Incidental Mutation 'R4524:Gmpr'
ID 334378
Institutional Source Beutler Lab
Gene Symbol Gmpr
Ensembl Gene ENSMUSG00000000253
Gene Name guanosine monophosphate reductase
Synonyms 2310004P21Rik
MMRRC Submission 041766-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4524 (G1)
Quality Score 192
Status Validated
Chromosome 13
Chromosomal Location 45660905-45699862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45683215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 162 (E162V)
Ref Sequence ENSEMBL: ENSMUSP00000120825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000260] [ENSMUST00000128873]
AlphaFold Q9DCZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000000260
AA Change: E166V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000260
Gene: ENSMUSG00000000253
AA Change: E166V

DomainStartEndE-ValueType
IMPDH 8 344 8.04e-147 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000128873
AA Change: E162V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120825
Gene: ENSMUSG00000000253
AA Change: E162V

DomainStartEndE-ValueType
IMPDH 15 289 2.59e-77 SMART
Meta Mutation Damage Score 0.5053 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (58/60)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,342,076 (GRCm39) S962G probably benign Het
Ackr2 T C 9: 121,738,609 (GRCm39) V328A probably benign Het
Ang4 G T 14: 52,001,605 (GRCm39) C114* probably null Het
Arid1b A T 17: 5,147,895 (GRCm39) Q599L possibly damaging Het
Ascc3 A G 10: 50,536,766 (GRCm39) N700D probably benign Het
Atrnl1 A G 19: 57,618,738 (GRCm39) D152G probably damaging Het
Birc6 C T 17: 74,948,772 (GRCm39) T3067I probably damaging Het
Bmpr2 T C 1: 59,906,571 (GRCm39) S555P probably benign Het
Brox A T 1: 183,074,045 (GRCm39) L68I possibly damaging Het
C130026L21Rik A G 5: 111,733,738 (GRCm39) noncoding transcript Het
Cavin2 T C 1: 51,340,229 (GRCm39) V302A probably benign Het
Cbln3 A T 14: 56,121,522 (GRCm39) C41* probably null Het
Ccdc88c G T 12: 100,879,591 (GRCm39) S1843R possibly damaging Het
Clec4a2 T A 6: 123,102,043 (GRCm39) I66N probably damaging Het
Cybc1 A G 11: 121,114,934 (GRCm39) probably benign Het
Ddx27 T A 2: 166,869,640 (GRCm39) C358* probably null Het
Ehbp1 A T 11: 22,101,843 (GRCm39) D228E probably damaging Het
Emc7 T C 2: 112,285,609 (GRCm39) V66A probably damaging Het
Fbxo41 A G 6: 85,461,024 (GRCm39) I228T probably damaging Het
Furin T C 7: 80,048,382 (GRCm39) probably null Het
Gm3739 T A 14: 18,505,267 (GRCm39) K86* probably null Het
Gtpbp4 A T 13: 9,024,330 (GRCm39) V541D probably benign Het
Myh2 G T 11: 67,067,096 (GRCm39) G184W probably damaging Het
Nop2 G T 6: 125,110,515 (GRCm39) R47L probably damaging Het
Nrg4 T G 9: 55,135,186 (GRCm39) probably benign Het
Ntng1 A G 3: 109,842,312 (GRCm39) S154P probably damaging Het
Or14a257 G T 7: 86,138,034 (GRCm39) H242N probably damaging Het
Or8b12 T C 9: 37,658,162 (GRCm39) L244S possibly damaging Het
Pde7a T A 3: 19,285,140 (GRCm39) H349L possibly damaging Het
Pds5b A T 5: 150,711,781 (GRCm39) D913V probably damaging Het
Plce1 T C 19: 38,512,763 (GRCm39) S21P possibly damaging Het
Ralgapb C A 2: 158,279,226 (GRCm39) T104N probably benign Het
Rapgef1 A G 2: 29,569,258 (GRCm39) I59V probably benign Het
Rpl10l T C 12: 66,330,512 (GRCm39) D207G probably benign Het
Rsph6a C T 7: 18,799,970 (GRCm39) H534Y probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Shcbp1 T C 8: 4,789,193 (GRCm39) Y542C probably damaging Het
Shisa8 C G 15: 82,096,163 (GRCm39) V151L possibly damaging Het
Slc7a8 G A 14: 54,975,059 (GRCm39) T190I probably damaging Het
Spire2 T A 8: 124,086,974 (GRCm39) S382T probably benign Het
Stard9 A G 2: 120,526,926 (GRCm39) D1061G probably damaging Het
Tex44 T G 1: 86,355,298 (GRCm39) D402E probably benign Het
Thbs1 G T 2: 117,953,460 (GRCm39) R959L probably damaging Het
Tiam2 A G 17: 3,564,986 (GRCm39) D1408G probably damaging Het
Trrap C T 5: 144,762,131 (GRCm39) T2352I probably benign Het
Tspyl5 T A 15: 33,687,738 (GRCm39) E69V probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Washc1 C T 17: 66,426,087 (GRCm39) Q462* probably null Het
Xdh C A 17: 74,205,339 (GRCm39) G1042V 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
R3928:Gmpr UTSW 13 45,683,223 (GRCm39) missense probably benign 0.00
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'- CATTCATCGAGGCTCAGACC -3'
(R):5'- AATGAGCCTTGAACCTCTGGG -3'

Sequencing Primer
(F):5'- CCTAATCAACTTCAGAATTGGGGGC -3'
(R):5'- GAACCTCTGGGCGAGTACTTTAC -3'
Posted On 2015-08-18