Incidental Mutation 'IGL02272:Gtpbp2'
ID |
287198 |
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: 0.267)
|
Stock # |
IGL02272
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
46471958-46480296 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46475707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 152
(V152E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128517
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024748]
[ENSMUST00000166563]
[ENSMUST00000172170]
[ENSMUST00000169383]
|
AlphaFold |
Q3UJK4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024748
AA Change: V152E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000024748 Gene: ENSMUSG00000023952 AA Change: V152E
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 |
noncoding transcript
Transcript: ENSMUST00000163941
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164338
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165686
|
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 |
probably benign
Transcript: ENSMUST00000172170
AA Change: V152E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000128517 Gene: ENSMUSG00000023952 AA Change: V152E
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: ENSMUST00000169778
|
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: ENSMUST00000169798
|
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: ENSMUST00000166701
|
SMART Domains |
Protein: ENSMUSP00000131772 Gene: ENSMUSG00000023952
Domain | Start | End | E-Value | Type |
SCOP:d1f60a2
|
69 |
111 |
1e-6 |
SMART |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
T |
A |
17: 57,757,021 (GRCm39) |
C759* |
probably null |
Het |
Adgrg6 |
T |
A |
10: 14,344,573 (GRCm39) |
M127L |
probably damaging |
Het |
Anxa9 |
A |
G |
3: 95,213,205 (GRCm39) |
V47A |
probably benign |
Het |
Arhgef12 |
T |
A |
9: 42,912,748 (GRCm39) |
D483V |
probably damaging |
Het |
Arrdc3 |
C |
A |
13: 81,039,769 (GRCm39) |
|
probably benign |
Het |
Ccdc169 |
A |
G |
3: 55,058,169 (GRCm39) |
E67G |
probably damaging |
Het |
Ccdc191 |
T |
A |
16: 43,780,385 (GRCm39) |
V731D |
possibly damaging |
Het |
Cdh3 |
G |
T |
8: 107,274,468 (GRCm39) |
|
probably null |
Het |
Cntnap1 |
G |
A |
11: 101,069,142 (GRCm39) |
V199M |
probably damaging |
Het |
Cntnap3 |
A |
T |
13: 64,905,225 (GRCm39) |
V852E |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,249,907 (GRCm39) |
S1024T |
probably damaging |
Het |
Cyp3a25 |
T |
C |
5: 145,930,075 (GRCm39) |
|
probably benign |
Het |
Dusp6 |
T |
A |
10: 99,101,881 (GRCm39) |
V289D |
probably damaging |
Het |
Ecpas |
A |
T |
4: 58,811,731 (GRCm39) |
N1439K |
probably benign |
Het |
Epha6 |
C |
T |
16: 59,639,300 (GRCm39) |
R858Q |
probably damaging |
Het |
Flrt2 |
T |
A |
12: 95,746,478 (GRCm39) |
F272Y |
probably damaging |
Het |
Gbf1 |
T |
A |
19: 46,258,242 (GRCm39) |
W846R |
probably damaging |
Het |
Hmces |
A |
G |
6: 87,894,837 (GRCm39) |
|
probably null |
Het |
Hsph1 |
A |
G |
5: 149,540,995 (GRCm39) |
S852P |
probably benign |
Het |
Kat6b |
A |
C |
14: 21,676,846 (GRCm39) |
K394Q |
probably damaging |
Het |
Kdr |
G |
A |
5: 76,122,500 (GRCm39) |
T475I |
probably benign |
Het |
Klhl25 |
A |
G |
7: 75,516,368 (GRCm39) |
T425A |
probably benign |
Het |
Klk1b8 |
T |
A |
7: 43,602,217 (GRCm39) |
C50S |
probably damaging |
Het |
Kri1 |
T |
C |
9: 21,187,464 (GRCm39) |
Y343C |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,355,768 (GRCm39) |
S953P |
probably benign |
Het |
Lpin1 |
A |
G |
12: 16,597,601 (GRCm39) |
V681A |
probably damaging |
Het |
Lpin3 |
A |
G |
2: 160,743,581 (GRCm39) |
T508A |
probably benign |
Het |
Moxd1 |
T |
A |
10: 24,158,598 (GRCm39) |
Y417* |
probably null |
Het |
Mthfd1l |
T |
G |
10: 3,991,812 (GRCm39) |
I588S |
probably damaging |
Het |
Myo5c |
C |
A |
9: 75,173,442 (GRCm39) |
N543K |
possibly damaging |
Het |
Myo9a |
T |
A |
9: 59,791,883 (GRCm39) |
|
probably benign |
Het |
Nme8 |
T |
C |
13: 19,842,996 (GRCm39) |
Y393C |
probably damaging |
Het |
Nr2e1 |
T |
G |
10: 42,443,975 (GRCm39) |
N249T |
probably damaging |
Het |
Pex11g |
A |
G |
8: 3,515,898 (GRCm39) |
V45A |
probably benign |
Het |
Pkhd1 |
C |
A |
1: 20,279,484 (GRCm39) |
G2945W |
probably damaging |
Het |
Plxnd1 |
A |
G |
6: 115,970,589 (GRCm39) |
F393S |
probably damaging |
Het |
Ppp3cc |
A |
G |
14: 70,473,938 (GRCm39) |
V353A |
probably damaging |
Het |
Prss16 |
T |
A |
13: 22,187,205 (GRCm39) |
Q455L |
probably damaging |
Het |
Ptpn6 |
A |
T |
6: 124,698,171 (GRCm39) |
V524E |
probably damaging |
Het |
Rap1gap |
A |
G |
4: 137,443,877 (GRCm39) |
Y163C |
probably damaging |
Het |
Rnf31 |
C |
T |
14: 55,836,239 (GRCm39) |
L598F |
probably damaging |
Het |
Sardh |
T |
G |
2: 27,115,003 (GRCm39) |
D550A |
probably benign |
Het |
Serpinc1 |
T |
G |
1: 160,827,562 (GRCm39) |
I387S |
probably damaging |
Het |
Sh3d19 |
A |
T |
3: 86,028,474 (GRCm39) |
D650V |
probably benign |
Het |
Sipa1l2 |
T |
A |
8: 126,218,750 (GRCm39) |
T196S |
probably damaging |
Het |
Slc25a46 |
T |
C |
18: 31,716,621 (GRCm39) |
T294A |
probably benign |
Het |
Srrm2 |
T |
C |
17: 24,034,756 (GRCm39) |
|
probably benign |
Het |
Steap2 |
T |
A |
5: 5,727,612 (GRCm39) |
N241I |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,573,594 (GRCm39) |
Y206C |
probably damaging |
Het |
Tmem259 |
T |
A |
10: 79,814,297 (GRCm39) |
Q322L |
probably damaging |
Het |
Tnni2 |
C |
A |
7: 141,997,166 (GRCm39) |
Q52K |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,565,372 (GRCm39) |
V28285A |
possibly damaging |
Het |
Uba7 |
T |
A |
9: 107,853,352 (GRCm39) |
S99R |
probably benign |
Het |
Ubxn2b |
A |
T |
4: 6,216,071 (GRCm39) |
K331N |
probably damaging |
Het |
Usp50 |
G |
A |
2: 126,611,864 (GRCm39) |
T232I |
probably damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,604,973 (GRCm39) |
M95I |
probably benign |
Het |
Vmn2r116 |
T |
A |
17: 23,604,978 (GRCm39) |
L97Q |
probably damaging |
Het |
Vmn2r24 |
A |
T |
6: 123,763,843 (GRCm39) |
N240I |
possibly damaging |
Het |
Vmn2r72 |
T |
C |
7: 85,399,901 (GRCm39) |
R383G |
probably benign |
Het |
|
Other mutations in Gtpbp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2015-04-16 |