Incidental Mutation 'R2048:Gtpbp6'
ID 222197
Institutional Source Beutler Lab
Gene Symbol Gtpbp6
Ensembl Gene ENSMUSG00000033434
Gene Name GTP binding protein 6 (putative)
Synonyms pgpl, Pgbpll
MMRRC Submission 040055-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2048 (G1)
Quality Score 201
Status Validated
Chromosome 5
Chromosomal Location 110251841-110256063 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 110254931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 87 (V87G)
Ref Sequence ENSEMBL: ENSMUSP00000117817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077220] [ENSMUST00000086686] [ENSMUST00000086687] [ENSMUST00000112528] [ENSMUST00000112534] [ENSMUST00000135409] [ENSMUST00000147631] [ENSMUST00000140538]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000077220
AA Change: V150G

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000076458
Gene: ENSMUSG00000033434
AA Change: V150G

DomainStartEndE-ValueType
low complexity region 50 83 N/A INTRINSIC
Pfam:GTP-bdg_N 107 198 9.1e-15 PFAM
Pfam:GTP-bdg_M 200 279 1.9e-17 PFAM
Pfam:MMR_HSR1 286 404 3.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086686
SMART Domains Protein: ENSMUSP00000083891
Gene: ENSMUSG00000023284

DomainStartEndE-ValueType
KRAB 6 66 3.75e-28 SMART
low complexity region 147 159 N/A INTRINSIC
ZnF_C2H2 200 222 1.36e-2 SMART
ZnF_C2H2 228 250 4.38e1 SMART
ZnF_C2H2 305 327 1.18e-2 SMART
ZnF_C2H2 333 355 5.14e-3 SMART
ZnF_C2H2 361 383 9.73e-4 SMART
ZnF_C2H2 389 411 4.99e1 SMART
ZnF_C2H2 443 465 5.4e1 SMART
ZnF_C2H2 471 493 1.3e-4 SMART
ZnF_C2H2 499 521 4.24e-4 SMART
ZnF_C2H2 527 549 1.95e-3 SMART
ZnF_C2H2 555 577 2.09e-3 SMART
ZnF_C2H2 583 605 1.2e-3 SMART
ZnF_C2H2 611 633 1.79e-2 SMART
ZnF_C2H2 639 661 2.53e-2 SMART
ZnF_C2H2 667 689 2.09e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086687
SMART Domains Protein: ENSMUSP00000083892
Gene: ENSMUSG00000064247

DomainStartEndE-ValueType
SCOP:d2ptd__ 48 355 1e-70 SMART
PDB:1AOD|A 57 228 1e-12 PDB
Blast:PLCXc 70 228 8e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112528
SMART Domains Protein: ENSMUSP00000108147
Gene: ENSMUSG00000023284

DomainStartEndE-ValueType
KRAB 6 66 3.75e-28 SMART
low complexity region 147 159 N/A INTRINSIC
ZnF_C2H2 200 222 1.36e-2 SMART
ZnF_C2H2 228 250 4.38e1 SMART
ZnF_C2H2 305 327 1.18e-2 SMART
ZnF_C2H2 333 355 5.14e-3 SMART
ZnF_C2H2 361 383 9.73e-4 SMART
ZnF_C2H2 389 411 4.99e1 SMART
ZnF_C2H2 443 465 5.4e1 SMART
ZnF_C2H2 471 493 1.3e-4 SMART
ZnF_C2H2 499 521 4.24e-4 SMART
ZnF_C2H2 527 549 1.95e-3 SMART
ZnF_C2H2 555 577 2.09e-3 SMART
ZnF_C2H2 583 605 1.2e-3 SMART
ZnF_C2H2 611 633 1.79e-2 SMART
ZnF_C2H2 639 661 2.53e-2 SMART
ZnF_C2H2 667 689 2.09e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112534
SMART Domains Protein: ENSMUSP00000108153
Gene: ENSMUSG00000064247

