Incidental Mutation 'R2206:Arhgef2'
| ID |
239027 |
| 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 |
040208-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R2206 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88513273-88555359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88537221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 37
(E37G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029694]
[ENSMUST00000107510]
[ENSMUST00000170653]
[ENSMUST00000175745]
[ENSMUST00000175779]
[ENSMUST00000175903]
[ENSMUST00000175911]
[ENSMUST00000176316]
[ENSMUST00000176539]
[ENSMUST00000176307]
[ENSMUST00000176500]
[ENSMUST00000177023]
[ENSMUST00000176804]
[ENSMUST00000176879]
[ENSMUST00000176243]
[ENSMUST00000177303]
[ENSMUST00000177498]
|
| AlphaFold |
Q60875 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029694
AA Change: E64G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: E64G
| 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: E37G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: E37G
| 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: E37G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: E37G
| 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 damaging
Transcript: ENSMUST00000175745
AA Change: E37G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135044
Gene: ENSMUSG00000028059
AA Change: E37G
| 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: E49G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: E49G
| 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: E49G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: E49G
| 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: E56G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: E56G
| 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: ENSMUST00000176316
AA Change: E56G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135808
Gene: ENSMUSG00000028059
AA Change: E56G
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
32 |
78 |
4.22e-9 |
SMART |
|
low complexity region
|
82 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176539
AA Change: E49G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135612
Gene: ENSMUSG00000028059
AA Change: E49G
| 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 damaging
Transcript: ENSMUST00000176307
AA Change: E37G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134843
Gene: ENSMUSG00000028059
AA Change: E37G
| 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: ENSMUST00000176500
AA Change: E49G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: E49G
| 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: ENSMUST00000177023
AA Change: E49G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134859
Gene: ENSMUSG00000028059
AA Change: E49G
| 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 damaging
Transcript: ENSMUST00000176804
AA Change: E64G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: E64G
| 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 damaging
Transcript: ENSMUST00000176879
AA Change: E56G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134766
Gene: ENSMUSG00000028059
AA Change: E56G
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
32 |
78 |
4.22e-9 |
SMART |
|
low complexity region
|
82 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176243
AA Change: E37G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135771
Gene: ENSMUSG00000028059
AA Change: E37G
| 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 |
noncoding transcript
Transcript: ENSMUST00000176400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176123
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177303
AA Change: E37G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: E37G
| 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: E49G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: E49G
| 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: ENSMUST00000177091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177418
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 130,964,331 (GRCm39) |
C24S |
probably benign |
Het |
| 2410137M14Rik |
A |
G |
17: 37,288,965 (GRCm39) |
|
probably benign |
Het |
| Abhd18 |
G |
A |
3: 40,865,008 (GRCm39) |
G83D |
probably benign |
Het |
| Adam34 |
T |
C |
8: 44,105,274 (GRCm39) |
I124V |
probably benign |
Het |
| Adck2 |
A |
G |
6: 39,560,773 (GRCm39) |
D123G |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,470,061 (GRCm39) |
Y466C |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bpifb9a |
A |
T |
2: 154,106,161 (GRCm39) |
|
probably null |
Het |
| Brip1 |
A |
G |
11: 85,952,703 (GRCm39) |
V1026A |
probably benign |
Het |
| Cacna1h |
A |
T |
17: 25,603,987 (GRCm39) |
S1282T |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,717,133 (GRCm39) |
Y109C |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cst13 |
A |
T |
2: 148,665,202 (GRCm39) |
R66W |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,061,175 (GRCm39) |
N237S |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,641,797 (GRCm39) |
T632A |
probably benign |
Het |
| Disp2 |
G |
T |
2: 118,622,725 (GRCm39) |
Q1152H |
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,672,664 (GRCm39) |
H599R |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,027,161 (GRCm39) |
S2090P |
probably benign |
Het |
| Dnajc13 |
C |
G |
9: 104,080,717 (GRCm39) |
V821L |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,403,652 (GRCm39) |
H1617Q |
probably benign |
Het |
| Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
| Ephb4 |
T |
C |
5: 137,355,981 (GRCm39) |
C197R |
probably damaging |
Het |
| Foxn1 |
C |
A |
11: 78,249,630 (GRCm39) |
A632S |
probably benign |
Het |
| Fpr3 |
A |
C |
17: 18,190,908 (GRCm39) |
T60P |
probably damaging |
Het |
| Gja4 |
A |
T |
4: 127,206,410 (GRCm39) |
S118T |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itfg1 |
A |
T |
8: 86,502,827 (GRCm39) |
S246R |
probably benign |
Het |
| Kazn |
A |
T |
4: 141,845,603 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
T |
C |
4: 32,716,271 (GRCm39) |
L2111P |
possibly damaging |
Het |
| Myo6 |
A |
G |
9: 80,165,737 (GRCm39) |
Y374C |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,223,676 (GRCm39) |
G456W |
probably benign |
Het |
| Or1a1 |
G |
T |
11: 74,087,150 (GRCm39) |
V274L |
possibly damaging |
Het |
| Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
| Or5b99 |
A |
G |
19: 12,976,404 (GRCm39) |
D18G |
probably benign |
Het |
| Or9m1b |
A |
G |
2: 87,836,579 (GRCm39) |
V181A |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,608,075 (GRCm39) |
T436S |
probably benign |
Het |
| Pcdhb18 |
T |
A |
18: 37,624,342 (GRCm39) |
N557K |
probably damaging |
Het |
| Pcdhb6 |
T |
C |
18: 37,468,633 (GRCm39) |
M518T |
probably benign |
Het |
| Pcmtd1 |
A |
T |
1: 7,239,807 (GRCm39) |
I83L |
probably benign |
Het |
| Pitrm1 |
T |
A |
13: 6,619,327 (GRCm39) |
Y721N |
probably damaging |
Het |
| Prcp |
C |
T |
7: 92,577,820 (GRCm39) |
T328I |
probably damaging |
Het |
| Psg27 |
C |
A |
7: 18,301,036 (GRCm39) |
E6* |
probably null |
Het |
| Pth1r |
T |
A |
9: 110,552,655 (GRCm39) |
E465V |
probably damaging |
Het |
| Pus7l |
T |
C |
15: 94,421,471 (GRCm39) |
Y613C |
probably damaging |
Het |
| Rsl1 |
A |
G |
13: 67,330,892 (GRCm39) |
T447A |
probably benign |
Het |
| Setd3 |
C |
T |
12: 108,073,544 (GRCm39) |
V578M |
probably benign |
Het |
| Slc10a1 |
T |
C |
12: 81,014,402 (GRCm39) |
N106S |
probably damaging |
Het |
| Slc29a3 |
T |
C |
10: 60,551,686 (GRCm39) |
M453V |
possibly damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,705,326 (GRCm39) |
V844A |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,218,655 (GRCm39) |
H609R |
possibly damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,890,920 (GRCm39) |
V300A |
probably benign |
Het |
| Tmppe |
C |
G |
9: 114,234,640 (GRCm39) |
P313R |
probably benign |
Het |
| Tnxb |
A |
C |
17: 34,928,391 (GRCm39) |
T2602P |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,839,701 (GRCm39) |
N1643S |
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,311,594 (GRCm39) |
|
probably null |
Het |
| Vmn1r177 |
A |
T |
7: 23,565,556 (GRCm39) |
C107S |
probably damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,611 (GRCm39) |
I17M |
possibly damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,910,678 (GRCm39) |
V690E |
possibly damaging |
Het |
| Xaf1 |
A |
T |
11: 72,194,228 (GRCm39) |
E36D |
possibly damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,744,596 (GRCm39) |
Q275* |
probably null |
Het |
| Zfp513 |
T |
G |
5: 31,357,767 (GRCm39) |
K202T |
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 |
|
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 |
|
|
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'- CCTCTCTAGGCAGGCATTTC -3'
(R):5'- AGACCAAGCACCTGAGCATG -3'
Sequencing Primer
(F):5'- AGGCAGGCATTTCTCCCATG -3'
(R):5'- TGAGCATGACACTTGAGCC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation