Incidental Mutation 'R8021:Gtpbp2'
ID 617400
Institutional Source Beutler Lab
Gene Symbol Gtpbp2
Ensembl Gene ENSMUSG00000023952
Gene Name GTP binding protein 2
Synonyms nmf205
MMRRC Submission 067460-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # R8021 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46471958-46480296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46475195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 97 (R97C)
Ref Sequence ENSEMBL: ENSMUSP00000024748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024748] [ENSMUST00000166563] [ENSMUST00000169383] [ENSMUST00000172170]
AlphaFold Q3UJK4
Predicted Effect possibly damaging
Transcript: ENSMUST00000024748
AA Change: R97C

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000024748
Gene: ENSMUSG00000023952
AA Change: R97C

DomainStartEndE-ValueType
low complexity region 26 57 N/A INTRINSIC
Pfam:GTP_EFTU 172 412 4.2e-27 PFAM
low complexity region 418 429 N/A INTRINSIC
Pfam:GTP_EFTU_D3 499 589 8.2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166252
Predicted Effect probably damaging
Transcript: ENSMUST00000166563
AA Change: R88C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127896
Gene: ENSMUSG00000023952
AA Change: R88C

DomainStartEndE-ValueType
low complexity region 26 57 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166701
SMART Domains Protein: ENSMUSP00000131772
Gene: ENSMUSG00000023952

DomainStartEndE-ValueType
SCOP:d1f60a2 69 111 1e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169383
SMART Domains Protein: ENSMUSP00000133050
Gene: ENSMUSG00000023952

DomainStartEndE-ValueType
low complexity region 26 51 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000172170
AA Change: R97C

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128517
Gene: ENSMUSG00000023952
AA Change: R97C

