Incidental Mutation 'R7188:Gmps'
ID 559411
Institutional Source Beutler Lab
Gene Symbol Gmps
Ensembl Gene ENSMUSG00000027823
Gene Name guanine monophosphate synthetase
Synonyms Gm9479
MMRRC Submission 045272-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R7188 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 63883527-63930000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63918982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 522 (D522G)
Ref Sequence ENSEMBL: ENSMUSP00000029405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029405]
AlphaFold Q3THK7
Predicted Effect probably damaging
Transcript: ENSMUST00000029405
AA Change: D522G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823
AA Change: D522G

DomainStartEndE-ValueType
Pfam:GATase 29 210 6.3e-42 PFAM
Pfam:Peptidase_C26 91 192 1.9e-14 PFAM
Pfam:NAD_synthase 219 339 2.8e-10 PFAM
Pfam:Asn_synthase 231 315 3.9e-6 PFAM
Pfam:tRNA_Me_trans 237 318 1.1e-6 PFAM
Pfam:QueC 238 353 5.3e-9 PFAM
Pfam:GMP_synt_C 492 692 1.4e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,554,600 (GRCm39) Y118C possibly damaging Het
Abcb6 A G 1: 75,150,781 (GRCm39) probably null Het
Acox2 T A 14: 8,252,996 (GRCm38) I236L possibly damaging Het
Adamts12 A T 15: 11,336,411 (GRCm39) K1499* probably null Het
Ankrd24 G T 10: 81,472,224 (GRCm39) E20* probably null Het
Arsa A T 15: 89,359,830 (GRCm39) Y32* probably null Het
Atp9b A G 18: 80,961,041 (GRCm39) S57P Het
Atr G T 9: 95,744,844 (GRCm39) E54* probably null Het
Bace1 A G 9: 45,767,393 (GRCm39) D192G probably benign Het
Bltp1 A T 3: 37,004,162 (GRCm39) T1624S probably benign Het
Bltp3b T C 10: 89,615,744 (GRCm39) V129A probably damaging Het
Cacna1d T C 14: 29,811,790 (GRCm39) S1309G probably benign Het
Cd177 G T 7: 24,456,072 (GRCm39) T232K probably damaging Het
Chil4 T A 3: 106,111,475 (GRCm39) D213V probably damaging Het
Cmya5 A T 13: 93,182,546 (GRCm39) I3538N probably damaging Het
Cyp26a1 T A 19: 37,687,753 (GRCm39) M287K possibly damaging Het
Dcaf5 T C 12: 80,446,732 (GRCm39) D129G probably damaging Het
Dnah12 A C 14: 26,536,370 (GRCm39) K2095N probably benign Het
Dnpep G A 1: 75,292,701 (GRCm39) S106L probably damaging Het
Dock2 C T 11: 34,189,675 (GRCm39) E1499K possibly damaging Het
Dus4l A G 12: 31,696,714 (GRCm39) F88L probably damaging Het
Fcrl2 A C 3: 87,166,830 (GRCm39) D54E probably benign Het
Fign T A 2: 63,809,950 (GRCm39) H440L possibly damaging Het
Gabpa A G 16: 84,643,174 (GRCm39) D157G probably damaging Het
Gapdh T A 6: 125,142,403 (GRCm39) probably benign Het
Gbp8 G T 5: 105,164,081 (GRCm39) R406S probably benign Het
Gm21775 A G Y: 10,553,894 (GRCm39) R148G possibly damaging Het
Gm28363 G A 1: 117,626,579 (GRCm39) V6I unknown Het
Gpr75 T C 11: 30,842,687 (GRCm39) S531P probably damaging Het
Hars2 G T 18: 36,923,614 (GRCm39) E468D probably benign Het
Jph4 C A 14: 55,352,664 (GRCm39) R23L probably damaging Het
Kctd12 T A 14: 103,219,230 (GRCm39) Y216F probably benign Het
L3mbtl1 G A 2: 162,791,460 (GRCm39) probably null Het
Lama4 G A 10: 38,841,729 (GRCm39) probably benign Het
Lyst T A 13: 13,926,675 (GRCm39) S3494T possibly damaging Het
Mybpc2 A G 7: 44,155,617 (GRCm39) S879P probably benign Het
Ncaph C T 2: 126,964,034 (GRCm39) V304M probably benign Het
Noto A T 6: 85,405,047 (GRCm39) I229F possibly damaging Het
Or10n7-ps1 T C 9: 39,597,731 (GRCm39) M170V unknown Het
Or4c29 T C 2: 88,740,203 (GRCm39) D178G probably damaging Het
Or8k25 T A 2: 86,243,695 (GRCm39) K234* probably null Het
Pald1 A T 10: 61,182,845 (GRCm39) V368E probably damaging Het
Pde9a T A 17: 31,678,071 (GRCm39) M217K probably damaging Het
Pira1 A T 7: 3,741,828 (GRCm39) V184E probably damaging Het
Pitpnm2 G T 5: 124,259,366 (GRCm39) A1323E probably benign Het
Ppp1r3a T C 6: 14,719,190 (GRCm39) S575G probably benign Het
Prok1 T C 3: 107,146,941 (GRCm39) I9V probably benign Het
Ptprc A T 1: 137,998,918 (GRCm39) V905D probably damaging Het
Rbm25 G T 12: 83,710,772 (GRCm39) G295V unknown Het
Rreb1 T C 13: 38,100,544 (GRCm39) M225T possibly damaging Het
Ryr3 T C 2: 112,858,989 (GRCm39) K55E probably damaging Het
Saxo4 T A 19: 10,459,702 (GRCm39) M2L probably benign Het
Scgb2b26 G T 7: 33,644,379 (GRCm39) T4K probably damaging Het
Setx C A 2: 29,038,184 (GRCm39) D1556E probably benign Het
Sft2d1 C T 17: 8,542,164 (GRCm39) T136I possibly damaging Het
Sirt5 C T 13: 43,525,380 (GRCm39) A63V possibly damaging Het
Skor2 A G 18: 76,947,504 (GRCm39) T409A possibly damaging Het
Slc12a6 T C 2: 112,164,760 (GRCm39) M153T probably benign Het
Slc34a1 A G 13: 24,006,348 (GRCm39) Y458C probably damaging Het
Slc36a2 A G 11: 55,053,483 (GRCm39) V385A possibly damaging Het
St6galnac5 A T 3: 152,552,131 (GRCm39) H145Q probably damaging Het
Tal1 T A 4: 114,925,610 (GRCm39) N226K probably damaging Het
Tgtp2 G C 11: 48,950,135 (GRCm39) R146G probably damaging Het
Usp6nl T C 2: 6,445,330 (GRCm39) S436P probably benign Het
Utp3 A G 5: 88,702,621 (GRCm39) E50G probably benign Het
Zfp12 A T 5: 143,225,749 (GRCm39) Q19L probably damaging Het
Other mutations in Gmps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Gmps APN 3 63,921,788 (GRCm39) missense probably benign
IGL01341:Gmps APN 3 63,922,861 (GRCm39) missense probably damaging 1.00
IGL01369:Gmps APN 3 63,909,013 (GRCm39) missense probably benign 0.00
IGL02332:Gmps APN 3 63,897,990 (GRCm39) missense probably benign 0.01
IGL02481:Gmps APN 3 63,921,773 (GRCm39) missense probably damaging 1.00
IGL02483:Gmps APN 3 63,921,773 (GRCm39) missense probably damaging 1.00
IGL03173:Gmps APN 3 63,897,750 (GRCm39) missense probably damaging 0.98
K3955:Gmps UTSW 3 63,908,954 (GRCm39) missense probably damaging 1.00
R0089:Gmps UTSW 3 63,906,119 (GRCm39) missense probably benign 0.20
R0165:Gmps UTSW 3 63,901,375 (GRCm39) missense probably damaging 1.00
R0466:Gmps UTSW 3 63,901,365 (GRCm39) missense probably damaging 0.97
R0940:Gmps UTSW 3 63,883,743 (GRCm39) splice site probably benign
R1686:Gmps UTSW 3 63,893,075 (GRCm39) missense probably damaging 1.00
R1872:Gmps UTSW 3 63,908,938 (GRCm39) missense probably benign 0.15
R1924:Gmps UTSW 3 63,906,049 (GRCm39) missense probably damaging 1.00
R2229:Gmps UTSW 3 63,921,684 (GRCm39) nonsense probably null
R3014:Gmps UTSW 3 63,922,857 (GRCm39) missense possibly damaging 0.79
R3800:Gmps UTSW 3 63,889,866 (GRCm39) missense possibly damaging 0.48
R4118:Gmps UTSW 3 63,887,615 (GRCm39) missense probably benign 0.00
R4293:Gmps UTSW 3 63,898,040 (GRCm39) missense probably damaging 0.99
R4596:Gmps UTSW 3 63,901,338 (GRCm39) nonsense probably null
R4665:Gmps UTSW 3 63,908,956 (GRCm39) missense probably benign 0.11
R5032:Gmps UTSW 3 63,897,746 (GRCm39) missense probably benign 0.01
R6045:Gmps UTSW 3 63,887,558 (GRCm39) missense probably benign
R6153:Gmps UTSW 3 63,908,964 (GRCm39) missense probably benign 0.00
R6985:Gmps UTSW 3 63,922,960 (GRCm39) missense probably damaging 1.00
R7523:Gmps UTSW 3 63,919,087 (GRCm39) missense possibly damaging 0.78
R7724:Gmps UTSW 3 63,893,074 (GRCm39) missense possibly damaging 0.85
R7806:Gmps UTSW 3 63,890,091 (GRCm39) splice site probably null
R7819:Gmps UTSW 3 63,893,048 (GRCm39) missense probably damaging 1.00
R7849:Gmps UTSW 3 63,922,984 (GRCm39) missense probably benign 0.33
R8113:Gmps UTSW 3 63,887,690 (GRCm39) missense probably damaging 0.99
R8351:Gmps UTSW 3 63,887,615 (GRCm39) missense probably benign 0.00
R8491:Gmps UTSW 3 63,921,779 (GRCm39) missense probably benign 0.07
R8947:Gmps UTSW 3 63,906,098 (GRCm39) missense probably damaging 0.96
R9233:Gmps UTSW 3 63,924,133 (GRCm39) missense probably damaging 1.00
R9334:Gmps UTSW 3 63,889,864 (GRCm39) missense probably damaging 1.00
R9393:Gmps UTSW 3 63,900,640 (GRCm39) missense probably benign 0.35
R9639:Gmps UTSW 3 63,922,938 (GRCm39) missense probably damaging 1.00
R9672:Gmps UTSW 3 63,897,750 (GRCm39) missense probably damaging 0.98
X0063:Gmps UTSW 3 63,904,271 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCCAAGTGGACTTCTGCATG -3'
(R):5'- AGGACATATTTTCCCACCACACTTC -3'

Sequencing Primer
(F):5'- ATTCCTGAATTGATCCAGGTGG -3'
(R):5'- TCATTCACACCAACATCCCCTCTG -3'
Posted On 2019-06-26