Incidental Mutation 'R0566:Gnpda2'
ID 46178
Institutional Source Beutler Lab
Gene Symbol Gnpda2
Ensembl Gene ENSMUSG00000029209
Gene Name glucosamine-6-phosphate deaminase 2
Synonyms 4933412A11Rik, 4921523I18Rik, Gnp2
MMRRC Submission 038757-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0566 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 69732344-69749684 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 69742304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031117] [ENSMUST00000120789] [ENSMUST00000139632] [ENSMUST00000153536] [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: ENSMUST00000120789
SMART Domains Protein: ENSMUSP00000112484
Gene: ENSMUSG00000029209

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 217 3.7e-26 PFAM
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 probably benign
Transcript: ENSMUST00000153536
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 96% (24/25)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 T C 8: 123,508,266 (GRCm39) L254P possibly damaging Het
Adamts6 C A 13: 104,581,435 (GRCm39) A850E probably benign Het
Ccdc112 A C 18: 46,423,877 (GRCm39) V287G probably damaging Het
Ctbp2 A G 7: 132,592,876 (GRCm39) V811A probably damaging Het
Dchs1 A G 7: 105,408,402 (GRCm39) V1810A probably benign Het
Dhx15 T G 5: 52,328,767 (GRCm39) K287T probably damaging Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Fryl T C 5: 73,221,840 (GRCm39) probably benign Het
Mto1 T C 9: 78,355,583 (GRCm39) F2S possibly damaging Het
Nlrp1a A G 11: 71,013,768 (GRCm39) L494P probably benign Het
Or2r2 T A 6: 42,464,025 (GRCm39) Y34F probably damaging Het
Paqr8 C A 1: 21,005,687 (GRCm39) H280Q possibly damaging Het
Perm1 A T 4: 156,302,316 (GRCm39) M287L probably benign Het
Piwil2 A G 14: 70,647,843 (GRCm39) V323A probably damaging Het
Pon3 A G 6: 5,232,408 (GRCm39) V131A possibly damaging Het
Prima1 C A 12: 103,163,573 (GRCm39) A133S probably benign Het
Prl7c1 A G 13: 27,962,961 (GRCm39) L14P probably damaging Het
Prr23a2 T A 9: 98,739,041 (GRCm39) L133H possibly damaging Het
Samd3 T C 10: 26,120,396 (GRCm39) V157A possibly damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Tep1 A T 14: 51,082,871 (GRCm39) probably null Het
Tmem208 T C 8: 106,061,475 (GRCm39) V167A probably benign Het
Tnrc6a A T 7: 122,770,136 (GRCm39) N642I probably benign Het
Vps26a A G 10: 62,316,325 (GRCm39) probably benign Het
Zfp112 T C 7: 23,825,102 (GRCm39) S357P probably benign Het
Other mutations in Gnpda2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3611:Gnpda2 UTSW 5 69,734,752 (GRCm39) missense 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 PCR Primer
(F):5'- ACACGCAGGACGATGACCTGAA -3'
(R):5'- GTTGGTGTAGAAATATGAGGTGGCACAT -3'

Sequencing Primer
(F):5'- GCAATGTGTTAACTGTGGCAATC -3'
(R):5'- TCCTATTTAGGACTTCCAAGAAACC -3'
Posted On 2013-06-11