Incidental Mutation 'R0847:Gpn2'
ID 77005
Institutional Source Beutler Lab
Gene Symbol Gpn2
Ensembl Gene ENSMUSG00000028848
Gene Name GPN-loop GTPase 2
Synonyms Atpbd1b
MMRRC Submission 039026-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R0847 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 133311684-133319046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133315906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 199 (N199D)
Ref Sequence ENSEMBL: ENSMUSP00000101519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030661] [ENSMUST00000030662] [ENSMUST00000105899]
AlphaFold Q8VEJ1
Predicted Effect probably benign
Transcript: ENSMUST00000030661
AA Change: N222D

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030661
Gene: ENSMUSG00000028848
AA Change: N222D

DomainStartEndE-ValueType
Pfam:ATP_bind_1 14 261 6.6e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030662
SMART Domains Protein: ENSMUSP00000030662
Gene: ENSMUSG00000028850

DomainStartEndE-ValueType
low complexity region 83 97 N/A INTRINSIC
low complexity region 274 305 N/A INTRINSIC
G_patch 409 457 1.3e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105899
AA Change: N199D

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101519
Gene: ENSMUSG00000028848
AA Change: N199D

DomainStartEndE-ValueType
Pfam:ATP_bind_1 14 117 9.2e-42 PFAM
Pfam:ATP_bind_1 115 238 4.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148909
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,895,764 (GRCm39) I899T probably damaging Het
Ahnak C T 19: 8,983,797 (GRCm39) Q1694* probably null Het
Cblc A T 7: 19,524,459 (GRCm39) Y260* probably null Het
Ccn4 T G 15: 66,791,124 (GRCm39) C309G probably damaging Het
Ceacam5 A G 7: 17,491,762 (GRCm39) T711A possibly damaging Het
Cep63 A G 9: 102,465,957 (GRCm39) S690P probably benign Het
Chia1 A T 3: 106,039,253 (GRCm39) I448F probably benign Het
Dmxl2 A T 9: 54,313,112 (GRCm39) F1712I probably damaging Het
Ecpas G A 4: 58,841,439 (GRCm39) T645I probably benign Het
Exosc3 A G 4: 45,319,695 (GRCm39) V109A probably damaging Het
Fxyd7 A G 7: 30,744,029 (GRCm39) C60R probably damaging Het
Gm17349 C A 15: 99,600,289 (GRCm39) probably benign Het
Ints12 C T 3: 132,814,603 (GRCm39) T270M possibly damaging Het
Kdm4a C T 4: 118,021,695 (GRCm39) E266K probably damaging Het
Kremen2 G T 17: 23,963,634 (GRCm39) T50N probably damaging Het
Macf1 A T 4: 123,293,159 (GRCm39) D1249E probably benign Het
Mdga2 T A 12: 66,769,854 (GRCm39) K146N probably damaging Het
Med20 G A 17: 47,922,618 (GRCm39) probably null Het
Myo18b T C 5: 113,022,354 (GRCm39) probably benign Het
Nav3 T A 10: 109,739,718 (GRCm39) T84S possibly damaging Het
Olfm2 A G 9: 20,579,953 (GRCm39) V266A probably damaging Het
Or5b101 A T 19: 13,005,095 (GRCm39) Y199* probably null Het
Or5b123 C T 19: 13,596,915 (GRCm39) H87Y probably benign Het
Or6c69b T A 10: 129,627,327 (GRCm39) I44F probably damaging Het
Pthlh A T 6: 147,164,766 (GRCm39) probably null Het
Rpap3 C T 15: 97,601,082 (GRCm39) probably null Het
Rprd2 A G 3: 95,672,725 (GRCm39) S893P probably benign Het
Sacm1l G A 9: 123,377,927 (GRCm39) G69D probably damaging Het
Slc27a4 T C 2: 29,701,261 (GRCm39) S351P probably benign Het
Sobp C G 10: 42,898,415 (GRCm39) R390P probably damaging Het
Spata7 T A 12: 98,614,689 (GRCm39) M107K possibly damaging Het
Sri G A 5: 8,113,755 (GRCm39) probably null Het
Stab2 T C 10: 86,805,735 (GRCm39) I204V probably benign Het
Synm T C 7: 67,384,804 (GRCm39) I511V probably damaging Het
Tbr1 T C 2: 61,635,373 (GRCm39) S108P probably benign Het
Tln1 A G 4: 43,555,333 (GRCm39) F197S probably damaging Het
Tmem167b C T 3: 108,467,537 (GRCm39) G46R probably benign Het
Tmprss11g T C 5: 86,638,585 (GRCm39) K301R probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trpm2 C T 10: 77,765,122 (GRCm39) V960M possibly damaging Het
Ube3a G A 7: 58,926,334 (GRCm39) D371N possibly damaging Het
Vmn2r57 A T 7: 41,078,225 (GRCm39) F78I probably benign Het
Other mutations in Gpn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:Gpn2 APN 4 133,311,813 (GRCm39) missense possibly damaging 0.95
IGL02207:Gpn2 APN 4 133,311,947 (GRCm39) missense possibly damaging 0.69
R0013:Gpn2 UTSW 4 133,312,103 (GRCm39) missense probably damaging 1.00
R4233:Gpn2 UTSW 4 133,312,016 (GRCm39) missense probably damaging 1.00
R4328:Gpn2 UTSW 4 133,315,919 (GRCm39) missense probably benign
R5516:Gpn2 UTSW 4 133,312,190 (GRCm39) splice site probably null
R7641:Gpn2 UTSW 4 133,315,970 (GRCm39) missense probably null 0.14
R7658:Gpn2 UTSW 4 133,318,687 (GRCm39) missense probably benign 0.01
R7690:Gpn2 UTSW 4 133,318,693 (GRCm39) missense probably damaging 0.99
R7747:Gpn2 UTSW 4 133,313,356 (GRCm39) missense probably benign 0.02
R8137:Gpn2 UTSW 4 133,315,873 (GRCm39) missense possibly damaging 0.88
R8516:Gpn2 UTSW 4 133,312,142 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAGGACTGAACCCAGGGCTTTAC -3'
(R):5'- TGCTCATTCACACATGGGAGGAAAC -3'

Sequencing Primer
(F):5'- gtgttaggaacggaacccag -3'
(R):5'- ACTGAATGAAGTCTGCTCCTG -3'
Posted On 2013-10-16