Incidental Mutation 'R0130:Arfgef2'
| ID |
50100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arfgef2
|
| Ensembl Gene |
ENSMUSG00000074582 |
| Gene Name |
ADP ribosylation factor guanine nucleotide exchange factor 2 |
| Synonyms |
BIG2, E230011G24Rik |
| MMRRC Submission |
038415-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.381)
|
| Stock # |
R0130 (G1)
|
| Quality Score |
168 |
|
Status
|
Validated
(trace)
|
| Chromosome |
2 |
| Chromosomal Location |
166647508-166739972 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 166677639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 88
(I88S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099078]
[ENSMUST00000144847]
|
| AlphaFold |
A2A5R2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099078
AA Change: I177S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096677
Gene: ENSMUSG00000074582
AA Change: I177S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DCB
|
7 |
200 |
1.6e-40 |
PFAM |
|
Pfam:Sec7_N
|
377 |
536 |
3.7e-53 |
PFAM |
|
Blast:Sec7
|
549 |
598 |
8e-18 |
BLAST |
|
low complexity region
|
621 |
633 |
N/A |
INTRINSIC |
|
Sec7
|
647 |
834 |
1.55e-97 |
SMART |
|
Blast:Sec7
|
853 |
888 |
2e-11 |
BLAST |
|
Blast:Sec7
|
902 |
941 |
4e-15 |
BLAST |
|
low complexity region
|
1044 |
1055 |
N/A |
INTRINSIC |
|
Pfam:DUF1981
|
1174 |
1257 |
6e-38 |
PFAM |
|
low complexity region
|
1719 |
1729 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144847
AA Change: I88S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8303 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.7%
- 10x: 93.4%
- 20x: 80.2%
|
| Validation Efficiency |
99% (84/85) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit exencephaly, midline gut closure defects, periventricular and subependymal heterotopia, and impaired neuronal migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
T |
17: 84,994,094 (GRCm39) |
Y37F |
probably damaging |
Het |
| Ablim2 |
G |
A |
5: 35,966,520 (GRCm39) |
|
probably benign |
Het |
| Anxa9 |
A |
G |
3: 95,209,733 (GRCm39) |
S129P |
probably benign |
Het |
| Apol7c |
A |
G |
15: 77,410,562 (GRCm39) |
I128T |
possibly damaging |
Het |
| Arfip2 |
A |
G |
7: 105,288,205 (GRCm39) |
|
probably benign |
Het |
| Atp5mf |
A |
T |
5: 145,124,992 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,518,188 (GRCm39) |
E205K |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,715 (GRCm39) |
|
probably null |
Het |
| Cd22 |
A |
G |
7: 30,569,389 (GRCm39) |
Y402H |
possibly damaging |
Het |
| Cd248 |
A |
G |
19: 5,119,990 (GRCm39) |
T613A |
probably benign |
Het |
| Cdcp2 |
C |
T |
4: 106,963,904 (GRCm39) |
|
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,194,405 (GRCm39) |
D120E |
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,250,656 (GRCm39) |
H691L |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cped1 |
T |
A |
6: 22,121,038 (GRCm39) |
Y373N |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,539 (GRCm39) |
V328D |
probably damaging |
Het |
| Ctnnd2 |
A |
T |
15: 30,922,059 (GRCm39) |
E895V |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,126,706 (GRCm39) |
|
probably benign |
Het |
| Dcdc2a |
A |
T |
13: 25,371,655 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,585,108 (GRCm39) |
T837K |
probably benign |
Het |
| Eif2ak3 |
C |
A |
6: 70,858,716 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
A |
C |
1: 119,477,632 (GRCm39) |
V705G |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,142,944 (GRCm39) |
M4302L |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,901,951 (GRCm38) |
V938A |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,608,903 (GRCm39) |
Y928H |
probably damaging |
Het |
| Fyn |
C |
T |
10: 39,387,978 (GRCm39) |
T78M |
probably benign |
Het |
| Gdap2 |
A |
G |
3: 100,109,311 (GRCm39) |
T443A |
probably damaging |
Het |
| Gde1 |
A |
T |
7: 118,294,283 (GRCm39) |
F63L |
probably benign |
Het |
| Gjc3 |
A |
G |
5: 137,956,202 (GRCm39) |
S28P |
probably benign |
Het |
| Gm10250 |
G |
A |
15: 5,150,473 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
| Klhl23 |
T |
C |
2: 69,664,310 (GRCm39) |
V553A |
probably damaging |
Het |
| Lman2l |
G |
T |
1: 36,463,945 (GRCm39) |
S171* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,401,520 (GRCm39) |
D378G |
probably damaging |
Het |
| Map3k11 |
T |
C |
19: 5,740,843 (GRCm39) |
L190P |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,298,188 (GRCm39) |
Q2282L |
probably damaging |
Het |
| Mthfd2 |
T |
A |
6: 83,285,990 (GRCm39) |
I272F |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,352,750 (GRCm39) |
D358V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,395,737 (GRCm39) |
|
probably benign |
Het |
| Nebl |
T |
A |
2: 17,397,834 (GRCm39) |
Q487H |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,325,417 (GRCm39) |
N14Y |
possibly damaging |
Het |
| Or14a258 |
T |
C |
7: 86,035,514 (GRCm39) |
Y118C |
probably damaging |
Het |
| Or1j11 |