DomainStartEndE-ValueType
SCOP:d2ptd__ 1 111 2e-21 SMART
PDB:1AOD|A 7 95 3e-6 PDB
Blast:PLCXc 15 121 4e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125748
Predicted Effect probably damaging
Transcript: ENSMUST00000135409
AA Change: V87G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117817
Gene: ENSMUSG00000033434
AA Change: V87G

DomainStartEndE-ValueType
low complexity region 162 173 N/A INTRINSIC
coiled coil region 185 218 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144089
Predicted Effect probably benign
Transcript: ENSMUST00000147631
SMART Domains Protein: ENSMUSP00000122236
Gene: ENSMUSG00000023284

DomainStartEndE-ValueType
KRAB 6 66 3.75e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199496
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A G 9: 70,647,357 (GRCm39) D19G possibly damaging Het
Adhfe1 A G 1: 9,633,778 (GRCm39) K342R probably benign Het
Adk A G 14: 21,368,244 (GRCm39) N223S probably damaging Het
Aff4 A G 11: 53,289,212 (GRCm39) S454G probably benign Het
Ahnak T A 19: 8,984,420 (GRCm39) N1901K probably damaging Het
Camsap1 T C 2: 25,819,755 (GRCm39) T1578A probably benign Het
Ccdc63 A C 5: 122,268,350 (GRCm39) probably null Het
Ceacam1 G T 7: 25,176,113 (GRCm39) S27Y probably benign Het
Cit T C 5: 116,024,872 (GRCm39) probably null Het
Cntn4 A G 6: 106,414,825 (GRCm39) probably benign Het
Cyp2d26 A G 15: 82,676,928 (GRCm39) probably benign Het
Cyp3a13 A T 5: 137,908,237 (GRCm39) V204E probably damaging Het
Cyp51 G A 5: 4,136,636 (GRCm39) probably benign Het
Dipk1a T C 5: 108,057,886 (GRCm39) D179G probably damaging Het
Epb41l4b T G 4: 57,142,866 (GRCm39) E96D probably benign Het
Epg5 A G 18: 78,067,202 (GRCm39) E2221G probably damaging Het
Fbxo21 T A 5: 118,146,169 (GRCm39) N597K probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fsip1 C A 2: 118,072,197 (GRCm39) E195D probably damaging Het
Gm10152 T C 7: 144,317,049 (GRCm39) F35L unknown Het
Hal A G 10: 93,327,002 (GRCm39) T176A probably damaging Het
Il12rb2 G T 6: 67,337,529 (GRCm39) N117K probably benign Het
Kalrn A G 16: 34,072,680 (GRCm39) V734A probably benign Het
Klf7 A G 1: 64,117,913 (GRCm39) V228A possibly damaging Het
Kng1 A G 16: 22,877,354 (GRCm39) Y54C probably damaging Het
Lpcat2 T G 8: 93,596,471 (GRCm39) N169K possibly damaging Het
Magohb A T 6: 131,266,385 (GRCm39) S40R probably damaging Het
Mgam A G 6: 40,633,363 (GRCm39) D186G possibly damaging Het
Mycbp2 A G 14: 103,469,960 (GRCm39) probably null Het
Myh15 A G 16: 48,975,928 (GRCm39) D1332G probably damaging Het
Myh9 G A 15: 77,655,332 (GRCm39) T1208M possibly damaging Het
Ncor2 C T 5: 125,161,996 (GRCm39) R426H unknown Het
Nradd T C 9: 110,450,697 (GRCm39) E160G probably benign Het
Or10u4 G A 10: 129,801,861 (GRCm39) S230L probably damaging Het
Or2a54 T A 6: 43,093,312 (GRCm39) M212K probably benign Het
Otog A T 7: 45,937,063 (GRCm39) T1591S probably damaging Het
Oxsr1 A G 9: 119,076,140 (GRCm39) S389P probably benign Het
Pde3a A G 6: 141,434,732 (GRCm39) probably benign Het
Pi4k2b A T 5: 52,905,773 (GRCm39) I105L probably benign Het
Pilrb1 T C 5: 137,853,153 (GRCm39) R217G possibly damaging Het
Poteg A T 8: 27,946,774 (GRCm39) I159L probably benign Het
Ppargc1a A G 5: 51,705,858 (GRCm39) F75S probably damaging Het
Ptk2b T G 14: 66,409,954 (GRCm39) D466A probably benign Het
Ptpn21 A G 12: 98,655,785 (GRCm39) V394A possibly damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Shisa3 G A 5: 67,768,651 (GRCm39) E184K possibly damaging Het
Slc4a2 A G 5: 24,636,557 (GRCm39) H283R probably damaging Het
Slc9a3 A G 13: 74,311,860 (GRCm39) S603G probably damaging Het
Tas2r124 A G 6: 132,731,858 (GRCm39) I56V possibly damaging Het
Tbcd G T 11: 121,431,762 (GRCm39) C470F probably damaging Het
Thsd1 A G 8: 22,749,333 (GRCm39) R674G probably benign Het
Zbtb11 T A 16: 55,818,372 (GRCm39) C599S probably damaging Het
Zfp541 A G 7: 15,812,252 (GRCm39) R302G possibly damaging Het
Other mutations in Gtpbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01712:Gtpbp6 APN 5 110,252,245 (GRCm39) missense probably benign 0.08
IGL03330:Gtpbp6 APN 5 110,254,929 (GRCm39) missense possibly damaging 0.95
R0457:Gtpbp6 UTSW 5 110,254,608 (GRCm39) missense probably damaging 1.00
R1424:Gtpbp6 UTSW 5 110,252,155 (GRCm39) splice site probably null
R2012:Gtpbp6 UTSW 5 110,252,790 (GRCm39) missense probably damaging 0.98
R4520:Gtpbp6 UTSW 5 110,255,725 (GRCm39) missense probably benign 0.41
R4629:Gtpbp6 UTSW 5 110,254,774 (GRCm39) missense possibly damaging 0.95
R4762:Gtpbp6 UTSW 5 110,252,186 (GRCm39) missense probably damaging 1.00
R4878:Gtpbp6 UTSW 5 110,255,177 (GRCm39) unclassified probably benign
R5050:Gtpbp6 UTSW 5 110,252,567 (GRCm39) unclassified probably benign
R5174:Gtpbp6 UTSW 5 110,255,983 (GRCm39) missense possibly damaging 0.91
R5327:Gtpbp6 UTSW 5 110,254,770 (GRCm39) missense probably damaging 1.00
R5450:Gtpbp6 UTSW 5 110,254,991 (GRCm39) missense probably damaging 0.99
R5685:Gtpbp6 UTSW 5 110,252,805 (GRCm39) missense probably damaging 1.00
R5773:Gtpbp6 UTSW 5 110,254,757 (GRCm39) missense possibly damaging 0.94
R5793:Gtpbp6 UTSW 5 110,255,094 (GRCm39) missense probably benign 0.01
R7205:Gtpbp6 UTSW 5 110,252,478 (GRCm39) missense probably damaging 1.00
R7263:Gtpbp6 UTSW 5 110,251,915 (GRCm39) missense probably benign 0.01
R7623:Gtpbp6 UTSW 5 110,252,950 (GRCm39) missense probably damaging 1.00
R7790:Gtpbp6 UTSW 5 110,252,252 (GRCm39) missense probably damaging 1.00
R8348:Gtpbp6 UTSW 5 110,251,892 (GRCm39) missense possibly damaging 0.92
R8803:Gtpbp6 UTSW 5 110,255,186 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCTCCACGTTCAGGAACAC -3'
(R):5'- GCGGTTTCATCCCAGAGCTAAC -3'

Sequencing Primer
(F):5'- CACGTTCAGGAACACGGACG -3'
(R):5'- GAGCTAACCCTGTCCACCG -3'
Posted On 2014-08-25