DomainStartEndE-ValueType
low complexity region 26 57 N/A INTRINSIC
Pfam:GTP_EFTU 172 411 9.4e-27 PFAM
low complexity region 418 429 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik A G 11: 106,916,753 (GRCm39) I12V unknown Het
A630010A05Rik C T 16: 14,407,110 (GRCm39) T13I Het
Acsm5 A G 7: 119,141,616 (GRCm39) E537G possibly damaging Het
Adam25 C A 8: 41,207,796 (GRCm39) A354E probably damaging Het
Adamts3 T C 5: 89,831,043 (GRCm39) K1004E possibly damaging Het
Ap3d1 C A 10: 80,550,135 (GRCm39) V699L probably benign Het
Arel1 T G 12: 84,981,732 (GRCm39) H216P possibly damaging Het
Armc12 T A 17: 28,749,879 (GRCm39) F8I probably benign Het
Armh3 C T 19: 45,945,180 (GRCm39) probably null Het
Ascc3 T A 10: 50,607,744 (GRCm39) M1416K probably benign Het
Catsperb A C 12: 101,554,322 (GRCm39) N672T probably benign Het
Ccdc30 T C 4: 119,209,876 (GRCm39) H291R probably benign Het
Cd33 A G 7: 43,178,262 (GRCm39) V371A unknown Het
Cpt1b A T 15: 89,305,629 (GRCm39) M362K probably benign Het
Dusp5 T A 19: 53,517,929 (GRCm39) S61T probably benign Het
Eogt T G 6: 97,111,291 (GRCm39) D190A probably damaging Het
Fat3 T A 9: 15,910,405 (GRCm39) I1866F probably damaging Het
Fer1l4 T A 2: 155,864,511 (GRCm39) I1668F probably damaging Het
Foxn3 A T 12: 99,355,161 (GRCm39) M1K probably null Het
Frs3 T A 17: 48,014,039 (GRCm39) V244E probably damaging Het
Grik1 C T 16: 87,711,110 (GRCm39) V832I Het
Gtf2ird2 T A 5: 134,232,175 (GRCm39) V242E probably benign Het
Habp2 T A 19: 56,302,485 (GRCm39) V263E probably benign Het
Iars2 T A 1: 185,054,654 (GRCm39) I337L probably benign Het
Ifi204 T C 1: 173,586,919 (GRCm39) probably benign Het
Itih2 T C 2: 10,110,463 (GRCm39) T543A probably benign Het
Kdm2b A G 5: 123,070,982 (GRCm39) S372P probably damaging Het
Kit T A 5: 75,776,151 (GRCm39) V311E possibly damaging Het
Kmt2c C G 5: 25,492,117 (GRCm39) V4230L possibly damaging Het
Lao1 T C 4: 118,825,674 (GRCm39) I498T probably damaging Het
Lrp1 G T 10: 127,384,215 (GRCm39) D3641E possibly damaging Het
Mapk8ip1 A T 2: 92,216,760 (GRCm39) S477T possibly damaging Het
Mast3 C T 8: 71,240,896 (GRCm39) G218S probably benign Het
Mical1 T C 10: 41,358,720 (GRCm39) V546A probably damaging Het
Nck2 T C 1: 43,593,420 (GRCm39) V209A probably benign Het
Ndufs4 A G 13: 114,444,351 (GRCm39) probably null Het
Nek3 C T 8: 22,647,206 (GRCm39) V139M probably damaging Het
Or10v5 T C 19: 11,806,256 (GRCm39) I45V probably benign Het
Or5ak24 A T 2: 85,260,996 (GRCm39) M59K probably damaging Het
Or7e171-ps1 A C 9: 19,853,375 (GRCm39) Y120* probably null Het
Or8b9 T A 9: 37,766,592 (GRCm39) H159Q probably damaging Het
Otog A T 7: 45,916,766 (GRCm39) N901I probably damaging Het
Pclo A C 5: 14,589,798 (GRCm39) Q699H unknown Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pde12 A T 14: 26,386,854 (GRCm39) Y551* probably null Het
Pigg A G 5: 108,467,805 (GRCm39) D268G probably damaging Het
Ppp1r21 A G 17: 88,856,935 (GRCm39) D130G probably benign Het
Psip1 T C 4: 83,378,192 (GRCm39) T435A possibly damaging Het
Rad54l2 T C 9: 106,596,840 (GRCm39) S189G probably benign Het
Rgs14 T C 13: 55,531,569 (GRCm39) C498R probably damaging Het
Ripply3 C A 16: 94,129,369 (GRCm39) A5E probably benign Het
Rps6ka4 T C 19: 6,807,777 (GRCm39) D676G probably benign Het
Rsbn1 T C 3: 103,835,898 (GRCm39) L312S possibly damaging Het
Secisbp2 T A 13: 51,819,664 (GRCm39) *415R probably null Het
Sephs1 T A 2: 4,911,434 (GRCm39) F336Y probably benign Het
Setdb2 A T 14: 59,660,833 (GRCm39) Y103* probably null Het
Slit2 T A 5: 48,459,834 (GRCm39) C1371* probably null Het
Spata31e4 A G 13: 50,855,130 (GRCm39) N256S possibly damaging Het
Stab2 C T 10: 86,741,403 (GRCm39) A1239T possibly damaging Het
Taf4b T A 18: 14,937,581 (GRCm39) V218E probably damaging Het
Tars2 T C 3: 95,654,826 (GRCm39) N393S probably benign Het
Tbc1d30 A G 10: 121,103,448 (GRCm39) M528T probably benign Het
Tchp A G 5: 114,856,478 (GRCm39) E363G probably damaging Het
Tec T A 5: 72,914,812 (GRCm39) N568I probably benign Het
Ticam1 A G 17: 56,577,089 (GRCm39) S669P unknown Het
Tnk1 A G 11: 69,745,810 (GRCm39) S372P probably benign Het
Tnpo2 G A 8: 85,781,835 (GRCm39) A847T probably damaging Het
Tsc1 A T 2: 28,576,901 (GRCm39) I1068F possibly damaging Het
Ttc14 T A 3: 33,863,270 (GRCm39) Y559* probably null Het
Ttc41 C A 10: 86,569,578 (GRCm39) T652N probably benign Het
Tut1 T A 19: 8,932,873 (GRCm39) S69T probably benign Het
Uck1 T C 2: 32,149,929 (GRCm39) S40G probably benign Het
Vmn2r76 G A 7: 85,874,958 (GRCm39) T673I probably damaging Het
Vps13d G T 4: 144,875,245 (GRCm39) P1760H Het
Zbp1 T C 2: 173,051,003 (GRCm39) N289S possibly damaging Het
Zc3hav1l C A 6: 38,274,882 (GRCm39) probably benign Het
Zzef1 A T 11: 72,714,242 (GRCm39) D244V probably damaging Het
Other mutations in Gtpbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Gtpbp2 APN 17 46,479,180 (GRCm39) missense probably damaging 1.00
IGL01534:Gtpbp2 APN 17 46,474,430 (GRCm39) missense probably damaging 1.00
IGL02272:Gtpbp2 APN 17 46,475,707 (GRCm39) missense probably benign 0.00
IGL02864:Gtpbp2 APN 17 46,476,520 (GRCm39) missense probably benign 0.00
R0894:Gtpbp2 UTSW 17 46,476,895 (GRCm39) missense possibly damaging 0.85
R1575:Gtpbp2 UTSW 17 46,476,869 (GRCm39) missense probably damaging 1.00
R1632:Gtpbp2 UTSW 17 46,479,518 (GRCm39) missense probably benign
R1639:Gtpbp2 UTSW 17 46,476,697 (GRCm39) splice site probably null
R1786:Gtpbp2 UTSW 17 46,472,128 (GRCm39) missense probably benign 0.01
R2132:Gtpbp2 UTSW 17 46,472,128 (GRCm39) missense probably benign 0.01
R2133:Gtpbp2 UTSW 17 46,472,128 (GRCm39) missense probably benign 0.01
R2223:Gtpbp2 UTSW 17 46,478,153 (GRCm39) missense probably benign
R3742:Gtpbp2 UTSW 17 46,476,808 (GRCm39) missense probably benign 0.03
R4060:Gtpbp2 UTSW 17 46,478,253 (GRCm39) missense probably damaging 1.00
R4061:Gtpbp2 UTSW 17 46,478,253 (GRCm39) missense probably damaging 1.00
R4064:Gtpbp2 UTSW 17 46,478,253 (GRCm39) missense probably damaging 1.00
R4387:Gtpbp2 UTSW 17 46,477,284 (GRCm39) missense probably benign 0.03
R4469:Gtpbp2 UTSW 17 46,472,239 (GRCm39) missense probably damaging 0.99
R4583:Gtpbp2 UTSW 17 46,472,071 (GRCm39) missense probably damaging 0.99
R4664:Gtpbp2 UTSW 17 46,472,080 (GRCm39) missense probably benign 0.33
R4724:Gtpbp2 UTSW 17 46,478,147 (GRCm39) critical splice acceptor site probably null
R5338:Gtpbp2 UTSW 17 46,478,760 (GRCm39) missense probably damaging 1.00
R5368:Gtpbp2 UTSW 17 46,477,230 (GRCm39) splice site probably benign
R5832:Gtpbp2 UTSW 17 46,478,788 (GRCm39) missense probably damaging 0.98
R6490:Gtpbp2 UTSW 17 46,479,147 (GRCm39) missense probably benign 0.01
R6526:Gtpbp2 UTSW 17 46,475,037 (GRCm39) splice site probably null
R6723:Gtpbp2 UTSW 17 46,479,202 (GRCm39) missense probably benign 0.05
R6860:Gtpbp2 UTSW 17 46,478,914 (GRCm39) intron probably benign
R7336:Gtpbp2 UTSW 17 46,472,239 (GRCm39) missense probably damaging 0.99
R7662:Gtpbp2 UTSW 17 46,477,361 (GRCm39) missense probably benign 0.00
R7710:Gtpbp2 UTSW 17 46,478,713 (GRCm39) missense possibly damaging 0.92
R8334:Gtpbp2 UTSW 17 46,477,368 (GRCm39) missense possibly damaging 0.89
R9013:Gtpbp2 UTSW 17 46,475,740 (GRCm39) missense probably benign 0.05
R9445:Gtpbp2 UTSW 17 46,478,757 (GRCm39) missense probably damaging 0.99
R9715:Gtpbp2 UTSW 17 46,478,301 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CGGGGTTTTAAGTGGACAGA -3'
(R):5'- CTCTTTGTCAAGGAATCAAGACAGA -3'

Sequencing Primer
(F):5'- GGTTTTAAGTGGACAGAGTTGC -3'
(R):5'- CGTCCCAAGTCCCTCTGG -3'
Posted On 2020-01-23