Incidental Mutation 'R1924:Gmps'
ID 213261
Institutional Source Beutler Lab
Gene Symbol Gmps
Ensembl Gene ENSMUSG00000027823
Gene Name guanine monophosphate synthetase
Synonyms Gm9479
MMRRC Submission 039942-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R1924 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 63883527-63930000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 63906049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 449 (C449G)
Ref Sequence ENSEMBL: ENSMUSP00000029405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029405]
AlphaFold Q3THK7
Predicted Effect probably damaging
Transcript: ENSMUST00000029405
AA Change: C449G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823
AA Change: C449G

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
Meta Mutation Damage Score 0.7702 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 94% (63/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb G A 5: 114,368,781 (GRCm39) M1666I possibly damaging Het
Adamts13 A T 2: 26,874,153 (GRCm39) Q434L probably damaging Het
Adgrg3 G A 8: 95,762,562 (GRCm39) R204H probably benign Het
Arhgef28 A C 13: 98,073,324 (GRCm39) probably benign Het
AU041133 T A 10: 81,987,101 (GRCm39) C251* probably null Het
Axin2 T A 11: 108,833,794 (GRCm39) N580K probably benign Het
C4b A G 17: 34,948,631 (GRCm39) C1560R probably damaging Het
Cacna1g A G 11: 94,334,880 (GRCm39) I809T possibly damaging Het
Cacna1s C A 1: 136,016,755 (GRCm39) probably null Het
Cadps2 T C 6: 23,688,857 (GRCm39) S151G probably damaging Het
Capn1 T C 19: 6,040,086 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Ccdc73 A G 2: 104,822,637 (GRCm39) D862G probably damaging Het
Cdk17 T C 10: 93,061,979 (GRCm39) L237P probably damaging Het
Cfap251 A G 5: 123,440,802 (GRCm39) I1120V possibly damaging Het
Chad A C 11: 94,456,384 (GRCm39) N154T possibly damaging Het
Cog1 C T 11: 113,547,038 (GRCm39) T544I probably benign Het
Cracd A T 5: 77,006,470 (GRCm39) T944S unknown Het
Ctnna2 T C 6: 76,931,830 (GRCm39) E590G possibly damaging Het
Dapk2 T A 9: 66,072,642 (GRCm39) M6K probably benign Het
Dchs1 T C 7: 105,421,487 (GRCm39) E311G possibly damaging Het
Ddr2 T A 1: 169,809,641 (GRCm39) T779S probably benign Het
Dhtkd1 A G 2: 5,916,744 (GRCm39) V644A probably damaging Het
Dock2 A G 11: 34,414,934 (GRCm39) V147A possibly damaging Het
Ear10 A T 14: 44,160,357 (GRCm39) *157K probably null Het
Gm10801 T C 2: 98,494,197 (GRCm39) I113T probably damaging Het
Grin3a A G 4: 49,844,988 (GRCm39) S32P possibly damaging Het
Igkv1-115 A T 6: 68,138,592 (GRCm39) D65V probably damaging Het
Klk1b4 A G 7: 43,859,105 (GRCm39) N41S probably benign Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrrc8a T A 2: 30,145,262 (GRCm39) D25E probably damaging Het
Muc5b A G 7: 141,421,960 (GRCm39) R4426G possibly damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myo5a G T 9: 75,023,489 (GRCm39) D17Y probably damaging Het
Nat1 C G 8: 67,944,076 (GRCm39) L154V probably benign Het
Nek3 T A 8: 22,647,047 (GRCm39) T163S probably damaging Het
Or2w25 G T 11: 59,503,949 (GRCm39) R53L possibly damaging Het
Or5p80 A G 7: 108,229,562 (GRCm39) D121G probably damaging Het
Or6c204 A G 10: 129,023,044 (GRCm39) I82T possibly damaging Het
Or8d2b T A 9: 38,789,147 (GRCm39) I225N probably damaging Het
Or8g32 A T 9: 39,305,163 (GRCm39) E22D possibly damaging Het
Or9s13 T C 1: 92,548,525 (GRCm39) L299P probably damaging Het
Osr1 T G 12: 9,629,268 (GRCm39) L47R probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pik3ap1 T A 19: 41,291,053 (GRCm39) N493I possibly damaging Het
Polr3e T A 7: 120,539,820 (GRCm39) N522K probably damaging Het
Rabgap1 T A 2: 37,385,771 (GRCm39) probably null Het
Rp1l1 C A 14: 64,268,992 (GRCm39) A1526E probably benign Het
Scn3a T A 2: 65,291,878 (GRCm39) I1623F probably damaging Het
Serpinb9e A G 13: 33,437,428 (GRCm39) T104A probably benign Het
Sh3rf3 T C 10: 58,939,989 (GRCm39) probably benign Het
Slc30a3 A G 5: 31,245,748 (GRCm39) Y213H probably damaging Het
Sptbn4 C T 7: 27,106,563 (GRCm39) R955H probably damaging Het
Tfb1m A T 17: 3,569,946 (GRCm39) Y307N probably damaging Het
Tnrc6b G T 15: 80,768,407 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ulk1 A G 5: 110,938,936 (GRCm39) Y501H probably damaging Het
Zbtb17 A G 4: 141,191,914 (GRCm39) H315R probably damaging Het
Zeb2 A G 2: 44,892,624 (GRCm39) Y142H probably damaging Het
Zfr T C 15: 12,160,715 (GRCm39) S763P possibly 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
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
R7188:Gmps UTSW 3 63,918,982 (GRCm39) missense probably damaging 0.97
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'- ACCAAAGAGCTACATTTTCAGC -3'
(R):5'- GTCAGGATTTCTACACTGTCATTGC -3'

Sequencing Primer
(F):5'- GCCCTGGGTTTGAGTTCTAACAC -3'
(R):5'- CACTGTCATTGCAAATATTGTTCTG -3'
Posted On 2014-07-14