Incidental Mutation 'R9445:Gtpbp2'
ID 713920
Institutional Source Beutler Lab
Gene Symbol Gtpbp2
Ensembl Gene ENSMUSG00000023952
Gene Name GTP binding protein 2
Synonyms nmf205
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # R9445 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46471958-46480296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 46478757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 525 (V525M)
Ref Sequence ENSEMBL: ENSMUSP00000024748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024748] [ENSMUST00000024749] [ENSMUST00000166563] [ENSMUST00000169383] [ENSMUST00000172170]
AlphaFold Q3UJK4
Predicted Effect probably damaging
Transcript: ENSMUST00000024748
AA Change: V525M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024748
Gene: ENSMUSG00000023952
AA Change: V525M

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: ENSMUST00000024749
SMART Domains Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953

DomainStartEndE-ValueType
Pfam:IMS 12 227 9.7e-53 PFAM
Pfam:IMS_C 308 435 5.8e-15 PFAM
low complexity region 515 529 N/A INTRINSIC
low complexity region 540 561 N/A INTRINSIC
PDB:2I5O|A 606 643 7e-15 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000166252
Predicted Effect probably benign
Transcript: ENSMUST00000166563
SMART Domains Protein: ENSMUSP00000127896
Gene: ENSMUSG00000023952

DomainStartEndE-ValueType
low complexity region 26 57 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000131772
Gene: ENSMUSG00000023952
AA Change: V90M

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 probably benign
Transcript: ENSMUST00000172170
AA Change: V525M

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128517
Gene: ENSMUSG00000023952
AA Change: V525M

