Incidental Mutation 'R7934:Arhgef2'
| ID |
648599 |
| 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 |
045980-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R7934 (G1)
|
| Quality Score |
225.009 |
|
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,770 (GRCm39) |
A93V |
probably benign |
Het |
| Abca8b |
G |
A |
11: 109,865,865 (GRCm39) |
T296I |
possibly damaging |
Het |
| Adamtsl1 |
A |
C |
4: 86,161,962 (GRCm39) |
Y365S |
probably damaging |
Het |
| Ambp |
T |
A |
4: 63,067,677 (GRCm39) |
I178F |
probably damaging |
Het |
| Ankle1 |
T |
C |
8: 71,858,899 (GRCm39) |
V44A |
possibly damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,639 (GRCm39) |
I584T |
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,614,492 (GRCm39) |
L1031* |
probably null |
Het |
| Cdh17 |
T |
A |
4: 11,799,754 (GRCm39) |
|
probably null |
Het |
| Cdip1 |
T |
C |
16: 4,586,422 (GRCm39) |
T203A |
probably benign |
Het |
| Ceacam1 |
C |
T |
7: 25,163,220 (GRCm39) |
V338I |
possibly damaging |
Het |
| Cep78 |
G |
A |
19: 15,933,754 (GRCm39) |
T608I |
probably damaging |
Het |
| Ces3a |
T |
A |
8: 105,775,345 (GRCm39) |
|
probably null |
Het |
| Cfap210 |
G |
A |
2: 69,612,450 (GRCm39) |
Q97* |
probably null |
Het |
| Chd7 |
A |
G |
4: 8,854,121 (GRCm39) |
T1898A |
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Creb1 |
G |
A |
1: 64,609,372 (GRCm39) |
A108T |
probably benign |
Het |
| Ctnna3 |
A |
T |
10: 64,421,747 (GRCm39) |
I514F |
probably damaging |
Het |
| Cyp2c55 |
T |
C |
19: 39,030,535 (GRCm39) |
F456L |
probably damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,648,212 (GRCm39) |
S34P |
probably damaging |
Het |
| Cyp2g1 |
A |
T |
7: 26,518,618 (GRCm39) |
T378S |
probably damaging |
Het |
| Eif2b3 |
C |
A |
4: 116,923,675 (GRCm39) |
Q297K |
probably benign |
Het |
| Fbll1 |
T |
C |
11: 35,689,048 (GRCm39) |
N72D |
unknown |
Het |
| Fev |
C |
G |
1: 74,921,632 (GRCm39) |
R106P |
probably damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,405 (GRCm39) |
Y204C |
probably damaging |
Het |
| Gm15130 |
A |
T |
2: 110,964,582 (GRCm39) |
L180Q |
|
Het |
| Greb1l |
A |
T |
18: 10,474,371 (GRCm39) |
K229* |
probably null |
Het |
| Haghl |
G |
T |
17: 26,002,519 (GRCm39) |
T214K |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,308,174 (GRCm39) |
H138R |
probably benign |
Het |
| Ighv1-53 |
G |
T |
12: 115,122,236 (GRCm39) |
Y46* |
probably null |
Het |
| Igsf21 |
T |
C |
4: 139,761,755 (GRCm39) |
T308A |
possibly damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,946,536 (GRCm39) |
S771P |
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,501,402 (GRCm39) |
M897K |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,727 (GRCm39) |
M2345V |
possibly damaging |
Het |
| Mettl2 |
T |
C |
11: 105,019,773 (GRCm39) |
S137P |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,844,725 (GRCm39) |
S189P |
probably benign |
Het |
| Ndrg2 |
T |
C |
14: 52,143,661 (GRCm39) |
Q351R |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,945,032 (GRCm39) |
N65S |
probably damaging |
Het |
| Or1n1 |
A |
G |
2: 36,750,228 (GRCm39) |
I44T |
possibly damaging |
Het |
| Or1p1b |
C |
T |
11: 74,131,326 (GRCm39) |
S312F |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,056,752 (GRCm39) |
W729R |
probably damaging |
Het |
| Oxct2b |
C |
A |
4: 123,010,447 (GRCm39) |
C122* |
probably null |
Het |
| Pdcl3 |
A |
T |
1: 39,026,782 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,616,498 (GRCm39) |
H1294R |
possibly damaging |
Het |
| Pnp2 |
C |
A |
14: 51,201,903 (GRCm39) |
S296R |
probably benign |
Het |
| Ppp1r12c |
G |
A |
7: 4,488,416 (GRCm39) |
Q337* |
probably null |
Het |
| Prr23a4 |
A |
G |
9: 98,785,880 (GRCm39) |
R182G |
possibly damaging |
Het |
| Ranbp2 |
G |
A |
10: 58,312,297 (GRCm39) |
V1006I |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,454,927 (GRCm39) |
D170G |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,548,162 (GRCm39) |
T691A |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,258,518 (GRCm39) |
I307T |
probably damaging |
Het |
| Slc4a8 |
G |
A |
15: 100,685,173 (GRCm39) |
V235I |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,708,450 (GRCm39) |
I750F |
probably damaging |
Het |
| Trim30a |
A |
T |
7: 104,061,448 (GRCm39) |
L282Q |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,478,702 (GRCm39) |
K183R |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,077 (GRCm39) |
L986Q |
probably damaging |
Het |
| Vmn1r257 |
T |
A |
7: 22,391,439 (GRCm39) |
T102S |
possibly damaging |
Het |
| Vps18 |
A |
G |
2: 119,124,122 (GRCm39) |
T350A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
| Zbtb37 |
A |
T |
1: 160,857,305 (GRCm39) |
S312R |
probably damaging |
Het |
| Zeb1 |
A |
G |
18: 5,748,703 (GRCm39) |
N90S |
probably benign |
Het |
| Zfp715 |
A |
T |
7: 42,949,308 (GRCm39) |
Y217* |
probably null |
Het |
| Zfp9 |
T |
C |
6: 118,441,847 (GRCm39) |
T272A |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,212,361 (GRCm39) |
H482Q |
probably damaging |
Het |
| Zfp971 |
A |
T |
2: 177,675,173 (GRCm39) |
K257N |
probably benign |
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 |
|
|
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 |
|
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'- TGCTGTTTATCTGGACGCC -3'
(R):5'- AATAGCCACCACCCAGTGTG -3'
Sequencing Primer
(F):5'- CAGGTACCTGACTGAGTGTCTTC -3'
(R):5'- CCAGTGTGGGCAAGGGTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation