Incidental Mutation 'R8744:Gnpda2'
ID 663416
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 # R8744 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 69732344-69749684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69735459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 211 (A211T)
Ref Sequence ENSEMBL: ENSMUSP00000031117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031117] [ENSMUST00000120789] [ENSMUST00000139632] [ENSMUST00000166298] [ENSMUST00000173927]
AlphaFold Q9CRC9
Predicted Effect probably damaging
Transcript: ENSMUST00000031117
AA Change: A211T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031117
Gene: ENSMUSG00000029209
AA Change: A211T

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 7 237 2.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120789
AA Change: A211T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112484
Gene: ENSMUSG00000029209
AA Change: A211T

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 217 3.7e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000139632
AA Change: A211T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121014
Gene: ENSMUSG00000029209
AA Change: A211T

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 217 1.1e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166298
AA Change: A209T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128233
Gene: ENSMUSG00000029209
AA Change: A209T

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 215 5.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173927
AA Change: A209T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133490
Gene: ENSMUSG00000029209
AA Change: A209T

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 215 5.4e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 98% (64/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik C A 11: 58,182,260 (GRCm39) probably null Het
Adam2 A G 14: 66,272,165 (GRCm39) probably null Het
Akt2 A T 7: 27,317,738 (GRCm39) D94V probably benign Het
Anapc7 C T 5: 122,566,211 (GRCm39) S40L probably benign Het
Ash1l G T 3: 88,965,890 (GRCm39) A2431S possibly damaging Het
Atoh1 A T 6: 64,706,902 (GRCm39) Q199L probably damaging Het
Atp10b T C 11: 43,121,177 (GRCm39) C947R probably damaging Het
Ccdc50 G A 16: 27,255,148 (GRCm39) V199I possibly damaging Het
Ccne1 A T 7: 37,802,598 (GRCm39) C65S probably benign Het
Cep152 A G 2: 125,436,791 (GRCm39) probably null Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Cyp4a10 A G 4: 115,386,667 (GRCm39) D438G probably benign Het
Dgkb A G 12: 38,488,611 (GRCm39) H659R probably damaging Het
Dhx29 A G 13: 113,089,418 (GRCm39) I730V possibly damaging Het
Dync2h1 G A 9: 7,011,220 (GRCm39) Q3658* probably null Het
Eif2ak4 C A 2: 118,261,474 (GRCm39) C671* probably null Het
Eif4g3 AGCGGCGGCGGCGGCGGC AGCGGCGGCGGCGGC 4: 137,721,372 (GRCm39) probably benign Het
Ep400 T C 5: 110,889,925 (GRCm39) H446R unknown Het
Epb41l2 C T 10: 25,317,725 (GRCm39) L81F probably damaging Het
Ercc8 G A 13: 108,320,307 (GRCm39) A298T probably benign Het
Fbxo10 T C 4: 45,043,880 (GRCm39) M648V probably benign Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Hormad1 T C 3: 95,469,926 (GRCm39) Y58H possibly damaging Het
Igkv4-81 T C 6: 68,968,046 (GRCm39) I18M possibly damaging Het
Itgav G T 2: 83,600,427 (GRCm39) A312S probably benign Het
Itpr1 G T 6: 108,354,763 (GRCm39) A457S possibly damaging Het
Kcna10 T C 3: 107,101,702 (GRCm39) L111P probably damaging Het
Kcnh7 T C 2: 63,012,433 (GRCm39) R92G possibly damaging Het
Lamc2 G A 1: 153,019,484 (GRCm39) P486S probably benign Het
Lrba C T 3: 86,211,640 (GRCm39) T420M probably benign Het
Lrrc52 G A 1: 167,294,150 (GRCm39) T45M probably benign Het
Lsm8 C A 6: 18,853,638 (GRCm39) A80E probably benign Het
Ly6g T A 15: 75,027,518 (GRCm39) S9T probably benign Het
Mcc A G 18: 44,857,639 (GRCm39) Y159H probably benign Het
Megf11 T C 9: 64,451,970 (GRCm39) probably null Het
Mrpl9 T A 3: 94,355,082 (GRCm39) probably benign Het
Ndst4 T C 3: 125,506,989 (GRCm39) F210L possibly damaging Het
Or13l2 A G 3: 97,317,597 (GRCm39) V300A probably benign Het
Or5d40 T A 2: 88,015,723 (GRCm39) C167* probably null Het
Pappa2 A G 1: 158,611,487 (GRCm39) V1492A possibly damaging Het
Pcdhga2 A G 18: 37,804,373 (GRCm39) H739R probably benign Het
Pcdhga8 A G 18: 37,860,827 (GRCm39) T628A probably damaging Het
Plekhn1 C T 4: 156,318,364 (GRCm39) R86H probably damaging Het
Pofut1 T A 2: 153,101,461 (GRCm39) W72R probably benign Het
Polr3b C A 10: 84,464,488 (GRCm39) probably benign Het
Rab3b A T 4: 108,781,184 (GRCm39) I104F probably damaging Het
Rab5b A T 10: 128,518,751 (GRCm39) V127D probably damaging Het
Rnf170 A G 8: 26,619,408 (GRCm39) M211V unknown Het
Rpl7 T C 1: 16,172,113 (GRCm39) T218A probably benign Het
Serinc2 T C 4: 130,158,988 (GRCm39) probably benign Het
Socs2 T A 10: 95,228,662 (GRCm39) Q196L Het
Stab2 T C 10: 86,805,213 (GRCm39) H255R probably benign Het
Syvn1 G A 19: 6,099,198 (GRCm39) G149D probably damaging Het
Them5 T C 3: 94,253,472 (GRCm39) S161P probably damaging Het
Tlr1 A T 5: 65,083,873 (GRCm39) Y235N possibly damaging Het
Toporsl T C 4: 52,611,967 (GRCm39) L620P probably benign Het
Traf3 A T 12: 111,228,230 (GRCm39) E480D probably benign Het
Trav13n-4 A G 14: 53,601,399 (GRCm39) Y56C probably damaging Het
Trps1 T C 15: 50,524,642 (GRCm39) Y1096C probably damaging Het
Usp2 A G 9: 43,998,510 (GRCm39) probably benign Het
Usp40 A T 1: 87,911,491 (GRCm39) L512Q probably benign Het
Vmn1r175 T C 7: 23,508,403 (GRCm39) T75A probably benign Het
Zan A G 5: 137,426,126 (GRCm39) V2550A unknown Het
Zfp235 A T 7: 23,839,924 (GRCm39) E114D possibly damaging Het
Zmym1 A T 4: 126,945,165 (GRCm39) D141E probably damaging Het
Other mutations in Gnpda2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0566:Gnpda2 UTSW 5 69,742,304 (GRCm39) splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- AGGCCCCACTGAGAGATTAAAG -3'
(R):5'- GTTAAGGCTCAGTTTCCCAATG -3'

Sequencing Primer
(F):5'- AGGTTTATCATCCACTAGAAGTACC -3'
(R):5'- CTCTGGTCCTCACTTACATG -3'
Posted On 2021-03-08