Incidental Mutation 'R6723:Gtpbp2'
ID |
529724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtpbp2
|
Ensembl Gene |
ENSMUSG00000023952 |
Gene Name |
GTP binding protein 2 |
Synonyms |
nmf205 |
MMRRC Submission |
044841-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.267)
|
Stock # |
R6723 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
46471958-46480296 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46479202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 588
(V588A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024748
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024748]
[ENSMUST00000024749]
[ENSMUST00000166563]
[ENSMUST00000172170]
[ENSMUST00000169383]
|
AlphaFold |
Q3UJK4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024748
AA Change: V588A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000024748 Gene: ENSMUSG00000023952 AA Change: V588A
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: V238A
|
SMART Domains |
Protein: ENSMUSP00000131772 Gene: ENSMUSG00000023952 AA Change: V238A
Domain | Start | End | E-Value | Type |
SCOP:d1f60a2
|
69 |
111 |
1e-6 |
SMART |
|
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 |
|
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: ENSMUST00000169918
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167681
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167404
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169778
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171901
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169955
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak2 |
A |
G |
12: 112,745,228 (GRCm39) |
S740P |
probably damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Bcl11a |
C |
A |
11: 24,113,646 (GRCm39) |
P330T |
probably damaging |
Het |
Cyp2d12 |
A |
T |
15: 82,441,085 (GRCm39) |
I124F |
probably benign |
Het |
Dhdds |
T |
C |
4: 133,721,576 (GRCm39) |
T74A |
probably damaging |
Het |
Dio3 |
G |
A |
12: 110,245,991 (GRCm39) |
C109Y |
possibly damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dock7 |
A |
G |
4: 98,892,153 (GRCm39) |
V811A |
possibly damaging |
Het |
Efcab3 |
A |
T |
11: 105,007,906 (GRCm39) |
T329S |
possibly damaging |
Het |
Esp1 |
A |
T |
17: 41,039,747 (GRCm39) |
I11L |
probably benign |
Het |
Fam13b |
A |
T |
18: 34,631,079 (GRCm39) |
H33Q |
possibly damaging |
Het |
Fam13c |
G |
A |
10: 70,390,355 (GRCm39) |
D539N |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 91,965,011 (GRCm39) |
T257A |
probably benign |
Het |
Gm5134 |
A |
G |
10: 75,844,453 (GRCm39) |
D603G |
probably benign |
Het |
Ift140 |
A |
G |
17: 25,252,090 (GRCm39) |
I312M |
probably benign |
Het |
Inpp5j |
T |
C |
11: 3,450,640 (GRCm39) |
N571S |
probably damaging |
Het |
Iqgap1 |
T |
G |
7: 80,373,570 (GRCm39) |
D1473A |
probably benign |
Het |
Ivl |
T |
G |
3: 92,478,694 (GRCm39) |
K457T |
unknown |
Het |
Kdm3b |
T |
C |
18: 34,926,058 (GRCm39) |
I66T |
probably damaging |
Het |
Kif21a |
A |
T |
15: 90,824,649 (GRCm39) |
M1430K |
probably damaging |
Het |
Klhl25 |
T |
A |
7: 75,515,739 (GRCm39) |
L215Q |
possibly damaging |
Het |
Lim2 |
T |
A |
7: 43,085,099 (GRCm39) |
M163K |
probably benign |
Het |
Lrig1 |
T |
C |
6: 94,603,386 (GRCm39) |
D254G |
probably damaging |
Het |
Mff |
A |
G |
1: 82,729,387 (GRCm39) |
I122V |
possibly damaging |
Het |
Mrpl15 |