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (72/73)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik T A 14: 41,818,174 (GRCm39) H23Q possibly damaging Het
Abca14 T C 7: 119,877,691 (GRCm39) S1069P probably benign Het
Abo A G 2: 26,733,720 (GRCm39) W160R probably damaging Het
Adgrb1 A T 15: 74,435,807 (GRCm39) probably benign Het
Ahnak2 T C 12: 112,745,978 (GRCm39) Q1624R Het
Amy2a1 T A 3: 113,325,324 (GRCm39) N90I possibly damaging Het
Bod1l C T 5: 41,974,619 (GRCm39) V2232I probably benign Het
Brsk2 T A 7: 141,538,149 (GRCm39) H98Q probably damaging Het
Caskin2 C T 11: 115,694,576 (GRCm39) V342I probably damaging Het
Ccdc13 T C 9: 121,627,156 (GRCm39) N707S probably benign Het
Cdv3 T C 9: 103,241,240 (GRCm39) E109G probably damaging Het
Coro2a C T 4: 46,540,558 (GRCm39) E454K probably benign Het
Cpq A T 15: 33,213,391 (GRCm39) I137F possibly damaging Het
Ctsj G A 13: 61,151,838 (GRCm39) T73I possibly damaging Het
Dchs2 A G 3: 83,146,284 (GRCm39) D710G probably damaging Het
Drd4 T C 7: 140,872,162 (GRCm39) V71A probably damaging Het
Eef2k T C 7: 120,457,694 (GRCm39) C18R probably benign Het
Ercc4 C A 16: 12,945,474 (GRCm39) D386E probably benign Het
F2rl2 A C 13: 95,837,622 (GRCm39) L222F probably benign Het
Fkbp4 T C 6: 128,413,580 (GRCm39) D68G probably damaging Het
Fsip2 A T 2: 82,806,132 (GRCm39) D817V probably damaging Het
Gm19410 G A 8: 36,239,652 (GRCm39) R116H possibly damaging Het
Gm9376 A T 14: 118,504,502 (GRCm39) probably benign Het
Golim4 A T 3: 75,813,775 (GRCm39) F150I probably damaging Het
Hook1 A G 4: 95,901,499 (GRCm39) N486D probably benign Het
Hook1 A G 4: 95,903,049 (GRCm39) S513G probably benign Het
Hoxd9 A T 2: 74,528,415 (GRCm39) T6S probably damaging Het
Hsd3b2 A T 3: 98,619,051 (GRCm39) L298Q possibly damaging Het
Idh3b A C 2: 130,123,572 (GRCm39) S172A probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Ighv5-17 T A 12: 113,822,858 (GRCm39) T88S possibly damaging Het
Il16 T A 7: 83,337,380 (GRCm39) K112* probably null Het
Irag1 A T 7: 110,545,161 (GRCm39) I45N possibly damaging Het
Kalrn T A 16: 33,805,600 (GRCm39) I2646F probably benign Het
Kcnt1 G T 2: 25,767,959 (GRCm39) G23C probably damaging Het
Kirrel2 T A 7: 30,150,260 (GRCm39) I523F probably damaging Het
Lrrc3b A T 14: 15,358,552 (GRCm38) L18H probably damaging Het
Med13l T A 5: 118,862,214 (GRCm39) S386T probably benign Het
Mettl6 C T 14: 31,209,527 (GRCm39) probably null Het
Mocs2 C T 13: 114,961,879 (GRCm39) A120V possibly damaging Het
Mrpl39 T C 16: 84,531,346 (GRCm39) T74A probably benign Het
Myh2 T C 11: 67,069,754 (GRCm39) F367L probably damaging Het
N4bp1 G A 8: 87,587,238 (GRCm39) Q567* probably null Het
Naf1 A G 8: 67,336,097 (GRCm39) I341M probably damaging Het
Ncoa6 A T 2: 155,250,063 (GRCm39) N1080K probably benign Het
Nell1 C A 7: 49,632,474 (GRCm39) L36I possibly damaging Het
Nrxn2 A G 19: 6,522,448 (GRCm39) D446G probably damaging Het
Nrxn3 T A 12: 89,499,737 (GRCm39) C709* probably null Het
Or13p4 T G 4: 118,547,416 (GRCm39) T78P probably damaging Het
Or2ag17 A G 7: 106,389,464 (GRCm39) V248A probably damaging Het
Or2n1 A C 17: 38,486,694 (GRCm39) T240P probably damaging Het
Or2t26 C G 11: 49,039,879 (GRCm39) A265G probably benign Het
Or8g19 T A 9: 39,055,766 (GRCm39) Y123* probably null Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pbx3 A G 2: 34,114,555 (GRCm39) probably benign Het
Pcnx1 T C 12: 81,964,981 (GRCm39) S383P probably damaging Het
Pde6h T G 6: 136,936,359 (GRCm39) F34C probably damaging Het
Pnliprp1 A G 19: 58,720,628 (GRCm39) probably benign Het
Pramel21 T C 4: 143,343,795 (GRCm39) L365P probably damaging Het
Prl8a9 C T 13: 27,748,498 (GRCm39) probably null Het
Qdpr T C 5: 45,596,669 (GRCm39) N165S probably benign Het
Rabl2 A G 15: 89,468,148 (GRCm39) F158L probably damaging Het
Rrp7a G T 15: 83,004,084 (GRCm39) C117* probably null Het
Ryr2 T C 13: 11,787,463 (GRCm39) Y970C probably damaging Het
Sf3b3 T C 8: 111,552,774 (GRCm39) T503A possibly damaging Het
Sipa1 T C 19: 5,704,198 (GRCm39) E708G probably damaging Het
Skor2 T A 18: 76,948,811 (GRCm39) S844R possibly damaging Het
Slc6a7 C T 18: 61,138,815 (GRCm39) C231Y probably damaging Het
Smgc A T 15: 91,729,665 (GRCm39) E206D probably benign Het
Tanc2 T C 11: 105,758,290 (GRCm39) S684P possibly damaging Het
Tep1 T C 14: 51,082,967 (GRCm39) T1014A possibly damaging Het
Tex19.1 A G 11: 121,038,283 (GRCm39) S214G probably benign Het
Trmt6 G A 2: 132,650,774 (GRCm39) S278L probably benign Het
Use1 T C 8: 71,821,200 (GRCm39) S156P probably benign Het
Znrf1 G A 8: 112,335,954 (GRCm39) V152M 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
R8021:Gtpbp2 UTSW 17 46,475,195 (GRCm39) missense possibly damaging 0.91
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
R9715:Gtpbp2 UTSW 17 46,478,301 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CCTCTTGGAGGCCTTTCTTAGG -3'
(R):5'- ATGTGACCAGGGACTCTCAG -3'

Sequencing Primer
(F):5'- CTCTGAAGGGTCTAGAGTGGC -3'
(R):5'- AGGGACTCTCAGCCAGATCTG -3'
Posted On 2022-06-15