Incidental Mutation 'R5832:Gtpbp2'
| ID |
449385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp2
|
| Ensembl Gene |
ENSMUSG00000023952 |
| Gene Name |
GTP binding protein 2 |
| Synonyms |
nmf205 |
| MMRRC Submission |
044054-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R5832 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
46471958-46480296 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46478788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 535
(T535I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024748]
[ENSMUST00000024749]
[ENSMUST00000166563]
[ENSMUST00000172170]
[ENSMUST00000169383]
|
| AlphaFold |
Q3UJK4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024748
AA Change: T535I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000024748
Gene: ENSMUSG00000023952
AA Change: T535I
| 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 |
noncoding transcript
Transcript: ENSMUST00000167681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169798
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172170
AA Change: T535I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128517
Gene: ENSMUSG00000023952
AA Change: T535I
| 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 |
unknown
Transcript: ENSMUST00000166701
AA Change: T100I
|
| SMART Domains |
Protein: ENSMUSP00000131772
Gene: ENSMUSG00000023952
AA Change: T100I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f60a2
|
69 |
111 |
1e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169955
|
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,251,421 (GRCm39) |
S6232F |
possibly damaging |
Het |
| Alox12 |
T |
C |
11: 70,144,106 (GRCm39) |
E129G |
probably damaging |
Het |
| Anxa13 |
C |
A |
15: 58,205,389 (GRCm39) |
|
noncoding transcript |
Het |
| Arfgef3 |
C |
T |
10: 18,506,168 (GRCm39) |
G878D |
probably damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,386,634 (GRCm39) |
D331G |
probably damaging |
Het |
| Crisp1 |
A |
G |
17: 40,612,208 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,842,447 (GRCm39) |
N217S |
probably benign |
Het |
| Fat1 |
A |
T |
8: 45,470,460 (GRCm39) |
Y1463F |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,223,752 (GRCm39) |
W1033R |
probably damaging |
Het |
| Galr2 |
T |
A |
11: 116,172,457 (GRCm39) |
L49Q |
probably damaging |
Het |
| Gstm5 |
T |
C |
3: 107,804,853 (GRCm39) |
V115A |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,128,144 (GRCm39) |
E326G |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,902,533 (GRCm39) |
V388A |
probably damaging |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Kitl |
C |
A |
10: 99,915,882 (GRCm39) |
P137H |
probably damaging |
Het |
| Lamp3 |
A |
T |
16: 19,520,070 (GRCm39) |
Y38N |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,121,649 (GRCm39) |
N5I |
probably damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,350 (GRCm39) |
C191S |
probably benign |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,949,520 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
T |
7: 49,197,817 (GRCm39) |
|
probably null |
Het |
| Patz1 |
C |
T |
11: 3,256,277 (GRCm39) |
P521L |
probably benign |
Het |
| Pramel14 |
A |
G |
4: 143,718,532 (GRCm39) |
S304P |
probably damaging |
Het |
| Prkcd |
T |
C |
14: 30,327,778 (GRCm39) |
T103A |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,419,859 (GRCm39) |
|
probably null |
Het |
| Rcbtb2 |
C |
A |
14: 73,404,262 (GRCm39) |
Q85K |
possibly damaging |
Het |
| Rdh16f1 |
T |
A |
10: 127,624,618 (GRCm39) |
V152E |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,498 (GRCm39) |
I470V |
probably benign |
Het |
| Sarnp |
T |
C |
10: 128,684,181 (GRCm39) |
|
probably null |
Het |
| Slc39a6 |
C |
A |
18: 24,734,669 (GRCm39) |
V7L |
possibly damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,765,270 (GRCm39) |
I324T |
probably benign |
Het |
| Spata31d1a |
A |
T |
13: 59,849,380 (GRCm39) |
V916E |
probably damaging |
Het |
| Srgap1 |
T |
G |
10: 121,676,819 (GRCm39) |
T392P |
probably damaging |
Het |
| Tbc1d20 |
A |
T |
2: 152,153,282 (GRCm39) |
M271L |
possibly damaging |
Het |
| Tbc1d22b |
T |
C |
17: 29,789,621 (GRCm39) |
I161T |
possibly damaging |
Het |
| Tcof1 |
G |
T |
18: 60,952,611 (GRCm39) |
N918K |
unknown |
Het |
| Tnr |
A |
G |
1: 159,713,692 (GRCm39) |
T707A |
probably benign |
Het |
| Trim66 |
A |
G |
7: 109,054,409 (GRCm39) |
F1267S |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,764,183 (GRCm39) |
H263R |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,725,965 (GRCm39) |
V187D |
possibly damaging |
Het |
| Ube2f |
T |
G |
1: 91,213,046 (GRCm39) |
V176G |
possibly damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,761,318 (GRCm39) |
A680T |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,460,670 (GRCm39) |
C665* |
probably null |
Het |
| Zfp954 |
A |
G |
7: 7,118,389 (GRCm39) |
V385A |
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 |
|
|
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'- GCCCTTTGTGAACCTTGAACTG -3'
(R):5'- ATCATTCTCTGCCAGCCTGG -3'
Sequencing Primer
(F):5'- GAACTGTTCCTTCCCAGGG -3'
(R):5'- TGGACTCCACCTGTGAGG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation