39) probably null Het
Zim1 T C 7: 6,680,320 (GRCm39) N448D probably benign Het
Other mutations in Gnpda1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1564:Gnpda1 UTSW 18 38,471,142 (GRCm39) critical splice donor site probably null
R1771:Gnpda1 UTSW 18 38,466,380 (GRCm39) missense probably benign 0.00
R1917:Gnpda1 UTSW 18 38,466,243 (GRCm39) splice site probably null
R1918:Gnpda1 UTSW 18 38,466,243 (GRCm39) splice site probably null
R1919:Gnpda1 UTSW 18 38,466,243 (GRCm39) splice site probably null
R2108:Gnpda1 UTSW 18 38,466,243 (GRCm39) splice site probably null
R5090:Gnpda1 UTSW 18 38,465,146 (GRCm39) missense probably damaging 0.98
R7843:Gnpda1 UTSW 18 38,461,952 (GRCm39) missense probably benign
R8177:Gnpda1 UTSW 18 38,466,348 (GRCm39) missense possibly damaging 0.94
R8794:Gnpda1 UTSW 18 38,465,091 (GRCm39) missense probably benign 0.06
R9577:Gnpda1 UTSW 18 38,463,605 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCAGTTTATAGCTGGGCAAG -3'
(R):5'- GATGCTAACCCGTGACTTCTG -3'

Sequencing Primer
(F):5'- TGGGCAAGCACCAATAAGC -3'
(R):5'- GGAGACCCTCAGAGTCCTGTC -3'
Posted On 2016-10-05