T |
A |
2: 36,312,299 (GRCm39) |
D296E |
probably benign |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,305 (GRCm39) |
S191C |
probably damaging |
Het |
| Or8k40 |
T |
C |
2: 86,584,231 (GRCm39) |
M284V |
probably benign |
Het |
| Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
| Paxip1 |
C |
T |
5: 27,949,183 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,729,811 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
T |
G |
11: 70,445,174 (GRCm39) |
N591K |
probably benign |
Het |
| Plekha7 |
A |
G |
7: 115,769,939 (GRCm39) |
M276T |
probably damaging |
Het |
| Prss39 |
T |
A |
1: 34,541,281 (GRCm39) |
|
probably benign |
Het |
| Prtg |
A |
G |
9: 72,716,998 (GRCm39) |
Y113C |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,099,749 (GRCm39) |
I88N |
probably damaging |
Het |
| Rbfox2 |
A |
G |
15: 76,976,057 (GRCm39) |
|
probably benign |
Het |
| Samd5 |
A |
G |
10: 9,550,683 (GRCm39) |
W9R |
probably damaging |
Het |
| Sec14l1 |
A |
T |
11: 117,047,233 (GRCm39) |
K637I |
possibly damaging |
Het |
| Sh2b1 |
A |
T |
7: 126,070,620 (GRCm39) |
D360E |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,036 (GRCm39) |
N628S |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,784,057 (GRCm39) |
I104F |
probably damaging |
Het |
| Smcp |
T |
A |
3: 92,491,827 (GRCm39) |
T7S |
unknown |
Het |
| Sp4 |
A |
G |
12: 118,264,551 (GRCm39) |
|
probably benign |
Het |
| Tectb |
G |
T |
19: 55,170,393 (GRCm39) |
K81N |
probably damaging |
Het |
| Thbs4 |
G |
T |
13: 92,890,918 (GRCm39) |
H850N |
probably benign |
Het |
| Tiam1 |
T |
C |
16: 89,694,642 (GRCm39) |
M272V |
probably benign |
Het |
| Trav13-3 |
T |
A |
14: 53,967,233 (GRCm39) |
|
noncoding transcript |
Het |
| Ubap2l |
A |
T |
3: 89,928,680 (GRCm39) |
S478T |
possibly damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,255,054 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Arfgef2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Arfgef2
|
APN |
2 |
166,727,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01323:Arfgef2
|
APN |
2 |
166,713,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01415:Arfgef2
|
APN |
2 |
166,709,275 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01638:Arfgef2
|
APN |
2 |
166,715,865 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02618:Arfgef2
|
APN |
2 |
166,695,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02899:Arfgef2
|
APN |
2 |
166,710,971 (GRCm39) |
splice site |
probably benign |
|
|
IGL03012:Arfgef2
|
APN |
2 |
166,710,808 (GRCm39) |
splice site |
probably benign |
|
|
IGL03063:Arfgef2
|
APN |
2 |
166,701,702 (GRCm39) |
splice site |
probably benign |
|
|
migrainous
|
UTSW |
2 |
166,676,383 (GRCm39) |
frame shift |
probably null |
|
|
Scotomata
|
UTSW |
2 |
166,693,199 (GRCm39) |
critical splice donor site |
probably null |
|
|
shimmering
|
UTSW |
2 |
166,668,848 (GRCm39) |
missense |
probably benign |
|
|
R0102:Arfgef2
|
UTSW |
2 |
166,687,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0102:Arfgef2
|
UTSW |
2 |
166,687,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0116:Arfgef2
|
UTSW |
2 |
166,715,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Arfgef2
|
UTSW |
2 |
166,677,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Arfgef2
|
UTSW |
2 |
166,709,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Arfgef2
|
UTSW |
2 |
166,702,320 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0945:Arfgef2
|
UTSW |
2 |
166,668,889 (GRCm39) |
unclassified |
probably benign |
|
|
R1226:Arfgef2
|
UTSW |
2 |
166,669,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1252:Arfgef2
|
UTSW |
2 |
166,701,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Arfgef2
|
UTSW |
2 |
166,706,632 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1696:Arfgef2
|
UTSW |
2 |
166,703,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Arfgef2
|
UTSW |
2 |
166,708,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Arfgef2
|
UTSW |
2 |
166,705,523 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1936:Arfgef2
|
UTSW |
2 |
166,705,523 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1939:Arfgef2
|
UTSW |
2 |
166,715,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Arfgef2
|
UTSW |
2 |
166,707,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2279:Arfgef2
|
UTSW |
2 |
166,707,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2349:Arfgef2
|
UTSW |
2 |
166,693,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2359:Arfgef2
|
UTSW |
2 |
166,702,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2414:Arfgef2
|
UTSW |
2 |
166,687,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2519:Arfgef2
|
UTSW |
2 |
166,723,164 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2938:Arfgef2
|
UTSW |
2 |
166,736,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3696:Arfgef2
|
UTSW |
2 |
166,695,220 (GRCm39) |
nonsense |
probably null |
|
|
R4022:Arfgef2
|
UTSW |
2 |
