Incidental Mutation 'IGL01728:Gpn2'
ID 105370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpn2
Ensembl Gene ENSMUSG00000028848
Gene Name GPN-loop GTPase 2
Synonyms Atpbd1b
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL01728
Quality Score
Status
Chromosome 4
Chromosomal Location 133311684-133319046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133311813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 15 (I15T)
Ref Sequence ENSEMBL: ENSMUSP00000030661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030661] [ENSMUST00000030662] [ENSMUST00000105899]
AlphaFold Q8VEJ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000030661
AA Change: I15T

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030661
Gene: ENSMUSG00000028848
AA Change: I15T

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 possibly damaging
Transcript: ENSMUST00000105899
AA Change: I15T

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101519
Gene: ENSMUSG00000028848
AA Change: I15T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154648
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,668 (GRCm39) S54P probably benign Het
Adamtsl1 T C 4: 86,029,074 (GRCm39) I71T probably damaging Het
Agbl3 T C 6: 34,759,092 (GRCm39) M1T probably null Het
Ankib1 A G 5: 3,751,992 (GRCm39) probably benign Het
Brinp3 T G 1: 146,707,289 (GRCm39) probably null Het
Chuk T C 19: 44,087,085 (GRCm39) N138S possibly damaging Het
Dock7 G A 4: 98,850,568 (GRCm39) T1588M probably damaging Het
Ehbp1 G A 11: 22,051,115 (GRCm39) T479I probably damaging Het
H3c2 G A 13: 23,936,712 (GRCm39) R117H probably benign Het
Haao A G 17: 84,142,658 (GRCm39) F149S probably damaging Het
Iqsec3 T A 6: 121,389,623 (GRCm39) probably benign Het
Lrrc39 G T 3: 116,373,149 (GRCm39) probably benign Het
Ltbp2 C A 12: 84,837,783 (GRCm39) S1199I probably damaging Het
Mageb3 G T 2: 121,784,941 (GRCm39) P254T probably damaging Het
Mapkbp1 C T 2: 119,854,302 (GRCm39) P1300S probably damaging Het
Mtfmt T A 9: 65,343,100 (GRCm39) L2H probably damaging Het
Myo18a G T 11: 77,668,682 (GRCm39) G181W probably damaging Het
Mzf1 T C 7: 12,785,654 (GRCm39) probably benign Het
Nfatc2 A T 2: 168,378,162 (GRCm39) L280Q probably damaging Het
Nudt15 A G 14: 73,760,736 (GRCm39) probably null Het
Or51k2 T C 7: 103,595,959 (GRCm39) F62S probably damaging Het
Or8b53 A G 9: 38,667,391 (GRCm39) M136V possibly damaging Het
Parp14 A G 16: 35,677,805 (GRCm39) V721A probably damaging Het
Pbp2 G T 6: 135,287,073 (GRCm39) N91K probably damaging Het
Pde7b C A 10: 20,310,210 (GRCm39) probably null Het
Pramel7 C A 2: 87,321,674 (GRCm39) E120D possibly damaging Het
Rbbp5 C T 1: 132,425,818 (GRCm39) T516M probably benign Het
Slc16a12 A G 19: 34,668,071 (GRCm39) V28A possibly damaging Het
Slc6a9 T C 4: 117,721,802 (GRCm39) F276S probably damaging Het
Spata9 A T 13: 76,141,193 (GRCm39) I147L probably benign Het
Tenm4 A T 7: 96,545,271 (GRCm39) Y2429F probably damaging Het
Tmtc1 A G 6: 148,312,564 (GRCm39) S212P probably benign Het
Unc5cl A T 17: 48,766,991 (GRCm39) I122F probably damaging Het
Unc79 T A 12: 103,131,943 (GRCm39) F2350I probably damaging Het
Other mutations in Gpn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0847:Gpn2 UTSW 4 133,315,906 (GRCm39) missense probably benign 0.41
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
Posted On 2014-01-21