Incidental Mutation 'R4064:Gtpbp2'
| ID | 316034 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Gtpbp2
|
|---|
| Ensembl Gene |
ENSMUSG00000023952 |
|---|
| Gene Name | GTP binding protein 2 |
|---|
| Synonyms | |
|---|
| MMRRC Submission |
041620-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Possibly non essential (E-score: 0.261)
|
|---|
| Stock # | R4064 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 17 |
|---|
| Chromosomal Location | 46161032-46169370 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
G to A
at 46167327 bp
|
|---|
| 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]
[ENSMUST00000169383]
[ENSMUST00000172170]
|
|---|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
57 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166663
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000166701
AA Change: R32H
|
|---|
| SMART Domains |
Protein: ENSMUSP00000131772
Gene: ENSMUSG00000023952
AA Change: R32H
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f60a2
|
69 |
111 |
1e-6 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167404
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167681
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169383
|
|---|
| SMART Domains |
Protein: ENSMUSP00000133050
Gene: ENSMUSG00000023952
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
51 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169778
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169798
|
|---|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000169918
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169955
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171901
|
|---|
| Meta Mutation Damage Score |
0.1751
|
|---|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
G |
19: 43,804,993 |
Y361* |
probably null |
Het |
| Afmid |
A |
G |
11: 117,836,528 |
T293A |
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,515,862 |
|
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,124,226 |
E148K |
probably damaging |
Het |
| Axl |
C |
A |
7: 25,764,020 |
V602L |
probably benign |
Het |
| Cdc5l |
C |
T |
17: 45,410,890 |
A485T |
probably benign |
Het |
| Duoxa2 |
G |
T |
2: 122,300,577 |
S73I |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,312,989 |
I944V |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,605,791 |
E435G |
possibly damaging |
Het |
| Fbxo15 |
C |
T |
18: 84,959,118 |
R52C |
probably damaging |
Het |
| Fosb |
G |
T |
7: 19,305,192 |
C186* |
probably null |
Het |
| Hnrnpll |
T |
C |
17: 80,032,772 |
H526R |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,290,917 |
F683I |
probably damaging |
Het |
| Mrps24 |
G |
A |
11: 5,704,676 |
R93* |
probably null |
Het |
| Nhlh2 |
A |
G |
3: 102,012,736 |
D28G |
probably benign |
Het |
| Olfr1 |
A |
T |
11: 73,395,522 |
S167T |
probably benign |
Het |
| Olfr1141 |
A |
G |
2: 87,753,789 |
F68S |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,790,649 |
D1451E |
probably benign |
Het |
| Otop2 |
G |
A |
11: 115,329,375 |
G347D |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,624,140 |
S977G |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,640,176 |
T98A |
probably damaging |
Het |
| Pus10 |
A |
G |
11: 23,728,983 |
K485R |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,024,394 |
D588G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 33,937,108 |
D723E |
possibly damaging |
Het |
| Rp1 |
A |
T |
1: 4,345,400 |
S1830T |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 37,930,317 |
S551P |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,446,036 |
E127D |
probably benign |
Het |
| Sh3pxd2b |
G |
T |
11: 32,422,263 |
A477S |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,763,187 |
Y568H |
probably benign |
Het |
| Tarsl2 |
G |
A |
7: 65,652,270 |
A181T |
possibly damaging |
Het |
| Tbc1d2b |
T |
A |
9: 90,218,922 |
K672* |
probably null |
Het |
| Tmem59l |
T |
C |
8: 70,485,719 |
T168A |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,962,325 |
|
probably benign |
Het |
| Vmn1r9 |
T |
C |
6: 57,071,321 |
F127S |
probably damaging |
Het |
| Zfp282 |
G |
A |
6: 47,880,094 |
R87H |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 |
V727A |
probably damaging |
Het |
| Zscan22 |
C |
T |
7: 12,907,014 |
T395I |
probably damaging |
Het |
|
|---|
| Other mutations in Gtpbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Gtpbp2
|
APN |
17 |
46168254 |
missense |
probably damaging |
1.00 |
|
IGL01534:Gtpbp2
|
APN |
17 |
46163504 |
missense |
probably damaging |
1.00 |
|
IGL02272:Gtpbp2
|
APN |
17 |
46164781 |
missense |
probably benign |
0.00 |
|
IGL02864:Gtpbp2
|
APN |
17 |
46165594 |
missense |
probably benign |
0.00 |
|
R0894:Gtpbp2
|
UTSW |
17 |
46165969 |
missense |
possibly damaging |
0.85 |
|
R1575:Gtpbp2
|
UTSW |
17 |
46165943 |
missense |
probably damaging |
1.00 |
|
R1632:Gtpbp2
|
UTSW |
17 |
46168592 |
missense |
probably benign |
|
|
R1639:Gtpbp2
|
UTSW |
17 |
46165771 |
splice site |
probably null |
|
|
R1786:Gtpbp2
|
UTSW |
17 |
46161202 |
missense |
probably benign |
0.01 |
|
R2132:Gtpbp2
|
UTSW |
17 |
46161202 |
missense |
probably benign |
0.01 |
|
R2133:Gtpbp2
|
UTSW |
17 |
46161202 |
missense |
probably benign |
0.01 |
|
R2223:Gtpbp2
|
UTSW |
17 |
46167227 |
missense |
probably benign |
|
|
R3742:Gtpbp2
|
UTSW |
17 |
46165882 |
missense |
probably benign |
0.03 |
|
R4060:Gtpbp2
|
UTSW |
17 |
46167327 |
missense |
probably damaging |
1.00 |
|
R4061:Gtpbp2
|
UTSW |
17 |
46167327 |
missense |
probably damaging |
1.00 |
|
R4387:Gtpbp2
|
UTSW |
17 |
46166358 |
missense |
probably benign |
0.03 |
|
R4469:Gtpbp2
|
UTSW |
17 |
46161313 |
missense |
probably damaging |
0.99 |
|
R4583:Gtpbp2
|
UTSW |
17 |
46161145 |
missense |
probably damaging |
0.99 |
|
R4664:Gtpbp2
|
UTSW |
17 |
46161154 |
missense |
probably benign |
0.33 |
|
R4724:Gtpbp2
|
UTSW |
17 |
46167221 |
critical splice acceptor site |
probably null |
|
|
R5338:Gtpbp2
|
UTSW |
17 |
46167834 |
missense |
probably damaging |
1.00 |
|
R5368:Gtpbp2
|
UTSW |
17 |
46166304 |
splice site |
probably benign |
|
|
R5832:Gtpbp2
|
UTSW |
17 |
46167862 |
missense |
probably damaging |
0.98 |
|
R6490:Gtpbp2
|
UTSW |
17 |
46168221 |
missense |
probably benign |
0.01 |
|
R6526:Gtpbp2
|
UTSW |
17 |
46164111 |
splice site |
probably null |
|
|
R6723:Gtpbp2
|
UTSW |
17 |
46168276 |
missense |
probably benign |
0.05 |
|
R6860:Gtpbp2
|
UTSW |
17 |
46167988 |
intron |
probably benign |
|
|
R7336:Gtpbp2
|
UTSW |
17 |
46161313 |
missense |
probably damaging |
0.99 |
|
R7662:Gtpbp2
|
UTSW |
17 |
46166435 |
missense |
probably benign |
0.00 |
|
R7710:Gtpbp2
|
UTSW |
17 |
46167787 |
missense |
possibly damaging |
0.92 |
|
R8021:Gtpbp2
|
UTSW |
17 |
46164269 |
missense |
possibly damaging |
0.91 |
|
R8334:Gtpbp2
|
UTSW |
17 |
46166442 |
missense |
possibly damaging |
0.89 |
|
|---|
| 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 |
|---|
