Incidental Mutation 'R3611:Gnpda2'
ID 473165
Institutional Source Beutler Lab
Gene Symbol Gnpda2
Ensembl Gene ENSMUSG00000029209
Gene Name glucosamine-6-phosphate deaminase 2
Synonyms 4933412A11Rik, 4921523I18Rik, Gnp2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3611 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 69732344-69749684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69734752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 268 (S268P)
Ref Sequence ENSEMBL: ENSMUSP00000112484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031117] [ENSMUST00000087228] [ENSMUST00000120789] [ENSMUST00000139632] [ENSMUST00000166298] [ENSMUST00000173927]
AlphaFold Q9CRC9
Predicted Effect probably benign
Transcript: ENSMUST00000031117
SMART Domains Protein: ENSMUSP00000031117
Gene: ENSMUSG00000029209

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 7 237 2.9e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087228
SMART Domains Protein: ENSMUSP00000084480
Gene: ENSMUSG00000029208

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:GTP_EFTU 48 227 3.1e-54 PFAM
Pfam:MMR_HSR1 52 177 4.1e-6 PFAM
Pfam:Ras 83 226 2.9e-7 PFAM
Pfam:GTP_EFTU_D2 250 320 7e-10 PFAM
low complexity region 424 437 N/A INTRINSIC
EFG_C 452 538 9.13e-1 SMART
Pfam:LepA_C 540 646 1.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120789
AA Change: S268P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112484
Gene: ENSMUSG00000029209
AA Change: S268P

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 217 3.7e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125660
Predicted Effect probably benign
Transcript: ENSMUST00000139632
SMART Domains Protein: ENSMUSP00000121014
Gene: ENSMUSG00000029209

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 217 1.1e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154018
Predicted Effect probably benign
Transcript: ENSMUST00000166298
SMART Domains Protein: ENSMUSP00000128233
Gene: ENSMUSG00000029209

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 215 5.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173927
SMART Domains Protein: ENSMUSP00000133490
Gene: ENSMUSG00000029209

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 215 5.4e-22 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 G A 6: 92,846,965 (GRCm39) T521M probably benign Het
Ap1b1 A G 11: 4,974,427 (GRCm39) K345R possibly damaging Het
Arhgap26 T C 18: 39,066,972 (GRCm39) W53R probably benign Het
Brd1 A G 15: 88,585,147 (GRCm39) S896P probably benign Het
Cc2d2a A T 5: 43,869,668 (GRCm39) E856D probably damaging Het
Chd3 A G 11: 69,252,973 (GRCm39) S281P possibly damaging Het
Chl1 A G 6: 103,675,116 (GRCm39) D601G probably damaging Het
Cntn3 C A 6: 102,185,038 (GRCm39) V693L possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dsc2 A G 18: 20,165,408 (GRCm39) V855A probably damaging Het
Fat2 T C 11: 55,202,895 (GRCm39) M60V probably benign Het
Fmnl1 A G 11: 103,085,591 (GRCm39) probably benign Het
Kif18a A C 2: 109,168,941 (GRCm39) D833A probably benign Het
Kmt2a A T 9: 44,733,763 (GRCm39) probably benign Het
Lsg1 A G 16: 30,380,613 (GRCm39) V608A probably benign Het
Macir T C 1: 97,574,059 (GRCm39) E2G probably damaging Het
Mmrn2 G A 14: 34,120,632 (GRCm39) V501M probably benign Het
Or13a17 G A 7: 140,271,013 (GRCm39) C65Y probably benign Het
Ppa2 A G 3: 133,053,867 (GRCm39) T186A probably benign Het
Rims4 T A 2: 163,721,126 (GRCm39) I42F possibly damaging Het
Rnf17 A T 14: 56,705,197 (GRCm39) E700D probably benign Het
Skor2 T C 18: 76,946,533 (GRCm39) V85A unknown Het
Srbd1 T C 17: 86,410,355 (GRCm39) T526A probably benign Het
Ttn C T 2: 76,589,603 (GRCm39) R21217H probably damaging Het
Ubtfl1 T C 9: 18,320,661 (GRCm39) I63T probably damaging Het
Zfp616 A G 11: 73,974,268 (GRCm39) K270R possibly damaging Het
Zfp750 G A 11: 121,402,981 (GRCm39) P589L probably benign Het
Zfr G A 15: 12,159,848 (GRCm39) probably null Het
Other mutations in Gnpda2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0566:Gnpda2 UTSW 5 69,742,304 (GRCm39) splice site probably benign
R4549:Gnpda2 UTSW 5 69,743,872 (GRCm39) missense probably benign 0.00
R5538:Gnpda2 UTSW 5 69,735,394 (GRCm39) missense probably damaging 1.00
R8744:Gnpda2 UTSW 5 69,735,459 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14