Incidental Mutation 'R9371:Gmpr'
ID 709333
Institutional Source Beutler Lab
Gene Symbol Gmpr
Ensembl Gene ENSMUSG00000000253
Gene Name guanosine monophosphate reductase
Synonyms 2310004P21Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9371 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 45660905-45699862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45699471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 327 (L327P)
Ref Sequence ENSEMBL: ENSMUSP00000000260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000260] [ENSMUST00000091628] [ENSMUST00000128873]
AlphaFold Q9DCZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000000260
AA Change: L327P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000260
Gene: ENSMUSG00000000253
AA Change: L327P

DomainStartEndE-ValueType
IMPDH 8 344 8.04e-147 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000091628
SMART Domains Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876

DomainStartEndE-ValueType
low complexity region 47 67 N/A INTRINSIC
low complexity region 153 168 N/A INTRINSIC
Pfam:ATXN-1_C 391 421 8.7e-15 PFAM
AXH 545 664 1.42e-82 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128873
SMART Domains Protein: ENSMUSP00000120825
Gene: ENSMUSG00000000253

DomainStartEndE-ValueType
IMPDH 15 289 2.59e-77 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T C 6: 40,943,663 (GRCm39) I109T probably damaging Het
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Abca8b T G 11: 109,858,498 (GRCm39) Q568P probably damaging Het
Add3 A G 19: 53,221,499 (GRCm39) T204A probably damaging Het
Afg3l2 C A 18: 67,567,262 (GRCm39) R196L possibly damaging Het
Agps T A 2: 75,742,024 (GRCm39) probably null Het
Akap9 A G 5: 4,011,852 (GRCm39) S852G possibly damaging Het
Aoc1 A G 6: 48,883,102 (GRCm39) D326G probably benign Het
Cecr2 A G 6: 120,739,229 (GRCm39) T1319A probably benign Het
Cenpo C T 12: 4,266,686 (GRCm39) V141I probably benign Het
Clca4b A G 3: 144,631,845 (GRCm39) L220S possibly damaging Het
Dicer1 A G 12: 104,670,991 (GRCm39) L1017P probably damaging Het
Ero1b T G 13: 12,589,728 (GRCm39) C44G probably damaging Het
Ffar2 A T 7: 30,518,929 (GRCm39) W204R probably benign Het
Fmo3 T A 1: 162,796,281 (GRCm39) E97V probably benign Het
Gcnt4 G T 13: 97,083,634 (GRCm39) R310L possibly damaging Het
Gm7298 A G 6: 121,744,541 (GRCm39) I520V probably benign Het
Grid2 T A 6: 64,677,506 (GRCm39) H108Q unknown Het
Hmcn2 G T 2: 31,301,917 (GRCm39) L2935F probably damaging Het
Hnf1b T C 11: 83,779,986 (GRCm39) S440P probably benign Het
Hsph1 A T 5: 149,543,395 (GRCm39) Y644N probably damaging Het
Igf2r A G 17: 12,924,646 (GRCm39) I1057T possibly damaging Het
Igfn1 T C 1: 135,906,001 (GRCm39) E269G probably damaging Het
Igkv14-126 A G 6: 67,873,352 (GRCm39) T27A possibly damaging Het
Inhca A T 9: 103,158,252 (GRCm39) Y103N probably benign Het
Kcnj15 A G 16: 95,097,556 (GRCm39) R393G unknown Het
Lamb1 A G 12: 31,348,863 (GRCm39) T632A probably damaging Het
Lrrk2 T C 15: 91,607,407 (GRCm39) L590P probably damaging Het
Mrm3 A G 11: 76,138,286 (GRCm39) T225A possibly damaging Het
Mthfd1l A G 10: 4,053,335 (GRCm39) T895A possibly damaging Het
Myh1 G A 11: 67,110,631 (GRCm39) probably null Het
Naip2 T A 13: 100,298,354 (GRCm39) K561* probably null Het
Necab2 C T 8: 120,173,923 (GRCm39) P44S probably benign Het
Nrde2 T C 12: 100,092,477 (GRCm39) S1126G probably benign Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or14j6 A G 17: 38,214,962 (GRCm39) H175R probably benign Het
Or8c17 T A 9: 38,179,926 (GRCm39) V31E possibly damaging Het
Pecam1 T G 11: 106,581,947 (GRCm39) D333A probably benign Het
Prss27 T C 17: 24,257,141 (GRCm39) probably benign Het
Rapgef2 T C 3: 79,082,300 (GRCm39) E100G probably damaging Het
Rnft2 A G 5: 118,340,982 (GRCm39) F299L probably damaging Het
Rptor A G 11: 119,562,152 (GRCm39) N105S possibly damaging Het
S100a7l2 T C 3: 90,997,698 (GRCm39) T6A unknown Het
Scgb2b3 T A 7: 31,059,642 (GRCm39) H44L probably benign Het
Slc22a17 A T 14: 55,147,139 (GRCm39) V53D possibly damaging Het
Slc39a14 G A 14: 70,547,569 (GRCm39) T298M probably benign Het
Sorbs1 G A 19: 40,315,324 (GRCm39) T496M probably damaging Het
Spata31e1 G C 13: 49,939,052 (GRCm39) T886S unknown Het
Taar8a T C 10: 23,952,753 (GRCm39) V119A probably benign Het
Tas1r3 T C 4: 155,945,059 (GRCm39) T721A possibly damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmie A T 9: 110,696,651 (GRCm39) C77S probably damaging Het
Tpp2 T A 1: 43,999,369 (GRCm39) I381K probably damaging Het
Ttn G C 2: 76,776,822 (GRCm39) A1526G unknown Het
Vmn2r12 T A 5: 109,234,452 (GRCm39) M587L probably benign Het
Zeb2 G T 2: 44,888,912 (GRCm39) H344Q probably damaging Het
Zfp292 A G 4: 34,810,800 (GRCm39) I753T probably damaging Het
Zfp442 A T 2: 150,250,676 (GRCm39) C409S unknown Het
Zfp677 C T 17: 21,618,053 (GRCm39) T370M probably damaging Het
Zfp947 G A 17: 22,364,384 (GRCm39) T430I possibly 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
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
R9632:Gmpr UTSW 13 45,699,519 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACTCCATTTGCATGTTGTCAAAG -3'
(R):5'- CAGCATCTGTGATAGCAGCC -3'

Sequencing Primer
(F):5'- TTGCATGTTGTCAAAGGAATAAAGGC -3'
(R):5'- TCCCCGAGGTTAACCAAA -3'
Posted On 2022-04-18