Incidental Mutation 'R5560:Arhgef2'
| ID |
436501 |
| 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 |
043117-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R5560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88513273-88555359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88541744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 250
(V250E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029694]
[ENSMUST00000107510]
[ENSMUST00000170653]
[ENSMUST00000175745]
[ENSMUST00000175779]
[ENSMUST00000175903]
[ENSMUST00000175911]
[ENSMUST00000176500]
[ENSMUST00000176539]
[ENSMUST00000176804]
[ENSMUST00000176307]
[ENSMUST00000176316]
[ENSMUST00000176243]
[ENSMUST00000176879]
[ENSMUST00000177023]
[ENSMUST00000177303]
[ENSMUST00000177498]
|
| AlphaFold |
Q60875 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029694
AA Change: V252E
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: V252E
| 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 |
possibly damaging
Transcript: ENSMUST00000107510
AA Change: V225E
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: V225E
| 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 |
possibly damaging
Transcript: ENSMUST00000170653
AA Change: V223E
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: V223E
| 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 |
possibly damaging
Transcript: ENSMUST00000175779
AA Change: V237E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: V237E
| 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 |
possibly damaging
Transcript: ENSMUST00000175903
AA Change: V235E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: V235E
| 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: V244E
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: V244E
| 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 |
noncoding transcript
Transcript: ENSMUST00000176301
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176500
AA Change: V237E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: V237E
| 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 |
possibly damaging
Transcript: ENSMUST00000176539
AA Change: V237E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135612
Gene: ENSMUSG00000028059
AA Change: V237E
| 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: ENSMUST00000176804
AA Change: V250E
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: V250E
| 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: ENSMUST00000176123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176400
|
| 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: 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 |
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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000177091
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177303
AA Change: V223E
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: V223E
| 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 |
possibly damaging
Transcript: ENSMUST00000177498
AA Change: V235E
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: V235E
| 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: ENSMUST00000177120
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adipor1 |
T |
C |
1: 134,353,778 (GRCm39) |
W188R |
possibly damaging |
Het |
| Agrn |
T |
C |
4: 156,262,954 (GRCm39) |
D441G |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,520,024 (GRCm39) |
S570P |
probably benign |
Het |
| Ano9 |
C |
G |
7: 140,690,395 (GRCm39) |
G80R |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,751,319 (GRCm39) |
D583G |
possibly damaging |
Het |
| Bcar3 |
T |
A |
3: 122,220,224 (GRCm39) |
D40E |
possibly damaging |
Het |
| Capn12 |
A |
G |
7: 28,582,285 (GRCm39) |
D133G |
probably benign |
Het |
| Ccna1 |
A |
T |
3: 54,955,990 (GRCm39) |
Y269N |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,632,239 (GRCm39) |
Y250N |
probably damaging |
Het |
| Cep112 |
A |
C |
11: 108,328,061 (GRCm39) |
K98Q |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,295,251 (GRCm39) |
D54G |
probably damaging |
Het |
| Clstn2 |
G |
T |
9: 97,351,872 (GRCm39) |
H518N |
possibly damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,073,261 (GRCm39) |
L581M |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,966,833 (GRCm39) |
M446L |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,068,871 (GRCm39) |
I756K |
probably damaging |
Het |
| Dennd3 |
T |
G |
15: 73,404,744 (GRCm39) |
L273R |
probably damaging |
Het |
| Dhx34 |
C |
A |
7: 15,952,466 (GRCm39) |
R53L |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,772,566 (GRCm39) |
T3722I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dusp6 |
A |
G |
10: 99,102,103 (GRCm39) |
Y217C |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,181,733 (GRCm39) |
S769G |
probably damaging |
Het |
| Dyrk1b |
G |
A |
7: 27,883,678 (GRCm39) |
R178Q |
possibly damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,505,645 (GRCm39) |
C1009S |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,243,697 (GRCm39) |
T57S |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,807,289 (GRCm39) |
F478L |
possibly damaging |
Het |
| Gjc2 |
A |
G |
11: 59,068,185 (GRCm39) |
V99A |
possibly damaging |
Het |
| Gm9955 |
A |
T |
18: 24,842,149 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,831,101 (GRCm39) |
I734V |
possibly damaging |
Het |
| H1f2 |
A |
G |
13: 23,923,390 (GRCm39) |
S187G |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,358,401 (GRCm39) |
H2494L |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hmgcs1 |
A |
G |
13: 120,161,351 (GRCm39) |
|
probably null |
Het |
| Invs |
A |
T |
4: 48,416,084 (GRCm39) |
T655S |
probably benign |
Het |
| Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
| Katnip |
T |
C |
7: 125,453,733 (GRCm39) |
V1150A |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,633,824 (GRCm39) |
L96M |
probably benign |
Het |
| Lfng |
A |
G |
5: 140,600,022 (GRCm39) |
D354G |
possibly damaging |
Het |
| Lgsn |
T |
C |
1: 31,235,953 (GRCm39) |
L139P |
probably damaging |
Het |
| Madd |
C |
A |
2: 90,993,890 (GRCm39) |
V923L |
probably damaging |
Het |
| Mical1 |
A |
T |
10: 41,354,961 (GRCm39) |
I157F |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,199,590 (GRCm39) |
N154S |
possibly damaging |
Het |
| Mrps14 |
A |
G |
1: 160,023,105 (GRCm39) |
K6R |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,838,032 (GRCm39) |
C421S |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 113,016,161 (GRCm39) |
I696T |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 67,336,197 (GRCm39) |
Y375H |
probably damaging |
Het |
| Nsf |
T |
A |
11: 103,754,081 (GRCm39) |
E485V |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,199,897 (GRCm39) |
D307G |
probably damaging |
Het |
| Ocel1 |
C |
A |
8: 71,825,122 (GRCm39) |
P108T |
probably damaging |
Het |
| Oip5 |
A |
G |
2: 119,443,540 (GRCm39) |
S177P |
probably damaging |
Het |
| Omg |
A |
G |
11: 79,392,584 (GRCm39) |
W425R |
possibly damaging |
Het |
| Or1ad8 |
A |
C |
11: 50,898,350 (GRCm39) |
I184L |
possibly damaging |
Het |
| Or1l4 |
A |
G |
2: 37,091,942 (GRCm39) |
I230V |
probably benign |
Het |
| Or5an10 |
G |
A |
19: 12,276,008 (GRCm39) |
Q163* |
probably null |
Het |
| Or8g26 |
A |
C |
9: 39,095,480 (GRCm39) |
E2A |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,292,566 (GRCm39) |
Y1339C |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,522,172 (GRCm39) |
D6G |
possibly damaging |
Het |
| Pou4f3 |
C |
A |
18: 42,528,480 (GRCm39) |
P141Q |
probably benign |
Het |
| Rcsd1 |
T |
A |
1: 165,483,070 (GRCm39) |
N337I |
possibly damaging |
Het |
| Rhoj |
C |
T |
12: 75,438,486 (GRCm39) |
P91S |
probably damaging |
Het |
| Rnf10 |
A |
G |
5: 115,388,057 (GRCm39) |
F367S |
probably damaging |
Het |
| Rnft1 |
A |
T |
11: 86,384,022 (GRCm39) |
R307S |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,585,222 (GRCm39) |
F2788Y |
probably damaging |
Het |
| Scgb1c1 |
A |
G |
7: 140,426,137 (GRCm39) |
K78E |
possibly damaging |
Het |
| Scn5a |
G |
T |
9: 119,389,352 (GRCm39) |
A123E |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,378,907 (GRCm39) |
Y623* |
probably null |
Het |
| Slc49a3 |
A |
T |
5: 108,596,729 (GRCm39) |
M1K |
probably null |
Het |
| Spmap2l |
A |
G |
5: 77,164,333 (GRCm39) |
D112G |
possibly damaging |
Het |
| Tbl2 |
C |
T |
5: 135,186,445 (GRCm39) |
Q216* |
probably null |
Het |
| Tnc |
A |
G |
4: 63,926,946 (GRCm39) |
I860T |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,511,366 (GRCm39) |
K484R |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,219,635 (GRCm39) |
V2124A |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,959,756 (GRCm39) |
W713R |
probably damaging |
Het |
| Uap1l1 |
T |
C |
2: 25,252,688 (GRCm39) |
T451A |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,279,119 (GRCm39) |
C668S |
probably damaging |
Het |
| Ubxn11 |
T |
C |
4: 133,853,935 (GRCm39) |
F441S |
probably damaging |
Het |
| Vmn1r22 |
C |
T |
6: 57,877,723 (GRCm39) |
V85M |
probably damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,150 (GRCm39) |
I90L |
probably damaging |
Het |
| Zfp330 |
T |
C |
8: 83,491,585 (GRCm39) |
E196G |
probably benign |
Het |
| Zfp746 |
A |
G |
6: 48,059,108 (GRCm39) |
V167A |
possibly damaging |
Het |
| Zfp994 |
T |
C |
17: 22,420,694 (GRCm39) |
E85G |
possibly 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 |
|
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'- CTTGCCCTGAAAGAGTGTACTG -3'
(R):5'- GACTGATGAGCAAGTCACCC -3'
Sequencing Primer
(F):5'- CCTGAAAGAGTGTACTGCTTGAAATG -3'
(R):5'- TGACAAAGTTCCGGGTGC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation