Incidental Mutation 'R4064:Gtpbp2'
ID 316034
Institutional Source Beutler Lab
Gene Symbol Gtpbp2
Ensembl Gene ENSMUSG00000023952
Gene Name GTP binding protein 2
Synonyms nmf205
MMRRC Submission 041620-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # R4064 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 46471958-46480296 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 46478253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 467 (R467H)
Ref Sequence ENSEMBL: ENSMUSP00000024748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024748] [ENSMUST00000024749] [ENSMUST00000166563] [ENSMUST00000172170] [ENSMUST00000169383]
AlphaFold Q3UJK4
Predicted Effect probably damaging
Transcript: ENSMUST00000024748
AA Change: R467H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024748
Gene: ENSMUSG00000023952
AA Change: R467H

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 noncoding transcript
Transcript: ENSMUST00000163941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164338
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 unknown
Transcript: ENSMUST00000166701
AA Change: R32H
SMART Domains Protein: ENSMUSP00000131772
Gene: ENSMUSG00000023952
AA Change: R32H

DomainStartEndE-ValueType
SCOP:d1f60a2 69 111 1e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169778
Predicted Effect probably damaging
Transcript: ENSMUST00000172170
AA Change: R467H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128517
Gene: ENSMUSG00000023952
AA Change: R467H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166663
Predicted Effect probably benign
Transcript: ENSMUST00000169383
SMART Domains Protein: ENSMUSP00000133050
Gene: ENSMUSG00000023952

DomainStartEndE-ValueType
low complexity region 26 51 N/A INTRINSIC
Meta Mutation Damage Score 0.1751 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (44/44)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T G 19: 43,793,432 (GRCm39) Y361* probably null Het
Afmid A G 11: 117,727,354 (GRCm39) T293A probably benign Het
Ago4 A T 4: 126,409,655 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Axl C A 7: 25,463,445 (GRCm39) V602L probably benign Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Duoxa2 G T 2: 122,131,058 (GRCm39) S73I probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Etfdh T C 3: 79,513,098 (GRCm39) E435G possibly damaging Het
Fbxo15 C T 18: 84,977,243 (GRCm39) R52C probably damaging Het
Fosb G T 7: 19,039,117 (GRCm39) C186* probably null Het
Hnrnpll T C 17: 80,340,201 (GRCm39) H526R probably benign Het
Mphosph9 A T 5: 124,428,980 (GRCm39) F683I probably damaging Het
Mrps24 G A 11: 5,654,676 (GRCm39) R93* probably null Het
Nhlh2 A G 3: 101,920,052 (GRCm39) D28G probably benign Het
Or1e16 A T 11: 73,286,348 (GRCm39) S167T probably benign Het
Or5w17 A G 2: 87,584,133 (GRCm39) F68S probably damaging Het
Otogl A T 10: 107,626,510 (GRCm39) D1451E probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Parp4 A G 14: 56,861,597 (GRCm39) S977G probably benign Het
Psmb7 T C 2: 38,530,188 (GRCm39) T98A probably damaging Het
Pus10 A G 11: 23,678,983 (GRCm39) K485R probably damaging Het
Rab11fip3 T C 17: 26,243,368 (GRCm39) D588G probably damaging Het
Rgl2 T A 17: 34,156,082 (GRCm39) D723E possibly damaging Het
Rp1 A T 1: 4,415,623 (GRCm39) S1830T probably benign Het
Rreb1 T C 13: 38,114,293 (GRCm39) S551P probably benign Het
Serpinb7 A T 1: 107,373,766 (GRCm39) E127D probably benign Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Slc26a9 T C 1: 131,690,925 (GRCm39) Y568H probably benign Het
Tars3 G A 7: 65,302,018 (GRCm39) A181T possibly damaging Het
Tbc1d2b T A 9: 90,100,975 (GRCm39) K672* probably null Het
Tmem59l T C 8: 70,938,369 (GRCm39) T168A probably damaging Het
Tshz2 A G 2: 169,804,245 (GRCm39) probably benign Het
Vmn1r9 T C 6: 57,048,306 (GRCm39) F127S probably damaging Het
Zfp282 G A 6: 47,857,028 (GRCm39) R87H probably damaging Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Zscan22 C T 7: 12,640,941 (GRCm39) T395I 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
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
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'- GTGACCTTGGCAAAGAAGTCAG -3'
(R):5'- AGCATCCTACGCTCTTTCAGTAG -3'

Sequencing Primer
(F):5'- TCAGAGGGAGCTATGCTGACAC -3'
(R):5'- TCAGTAGTCTATATAGCCAGGCC -3'
Posted On 2015-05-15