166,715,865 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4227:Arfgef2
|
UTSW |
2 |
166,709,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4293:Arfgef2
|
UTSW |
2 |
166,732,211 (GRCm39) |
missense |
probably benign |
|
|
R4455:Arfgef2
|
UTSW |
2 |
166,736,635 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4499:Arfgef2
|
UTSW |
2 |
166,727,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4570:Arfgef2
|
UTSW |
2 |
166,698,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4888:Arfgef2
|
UTSW |
2 |
166,677,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4893:Arfgef2
|
UTSW |
2 |
166,708,876 (GRCm39) |
missense |
probably benign |
|
|
R5032:Arfgef2
|
UTSW |
2 |
166,720,464 (GRCm39) |
missense |
probably benign |
|
|
R5191:Arfgef2
|
UTSW |
2 |
166,718,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5200:Arfgef2
|
UTSW |
2 |
166,702,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5318:Arfgef2
|
UTSW |
2 |
166,715,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5378:Arfgef2
|
UTSW |
2 |
166,715,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5537:Arfgef2
|
UTSW |
2 |
166,698,513 (GRCm39) |
splice site |
probably null |
|
|
R5866:Arfgef2
|
UTSW |
2 |
166,678,177 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5878:Arfgef2
|
UTSW |
2 |
166,712,137 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5972:Arfgef2
|
UTSW |
2 |
166,733,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Arfgef2
|
UTSW |
2 |
166,713,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6293:Arfgef2
|
UTSW |
2 |
166,715,508 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6323:Arfgef2
|
UTSW |
2 |
166,676,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6338:Arfgef2
|
UTSW |
2 |
166,687,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6538:Arfgef2
|
UTSW |
2 |
166,735,541 (GRCm39) |
splice site |
probably null |
|
|
R6726:Arfgef2
|
UTSW |
2 |
166,735,540 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7047:Arfgef2
|
UTSW |
2 |
166,693,865 (GRCm39) |
splice site |
probably null |
|
|
R7086:Arfgef2
|
UTSW |
2 |
166,718,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Arfgef2
|
UTSW |
2 |
166,715,528 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7155:Arfgef2
|
UTSW |
2 |
166,707,733 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7159:Arfgef2
|
UTSW |
2 |
166,668,848 (GRCm39) |
missense |
probably benign |
|
|
R7482:Arfgef2
|
UTSW |
2 |
166,693,199 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7598:Arfgef2
|
UTSW |
2 |
166,698,444 (GRCm39) |
missense |
probably benign |
|
|
R7869:Arfgef2
|
UTSW |
2 |
166,715,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8003:Arfgef2
|
UTSW |
2 |
166,695,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8092:Arfgef2
|
UTSW |
2 |
166,701,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8093:Arfgef2
|
UTSW |
2 |
166,736,577 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8110:Arfgef2
|
UTSW |
2 |
166,720,464 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8130:Arfgef2
|
UTSW |
2 |
166,678,170 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8153:Arfgef2
|
UTSW |
2 |
166,676,383 (GRCm39) |
frame shift |
probably null |
|
|
R8156:Arfgef2
|
UTSW |
2 |
166,676,383 (GRCm39) |
frame shift |
probably null |
|
|
R8411:Arfgef2
|
UTSW |
2 |
166,715,903 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8418:Arfgef2
|
UTSW |
2 |
166,698,468 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8738:Arfgef2
|
UTSW |
2 |
166,708,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Arfgef2
|
UTSW |
2 |
166,677,386 (GRCm39) |
intron |
probably benign |
|
|
R8967:Arfgef2
|
UTSW |
2 |
166,677,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Arfgef2
|
UTSW |
2 |
166,701,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8972:Arfgef2
|
UTSW |
2 |
166,709,253 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9010:Arfgef2
|
UTSW |
2 |
166,701,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9077:Arfgef2
|
UTSW |
2 |
166,706,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9249:Arfgef2
|
UTSW |
2 |
166,733,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9306:Arfgef2
|
UTSW |
2 |
166,723,188 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9394:Arfgef2
|
UTSW |
2 |
166,676,469 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9776:Arfgef2
|
UTSW |
2 |
166,713,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0040:Arfgef2
|
UTSW |
2 |
166,701,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Arfgef2
|
UTSW |
2 |
166,733,761 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1088:Arfgef2
|
UTSW |
2 |
166,735,515 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1176:Arfgef2
|
UTSW |
2 |
166,736,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGTACTAAATCAGCCAGGTGAG -3'
(R):5'- TCAGGAAGGATGTCTCCTCCAGTG -3'
Sequencing Primer
(F):5'- tgggagacagaggcagg -3'
(R):5'- CCAGTGCCAGTTCCCAC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation