Incidental Mutation 'R5608:Arfgap2'
| ID |
439372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arfgap2
|
| Ensembl Gene |
ENSMUSG00000027255 |
| Gene Name |
ADP-ribosylation factor GTPase activating protein 2 |
| Synonyms |
Zfp289, 2310032E02Rik |
| MMRRC Submission |
043272-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R5608 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91095319-91107276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 91100547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 298
(R298H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028691]
[ENSMUST00000064652]
[ENSMUST00000080008]
|
| AlphaFold |
Q99K28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028691
AA Change: R298H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255
AA Change: R298H
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
11 |
125 |
1.46e-44 |
SMART |
|
low complexity region
|
227 |
246 |
N/A |
INTRINSIC |
|
coiled coil region
|
254 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
Blast:ArfGap
|
370 |
434 |
6e-32 |
BLAST |
|
low complexity region
|
468 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064652
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080008
AA Change: R284H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255
AA Change: R284H
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
11 |
125 |
1.46e-44 |
SMART |
|
low complexity region
|
213 |
232 |
N/A |
INTRINSIC |
|
coiled coil region
|
240 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
321 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
333 |
376 |
9.77e-5 |
PROSPERO |
|
low complexity region
|
454 |
462 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150753
|
| Meta Mutation Damage Score |
0.1857 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
95% (54/57) |
| MGI Phenotype |
FUNCTION: This gene encodes a zinc-finger-containing GTPase-activating protein for ADP ribosylation factor 1 (ARF1), a small GTPase that plays a role in coatomer-mediated vesicular trafficking. This gene product stimulates the hydrolysis of ARF1-bound GTP, which may lead to dissociation of coatomer from Golgi-derived membranes to allow fusion with target membranes. It may regulate the retrograde transport from the Golgi complex to the endoplasmic reticulum. Expression of this gene has been shown to be controlled by inhibitor of DNA binding 1 (Id1). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene was identified on chromosome 6. [provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
T |
C |
10: 80,178,781 (GRCm39) |
D199G |
probably benign |
Het |
| Adgrl1 |
G |
T |
8: 84,663,886 (GRCm39) |
G1118W |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,303,395 (GRCm39) |
E117G |
probably damaging |
Het |
| Alkbh7 |
A |
T |
17: 57,305,446 (GRCm39) |
I88F |
probably damaging |
Het |
| Ankrd26 |
C |
A |
6: 118,488,583 (GRCm39) |
D1359Y |
probably damaging |
Het |
| Apoo-ps |
T |
C |
13: 107,550,709 (GRCm39) |
|
noncoding transcript |
Het |
| Birc6 |
G |
A |
17: 74,920,539 (GRCm39) |
V2109I |
probably damaging |
Het |
| Blvrb |
C |
T |
7: 27,158,894 (GRCm39) |
P98L |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,563,283 (GRCm39) |
M220I |
possibly damaging |
Het |
| Bpifa1 |
T |
C |
2: 153,989,495 (GRCm39) |
|
probably benign |
Het |
| Capn7 |
A |
G |
14: 31,092,664 (GRCm39) |
Y737C |
probably damaging |
Het |
| Cdh13 |
A |
T |
8: 119,484,213 (GRCm39) |
D158V |
probably benign |
Het |
| Cenpe |
C |
A |
3: 134,940,837 (GRCm39) |
S662* |
probably null |
Het |
| Colec12 |
T |
A |
18: 9,848,267 (GRCm39) |
D148E |
possibly damaging |
Het |
| Dennd5a |
C |
A |
7: 109,518,630 (GRCm39) |
E480* |
probably null |
Het |
| Dpysl4 |
T |
C |
7: 138,678,459 (GRCm39) |
V473A |
probably damaging |
Het |
| Dyrk3 |
T |
C |
1: 131,056,452 (GRCm39) |
S574G |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| H2-Aa |
T |
C |
17: 34,502,816 (GRCm39) |
T117A |
possibly damaging |
Het |
| Helq |
C |
T |
5: 100,938,085 (GRCm39) |
G454S |
probably damaging |
Het |
| Incenp |
CGCTGCTGCTGC |
CGCTGCTGCTGCTGC |
19: 9,871,232 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
TTGTTGTCTTTGTGTT |
TTGTT |
14: 47,971,554 (GRCm39) |
|
probably benign |
Het |
| Lig1 |
C |
A |
7: 13,039,933 (GRCm39) |
T715N |
probably damaging |
Het |
| Lrrc31 |
C |
A |
3: 30,743,994 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
A |
C |
12: 84,834,238 (GRCm39) |
|
probably null |
Het |
| Marcks |
A |
T |
10: 37,012,912 (GRCm39) |
V41E |
probably damaging |
Het |
| Mex3c |
T |
A |
18: 73,723,014 (GRCm39) |
M369K |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,294,329 (GRCm39) |
D1028G |
probably damaging |
Het |
| Nhlrc3 |
C |
T |
3: 53,369,732 (GRCm39) |
|
probably null |
Het |
| Or1n1b |
A |
G |
2: 36,780,527 (GRCm39) |
F111S |
probably damaging |
Het |
| Or52s1b |
T |
C |
7: 102,822,056 (GRCm39) |
T263A |
probably damaging |
Het |
| Or52z12 |
G |
A |
7: 103,233,506 (GRCm39) |
W92* |
probably null |
Het |
| Or8b8 |
G |
A |
9: 37,809,078 (GRCm39) |
C126Y |
probably damaging |
Het |
| Pcdhga6 |
A |
G |
18: 37,840,514 (GRCm39) |
N78S |
possibly damaging |
Het |
| Plag1 |
T |
A |
4: 3,905,463 (GRCm39) |
K76* |
probably null |
Het |
| Ptpn21 |
T |
A |
12: 98,655,036 (GRCm39) |
T644S |
probably benign |
Het |
| Qrfpr |
A |
G |
3: 36,235,114 (GRCm39) |
V292A |
possibly damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,596,309 (GRCm39) |
V617E |
probably damaging |
Het |
| Rnf157 |
A |
T |
11: 116,287,146 (GRCm39) |
|
probably null |
Het |
| Serpina5 |
A |
C |
12: 104,070,003 (GRCm39) |
Y300S |
probably damaging |
Het |
| Slc41a3 |
A |
G |
6: 90,617,889 (GRCm39) |
K279R |
probably benign |
Het |
| Smndc1 |
A |
G |
19: 53,372,084 (GRCm39) |
V110A |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,129 (GRCm39) |
Q1017R |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,995,353 (GRCm39) |
V419A |
probably benign |
Het |
| Uggt2 |
C |
T |
14: 119,326,611 (GRCm39) |
G200D |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,547,581 (GRCm39) |
S1620T |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,741,603 (GRCm39) |
|
probably benign |
Het |
| Zscan22 |
G |
A |
7: 12,640,919 (GRCm39) |
G388S |
probably damaging |
Het |
|
| Other mutations in Arfgap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0097:Arfgap2
|
UTSW |
2 |
91,105,160 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0097:Arfgap2
|
UTSW |
2 |
91,105,160 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0178:Arfgap2
|
UTSW |
2 |
91,097,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0927:Arfgap2
|
UTSW |
2 |
91,104,150 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1491:Arfgap2
|
UTSW |
2 |
91,105,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Arfgap2
|
UTSW |
2 |
91,100,420 (GRCm39) |
splice site |
probably null |
|
|
R2091:Arfgap2
|
UTSW |
2 |
91,100,586 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2199:Arfgap2
|
UTSW |
2 |
91,096,037 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3772:Arfgap2
|
UTSW |
2 |
91,095,711 (GRCm39) |
missense |
probably benign |
|
|
R3922:Arfgap2
|
UTSW |
2 |
91,105,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3926:Arfgap2
|
UTSW |
2 |
91,105,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Arfgap2
|
UTSW |
2 |
91,100,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Arfgap2
|
UTSW |
2 |
91,097,713 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4923:Arfgap2
|
UTSW |
2 |
91,104,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Arfgap2
|
UTSW |
2 |
91,095,982 (GRCm39) |
nonsense |
probably null |
|
|
R5541:Arfgap2
|
UTSW |
2 |
91,106,114 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5626:Arfgap2
|
UTSW |
2 |
91,105,737 (GRCm39) |
nonsense |
probably null |
|
|
R6261:Arfgap2
|
UTSW |
2 |
91,100,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6300:Arfgap2
|
UTSW |
2 |
91,097,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6948:Arfgap2
|
UTSW |
2 |
91,097,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7531:Arfgap2
|
UTSW |
2 |
91,104,089 (GRCm39) |
splice site |
probably null |
|
|
R8058:Arfgap2
|
UTSW |
2 |
91,096,644 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8121:Arfgap2
|
UTSW |
2 |
91,096,028 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8179:Arfgap2
|
UTSW |
2 |
91,105,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8825:Arfgap2
|
UTSW |
2 |
91,103,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Arfgap2
|
UTSW |
2 |
91,103,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Arfgap2
|
UTSW |
2 |
91,105,449 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTACTGAGATTGAGCGGCAG -3'
(R):5'- TAAGCAAGGAACCCTGACTG -3'
Sequencing Primer
(F):5'- CAGGTGGCAGAGAAGCTCC -3'
(R):5'- CAAGGAACCCTGACTGACTGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation