Incidental Mutation 'R8437:Gfpt2'
ID 660651
Institutional Source Beutler Lab
Gene Symbol Gfpt2
Ensembl Gene ENSMUSG00000020363
Gene Name glutamine fructose-6-phosphate transaminase 2
Synonyms GFAT2
MMRRC Submission 067901-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8437 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 49685005-49729440 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 49695694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000020629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020629]
AlphaFold Q9Z2Z9
Predicted Effect probably benign
Transcript: ENSMUST00000020629
SMART Domains Protein: ENSMUSP00000020629
Gene: ENSMUSG00000020363

DomainStartEndE-ValueType
Pfam:GATase_6 72 212 1e-19 PFAM
Pfam:GATase_4 75 206 1.6e-7 PFAM
Pfam:GATase_7 90 209 8.2e-16 PFAM
Pfam:SIS 363 492 1.7e-38 PFAM
Pfam:SIS 534 665 1.2e-29 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 T C 7: 78,998,178 (GRCm39) Y237H probably damaging Het
Adprh T C 16: 38,266,449 (GRCm39) E231G probably benign Het
Anks6 T C 4: 47,030,705 (GRCm39) S631G probably benign Het
Bpifa5 T A 2: 154,007,526 (GRCm39) L156H probably damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
C8b T C 4: 104,644,040 (GRCm39) Y236H probably damaging Het
Celf2 C T 2: 6,551,956 (GRCm39) G508S probably damaging Het
Clca3a1 T C 3: 144,710,822 (GRCm39) T794A probably benign Het
Col27a1 T A 4: 63,237,701 (GRCm39) probably benign Het
Cyp2j12 C T 4: 95,987,899 (GRCm39) C497Y probably damaging Het
Dnmt3l T C 10: 77,888,602 (GRCm39) I168T possibly damaging Het
Dtna C T 18: 23,723,398 (GRCm39) Q201* probably null Het
Fetub T C 16: 22,752,985 (GRCm39) S146P possibly damaging Het
Gak T G 5: 108,757,272 (GRCm39) E242D probably benign Het
Ginm1 C T 10: 7,646,130 (GRCm39) C290Y probably benign Het
Hepacam T C 9: 37,296,006 (GRCm39) S386P probably damaging Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hnrnpa3 T G 2: 75,493,019 (GRCm39) S220A unknown Het
Hydin A G 8: 111,189,367 (GRCm39) E1257G probably damaging Het
Ier3ip1 C T 18: 77,017,874 (GRCm39) A18V probably damaging Het
Ift140 T A 17: 25,313,651 (GRCm39) C1361S probably damaging Het
Il16 T C 7: 83,301,351 (GRCm39) Q955R probably damaging Het
Itpr3 T G 17: 27,326,277 (GRCm39) M1349R probably damaging Het
Kcnk4 C T 19: 6,903,602 (GRCm39) V316I probably benign Het
Marchf6 A G 15: 31,482,695 (GRCm39) I501T possibly damaging Het
Msl2 T A 9: 100,978,167 (GRCm39) S180R probably benign Het
Muc16 C T 9: 18,569,220 (GRCm39) V1100I unknown Het
Nbas T C 12: 13,616,251 (GRCm39) V2263A possibly damaging Het
Or6b2 C T 1: 92,408,187 (GRCm39) S52N probably benign Het
Or7g33 C T 9: 19,448,833 (GRCm39) R131H probably benign Het
Pdilt T G 7: 119,114,109 (GRCm39) I130L possibly damaging Het
Phldb3 A G 7: 24,328,375 (GRCm39) T640A probably damaging Het
Pole2 G C 12: 69,250,961 (GRCm39) Y467* probably null Het
Pxdn C T 12: 30,052,043 (GRCm39) T740M probably damaging Het
Rabac1 T C 7: 24,671,672 (GRCm39) I83V probably damaging Het
Rrp7a T C 15: 83,001,773 (GRCm39) Q245R probably damaging Het
Sae1 A G 7: 16,104,279 (GRCm39) V110A probably damaging Het
Sema3c G T 5: 17,867,936 (GRCm39) V116F probably damaging Het
Serpina3i A G 12: 104,231,963 (GRCm39) Y200C probably damaging Het
Slc25a45 C T 19: 5,930,135 (GRCm39) T35M probably benign Het
Speer4b C T 5: 27,703,818 (GRCm39) R107Q probably benign Het
Sycp2 T C 2: 178,006,651 (GRCm39) T843A probably damaging Het
Tecta T A 9: 42,243,856 (GRCm39) I2004F probably damaging Het
Tma16 T C 8: 66,929,448 (GRCm39) D182G possibly damaging Het
Topaz1 T A 9: 122,610,427 (GRCm39) Y1167* probably null Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Usp25 A G 16: 76,830,800 (GRCm39) T19A probably damaging Het
Vpreb1b G A 16: 17,798,753 (GRCm39) G80S probably damaging Het
Wdfy4 A G 14: 32,798,332 (GRCm39) C2025R Het
Zyg11a T A 4: 108,075,103 (GRCm39) H6L probably damaging Het
Other mutations in Gfpt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00934:Gfpt2 APN 11 49,699,950 (GRCm39) missense probably benign 0.00
IGL01451:Gfpt2 APN 11 49,698,517 (GRCm39) splice site probably benign
IGL01490:Gfpt2 APN 11 49,717,954 (GRCm39) splice site probably benign
IGL01550:Gfpt2 APN 11 49,715,150 (GRCm39) splice site probably null
IGL01552:Gfpt2 APN 11 49,695,832 (GRCm39) nonsense probably null
IGL02349:Gfpt2 APN 11 49,698,530 (GRCm39) missense probably benign 0.02
IGL02815:Gfpt2 APN 11 49,714,084 (GRCm39) missense possibly damaging 0.89
plethora UTSW 11 49,715,268 (GRCm39) missense probably damaging 1.00
R0525:Gfpt2 UTSW 11 49,720,602 (GRCm39) missense probably benign 0.06
R0539:Gfpt2 UTSW 11 49,723,725 (GRCm39) missense probably damaging 1.00
R1055:Gfpt2 UTSW 11 49,718,038 (GRCm39) missense probably damaging 1.00
R1178:Gfpt2 UTSW 11 49,714,136 (GRCm39) missense probably benign 0.42
R1340:Gfpt2 UTSW 11 49,723,688 (GRCm39) missense probably damaging 1.00
R2372:Gfpt2 UTSW 11 49,698,542 (GRCm39) missense probably benign 0.00
R4154:Gfpt2 UTSW 11 49,726,605 (GRCm39) splice site probably null
R4476:Gfpt2 UTSW 11 49,715,169 (GRCm39) missense probably benign 0.17
R4679:Gfpt2 UTSW 11 49,714,564 (GRCm39) missense probably benign 0.00
R4863:Gfpt2 UTSW 11 49,701,797 (GRCm39) missense probably benign 0.06
R5113:Gfpt2 UTSW 11 49,714,626 (GRCm39) missense probably damaging 1.00
R5509:Gfpt2 UTSW 11 49,717,973 (GRCm39) missense possibly damaging 0.75
R5830:Gfpt2 UTSW 11 49,699,888 (GRCm39) missense probably benign 0.03
R6435:Gfpt2 UTSW 11 49,726,478 (GRCm39) missense probably benign 0.00
R7079:Gfpt2 UTSW 11 49,728,578 (GRCm39) missense possibly damaging 0.77
R7135:Gfpt2 UTSW 11 49,695,782 (GRCm39) missense probably damaging 1.00
R7261:Gfpt2 UTSW 11 49,714,078 (GRCm39) missense possibly damaging 0.77
R7294:Gfpt2 UTSW 11 49,709,435 (GRCm39) nonsense probably null
R7384:Gfpt2 UTSW 11 49,701,817 (GRCm39) missense possibly damaging 0.56
R7778:Gfpt2 UTSW 11 49,715,268 (GRCm39) missense probably damaging 1.00
R7806:Gfpt2 UTSW 11 49,714,142 (GRCm39) missense probably benign
R7824:Gfpt2 UTSW 11 49,715,268 (GRCm39) missense probably damaging 1.00
R8245:Gfpt2 UTSW 11 49,714,785 (GRCm39) missense probably benign 0.01
R8262:Gfpt2 UTSW 11 49,714,607 (GRCm39) missense probably benign 0.02
R8791:Gfpt2 UTSW 11 49,714,043 (GRCm39) missense probably benign 0.01
R9072:Gfpt2 UTSW 11 49,714,185 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGAATGGCAGAGAAGTCCTC -3'
(R):5'- ACTCACCCGCAGAGTCATAG -3'

Sequencing Primer
(F):5'- AGAAGTCCTCTGCTGTGAAAC -3'
(R):5'- AGAGTCATAGCCCCGGTACTC -3'
Posted On 2021-01-22