Incidental Mutation 'R5879:Arhgef2'
ID |
455700 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef2
|
Ensembl Gene |
ENSMUSG00000028059 |
Gene Name |
Rho/Rac guanine nucleotide exchange factor 2 |
Synonyms |
Lfc, Lbcl1, LFP40, P40, GEFH1, GEF-H1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.664)
|
Stock # |
R5879 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
88513273-88555359 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 88550924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134840
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029694]
[ENSMUST00000107510]
[ENSMUST00000170653]
[ENSMUST00000175779]
[ENSMUST00000175903]
[ENSMUST00000175911]
[ENSMUST00000176500]
[ENSMUST00000176804]
[ENSMUST00000177303]
[ENSMUST00000177498]
|
AlphaFold |
Q60875 |
Predicted Effect |
probably null
Transcript: ENSMUST00000029694
|
SMART Domains |
Protein: ENSMUSP00000029694 Gene: ENSMUSG00000028059
Domain | Start | End | E-Value | Type |
C1
|
40 |
86 |
4.22e-9 |
SMART |
low complexity region
|
90 |
95 |
N/A |
INTRINSIC |
low complexity region
|
133 |
146 |
N/A |
INTRINSIC |
RhoGEF
|
240 |
432 |
1.86e-58 |
SMART |
PH
|
474 |
574 |
9.56e-11 |
SMART |
coiled coil region
|
588 |
619 |
N/A |
INTRINSIC |
low complexity region
|
812 |
827 |
N/A |
INTRINSIC |
coiled coil region
|
829 |
866 |
N/A |
INTRINSIC |
low complexity region
|
872 |
888 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107510
|
SMART Domains |
Protein: ENSMUSP00000103134 Gene: ENSMUSG00000028059
Domain | Start | End | E-Value | Type |
C1
|
13 |
59 |
4.22e-9 |
SMART |
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
low complexity region
|
106 |
119 |
N/A |
INTRINSIC |
RhoGEF
|
213 |
405 |
1.86e-58 |
SMART |
PH
|
447 |
547 |
9.56e-11 |
SMART |
coiled coil region
|
561 |
592 |
N/A |
INTRINSIC |
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
coiled coil region
|
802 |
839 |
N/A |
INTRINSIC |
low complexity region
|
845 |
861 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170653
|
SMART Domains |
Protein: ENSMUSP00000127843 Gene: ENSMUSG00000028059
Domain | Start | End | E-Value | Type |
C1
|
13 |
59 |
4.22e-9 |
SMART |
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
RhoGEF
|
211 |
403 |
1.86e-58 |
SMART |
PH
|
445 |
545 |
9.56e-11 |
SMART |
coiled coil region
|
559 |
590 |
N/A |
INTRINSIC |
low complexity region
|
783 |
798 |
N/A |
INTRINSIC |
coiled coil region
|
800 |
837 |
N/A |
INTRINSIC |
low complexity region
|
843 |
859 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000175779
|
SMART Domains |
Protein: ENSMUSP00000135177 Gene: ENSMUSG00000028059
Domain | Start | End | E-Value | Type |
C1
|
25 |
71 |
4.22e-9 |
SMART |
low complexity region
|
75 |
80 |
N/A |
INTRINSIC |
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
RhoGEF
|
225 |
417 |
1.86e-58 |
SMART |
PH
|
459 |
559 |
9.56e-11 |
SMART |
coiled coil region
|
573 |
604 |
N/A |
INTRINSIC |
low complexity region
|
797 |
812 |
N/A |
INTRINSIC |
coiled coil region
|
814 |
851 |
N/A |
INTRINSIC |
low complexity region
|
857 |
873 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000175903
|
SMART Domains |
Protein: ENSMUSP00000135168 Gene: ENSMUSG00000028059
Domain | Start | End | E-Value | Type |
C1
|
25 |
71 |
4.22e-9 |
SMART |
low complexity region
|
75 |
80 |
N/A |
INTRINSIC |
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
RhoGEF
|
223 |
415 |
1.86e-58 |
SMART |
PH
|
457 |
557 |
9.56e-11 |
SMART |
coiled coil region
|
571 |
602 |
N/A |
INTRINSIC |
low complexity region
|
795 |
810 |
N/A |
INTRINSIC |
coiled coil region
|
812 |
849 |
N/A |
INTRINSIC |
low complexity region
|
855 |
871 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175911
|
SMART Domains |
Protein: ENSMUSP00000135428 Gene: ENSMUSG00000028059
Domain | Start | End | E-Value | Type |
C1
|
32 |
78 |
4.22e-9 |
SMART |
low complexity region
|
82 |
87 |
N/A |
INTRINSIC |
low complexity region
|
125 |
138 |
N/A |
INTRINSIC |
RhoGEF
|
232 |
424 |
1.86e-58 |
SMART |
PH
|
466 |
566 |
9.56e-11 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176500
|
SMART Domains |
Protein: ENSMUSP00000134834 Gene: ENSMUSG00000028059
Domain | Start | End | E-Value | Type |
C1
|
25 |
71 |
4.22e-9 |
SMART |
low complexity region
|
75 |
80 |
N/A |
INTRINSIC |
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
RhoGEF
|
225 |
417 |
1.86e-58 |
SMART |
PH
|
459 |
559 |
9.56e-11 |
SMART |
coiled coil region
|
573 |
604 |
N/A |
INTRINSIC |
low complexity region
|
797 |
812 |
N/A |
INTRINSIC |
coiled coil region
|
814 |
851 |
N/A |
INTRINSIC |
low complexity region
|
857 |
873 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176804
|
SMART Domains |
Protein: ENSMUSP00000135397 Gene: ENSMUSG00000028059
Domain | Start | End | E-Value | Type |
C1
|
40 |
86 |
4.22e-9 |
SMART |
low complexity region
|
90 |
95 |
N/A |
INTRINSIC |
low complexity region
|
133 |
146 |
N/A |
INTRINSIC |
RhoGEF
|
238 |
430 |
1.86e-58 |
SMART |
PH
|
472 |
572 |
9.56e-11 |
SMART |
coiled coil region
|
586 |
617 |
N/A |
INTRINSIC |
low complexity region
|
810 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
827 |
864 |
N/A |
INTRINSIC |
low complexity region
|
870 |
886 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000177303
|
SMART Domains |
Protein: ENSMUSP00000135131 Gene: ENSMUSG00000028059
Domain | Start | End | E-Value | Type |
C1
|
13 |
59 |
4.22e-9 |
SMART |
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
low complexity region
|
106 |
119 |
N/A |
INTRINSIC |
RhoGEF
|
211 |
403 |
1.86e-58 |
SMART |
PH
|
445 |
545 |
9.56e-11 |
SMART |
coiled coil region
|
559 |
590 |
N/A |
INTRINSIC |
low complexity region
|
783 |
798 |
N/A |
INTRINSIC |
coiled coil region
|
800 |
837 |
N/A |
INTRINSIC |
low complexity region
|
843 |
859 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000177498
|
SMART Domains |
Protein: ENSMUSP00000134840 Gene: ENSMUSG00000028059
Domain | Start | End | E-Value | Type |
C1
|
25 |
71 |
4.22e-9 |
SMART |
low complexity region
|
75 |
80 |
N/A |
INTRINSIC |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
RhoGEF
|
223 |
415 |
1.86e-58 |
SMART |
PH
|
457 |
557 |
9.56e-11 |
SMART |
coiled coil region
|
571 |
602 |
N/A |
INTRINSIC |
low complexity region
|
795 |
810 |
N/A |
INTRINSIC |
coiled coil region
|
812 |
849 |
N/A |
INTRINSIC |
low complexity region
|
855 |
871 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177099
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176272
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009] PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired response to viral infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh16a1 |
C |
T |
7: 44,796,930 (GRCm39) |
W66* |
probably null |
Het |
Arhgap39 |
T |
C |
15: 76,636,007 (GRCm39) |
D76G |
probably damaging |
Het |
C1qtnf2 |
T |
C |
11: 43,376,835 (GRCm39) |
M99T |
probably damaging |
Het |
Cyren |
A |
G |
6: 34,851,593 (GRCm39) |
L87P |
probably damaging |
Het |
Eml3 |
G |
A |
19: 8,912,379 (GRCm39) |
C392Y |
possibly damaging |
Het |
Ephb4 |
C |
A |
5: 137,358,678 (GRCm39) |
P287Q |
probably benign |
Het |
Fat4 |
G |
T |
3: 38,941,485 (GRCm39) |
R126L |
probably benign |
Het |
Flt3 |
T |
C |
5: 147,271,719 (GRCm39) |
M858V |
probably damaging |
Het |
Gprin3 |
A |
C |
6: 59,331,698 (GRCm39) |
I203R |
probably benign |
Het |
Insr |
G |
T |
8: 3,248,173 (GRCm39) |
Y457* |
probably null |
Het |
Ipo13 |
G |
A |
4: 117,760,400 (GRCm39) |
T649I |
possibly damaging |
Het |
Krba1 |
A |
G |
6: 48,392,678 (GRCm39) |
D818G |
possibly damaging |
Het |
Llgl1 |
G |
A |
11: 60,603,806 (GRCm39) |
G1016R |
probably benign |
Het |
Loxl4 |
A |
G |
19: 42,596,066 (GRCm39) |
V142A |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,340,992 (GRCm39) |
I464V |
probably benign |
Het |
Mycs |
C |
A |
X: 5,380,131 (GRCm39) |
K316N |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,103,839 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
A |
G |
16: 3,781,909 (GRCm39) |
F516S |
probably damaging |
Het |
Oacyl |
A |
G |
18: 65,882,743 (GRCm39) |
S540G |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,850,242 (GRCm39) |
T653S |
probably damaging |
Het |
Or8s16 |
C |
T |
15: 98,211,369 (GRCm39) |
V21I |
probably benign |
Het |
Pcnx2 |
A |
T |
8: 126,500,685 (GRCm39) |
N1468K |
probably damaging |
Het |
Plbd1 |
A |
G |
6: 136,611,503 (GRCm39) |
I258T |
probably damaging |
Het |
Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
Pramel21 |
A |
T |
4: 143,344,161 (GRCm39) |
Y487F |
possibly damaging |
Het |
Prop1 |
C |
T |
11: 50,844,153 (GRCm39) |
V27M |
probably damaging |
Het |
Rfx4 |
T |
G |
10: 84,650,625 (GRCm39) |
|
probably null |
Het |
Rgs11 |
C |
T |
17: 26,422,437 (GRCm39) |
|
probably benign |
Het |
Slc6a5 |
T |
A |
7: 49,595,260 (GRCm39) |
F541I |
probably damaging |
Het |
Srgap3 |
A |
T |
6: 112,699,807 (GRCm39) |
V1057E |
possibly damaging |
Het |
Synpo2 |
A |
T |
3: 122,907,946 (GRCm39) |
W457R |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,193,721 (GRCm39) |
N238Y |
possibly damaging |
Het |
Tiam2 |
T |
A |
17: 3,487,540 (GRCm39) |
M687K |
probably damaging |
Het |
Ticrr |
A |
G |
7: 79,346,438 (GRCm39) |
E1866G |
probably benign |
Het |
Tspan8 |
T |
C |
10: 115,669,156 (GRCm39) |
S64P |
possibly damaging |
Het |
Ugt2b37 |
C |
T |
5: 87,402,265 (GRCm39) |
G122D |
probably benign |
Het |
Uqcrc2 |
A |
G |
7: 120,237,111 (GRCm39) |
E53G |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,852,071 (GRCm39) |
D963G |
probably damaging |
Het |
Vmn2r24 |
T |
A |
6: 123,764,226 (GRCm39) |
Y368N |
possibly damaging |
Het |
Wdr5 |
A |
G |
2: 27,418,323 (GRCm39) |
T208A |
probably benign |
Het |
Zbtb18 |
A |
G |
1: 177,275,936 (GRCm39) |
Y423C |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,839,696 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Arhgef2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01913:Arhgef2
|
APN |
3 |
88,539,226 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02165:Arhgef2
|
APN |
3 |
88,553,527 (GRCm39) |
missense |
probably damaging |
1.00 |
monument
|
UTSW |
3 |
88,540,955 (GRCm39) |
critical splice donor site |
probably null |
|
R0090:Arhgef2
|
UTSW |
3 |
88,546,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R0330:Arhgef2
|
UTSW |
3 |
88,549,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R0414:Arhgef2
|
UTSW |
3 |
88,539,575 (GRCm39) |
splice site |
probably benign |
|
R0631:Arhgef2
|
UTSW |
3 |
88,541,743 (GRCm39) |
missense |
probably damaging |
0.99 |
R1635:Arhgef2
|
UTSW |
3 |
88,546,628 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1688:Arhgef2
|
UTSW |
3 |
88,547,607 (GRCm39) |
missense |
probably benign |
0.32 |
R1751:Arhgef2
|
UTSW |
3 |
88,551,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R1767:Arhgef2
|
UTSW |
3 |
88,551,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R1836:Arhgef2
|
UTSW |
3 |
88,546,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R1853:Arhgef2
|
UTSW |
3 |
88,540,222 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1934:Arhgef2
|
UTSW |
3 |
88,537,098 (GRCm39) |
missense |
probably damaging |
0.96 |
R2155:Arhgef2
|
UTSW |
3 |
88,543,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R2206:Arhgef2
|
UTSW |
3 |
88,537,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R2360:Arhgef2
|
UTSW |
3 |
88,541,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R3916:Arhgef2
|
UTSW |
3 |
88,540,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R4090:Arhgef2
|
UTSW |
3 |
88,551,185 (GRCm39) |
missense |
probably benign |
0.01 |
R4732:Arhgef2
|
UTSW |
3 |
88,539,247 (GRCm39) |
nonsense |
probably null |
|
R4733:Arhgef2
|
UTSW |
3 |
88,539,247 (GRCm39) |
nonsense |
probably null |
|
R4837:Arhgef2
|
UTSW |
3 |
88,540,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R4952:Arhgef2
|
UTSW |
3 |
88,549,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R5152:Arhgef2
|
UTSW |
3 |
88,536,875 (GRCm39) |
splice site |
probably null |
|
R5194:Arhgef2
|
UTSW |
3 |
88,542,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R5250:Arhgef2
|
UTSW |
3 |
88,540,955 (GRCm39) |
critical splice donor site |
probably null |
|
R5334:Arhgef2
|
UTSW |
3 |
88,553,636 (GRCm39) |
missense |
probably damaging |
0.96 |
R5514:Arhgef2
|
UTSW |
3 |
88,550,304 (GRCm39) |
missense |
probably benign |
0.01 |
R5560:Arhgef2
|
UTSW |
3 |
88,541,744 (GRCm39) |
missense |
probably damaging |
0.97 |
R5595:Arhgef2
|
UTSW |
3 |
88,550,283 (GRCm39) |
missense |
probably benign |
0.00 |
R5910:Arhgef2
|
UTSW |
3 |
88,542,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R5914:Arhgef2
|
UTSW |
3 |
88,543,176 (GRCm39) |
missense |
probably benign |
|
R5918:Arhgef2
|
UTSW |
3 |
88,543,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R6181:Arhgef2
|
UTSW |
3 |
88,542,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R6489:Arhgef2
|
UTSW |
3 |
88,550,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R7167:Arhgef2
|
UTSW |
3 |
88,551,179 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7289:Arhgef2
|
UTSW |
3 |
88,543,192 (GRCm39) |
missense |
probably benign |
|
R7318:Arhgef2
|
UTSW |
3 |
88,539,610 (GRCm39) |
missense |
probably damaging |
0.98 |
R7353:Arhgef2
|
UTSW |
3 |
88,542,993 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7402:Arhgef2
|
UTSW |
3 |
88,540,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R7441:Arhgef2
|
UTSW |
3 |
88,551,262 (GRCm39) |
missense |
probably damaging |
0.96 |
R7899:Arhgef2
|
UTSW |
3 |
88,528,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R7934:Arhgef2
|
UTSW |
3 |
88,537,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R8002:Arhgef2
|
UTSW |
3 |
88,554,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R8254:Arhgef2
|
UTSW |
3 |
88,549,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R8297:Arhgef2
|
UTSW |
3 |
88,546,739 (GRCm39) |
missense |
probably benign |
0.00 |
R8314:Arhgef2
|
UTSW |
3 |
88,528,600 (GRCm39) |
missense |
probably benign |
0.00 |
R8350:Arhgef2
|
UTSW |
3 |
88,553,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R8450:Arhgef2
|
UTSW |
3 |
88,553,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Arhgef2
|
UTSW |
3 |
88,536,850 (GRCm39) |
missense |
probably benign |
0.00 |
R9632:Arhgef2
|
UTSW |
3 |
88,528,576 (GRCm39) |
missense |
probably benign |
0.43 |
R9710:Arhgef2
|
UTSW |
3 |
88,528,576 (GRCm39) |
missense |
probably benign |
0.43 |
V1662:Arhgef2
|
UTSW |
3 |
88,540,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAAATTGTAGCCAGTTTGGATG -3'
(R):5'- GAACAGGGCTTCCATCAGTC -3'
Sequencing Primer
(F):5'- GCCAGTTTGGATGATACTTTTAAGTC -3'
(R):5'- TTTCCTGCTGGACCACAACAG -3'
|
Posted On |
2017-02-10 |