A |
C |
1: 4,852,789 (GRCm39) |
|
probably null |
Het |
Mylk |
A |
G |
16: 34,750,258 (GRCm39) |
Y1199C |
possibly damaging |
Het |
Nlrp3 |
G |
A |
11: 59,456,018 (GRCm39) |
C938Y |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,368,118 (GRCm39) |
N623D |
probably damaging |
Het |
Obscn |
T |
G |
11: 58,945,824 (GRCm39) |
E4129A |
probably damaging |
Het |
Or10a49 |
A |
T |
7: 108,467,795 (GRCm39) |
C189S |
probably damaging |
Het |
Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
Or4d11 |
A |
G |
19: 12,013,639 (GRCm39) |
S156P |
probably damaging |
Het |
Or5k1 |
T |
C |
16: 58,617,795 (GRCm39) |
K138R |
probably benign |
Het |
Or6c65 |
A |
T |
10: 129,604,284 (GRCm39) |
L306F |
probably benign |
Het |
Parm1 |
C |
T |
5: 91,770,856 (GRCm39) |
P291S |
probably damaging |
Het |
Pcsk1 |
T |
A |
13: 75,241,188 (GRCm39) |
|
probably null |
Het |
Pgap6 |
C |
A |
17: 26,339,610 (GRCm39) |
T616N |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Piezo1 |
T |
G |
8: 123,234,366 (GRCm39) |
Q93H |
probably benign |
Het |
Pkd2l2 |
A |
T |
18: 34,571,210 (GRCm39) |
Y575F |
probably damaging |
Het |
Plekhn1 |
A |
C |
4: 156,309,026 (GRCm39) |
F258C |
probably damaging |
Het |
Pole |
C |
T |
5: 110,471,482 (GRCm39) |
H1409Y |
probably benign |
Het |
Rae1 |
T |
C |
2: 172,854,041 (GRCm39) |
I273T |
probably damaging |
Het |
Rag1 |
A |
G |
2: 101,473,990 (GRCm39) |
V384A |
probably damaging |
Het |
Rnaseh1 |
T |
C |
12: 28,699,761 (GRCm39) |
L25P |
probably damaging |
Het |
Serpinb12 |
A |
G |
1: 106,876,888 (GRCm39) |
H68R |
probably benign |
Het |
Sh3tc2 |
A |
T |
18: 62,111,025 (GRCm39) |
I294F |
probably damaging |
Het |
Sirpb1b |
A |
C |
3: 15,613,858 (GRCm39) |
L75V |
possibly damaging |
Het |
Slc12a6 |
A |
T |
2: 112,168,287 (GRCm39) |
T277S |
probably damaging |
Het |
Slc7a12 |
A |
T |
3: 14,564,257 (GRCm39) |
E43D |
probably benign |
Het |
Spata31d1c |
T |
A |
13: 65,183,758 (GRCm39) |
D433E |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,125,657 (GRCm39) |
Y2451C |
possibly damaging |
Het |
Tbl2 |
A |
T |
5: 135,188,130 (GRCm39) |
Y308F |
probably damaging |
Het |
Tfec |
T |
C |
6: 16,835,301 (GRCm39) |
Y159C |
probably damaging |
Het |
Top1mt |
G |
T |
15: 75,539,282 (GRCm39) |
T371K |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,928,403 (GRCm39) |
V541A |
probably benign |
Het |
Ttc16 |
T |
C |
2: 32,658,049 (GRCm39) |
Y456C |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,600,441 (GRCm39) |
R17204* |
probably null |
Het |
Ugt1a6b |
T |
C |
1: 88,035,439 (GRCm39) |
V259A |
probably benign |
Het |
Unc5a |
T |
C |
13: 55,143,702 (GRCm39) |
W129R |
probably benign |
Het |
Vmn1r63 |
T |
A |
7: 5,805,948 (GRCm39) |
H228L |
probably damaging |
Het |
Whamm |
G |
T |
7: 81,245,868 (GRCm39) |
V775F |
probably damaging |
Het |
Zfc3h1 |
T |
A |
10: 115,256,638 (GRCm39) |
I1536N |
probably benign |
Het |
Zfp1 |
T |
C |
8: 112,396,971 (GRCm39) |
S317P |
probably damaging |
Het |
Zfp58 |
T |
C |
13: 67,642,192 (GRCm39) |
T52A |
probably damaging |
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 |
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 |
|
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'- AGTCCCTGGTCACATAACGG -3'
(R):5'- TTGACACCTCTCCAAGAACG -3'
Sequencing Primer
(F):5'- AAAGGCTCCTTCCTGTGGG -3'
(R):5'- TCTCCAAGAACGTGGCAGG -3'
|
Posted On |
2018-08-01 |