Incidental Mutation 'R3928:Gmpr'
ID 308386
Institutional Source Beutler Lab
Gene Symbol Gmpr
Ensembl Gene ENSMUSG00000000253
Gene Name guanosine monophosphate reductase
Synonyms 2310004P21Rik
MMRRC Submission 040823-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3928 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 45660905-45699862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45683223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 165 (I165V)
Ref Sequence ENSEMBL: ENSMUSP00000120825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000260] [ENSMUST00000128873]
AlphaFold Q9DCZ1
Predicted Effect probably benign
Transcript: ENSMUST00000000260
AA Change: I169V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000000260
Gene: ENSMUSG00000000253
AA Change: I169V

DomainStartEndE-ValueType
IMPDH 8 344 8.04e-147 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128873
AA Change: I165V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000120825
Gene: ENSMUSG00000000253
AA Change: I165V

DomainStartEndE-ValueType
IMPDH 15 289 2.59e-77 SMART
Meta Mutation Damage Score 0.3020 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: A similar gene in human encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. [provided by RefSeq, May 2015]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr A T 11: 76,359,561 (GRCm39) H181Q probably benign Het
Atrx T C X: 104,923,523 (GRCm39) I157V possibly damaging Het
Birc6 A G 17: 74,918,170 (GRCm39) D1856G possibly damaging Het
Birc6 A G 17: 74,945,404 (GRCm39) T2811A probably damaging Het
Brsk2 T C 7: 141,552,155 (GRCm39) F108S probably damaging Het
Clasp2 C A 9: 113,735,173 (GRCm39) H1004N probably benign Het
Cntd1 G A 11: 101,178,345 (GRCm39) V315I probably benign Het
Col13a1 A G 10: 61,703,304 (GRCm39) probably benign Het
Ctps1 T A 4: 120,399,093 (GRCm39) H553L probably benign Het
Dpysl2 A G 14: 67,061,880 (GRCm39) I242T possibly damaging Het
Exoc3l C T 8: 106,017,549 (GRCm39) probably benign Het
Fam229a A G 4: 129,385,204 (GRCm39) probably benign Het
Fshr C T 17: 89,292,962 (GRCm39) R572H probably damaging Het
Gm5501 A G 18: 9,917,267 (GRCm39) noncoding transcript Het
Gnat3 G A 5: 18,208,892 (GRCm39) probably benign Het
H1f8 A G 6: 115,925,757 (GRCm39) K185E probably benign Het
H2-Q4 T G 17: 35,598,666 (GRCm39) L16R unknown Het
Hs2st1 T C 3: 144,140,389 (GRCm39) K311E possibly damaging Het
Kcnj15 A G 16: 95,097,368 (GRCm39) E330G possibly damaging Het
Kif3a A G 11: 53,461,441 (GRCm39) K29E probably benign Het
Krtap4-1 A G 11: 99,518,983 (GRCm39) V9A unknown Het
Lmntd2 C T 7: 140,791,117 (GRCm39) G432S probably damaging Het
Me3 T C 7: 89,482,898 (GRCm39) probably benign Het
Myo1d G T 11: 80,375,087 (GRCm39) R996S probably benign Het
Myo9a T A 9: 59,802,566 (GRCm39) W2018R probably damaging Het
Nphp3 G T 9: 103,888,929 (GRCm39) V265F probably damaging Het
Or10ak9 T C 4: 118,726,179 (GRCm39) L66P probably damaging Het
Or5p67 A G 7: 107,922,232 (GRCm39) I217T probably benign Het
Or8c16 T C 9: 38,130,131 (GRCm39) M1T probably null Het
Pgp A G 17: 24,690,315 (GRCm39) E247G probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plch1 G A 3: 63,675,044 (GRCm39) A202V probably damaging Het
Rbm11 G A 16: 75,389,932 (GRCm39) probably null Het
Scg5 T C 2: 113,622,230 (GRCm39) K124R probably damaging Het
Serpina3j A T 12: 104,285,916 (GRCm39) H357L probably damaging Het
St6gal2 A G 17: 55,803,324 (GRCm39) D353G possibly damaging Het
Tdpoz3 T C 3: 93,734,216 (GRCm39) I297T possibly damaging Het
Tdrd5 G A 1: 156,128,348 (GRCm39) T136I probably benign Het
Tfcp2l1 T A 1: 118,597,206 (GRCm39) I429K possibly damaging Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Top1 T C 2: 160,529,669 (GRCm39) probably benign Het
Trim61 A G 8: 65,465,969 (GRCm39) F431L probably benign Het
Trmo C T 4: 46,382,647 (GRCm39) G150S probably damaging Het
Vmn1r183 T C 7: 23,754,997 (GRCm39) S267P probably damaging Het
Xirp2 T A 2: 67,342,013 (GRCm39) F1418Y possibly damaging Het
Zfp114 T C 7: 23,880,467 (GRCm39) V271A possibly damaging Het
Zfp710 A G 7: 79,731,134 (GRCm39) R104G probably damaging Het
Other mutations in Gmpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03133:Gmpr APN 13 45,670,494 (GRCm39) missense probably benign 0.02
R0117:Gmpr UTSW 13 45,670,560 (GRCm39) critical splice donor site probably null
R1698:Gmpr UTSW 13 45,670,520 (GRCm39) missense probably benign 0.40
R1864:Gmpr UTSW 13 45,696,101 (GRCm39) missense probably damaging 1.00
R1865:Gmpr UTSW 13 45,696,101 (GRCm39) missense probably damaging 1.00
R1893:Gmpr UTSW 13 45,674,423 (GRCm39) missense possibly damaging 0.67
R1920:Gmpr UTSW 13 45,667,997 (GRCm39) splice site probably benign
R4524:Gmpr UTSW 13 45,683,215 (GRCm39) missense probably damaging 1.00
R5687:Gmpr UTSW 13 45,692,496 (GRCm39) splice site probably null
R6320:Gmpr UTSW 13 45,685,874 (GRCm39) missense possibly damaging 0.59
R8715:Gmpr UTSW 13 45,696,102 (GRCm39) missense possibly damaging 0.95
R9371:Gmpr UTSW 13 45,699,471 (GRCm39) missense probably damaging 1.00
R9632:Gmpr UTSW 13 45,699,519 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTGGAACTGTGGTAGCCTCAATAC -3'
(R):5'- ATCAGAGGGCAGTTCAGTGG -3'

Sequencing Primer
(F):5'- TGTGGTAGCCTCAATACACACATG -3'
(R):5'- CAGTTCAGTGGCATCTCAGGAG -3'
Posted On 2015-04-17