Incidental Mutation 'R4387:Gtpbp2'
| ID |
326287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtpbp2
|
| Ensembl Gene |
ENSMUSG00000023952 |
| Gene Name |
GTP binding protein 2 |
| Synonyms |
nmf205 |
| MMRRC Submission |
041681-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R4387 (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 46477284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 383
(D383G)
|
| 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: D383G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000024748
Gene: ENSMUSG00000023952
AA Change: D383G
| 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 |
noncoding transcript
Transcript: ENSMUST00000169778
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172170
AA Change: D383G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000128517
Gene: ENSMUSG00000023952
AA Change: D383G
| 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: ENSMUST00000167404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171901
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167681
|
| 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: 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,464,693 (GRCm39) |
|
probably null |
Het |
| Adprm |
C |
T |
11: 66,929,019 (GRCm39) |
R324K |
probably benign |
Het |
| Brd10 |
A |
G |
19: 29,782,715 (GRCm39) |
|
probably benign |
Het |
| Calcr |
T |
A |
6: 3,707,581 (GRCm39) |
N240Y |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,031,366 (GRCm39) |
V601A |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,540,479 (GRCm39) |
D364G |
probably damaging |
Het |
| Eno4 |
T |
A |
19: 58,941,640 (GRCm39) |
V187D |
probably benign |
Het |
| Fbxl7 |
C |
A |
15: 26,543,345 (GRCm39) |
S434I |
probably damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,439,053 (GRCm39) |
L174Q |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,243,903 (GRCm39) |
R91S |
possibly damaging |
Het |
| Gabrd |
A |
G |
4: 155,473,389 (GRCm39) |
|
probably null |
Het |
| Igf1r |
A |
G |
7: 67,819,757 (GRCm39) |
I356V |
probably benign |
Het |
| Kcnc1 |
C |
A |
7: 46,047,126 (GRCm39) |
R9S |
possibly damaging |
Het |
| Lipi |
T |
A |
16: 75,370,843 (GRCm39) |
I125F |
probably damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,278 (GRCm39) |
E74G |
probably damaging |
Het |
| Mgat4d |
A |
T |
8: 84,098,335 (GRCm39) |
Q366L |
probably damaging |
Het |
| Mrpl1 |
A |
G |
5: 96,386,778 (GRCm39) |
N256D |
possibly damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,000,902 (GRCm39) |
K66E |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,907,219 (GRCm39) |
T740A |
possibly damaging |
Het |
| Or5an1c |
A |
G |
19: 12,218,503 (GRCm39) |
V174A |
probably damaging |
Het |
| Or8k33 |
T |
C |
2: 86,384,298 (GRCm39) |
T57A |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,464 (GRCm39) |
D206V |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,523,001 (GRCm39) |
I36T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,449,785 (GRCm39) |
L914M |
possibly damaging |
Het |
| Ppm1b |
A |
G |
17: 85,322,847 (GRCm39) |
D382G |
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,453,413 (GRCm39) |
Y282C |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,769,570 (GRCm39) |
Y432N |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,596,534 (GRCm39) |
|
probably null |
Het |
| Recql4 |
A |
G |
15: 76,590,158 (GRCm39) |
S659P |
probably benign |
Het |
| Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
| Shoc1 |
A |
T |
4: 59,060,915 (GRCm39) |
C953S |
possibly damaging |
Het |
| Slit3 |
T |
C |
11: 35,574,875 (GRCm39) |
V1063A |
probably benign |
Het |
| Spdye4a |
A |
G |
5: 143,211,378 (GRCm39) |
V62A |
probably benign |
Het |
| Ttc6 |
G |
A |
12: 57,689,836 (GRCm39) |
G509S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,175,628 (GRCm39) |
T1242M |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,284,681 (GRCm39) |
S1155G |
unknown |
Het |
| Zfp551 |
A |
T |
7: 12,152,568 (GRCm39) |
I55N |
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 |
|
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'- ATTGTGGGAGGGAGCTAACC -3'
(R):5'- CTCAGGCTTTGTCAGAACTGGG -3'
Sequencing Primer
(F):5'- CTGGAACTTCGAGACATTAGCTG -3'
(R):5'- TTTGTCAGAACTGGGCCAGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation