Incidental Mutation 'R1366:Gmpr2'
ID156049
Institutional Source Beutler Lab
Gene Symbol Gmpr2
Ensembl Gene ENSMUSG00000002326
Gene Nameguanosine monophosphate reductase 2
Synonyms
MMRRC Submission 039431-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.317) question?
Stock #R1366 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location55671941-55679200 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 55676743 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002397] [ENSMUST00000007733] [ENSMUST00000010520] [ENSMUST00000163750] [ENSMUST00000226314] [ENSMUST00000227178] [ENSMUST00000227842] [ENSMUST00000227873] [ENSMUST00000227914]
Predicted Effect probably benign
Transcript: ENSMUST00000002397
SMART Domains Protein: ENSMUSP00000002397
Gene: ENSMUSG00000002326

DomainStartEndE-ValueType
IMPDH 8 347 7.5e-147 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000007733
SMART Domains Protein: ENSMUSP00000007733
Gene: ENSMUSG00000007589

DomainStartEndE-ValueType
Pfam:TINF2_N 20 159 1.8e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000010520
SMART Domains Protein: ENSMUSP00000010520
Gene: ENSMUSG00000010376

DomainStartEndE-ValueType
UBQ 1 72 3.94e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163750
SMART Domains Protein: ENSMUSP00000130492
Gene: ENSMUSG00000010376

DomainStartEndE-ValueType
UBQ 1 72 3.94e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226787
Predicted Effect probably benign
Transcript: ENSMUST00000226819
Predicted Effect probably benign
Transcript: ENSMUST00000227178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227696
Predicted Effect probably benign
Transcript: ENSMUST00000227842
Predicted Effect probably benign
Transcript: ENSMUST00000227873
Predicted Effect probably benign
Transcript: ENSMUST00000227914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228683
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.1%
  • 10x: 92.3%
  • 20x: 80.8%
Validation Efficiency 93% (43/46)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548H24Rik T A 5: 31,487,517 C205S probably benign Het
Aasdh A T 5: 76,888,804 S297T probably benign Het
Acsm1 T C 7: 119,658,288 probably benign Het
Ankar T A 1: 72,698,649 N125Y probably damaging Het
Chd1l T C 3: 97,581,149 D517G probably damaging Het
Cir1 A T 2: 73,306,413 probably benign Het
Cpxm1 G A 2: 130,396,122 R136W probably damaging Het
Cyhr1 T C 15: 76,648,969 R190G probably damaging Het
Dnah10 A T 5: 124,753,326 E761D probably benign Het
Fam186a T A 15: 99,943,389 E1658V possibly damaging Het
Fam98a A G 17: 75,539,386 probably benign Het
Fanca G A 8: 123,304,281 probably benign Het
Frmd6 T C 12: 70,887,889 probably benign Het
Hck G A 2: 153,138,295 G348D probably damaging Het
Ifnab T A 4: 88,691,100 Q43L possibly damaging Het
Ilkap A G 1: 91,387,215 I142T possibly damaging Het
Lamc3 T C 2: 31,928,847 S1206P probably damaging Het
Mfsd13a C T 19: 46,366,504 T40I probably benign Het
Mid1 A C X: 169,986,094 N215H probably damaging Het
Mkrn1 T C 6: 39,405,917 T134A probably benign Het
Mmp9 T A 2: 164,953,342 V628E probably damaging Het
Msi2 A T 11: 88,716,580 V67D probably damaging Het
Ncapd3 T A 9: 27,057,940 V630E probably damaging Het
Nkain1 A G 4: 130,537,316 V73A probably damaging Het
Nphp4 T A 4: 152,502,926 D245E probably damaging Het
Olfr1014 G A 2: 85,777,004 C140Y probably benign Het
Olfr114 T C 17: 37,589,764 I196M probably benign Het
Olfr57 T G 10: 79,035,042 M82R probably damaging Het
Pkd1l1 T C 11: 8,941,038 probably benign Het
Plcxd1 A C 5: 110,102,230 I184L probably damaging Het
Prl3b1 G A 13: 27,243,865 A53T probably benign Het
Rasl10b G A 11: 83,417,839 probably null Het
Scube2 A G 7: 109,804,614 Y890H probably damaging Het
Slco6c1 T A 1: 97,128,203 probably null Het
Tnfaip2 T G 12: 111,449,322 F485V probably benign Het
Tpd52 T C 3: 8,963,933 D17G probably damaging Het
Ube4b T C 4: 149,335,149 D1034G probably damaging Het
Vmn2r118 G A 17: 55,593,237 Q556* probably null Het
Other mutations in Gmpr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Gmpr2 APN 14 55675714 missense probably damaging 0.98
IGL00949:Gmpr2 APN 14 55676750 splice site probably benign
IGL02348:Gmpr2 APN 14 55678301 missense probably damaging 1.00
R0092:Gmpr2 UTSW 14 55677945 missense probably benign 0.36
R0197:Gmpr2 UTSW 14 55672735 missense possibly damaging 0.83
R0323:Gmpr2 UTSW 14 55672746 missense probably damaging 0.99
R0594:Gmpr2 UTSW 14 55677988 missense probably damaging 1.00
R2904:Gmpr2 UTSW 14 55672758 missense probably damaging 1.00
R4996:Gmpr2 UTSW 14 55676795 missense probably damaging 0.99
R5407:Gmpr2 UTSW 14 55678276 missense possibly damaging 0.72
R5695:Gmpr2 UTSW 14 55677234 missense possibly damaging 0.77
R6721:Gmpr2 UTSW 14 55672734 missense probably damaging 1.00
R7414:Gmpr2 UTSW 14 55672802 critical splice donor site probably null
R7623:Gmpr2 UTSW 14 55673034 missense probably damaging 0.99
X0025:Gmpr2 UTSW 14 55675390 missense probably benign
Z1176:Gmpr2 UTSW 14 55672743 missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- GCTGCCTTAAAGGTCATTCTGGTCC -3'
(R):5'- ACACTCCATCACTGCACTGAGCTG -3'

Sequencing Primer
(F):5'- GGTCCTGTTTTTACCCTAGACAATG -3'
(R):5'- ACTGCACTGAGCTGTGGATAC -3'
Posted On2014-02-11