Incidental Mutation 'R1632:Gtpbp2'
| ID |
172882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp2
|
| Ensembl Gene |
ENSMUSG00000023952 |
| Gene Name |
GTP binding protein 2 |
| Synonyms |
nmf205 |
| MMRRC Submission |
039669-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R1632 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
46471958-46480296 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46479518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 590
(R590G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024748]
[ENSMUST00000024749]
[ENSMUST00000166563]
[ENSMUST00000172170]
[ENSMUST00000169383]
|
| AlphaFold |
Q3UJK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024748
|
| SMART Domains |
Protein: ENSMUSP00000024748
Gene: ENSMUSG00000023952
| 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 |
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: ENSMUST00000166701
|
| SMART Domains |
Protein: ENSMUSP00000131772
Gene: ENSMUSG00000023952
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f60a2
|
69 |
111 |
1e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172170
AA Change: R590G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128517
Gene: ENSMUSG00000023952
AA Change: R590G
| 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: ENSMUST00000169955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169778
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Arhgap28 |
A |
T |
17: 68,156,069 (GRCm39) |
Y696N |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,824,169 (GRCm39) |
T537A |
probably benign |
Het |
| Capn15 |
A |
T |
17: 26,179,639 (GRCm39) |
F841Y |
probably damaging |
Het |
| Card10 |
G |
A |
15: 78,675,420 (GRCm39) |
R396* |
probably null |
Het |
| Chd9 |
A |
T |
8: 91,683,335 (GRCm39) |
K592* |
probably null |
Het |
| Cyp2j8 |
T |
A |
4: 96,335,561 (GRCm39) |
H411L |
probably benign |
Het |
| Dhcr24 |
G |
T |
4: 106,443,148 (GRCm39) |
M394I |
probably benign |
Het |
| Dhrs3 |
T |
C |
4: 144,620,116 (GRCm39) |
V11A |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,164,123 (GRCm39) |
I134N |
probably damaging |
Het |
| Enpp4 |
G |
T |
17: 44,410,544 (GRCm39) |
S344Y |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,031,687 (GRCm39) |
S14P |
probably benign |
Het |
| Fancm |
T |
G |
12: 65,177,105 (GRCm39) |
I1983S |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,992,032 (GRCm39) |
T555A |
unknown |
Het |
| Gemin4 |
A |
T |
11: 76,101,815 (GRCm39) |
M982K |
probably benign |
Het |
| H2-M3 |
G |
A |
17: 37,582,054 (GRCm39) |
R170H |
probably benign |
Het |
| Hoxa13 |
G |
T |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
| Hspb3 |
A |
G |
13: 113,799,589 (GRCm39) |
V147A |
probably benign |
Het |
| Il6st |
G |
T |
13: 112,640,866 (GRCm39) |
D820Y |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,129,832 (GRCm39) |
V448A |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,283,387 (GRCm39) |
D991G |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,193,507 (GRCm39) |
D140G |
possibly damaging |
Het |
| Limk2 |
A |
G |
11: 3,296,250 (GRCm39) |
L399P |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,506,794 (GRCm39) |
|
probably null |
Het |
| Map2 |
C |
T |
1: 66,454,245 (GRCm39) |
T1045M |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,874,821 (GRCm39) |
I321V |
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,484,413 (GRCm39) |
H328L |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,462,445 (GRCm39) |
S383G |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,116,459 (GRCm39) |
M735T |
possibly damaging |
Het |
| Nostrin |
A |
G |
2: 69,006,078 (GRCm39) |
K254R |
probably benign |
Het |
| Nphp1 |
G |
T |
2: 127,612,312 (GRCm39) |
P212T |
probably benign |
Het |
| Or5ak20 |
A |
T |
2: 85,183,586 (GRCm39) |
M228K |
possibly damaging |
Het |
| Pals1 |
T |
A |
12: 78,843,812 (GRCm39) |
Y5* |
probably null |
Het |
| Pclo |
A |
C |
5: 14,730,017 (GRCm39) |
|
probably benign |
Het |
| Phf19 |
G |
A |
2: 34,801,631 (GRCm39) |
R60W |
probably damaging |
Het |
| Pou2af2 |
T |
C |
9: 51,201,702 (GRCm39) |
D118G |
probably damaging |
Het |
| Psg18 |
G |
A |
7: 18,084,824 (GRCm39) |
P91S |
probably benign |
Het |
| Rttn |
C |
T |
18: 89,027,460 (GRCm39) |
T525I |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,793,686 (GRCm39) |
M1268V |
probably benign |
Het |
| Slc25a2 |
T |
C |
18: 37,770,740 (GRCm39) |
E263G |
possibly damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,455,810 (GRCm39) |
A155V |
possibly damaging |
Het |
| Slc6a19 |
A |
T |
13: 73,838,027 (GRCm39) |
|
probably null |
Het |
| Socs4 |
A |
G |
14: 47,527,034 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,260 (GRCm39) |
I267T |
probably benign |
Het |
| Tpte |
G |
A |
8: 22,839,363 (GRCm39) |
C470Y |
probably damaging |
Het |
| Usp17la |
A |
T |
7: 104,510,118 (GRCm39) |
H241L |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,000 (GRCm39) |
I140F |
probably benign |
Het |
| Zfp329 |
T |
C |
7: 12,544,876 (GRCm39) |
D216G |
possibly 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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGTACAAGCCATCACAGCAGGAG -3'
(R):5'- TCAACCCAGGATAGGAGCACAGTC -3'
Sequencing Primer
(F):5'- ATGGGCTTCTGAGTCATCCAAAC -3'
(R):5'- AGCACAGTCTGTCATGGTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation