Incidental Mutation 'IGL03133:Gmpr'
ID410404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gmpr
Ensembl Gene ENSMUSG00000000253
Gene Nameguanosine monophosphate reductase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03133
Quality Score
Status
Chromosome13
Chromosomal Location45507444-45553800 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45517018 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 72 (V72A)
Ref Sequence ENSEMBL: ENSMUSP00000120825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000260] [ENSMUST00000128873]
Predicted Effect probably benign
Transcript: ENSMUST00000000260
AA Change: V76A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000260
Gene: ENSMUSG00000000253
AA Change: V76A

DomainStartEndE-ValueType
IMPDH 8 344 8.04e-147 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128873
AA Change: V72A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000120825
Gene: ENSMUSG00000000253
AA Change: V72A

DomainStartEndE-ValueType
IMPDH 15 289 2.59e-77 SMART
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,325,896 probably benign Het
Ano5 C T 7: 51,576,512 R505* probably null Het
Asphd1 A G 7: 126,948,280 C284R possibly damaging Het
Cep192 T A 18: 67,810,105 W158R probably benign Het
Ces2h T A 8: 105,016,779 D188E probably damaging Het
Dab1 G A 4: 104,727,580 V306I probably benign Het
Dcc A G 18: 71,262,955 probably benign Het
Dennd6b T A 15: 89,188,523 probably null Het
Dmwd T A 7: 19,076,637 V123D probably damaging Het
Eno1 A G 4: 150,245,344 probably benign Het
Fat2 G A 11: 55,286,043 T1542I probably benign Het
Fcrl1 T C 3: 87,389,392 S274P probably benign Het
Kank2 T C 9: 21,795,641 E27G probably null Het
Mtor G T 4: 148,484,319 A1099S probably benign Het
Ofcc1 T C 13: 40,072,768 I763V probably benign Het
Olfr1023 G T 2: 85,887,134 E111D probably damaging Het
Olfr1065 A G 2: 86,445,658 I108T probably damaging Het
Olfr487 G T 7: 108,212,387 S47R possibly damaging Het
Olfr870 T A 9: 20,170,713 N286I probably damaging Het
Piwil1 C A 5: 128,742,029 H201N probably benign Het
Slc26a7 C T 4: 14,532,576 V433M possibly damaging Het
Spata31d1c T C 13: 65,034,985 Y114H probably benign Het
Stx7 A T 10: 24,185,038 N221I probably damaging Het
Tbc1d31 A T 15: 57,942,459 probably benign Het
Ubxn7 T G 16: 32,381,781 L393R probably damaging Het
Vit A T 17: 78,566,071 M59L probably benign Het
Vmn1r5 T A 6: 56,985,615 C92S probably benign Het
Other mutations in Gmpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0117:Gmpr UTSW 13 45517084 critical splice donor site probably null
R1698:Gmpr UTSW 13 45517044 missense probably benign 0.40
R1864:Gmpr UTSW 13 45542625 missense probably damaging 1.00
R1865:Gmpr UTSW 13 45542625 missense probably damaging 1.00
R1893:Gmpr UTSW 13 45520947 missense possibly damaging 0.67
R1920:Gmpr UTSW 13 45514521 splice site probably benign
R3928:Gmpr UTSW 13 45529747 missense probably benign 0.00
R4524:Gmpr UTSW 13 45529739 missense probably damaging 1.00
R5687:Gmpr UTSW 13 45539020 splice site probably null
R6320:Gmpr UTSW 13 45532398 missense possibly damaging 0.59
Posted On2016-08-02