Incidental Mutation 'IGL00477:Gtpbp2'
ID |
332181 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gtpbp2
|
Ensembl Gene |
ENSMUSG00000023952 |
Gene Name |
GTP binding protein 2 |
Synonyms |
nmf205 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
IGL00477
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
46471958-46480296 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 46479180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 581
(G581C)
|
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: G581C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024748 Gene: ENSMUSG00000023952 AA Change: G581C
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: G231C
|
SMART Domains |
Protein: ENSMUSP00000131772 Gene: ENSMUSG00000023952 AA Change: G231C
Domain | Start | End | E-Value | Type |
SCOP:d1f60a2
|
69 |
111 |
1e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169918
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169955
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167404
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169778
|
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 |
probably benign
Transcript: ENSMUST00000172170
|
SMART Domains |
Protein: ENSMUSP00000128517 Gene: ENSMUSG00000023952
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411G06Rik |
T |
A |
10: 51,632,867 (GRCm39) |
|
noncoding transcript |
Het |
Bmal2 |
A |
G |
6: 146,728,827 (GRCm39) |
|
probably benign |
Het |
Cntnap5b |
A |
G |
1: 100,141,468 (GRCm39) |
T575A |
probably damaging |
Het |
Dapl1 |
T |
C |
2: 59,324,832 (GRCm39) |
S28P |
probably benign |
Het |
Dnmbp |
T |
A |
19: 43,890,918 (GRCm39) |
E283V |
probably damaging |
Het |
Fastkd3 |
G |
A |
13: 68,732,647 (GRCm39) |
V323I |
possibly damaging |
Het |
Igsf5 |
A |
G |
16: 96,192,220 (GRCm39) |
E173G |
possibly damaging |
Het |
Mat1a |
T |
C |
14: 40,827,651 (GRCm39) |
|
probably benign |
Het |
Mmp1a |
T |
A |
9: 7,476,260 (GRCm39) |
D452E |
probably benign |
Het |
Ncapd2 |
A |
T |
6: 125,150,388 (GRCm39) |
M879K |
probably benign |
Het |
Plce1 |
A |
T |
19: 38,513,576 (GRCm39) |
T292S |
probably benign |
Het |
Qrsl1 |
G |
T |
10: 43,752,488 (GRCm39) |
T445N |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,577,138 (GRCm39) |
|
probably benign |
Het |
Serpina1f |
A |
G |
12: 103,658,128 (GRCm39) |
M259T |
probably benign |
Het |
Tmprss15 |
A |
G |
16: 78,818,301 (GRCm39) |
V543A |
probably damaging |
Het |
Usp34 |
C |
T |
11: 23,418,879 (GRCm39) |
T3009I |
probably damaging |
Het |
Usp7 |
A |
T |
16: 8,515,839 (GRCm39) |
I661N |
probably damaging |
Het |
Virma |
T |
G |
4: 11,519,006 (GRCm39) |
L751R |
probably damaging |
Het |
|
Other mutations in Gtpbp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R9445:Gtpbp2
|
UTSW |
17 |
46,478,757 (GRCm39) |
missense |
probably damaging |
0.99 |
R9715:Gtpbp2
|
UTSW |
17 |
46,478,301 (GRCm39) |
missense |
|
|
|
Posted On |
2015-08-05 |