Incidental Mutation 'R1853:Arhgef2'
| ID |
208303 |
| 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 |
039877-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R1853 (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 T
at 88540222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 107
(T107S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029694]
[ENSMUST00000107510]
[ENSMUST00000170653]
[ENSMUST00000175745]
[ENSMUST00000175779]
[ENSMUST00000175903]
[ENSMUST00000175911]
[ENSMUST00000176879]
[ENSMUST00000176500]
[ENSMUST00000177023]
[ENSMUST00000176539]
[ENSMUST00000176243]
[ENSMUST00000176316]
[ENSMUST00000176804]
[ENSMUST00000176307]
[ENSMUST00000177303]
[ENSMUST00000177498]
|
| AlphaFold |
Q60875 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029694
AA Change: T115S
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: T115S
| 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 benign
Transcript: ENSMUST00000107510
AA Change: T88S
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: T88S
| 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 benign
Transcript: ENSMUST00000170653
AA Change: T86S
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: T86S
| 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 benign
Transcript: ENSMUST00000175779
AA Change: T100S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: T100S
| 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 benign
Transcript: ENSMUST00000175903
AA Change: T100S
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: T100S
| 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 |
possibly damaging
Transcript: ENSMUST00000175911
AA Change: T107S
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: T107S
| 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 benign
Transcript: ENSMUST00000176879
AA Change: T105S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134766
Gene: ENSMUSG00000028059
AA Change: T105S
| 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: ENSMUST00000176500
AA Change: T100S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: T100S
| 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 benign
Transcript: ENSMUST00000177023
AA Change: T98S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134859
Gene: ENSMUSG00000028059
AA Change: T98S
| 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: ENSMUST00000176539
AA Change: T100S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135612
Gene: ENSMUSG00000028059
AA Change: T100S
| 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: ENSMUST00000176243
AA Change: T86S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135771
Gene: ENSMUSG00000028059
AA Change: T86S
| 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: ENSMUST00000176316
AA Change: T107S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000135808
Gene: ENSMUSG00000028059
AA Change: T107S
| 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: ENSMUST00000176804
AA Change: T115S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: T115S
| 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 benign
Transcript: ENSMUST00000176307
AA Change: T86S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134843
Gene: ENSMUSG00000028059
AA Change: T86S
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
13 |
59 |
4.22e-9 |
SMART |
|
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177303
AA Change: T88S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: T88S
| 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 benign
Transcript: ENSMUST00000177498
AA Change: T98S
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: T98S
| 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: ENSMUST00000177418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177120
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.2%
|
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
C |
11: 69,901,696 (GRCm39) |
K554E |
probably damaging |
Het |
| Acap2 |
C |
T |
16: 30,936,122 (GRCm39) |
E322K |
probably damaging |
Het |
| Adam32 |
T |
C |
8: 25,388,642 (GRCm39) |
Y354C |
probably benign |
Het |
| Agl |
A |
T |
3: 116,572,971 (GRCm39) |
Y789* |
probably null |
Het |
| Aida |
A |
G |
1: 183,087,380 (GRCm39) |
T68A |
probably benign |
Het |
| Aldh3b3 |
T |
A |
19: 4,015,822 (GRCm39) |
L264Q |
probably damaging |
Het |
| Anks6 |
T |
C |
4: 47,049,387 (GRCm39) |
T173A |
probably benign |
Het |
| Ankzf1 |
A |
G |
1: 75,174,772 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,060,928 (GRCm39) |
K3137* |
probably null |
Het |
| Arhgef16 |
C |
T |
4: 154,375,563 (GRCm39) |
V144I |
probably benign |
Het |
| Ark2c |
T |
A |
18: 77,550,671 (GRCm39) |
S279C |
possibly damaging |
Het |
| Atad2 |
G |
A |
15: 57,960,685 (GRCm39) |
P971L |
possibly damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,707 (GRCm39) |
E325G |
probably damaging |
Het |
| BC035947 |
T |
C |
1: 78,475,653 (GRCm39) |
N293S |
possibly damaging |
Het |
| Bhmt |
C |
T |
13: 93,761,843 (GRCm39) |
V147M |
probably damaging |
Het |
| Ccdc112 |
A |
T |
18: 46,418,767 (GRCm39) |
H447Q |
probably benign |
Het |
| Cd274 |
T |
A |
19: 29,357,882 (GRCm39) |
N191K |
probably damaging |
Het |
| Ckmt1 |
C |
T |
2: 121,191,131 (GRCm39) |
T181I |
probably damaging |
Het |
| Cnih3 |
C |
A |
1: 181,282,186 (GRCm39) |
S140* |
probably null |
Het |
| Col28a1 |
T |
G |
6: 8,014,574 (GRCm39) |
I944L |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,408,601 (GRCm39) |
T1007A |
probably benign |
Het |
| Cux2 |
G |
T |
5: 122,007,184 (GRCm39) |
P826T |
possibly damaging |
Het |
| Cyren |
A |
G |
6: 34,852,494 (GRCm39) |
V67A |
probably damaging |
Het |
| Dap3 |
A |
T |
3: 88,838,233 (GRCm39) |
V86E |
probably damaging |
Het |
| Ddah1 |
A |
G |
3: 145,597,304 (GRCm39) |
I180M |
probably benign |
Het |
| Ddt |
T |
C |
10: 75,609,138 (GRCm39) |
E7G |
possibly damaging |
Het |
| Dhx57 |
A |
T |
17: 80,582,308 (GRCm39) |
Y432* |
probably null |
Het |
| Dpp9 |
T |
C |
17: 56,509,885 (GRCm39) |
I314V |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,709,219 (GRCm39) |
E803K |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,298,773 (GRCm39) |
I1387N |
possibly damaging |
Het |
| Fancg |
T |
C |
4: 43,009,727 (GRCm39) |
E57G |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,854,971 (GRCm39) |
Q1866* |
probably null |
Het |
| Fkbp5 |
A |
T |
17: 28,648,281 (GRCm39) |
C103S |
possibly damaging |
Het |
| Gm14403 |
C |
A |
2: 177,200,932 (GRCm39) |
H293N |
probably damaging |
Het |
| Gm4353 |
G |
A |
7: 115,682,804 (GRCm39) |
P259L |
probably benign |
Het |
| Gm4787 |
T |
A |
12: 81,425,108 (GRCm39) |
H350L |
probably damaging |
Het |
| Hibch |
T |
C |
1: 52,940,494 (GRCm39) |
|
probably null |
Het |
| Impg2 |
T |
C |
16: 56,080,640 (GRCm39) |
S815P |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,997,395 (GRCm39) |
I688K |
probably benign |
Het |
| Kcnd3 |
A |
T |
3: 105,367,068 (GRCm39) |
T313S |
probably damaging |
Het |
| Kctd14 |
A |
T |
7: 97,102,631 (GRCm39) |
S38C |
possibly damaging |
Het |
| Kdm3b |
G |
T |
18: 34,966,446 (GRCm39) |
R1660L |
probably damaging |
Het |
| Kdr |
C |
T |
5: 76,113,565 (GRCm39) |
G768S |
possibly damaging |
Het |
| Klhl2 |
G |
A |
8: 65,275,658 (GRCm39) |
H82Y |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,646,762 (GRCm39) |
T1759S |
possibly damaging |
Het |
| Lamb1 |
T |
G |
12: 31,368,271 (GRCm39) |
C1134G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,406,513 (GRCm39) |
|
probably null |
Het |
| Mlph |
C |
T |
1: 90,873,389 (GRCm39) |
Q567* |
probably null |
Het |
| Mocos |
A |
C |
18: 24,829,026 (GRCm39) |
E777A |
probably damaging |
Het |
| Neil1 |
T |
A |
9: 57,051,999 (GRCm39) |
Q214L |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,883,114 (GRCm39) |
T458A |
possibly damaging |
Het |
| Nlgn1 |
A |
T |
3: 26,187,671 (GRCm39) |
N71K |
possibly damaging |
Het |
| Nr4a1 |
T |
C |
15: 101,169,645 (GRCm39) |
I305T |
probably benign |
Het |
| Nup58 |
T |
C |
14: 60,481,996 (GRCm39) |
T123A |
possibly damaging |
Het |
| Oas1c |
A |
T |
5: 120,946,060 (GRCm39) |
V146E |
probably damaging |
Het |
| Oit3 |
C |
T |
10: 59,277,444 (GRCm39) |
|
probably null |
Het |
| Or12k8 |
A |
T |
2: 36,975,232 (GRCm39) |
F176Y |
probably damaging |
Het |
| Or4k15c |
A |
G |
14: 50,321,577 (GRCm39) |
L187P |
probably damaging |
Het |
| Osbp |
T |
C |
19: 11,951,255 (GRCm39) |
S267P |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,726,698 (GRCm39) |
|
probably benign |
Het |
| Pde9a |
C |
T |
17: 31,674,094 (GRCm39) |
P60S |
probably damaging |
Het |
| Pdia3 |
T |
C |
2: 121,262,144 (GRCm39) |
I205T |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,790,161 (GRCm39) |
D26E |
unknown |
Het |
| Pds5a |
A |
G |
5: 65,781,372 (GRCm39) |
V1036A |
possibly damaging |
Het |
| Pitx3 |
C |
T |
19: 46,125,912 (GRCm39) |
G4R |
probably benign |
Het |
| Pnn |
T |
A |
12: 59,118,399 (GRCm39) |
N327K |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,454,719 (GRCm39) |
I984R |
possibly damaging |
Het |
| Psme2 |
T |
A |
14: 55,825,936 (GRCm39) |
I124F |
probably damaging |
Het |
| Pstpip2 |
T |
A |
18: 77,959,499 (GRCm39) |
L198Q |
probably damaging |
Het |
| Siglece |
A |
G |
7: 43,309,360 (GRCm39) |
F66S |
probably benign |
Het |
| Slc1a6 |
T |
A |
10: 78,648,758 (GRCm39) |
V493E |
probably damaging |
Het |
| Snd1 |
T |
A |
6: 28,545,563 (GRCm39) |
I373N |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 24,039,499 (GRCm39) |
T2144A |
probably damaging |
Het |
| Sst |
A |
G |
16: 23,709,403 (GRCm39) |
L31P |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,862,420 (GRCm39) |
V2305M |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,519,232 (GRCm39) |
I545T |
probably damaging |
Het |
| Tcaim |
T |
C |
9: 122,655,271 (GRCm39) |
W248R |
probably damaging |
Het |
| Tepsin |
A |
C |
11: 119,989,462 (GRCm39) |
F13C |
probably damaging |
Het |
| Terf1 |
T |
A |
1: 15,889,162 (GRCm39) |
L197* |
probably null |
Het |
| Tiam2 |
C |
T |
17: 3,465,410 (GRCm39) |
R380C |
probably damaging |
Het |
| Tmem63b |
G |
A |
17: 45,972,223 (GRCm39) |
H745Y |
possibly damaging |
Het |
| Trim40 |
A |
G |
17: 37,199,970 (GRCm39) |
L36P |
probably damaging |
Het |
| Trim72 |
A |
G |
7: 127,608,254 (GRCm39) |
I251V |
probably benign |
Het |
| Trio |
T |
C |
15: 27,756,622 (GRCm39) |
Y914C |
probably damaging |
Het |
| Vmn2r113 |
G |
A |
17: 23,164,501 (GRCm39) |
V135I |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,696,429 (GRCm39) |
H326L |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,484,246 (GRCm39) |
C651* |
probably null |
Het |
| Xpnpep1 |
T |
C |
19: 52,994,641 (GRCm39) |
E329G |
probably benign |
Het |
| Xpo4 |
G |
A |
14: 57,823,364 (GRCm39) |
T1042M |
possibly damaging |
Het |
| Ypel1 |
A |
C |
16: 16,925,087 (GRCm39) |
D28E |
probably benign |
Het |
| Zdbf2 |
GAAAAA |
GAAAAAA |
1: 63,344,701 (GRCm39) |
|
probably null |
Het |
| Zfp51 |
A |
T |
17: 21,684,585 (GRCm39) |
H400L |
probably damaging |
Het |
| Zfp518b |
A |
T |
5: 38,830,750 (GRCm39) |
F418L |
probably benign |
Het |
| Zfp54 |
T |
A |
17: 21,654,404 (GRCm39) |
Y299* |
probably null |
Het |
| Zfp672 |
T |
C |
11: 58,207,790 (GRCm39) |
H177R |
probably benign |
Het |
| Zfp692 |
C |
A |
11: 58,200,805 (GRCm39) |
P229T |
possibly damaging |
Het |
| Zswim4 |
A |
T |
8: 84,950,829 (GRCm39) |
C533S |
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 |
|
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 |
|
|
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'- AACAGGCTCTTAATTCATGGTGG -3'
(R):5'- CTCTGAACTCAGGGGAAGACAC -3'
Sequencing Primer
(F):5'- GTGGCTTGCACAGTGGACAG -3'
(R):5'- GGAAGACACAGCGCTCTCATG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation