Incidental Mutation 'R1686:Gmps'
ID 189317
Institutional Source Beutler Lab
Gene Symbol Gmps
Ensembl Gene ENSMUSG00000027823
Gene Name guanine monophosphate synthetase
Synonyms Gm9479
MMRRC Submission 039719-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R1686 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 63883527-63930000 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63893075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 127 (G127R)
Ref Sequence ENSEMBL: ENSMUSP00000029405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029405]
AlphaFold Q3THK7
Predicted Effect probably damaging
Transcript: ENSMUST00000029405
AA Change: G127R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823
AA Change: G127R

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 0.9671 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (85/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G A 10: 100,448,722 (GRCm39) V400I probably damaging Het
Abcb1b A G 5: 8,848,782 (GRCm39) N14S probably damaging Het
Adamts14 A G 10: 61,034,439 (GRCm39) Y1150H probably benign Het
Adgrg3 A G 8: 95,759,997 (GRCm39) N72S probably benign Het
Akain1 T A 17: 69,746,527 (GRCm39) F3I possibly damaging Het
Akr1c21 T C 13: 4,627,452 (GRCm39) L182P probably damaging Het
Arhgap21 A T 2: 20,886,659 (GRCm39) Y12N probably damaging Het
Aup1 A T 6: 83,032,226 (GRCm39) H131L probably damaging Het
Bag6 A G 17: 35,363,928 (GRCm39) T812A possibly damaging Het
Bmp2k A G 5: 97,211,392 (GRCm39) Y520C unknown Het
Calm4 T G 13: 3,888,302 (GRCm39) V136G probably damaging Het
Catsper2 A G 2: 121,230,523 (GRCm39) probably null Het
Cc2d2a A G 5: 43,896,713 (GRCm39) T1537A possibly damaging Het
Cntn2 A T 1: 132,454,049 (GRCm39) V319D possibly damaging Het
Cux1 G A 5: 136,304,235 (GRCm39) R1314* probably null Het
Cxcl12 A G 6: 117,150,508 (GRCm39) I79V probably damaging Het
Cyp2j6 T C 4: 96,412,014 (GRCm39) D418G probably benign Het
Ddx28 G C 8: 106,737,190 (GRCm39) D289E probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam135a A C 1: 24,068,887 (GRCm39) S448A probably benign Het
Fbxo33 G T 12: 59,251,626 (GRCm39) N30K possibly damaging Het
Fgf12 A C 16: 28,217,093 (GRCm39) Y21D probably damaging Het
Galntl5 C T 5: 25,415,432 (GRCm39) S288L probably benign Het
Gart G T 16: 91,422,237 (GRCm39) A760D probably damaging Het
Gba2 A T 4: 43,573,869 (GRCm39) probably benign Het
Gm10518 C A 1: 179,631,357 (GRCm39) S139* probably null Het
Gm4781 A T 10: 100,232,837 (GRCm39) noncoding transcript Het
Gm9790 A G 3: 85,823,156 (GRCm39) noncoding transcript Het
Golim4 A T 3: 75,802,443 (GRCm39) V283E probably benign Het
Gprc5a A T 6: 135,055,918 (GRCm39) I122F possibly damaging Het
Gzmc T C 14: 56,471,341 (GRCm39) K67E probably benign Het
Hapln3 C A 7: 78,771,638 (GRCm39) V84L probably benign Het
Hif3a T A 7: 16,778,789 (GRCm39) N377Y possibly damaging Het
Ifi211 G A 1: 173,726,969 (GRCm39) H392Y probably damaging Het
Iqgap3 T A 3: 88,015,663 (GRCm39) probably benign Het
Itga10 T A 3: 96,559,141 (GRCm39) F410Y probably damaging Het
Jup T C 11: 100,263,260 (GRCm39) Y705C probably damaging Het
Khsrp C T 17: 57,332,597 (GRCm39) A228T probably benign Het
Lmntd2 C T 7: 140,790,998 (GRCm39) G445D probably damaging Het
Lyst T C 13: 13,809,290 (GRCm39) V320A possibly damaging Het
Magel2 T A 7: 62,027,988 (GRCm39) H297Q possibly damaging Het
Mbd6 T C 10: 127,123,286 (GRCm39) E33G probably damaging Het
Mob3b A G 4: 34,985,910 (GRCm39) probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mymk A T 2: 26,952,346 (GRCm39) W174R probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nipal3 T C 4: 135,174,599 (GRCm39) Y384C possibly damaging Het
Nt5c3b A G 11: 100,330,920 (GRCm39) probably benign Het
Obox6 T A 7: 15,567,750 (GRCm39) L232F probably damaging Het
Obscn A C 11: 58,997,113 (GRCm39) probably benign Het
Or7g12 T C 9: 18,899,839 (GRCm39) L185P probably damaging Het
Phkb A G 8: 86,748,278 (GRCm39) I706V probably benign Het
Plcb2 A G 2: 118,546,168 (GRCm39) probably benign Het
Plek2 T C 12: 78,941,184 (GRCm39) D216G probably damaging Het
Plxnb2 T C 15: 89,046,665 (GRCm39) Y855C probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Psma7 A T 2: 179,679,215 (GRCm39) D184E probably benign Het
Rai14 T A 15: 10,592,282 (GRCm39) L204F probably damaging Het
Ralgapa2 A G 2: 146,199,920 (GRCm39) V1208A probably benign Het
Rapgef6 A G 11: 54,582,458 (GRCm39) R67G possibly damaging Het
Ryr2 C T 13: 11,618,665 (GRCm39) probably benign Het
Satb1 T C 17: 52,047,027 (GRCm39) S763G probably benign Het
Sdk1 A T 5: 142,020,292 (GRCm39) H690L probably benign Het
Sfrp5 A C 19: 42,190,143 (GRCm39) V103G possibly damaging Het
Six6 A G 12: 72,988,451 (GRCm39) E208G probably benign Het
Sspo A T 6: 48,437,334 (GRCm39) H1364L probably benign Het
Stard9 A T 2: 120,529,973 (GRCm39) T2077S probably benign Het
Tacr3 T C 3: 134,535,254 (GRCm39) L74P probably damaging Het
Tep1 T C 14: 51,074,245 (GRCm39) E1880G probably benign Het
Tgfb3 A T 12: 86,116,517 (GRCm39) probably benign Het
Thap7 G A 16: 17,346,576 (GRCm39) P136S probably damaging Het
Thoc2l T A 5: 104,667,789 (GRCm39) Y770* probably null Het
Tmc2 T C 2: 130,098,036 (GRCm39) V717A possibly damaging Het
Usp43 T A 11: 67,778,593 (GRCm39) S446C probably damaging Het
Vwa3a C T 7: 120,379,371 (GRCm39) S492L probably damaging Het
Wdhd1 T A 14: 47,493,672 (GRCm39) N16I probably damaging Het
Wdr95 A T 5: 149,516,566 (GRCm39) D327V probably damaging Het
Zfp128 T G 7: 12,624,563 (GRCm39) Y310* probably null 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
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
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'- GCACAACAAATGGGAAGTCTCTCAGTG -3'
(R):5'- TGATGAAGGCATCTGTCACCAAGC -3'

Sequencing Primer
(F):5'- TGTCACAGATTAACCTCAGGTC -3'
(R):5'- CCtgaaaaaggagaatcaactccc -3'
Posted On 2014-05-14