Incidental Mutation 'R2229:Gmps'
ID 239580
Institutional Source Beutler Lab
Gene Symbol Gmps
Ensembl Gene ENSMUSG00000027823
Gene Name guanine monophosphate synthetase
Synonyms Gm9479
MMRRC Submission 040230-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R2229 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 63883527-63930000 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 63921684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 562 (Y562*)
Ref Sequence ENSEMBL: ENSMUSP00000029405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029405]
AlphaFold Q3THK7
Predicted Effect probably null
Transcript: ENSMUST00000029405
AA Change: Y562*
SMART Domains Protein: ENSMUSP00000029405
Gene: ENSMUSG00000027823
AA Change: Y562*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (78/79)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A T 8: 41,133,404 (GRCm39) I291L probably benign Het
Adcy8 C A 15: 64,694,056 (GRCm39) R407L possibly damaging Het
Adgb A T 10: 10,311,795 (GRCm39) V212E probably damaging Het
Adgrg7 C T 16: 56,572,766 (GRCm39) S350N probably benign Het
Agbl1 A G 7: 76,083,126 (GRCm39) T448A probably benign Het
Aldh1l1 C G 6: 90,560,168 (GRCm39) T605R probably damaging Het
Arfip1 A T 3: 84,455,280 (GRCm39) N18K probably damaging Het
Atp6v1b2 C A 8: 69,555,411 (GRCm39) probably null Het
Banp G A 8: 122,705,424 (GRCm39) S98N probably damaging Het
Btnl9 T C 11: 49,059,945 (GRCm39) D601G probably damaging Het
C9 T C 15: 6,474,901 (GRCm39) I20T possibly damaging Het
Cacna1b A G 2: 24,575,816 (GRCm39) V744A probably damaging Het
Catsper3 A G 13: 55,955,867 (GRCm39) E311G probably damaging Het
Ccdc180 G T 4: 45,948,856 (GRCm39) probably null Het
Cdc5l A G 17: 45,718,772 (GRCm39) Y615H probably benign Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 133,801,837 (GRCm39) probably benign Het
Eml4 C T 17: 83,758,485 (GRCm39) P502S probably benign Het
Fsip1 T C 2: 118,052,925 (GRCm39) E367G probably benign Het
Gja3 T C 14: 57,274,171 (GRCm39) D67G probably damaging Het
Gm4894 T C 9: 49,185,490 (GRCm39) probably benign Het
Gm7853 A G 14: 35,811,484 (GRCm39) noncoding transcript Het
Golga2 C A 2: 32,196,477 (GRCm39) P976T probably benign Het
Gpr182 T A 10: 127,586,010 (GRCm39) I314F possibly damaging Het
Gprc6a A G 10: 51,502,891 (GRCm39) V324A possibly damaging Het
Gykl1 A G 18: 52,828,339 (GRCm39) T516A probably benign Het
H2ac21 T C 3: 96,127,422 (GRCm39) L64P possibly damaging Het
Ifit1bl2 G T 19: 34,596,630 (GRCm39) L329M possibly damaging Het
Igsf9b T C 9: 27,244,792 (GRCm39) S920P probably damaging Het
Kif3c T A 12: 3,416,671 (GRCm39) S231T probably benign Het
Kpna7 A T 5: 144,926,507 (GRCm39) Y482N probably damaging Het
Lmnb2 T C 10: 80,740,226 (GRCm39) probably benign Het
Lrrc69 T C 4: 14,773,694 (GRCm39) S121G probably benign Het
Mppe1 A G 18: 67,361,082 (GRCm39) probably null Het
Muc5b T A 7: 141,415,381 (GRCm39) C2776S possibly damaging Het
Myh8 T G 11: 67,199,174 (GRCm39) N1893K probably damaging Het
Myo7a T C 7: 97,704,117 (GRCm39) T1932A probably benign Het
Nbn A G 4: 15,970,904 (GRCm39) T296A probably benign Het
Nckap1l T C 15: 103,364,361 (GRCm39) probably null Het
Nek5 A T 8: 22,603,648 (GRCm39) N151K possibly damaging Het
Nup93 C T 8: 95,030,819 (GRCm39) T305I probably benign Het
Oca2 T A 7: 56,006,903 (GRCm39) H663Q probably benign Het
Optn T A 2: 5,028,928 (GRCm39) H525L probably damaging Het
Pdzph1 A G 17: 59,239,407 (GRCm39) probably benign Het
Pikfyve A G 1: 65,307,014 (GRCm39) K1801E probably damaging Het
Pkd2l2 G A 18: 34,563,382 (GRCm39) V478M probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r3c C A 19: 36,711,098 (GRCm39) R224L probably benign Het
Prpf19 A G 19: 10,874,962 (GRCm39) T39A probably benign Het
Pwwp2b T C 7: 138,835,104 (GRCm39) C182R probably damaging Het
Rcan3 T C 4: 135,152,688 (GRCm39) D11G probably benign Het
Rgsl1 C A 1: 153,698,104 (GRCm39) W482L possibly damaging Het
Sfxn4 C T 19: 60,839,458 (GRCm39) G200E probably damaging Het
Slc4a8 T C 15: 100,707,180 (GRCm39) I848T probably damaging Het
Slc7a13 T C 4: 19,839,399 (GRCm39) V334A probably benign Het
Smarcc2 A G 10: 128,324,210 (GRCm39) probably benign Het
Spata18 A T 5: 73,824,244 (GRCm39) I156L possibly damaging Het
Spats2 T C 15: 99,072,334 (GRCm39) probably null Het
Tas2r104 G A 6: 131,662,095 (GRCm39) H205Y probably damaging Het
Tcof1 A G 18: 60,965,249 (GRCm39) probably benign Het
Tex15 C A 8: 34,061,265 (GRCm39) H232N probably benign Het
Tg A T 15: 66,545,860 (GRCm39) Q194L probably damaging Het
Tnfrsf22 C T 7: 143,198,513 (GRCm39) probably null Het
Trim25 T A 11: 88,907,447 (GRCm39) V602E probably damaging Het
Ttll9 A G 2: 152,824,983 (GRCm39) E54G probably damaging Het
Ttn T C 2: 76,559,668 (GRCm39) T29578A probably damaging Het
Tubgcp5 A G 7: 55,480,629 (GRCm39) Q960R probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp13 A G 3: 32,971,700 (GRCm39) I727V probably benign Het
Vmn2r67 T A 7: 84,801,250 (GRCm39) I229F probably benign Het
Vmn2r92 A C 17: 18,387,654 (GRCm39) I220L probably benign Het
Wnk4 T A 11: 101,166,467 (GRCm39) probably benign Het
Wwp1 A T 4: 19,641,745 (GRCm39) Y437N probably damaging Het
Zdhhc5 A G 2: 84,520,557 (GRCm39) I540T probably damaging Het
Zfp729b T C 13: 67,743,384 (GRCm39) I60M 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
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'- TGCTTACAGAAAGGCAGTTTAGTGTG -3'
(R):5'- ACTGCAGTATTATGGAAACTCCC -3'

Sequencing Primer
(F):5'- CAAGTTGTTTAGTGTCAGAATTGCTC -3'
(R):5'- CAGCAAAAGTTACATCCTACTGTTTC -3'
Posted On 2014-10-15