Incidental Mutation 'R4233:Gpn2'
ID 320952
Institutional Source Beutler Lab
Gene Symbol Gpn2
Ensembl Gene ENSMUSG00000028848
Gene Name GPN-loop GTPase 2
Synonyms Atpbd1b
MMRRC Submission 041642-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R4233 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 133311684-133319046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 133312016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 83 (Y83N)
Ref Sequence ENSEMBL: ENSMUSP00000030661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030661] [ENSMUST00000030662] [ENSMUST00000105899]
AlphaFold Q8VEJ1
Predicted Effect probably damaging
Transcript: ENSMUST00000030661
AA Change: Y83N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030661
Gene: ENSMUSG00000028848
AA Change: Y83N

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 damaging
Transcript: ENSMUST00000105899
AA Change: Y83N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101519
Gene: ENSMUSG00000028848
AA Change: Y83N

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
Meta Mutation Damage Score 0.8281 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A T 5: 138,562,454 (GRCm39) Y96N probably damaging Het
Abca15 C T 7: 120,002,202 (GRCm39) Q1572* probably null Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Aph1c A G 9: 66,740,603 (GRCm39) F41S probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Arhgef40 T C 14: 52,227,628 (GRCm39) V458A possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Ccar2 T C 14: 70,388,540 (GRCm39) T169A possibly damaging Het
Cfap58 G A 19: 47,963,994 (GRCm39) V541M possibly damaging Het
Coro2b T C 9: 62,333,467 (GRCm39) E376G possibly damaging Het
Dnah11 T C 12: 117,880,526 (GRCm39) T3865A probably damaging Het
Dync2h1 T C 9: 7,134,360 (GRCm39) E1549G probably benign Het
Ercc6l2 T C 13: 64,019,982 (GRCm39) probably benign Het
Fbxo32 G T 15: 58,055,729 (GRCm39) T135K possibly damaging Het
Fhip2b A C 14: 70,824,318 (GRCm39) V473G probably damaging Het
Fras1 A T 5: 96,862,235 (GRCm39) I2205F possibly damaging Het
Gm12034 A G 11: 20,396,785 (GRCm39) noncoding transcript Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Gm5108 C A 5: 68,132,496 (GRCm39) T55K unknown Het
Gpa33 A T 1: 165,974,340 (GRCm39) D59V probably damaging Het
Gzf1 C T 2: 148,528,453 (GRCm39) P460S possibly damaging Het
Ifi203 A T 1: 173,764,099 (GRCm39) S124R possibly damaging Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ldlrap1 T A 4: 134,484,649 (GRCm39) probably null Het
Madd T C 2: 91,008,581 (GRCm39) E107G probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or52n4 A G 7: 104,294,195 (GRCm39) V126A probably benign Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pam A T 1: 97,792,119 (GRCm39) V434D possibly damaging Het
Plxnd1 T C 6: 115,942,914 (GRCm39) N1257D probably benign Het
Prkdc C T 16: 15,653,783 (GRCm39) A3870V probably benign Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 T C 13: 11,765,611 (GRCm39) D1375G probably benign Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc13a2 A G 11: 78,294,361 (GRCm39) probably benign Het
Slc7a13 T C 4: 19,819,070 (GRCm39) F90S probably damaging Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Stard13 A G 5: 150,986,164 (GRCm39) S331P probably benign Het
Sult2a8 T A 7: 14,147,608 (GRCm39) I228L probably benign Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tshz1 C A 18: 84,034,320 (GRCm39) E29D probably benign Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null 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
R0847:Gpn2 UTSW 4 133,315,906 (GRCm39) missense probably benign 0.41
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'- AGTTTACTTGGTGAGGCGCC -3'
(R):5'- ATCTCCCAATGTAACTTGGGG -3'

Sequencing Primer
(F):5'- AAGACCACGTACTGCCTGG -3'
(R):5'- AGGGATTCCTTCTGCCCGAC -3'
Posted On 2015-06-12