Incidental Mutation 'R5918:Arhgef2'
| ID |
461450 |
| 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 |
| MMRRC Submission |
044115-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R5918 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88513273-88555359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88543387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 454
(K454R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029694]
[ENSMUST00000107510]
[ENSMUST00000170653]
[ENSMUST00000175745]
[ENSMUST00000175779]
[ENSMUST00000175903]
[ENSMUST00000175911]
[ENSMUST00000176500]
[ENSMUST00000176804]
[ENSMUST00000176879]
[ENSMUST00000176243]
[ENSMUST00000176539]
[ENSMUST00000176307]
[ENSMUST00000177023]
[ENSMUST00000176316]
[ENSMUST00000177303]
[ENSMUST00000177498]
|
| AlphaFold |
Q60875 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029694
AA Change: K483R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: K483R
| 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 damaging
Transcript: ENSMUST00000107510
AA Change: K456R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: K456R
| 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 damaging
Transcript: ENSMUST00000170653
AA Change: K454R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: K454R
| 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 benign
Transcript: ENSMUST00000175745
|
| SMART Domains |
Protein: ENSMUSP00000135044
Gene: ENSMUSG00000028059
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
13 |
59 |
4.22e-9 |
SMART |
|
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175779
AA Change: K468R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: K468R
| 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 damaging
Transcript: ENSMUST00000175903
AA Change: K466R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: K466R
| 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 damaging
Transcript: ENSMUST00000175911
AA Change: K475R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: K475R
| 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 damaging
Transcript: ENSMUST00000176500
AA Change: K468R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: K468R
| 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 damaging
Transcript: ENSMUST00000176804
AA Change: K481R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: K481R
| 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 |
noncoding transcript
Transcript: ENSMUST00000176301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176879
|
| SMART Domains |
Protein: ENSMUSP00000134766
Gene: ENSMUSG00000028059
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
32 |
78 |
4.22e-9 |
SMART |
|
low complexity region
|
82 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176243
|
| SMART Domains |
Protein: ENSMUSP00000135771
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 |
|
Blast:RhoGEF
|
170 |
203 |
1e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176539
|
| SMART Domains |
Protein: ENSMUSP00000135612
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 |
|
Blast:RhoGEF
|
184 |
253 |
2e-28 |
BLAST |
|
PDB:4D0N|B
|
196 |
255 |
1e-17 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176307
|
| SMART Domains |
Protein: ENSMUSP00000134843
Gene: ENSMUSG00000028059
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
13 |
59 |
4.22e-9 |
SMART |
|
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177023
|
| SMART Domains |
Protein: ENSMUSP00000134859
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 |
|
Blast:RhoGEF
|
182 |
208 |
5e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176316
|
| SMART Domains |
Protein: ENSMUSP00000135808
Gene: ENSMUSG00000028059
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
32 |
78 |
4.22e-9 |
SMART |
|
low complexity region
|
82 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177091
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177303
AA Change: K454R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: K454R
| 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 damaging
Transcript: ENSMUST00000177498
AA Change: K466R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: K466R
| 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: ENSMUST00000177120
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177418
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
93% (66/71) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
T |
5: 36,131,869 (GRCm39) |
I399F |
possibly damaging |
Het |
| Aknad1 |
C |
T |
3: 108,659,703 (GRCm39) |
P239L |
probably benign |
Het |
| Ankrd9 |
A |
G |
12: 110,943,200 (GRCm39) |
V245A |
probably benign |
Het |
| Anxa1 |
T |
C |
19: 20,355,857 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,708,064 (GRCm39) |
T227A |
probably benign |
Het |
| Bbs2 |
C |
T |
8: 94,824,931 (GRCm39) |
R17H |
probably damaging |
Het |
| Bcl2l12 |
A |
G |
7: 44,640,888 (GRCm39) |
|
probably benign |
Het |
| C1qtnf9 |
G |
T |
14: 61,009,737 (GRCm39) |
|
probably benign |
Het |
| Ccdc38 |
C |
G |
10: 93,406,748 (GRCm39) |
Y219* |
probably null |
Het |
| Ceacam3 |
G |
T |
7: 16,893,670 (GRCm39) |
D394Y |
probably damaging |
Het |
| Crip1 |
A |
C |
12: 113,117,287 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,260,803 (GRCm39) |
V1987A |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,725,025 (GRCm39) |
C4376F |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,763,332 (GRCm39) |
F446L |
probably damaging |
Het |
| Garin1a |
A |
G |
6: 29,285,942 (GRCm39) |
R76G |
probably null |
Het |
| Gm14322 |
A |
G |
2: 177,411,499 (GRCm39) |
D103G |
probably benign |
Het |
| Gpa33 |
T |
C |
1: 165,958,107 (GRCm39) |
|
probably null |
Het |
| Lactb2 |
T |
A |
1: 13,720,954 (GRCm39) |
I93F |
probably benign |
Het |
| Lifr |
A |
T |
15: 7,188,897 (GRCm39) |
T93S |
probably benign |
Het |
| Lmbr1l |
A |
T |
15: 98,810,308 (GRCm39) |
I101N |
probably damaging |
Het |
| Lrrc8c |
G |
A |
5: 105,756,117 (GRCm39) |
V631M |
possibly damaging |
Het |
| Mctp2 |
A |
C |
7: 71,878,288 (GRCm39) |
D263E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,307,051 (GRCm39) |
I1627N |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,087,906 (GRCm39) |
Y5188C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,460,048 (GRCm39) |
|
probably benign |
Het |
| Nr6a1 |
T |
C |
2: 38,629,103 (GRCm39) |
D250G |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,987,128 (GRCm39) |
E168G |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,944 (GRCm39) |
V205A |
probably damaging |
Het |
| Or2d2b |
T |
A |
7: 106,705,828 (GRCm39) |
Q80L |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,425 (GRCm39) |
I83T |
probably benign |
Het |
| Or7g22 |
T |
C |
9: 19,048,684 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or9i1b |
T |
A |
19: 13,897,139 (GRCm39) |
F252I |
probably damaging |
Het |
| Pik3r6 |
C |
T |
11: 68,416,497 (GRCm39) |
Q29* |
probably null |
Het |
| Ppargc1a |
C |
T |
5: 51,620,579 (GRCm39) |
|
probably benign |
Het |
| Ppl |
C |
T |
16: 4,922,765 (GRCm39) |
R242H |
probably benign |
Het |
| Ppp1r37 |
G |
T |
7: 19,266,036 (GRCm39) |
Q577K |
probably benign |
Het |
| Prcd |
A |
G |
11: 116,548,366 (GRCm39) |
E25G |
probably damaging |
Het |
| Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
| Ptgs1 |
A |
C |
2: 36,141,089 (GRCm39) |
E512A |
probably damaging |
Het |
| Radil |
T |
G |
5: 142,473,357 (GRCm39) |
I535L |
probably benign |
Het |
| Rbl2 |
G |
T |
8: 91,816,758 (GRCm39) |
V373F |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,708,577 (GRCm39) |
Y4802C |
probably benign |
Het |
| Sdc2 |
A |
G |
15: 33,028,313 (GRCm39) |
T144A |
probably benign |
Het |
| Senp6 |
T |
C |
9: 80,021,398 (GRCm39) |
|
probably null |
Het |
| Sipa1l3 |
T |
C |
7: 29,096,631 (GRCm39) |
D531G |
probably damaging |
Het |
| Slc22a27 |
C |
A |
19: 7,887,411 (GRCm39) |
C189F |
possibly damaging |
Het |
| Srcin1 |
T |
C |
11: 97,424,323 (GRCm39) |
|
probably null |
Het |
| Svep1 |
C |
T |
4: 58,069,345 (GRCm39) |
E2814K |
possibly damaging |
Het |
| Tjp3 |
T |
G |
10: 81,113,746 (GRCm39) |
H504P |
probably benign |
Het |
| Tmprss4 |
T |
A |
9: 45,086,414 (GRCm39) |
K378* |
probably null |
Het |
| Tns4 |
C |
T |
11: 98,964,497 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,580,298 (GRCm39) |
T15205A |
possibly damaging |
Het |
| Ush2a |
G |
T |
1: 188,089,011 (GRCm39) |
G322V |
probably benign |
Het |
| Vac14 |
A |
T |
8: 111,363,104 (GRCm39) |
|
probably null |
Het |
| Vmn1r175 |
T |
G |
7: 23,508,372 (GRCm39) |
D85A |
probably damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,030 (GRCm39) |
L634P |
probably damaging |
Het |
| Zeb2 |
A |
T |
2: 45,001,271 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
T |
A |
11: 73,974,086 (GRCm39) |
H118Q |
possibly damaging |
Het |
| Zfp945 |
T |
A |
17: 23,069,955 (GRCm39) |
H648L |
probably damaging |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably damaging |
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 |
|
R5879:Arhgef2
|
UTSW |
3 |
88,550,924 (GRCm39) |
splice site |
probably null |
|
|
R5910:Arhgef2
|
UTSW |
3 |
88,542,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Arhgef2
|
UTSW |
3 |
88,543,176 (GRCm39) |
missense |
probably benign |
|
|
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'- AGCCCTAGGACTAGTGAAGG -3'
(R):5'- TCACTCTGGGTCTCCAAGATG -3'
Sequencing Primer
(F):5'- CCCTAGGACTAGTGAAGGAGTTG -3'
(R):5'- CTCTGGGTCTCCAAGATGCATTTTTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation