Incidental Mutation 'R7402:Arhgef2'
ID |
574244 |
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 |
045484-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.664)
|
Stock # |
R7402 (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 88540873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 216
(D216G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029694]
[ENSMUST00000107510]
[ENSMUST00000170653]
[ENSMUST00000175745]
[ENSMUST00000175779]
[ENSMUST00000175903]
[ENSMUST00000175911]
[ENSMUST00000176243]
[ENSMUST00000176307]
[ENSMUST00000176316]
[ENSMUST00000176500]
[ENSMUST00000176539]
[ENSMUST00000176804]
[ENSMUST00000176879]
[ENSMUST00000177023]
[ENSMUST00000177303]
[ENSMUST00000177498]
|
AlphaFold |
Q60875 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029694
AA Change: D216G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029694 Gene: ENSMUSG00000028059 AA Change: D216G
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: D189G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103134 Gene: ENSMUSG00000028059 AA Change: D189G
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: D187G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127843 Gene: ENSMUSG00000028059 AA Change: D187G
Domain | Start | End | E-Value | Type |
C1
|
13 |
59 |
4.22e-9 |
SMART |
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
RhoGEF
|
211 |
403 |
1.86e-58 |
SMART |
PH
|
445 |
545 |
9.56e-11 |
SMART |
coiled coil region
|
559 |
590 |
N/A |
INTRINSIC |
low complexity region
|
783 |
798 |
N/A |
INTRINSIC |
coiled coil region
|
800 |
837 |
N/A |
INTRINSIC |
low complexity region
|
843 |
859 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175745
|
SMART Domains |
Protein: ENSMUSP00000135044 Gene: ENSMUSG00000028059
Domain | Start | End | E-Value | Type |
C1
|
13 |
59 |
4.22e-9 |
SMART |
low complexity region
|
63 |
68 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000175779
AA Change: D201G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135177 Gene: ENSMUSG00000028059 AA Change: D201G
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: D199G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135168 Gene: ENSMUSG00000028059 AA Change: D199G
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: D208G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135428 Gene: ENSMUSG00000028059 AA Change: D208G
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: ENSMUST00000176243
AA Change: D187G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135771 Gene: ENSMUSG00000028059 AA Change: D187G
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: 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 damaging
Transcript: ENSMUST00000176500
AA Change: D201G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134834 Gene: ENSMUSG00000028059 AA Change: D201G
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: ENSMUST00000176539
AA Change: D201G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135612 Gene: ENSMUSG00000028059 AA Change: D201G
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: D214G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135397 Gene: ENSMUSG00000028059 AA Change: D214G
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: 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 damaging
Transcript: ENSMUST00000177023
AA Change: D199G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134859 Gene: ENSMUSG00000028059 AA Change: D199G
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: ENSMUST00000177303
AA Change: D187G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135131 Gene: ENSMUSG00000028059 AA Change: D187G
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: D199G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134840 Gene: ENSMUSG00000028059 AA Change: D199G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 98 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
G |
T |
14: 118,943,487 (GRCm39) |
P12Q |
probably damaging |
Het |
Acsf3 |
A |
G |
8: 123,507,163 (GRCm39) |
Y152C |
probably damaging |
Het |
Adam22 |
T |
A |
5: 8,145,049 (GRCm39) |
Q803L |
possibly damaging |
Het |
Adamtsl3 |
G |
A |
7: 82,227,825 (GRCm39) |
V1337I |
probably damaging |
Het |
Adra1b |
T |
C |
11: 43,666,845 (GRCm39) |
D464G |
possibly damaging |
Het |
Alpk3 |
T |
A |
7: 80,726,660 (GRCm39) |
I115K |
probably benign |
Het |
Amdhd2 |
A |
G |
17: 24,380,657 (GRCm39) |
S96P |
|
Het |
Ankib1 |
T |
G |
5: 3,819,586 (GRCm39) |
D111A |
probably benign |
Het |
Astn1 |
A |
T |
1: 158,380,425 (GRCm39) |
|
probably benign |
Het |
Atosa |
C |
A |
9: 74,913,668 (GRCm39) |
Y107* |
probably null |
Het |
Atrn |
T |
A |
2: 130,789,520 (GRCm39) |
W328R |
probably damaging |
Het |
Atxn7 |
A |
T |
14: 14,095,427 (GRCm38) |
H375L |
probably damaging |
Het |
Btaf1 |
A |
T |
19: 36,980,915 (GRCm39) |
N1579Y |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,497,671 (GRCm39) |
L2079Q |
probably benign |
Het |
Ccdc102a |
T |
C |
8: 95,629,981 (GRCm39) |
K520R |
probably damaging |
Het |
Cd2ap |
T |
C |
17: 43,116,054 (GRCm39) |
H602R |
possibly damaging |
Het |
Cdkn2aip |
A |
G |
8: 48,164,408 (GRCm39) |
V435A |
possibly damaging |
Het |
Cenpf |
A |
T |
1: 189,391,575 (GRCm39) |
Y735* |
probably null |
Het |
Cep350 |
T |
A |
1: 155,803,961 (GRCm39) |
I1041L |
probably benign |
Het |
Ckap4 |
A |
G |
10: 84,363,863 (GRCm39) |
V400A |
probably damaging |
Het |
Comp |
T |
A |
8: 70,829,854 (GRCm39) |
D359E |
probably benign |
Het |
Coq10b |
A |
C |
1: 55,100,500 (GRCm39) |
K61N |
probably benign |
Het |
Csmd2 |
G |
A |
4: 128,215,889 (GRCm39) |
S548N |
|
Het |
Csmd2 |
A |
C |
4: 128,215,888 (GRCm39) |
S548R |
|
Het |
Ctif |
A |
G |
18: 75,744,807 (GRCm39) |
I99T |
probably benign |
Het |
Ctns |
T |
G |
11: 73,083,903 (GRCm39) |
T40P |
possibly damaging |
Het |
Cyp11b1 |
C |
T |
15: 74,712,674 (GRCm39) |
R129H |
probably damaging |
Het |
Cyp2c68 |
A |
T |
19: 39,729,318 (GRCm39) |
N56K |
probably benign |
Het |
D6Wsu163e |
A |
G |
6: 126,938,968 (GRCm39) |
K401R |
probably damaging |
Het |
Dstn |
T |
A |
2: 143,780,368 (GRCm39) |
C23S |
probably benign |
Het |
Fam72a |
A |
T |
1: 131,466,613 (GRCm39) |
E132D |
probably damaging |
Het |
Fam72a |
G |
T |
1: 131,466,614 (GRCm39) |
E133* |
probably null |
Het |
Gbp8 |
T |
A |
5: 105,179,161 (GRCm39) |
I113F |
probably damaging |
Het |
Gm3095 |
A |
T |
14: 15,170,332 (GRCm39) |
R60S |
possibly damaging |
Het |
Gpa33 |
A |
T |
1: 165,980,263 (GRCm39) |
M109L |
probably damaging |
Het |
Grik2 |
A |
G |
10: 49,411,493 (GRCm39) |
L215P |
probably damaging |
Het |
Gucy2g |
A |
C |
19: 55,194,725 (GRCm39) |
F897L |
probably damaging |
Het |
Hinfp |
A |
G |
9: 44,209,314 (GRCm39) |
L295P |
probably damaging |
Het |
Ift122 |
T |
C |
6: 115,871,283 (GRCm39) |
V526A |
probably benign |
Het |
Ighv5-12 |
T |
C |
12: 113,665,853 (GRCm39) |
T82A |
probably benign |
Het |
Il18rap |
T |
A |
1: 40,564,111 (GRCm39) |
S76R |
probably benign |
Het |
Itga6 |
A |
T |
2: 71,683,897 (GRCm39) |
N1045I |
probably benign |
Het |
Kctd21 |
A |
T |
7: 96,996,970 (GRCm39) |
I148F |
possibly damaging |
Het |
Kif28 |
T |
A |
1: 179,567,644 (GRCm39) |
H42L |
probably benign |
Het |
Kmt2c |
A |
C |
5: 25,600,418 (GRCm39) |
C326W |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,925,707 (GRCm39) |
L1912* |
probably null |
Het |
Lrfn1 |
A |
T |
7: 28,158,947 (GRCm39) |
I289F |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,057,185 (GRCm39) |
K205R |
possibly damaging |
Het |
Mbd5 |
A |
T |
2: 49,147,566 (GRCm39) |
N592I |
probably damaging |
Het |
Mbl2 |
A |
G |
19: 30,216,802 (GRCm39) |
N205D |
possibly damaging |
Het |
Mcm4 |
C |
A |
16: 15,455,042 (GRCm39) |
M1I |
probably null |
Het |
Mgat4a |
T |
A |
1: 37,493,865 (GRCm39) |
H327L |
probably damaging |
Het |
Miox |
A |
G |
15: 89,219,206 (GRCm39) |
D16G |
probably benign |
Het |
Mvk |
C |
A |
5: 114,594,039 (GRCm39) |
P298Q |
possibly damaging |
Het |
Nol6 |
A |
G |
4: 41,118,699 (GRCm39) |
L726P |
probably damaging |
Het |
Nos1 |
T |
C |
5: 118,087,880 (GRCm39) |
I1381T |
probably benign |
Het |
Nup98 |
A |
T |
7: 101,784,144 (GRCm39) |
S1063T |
probably benign |
Het |
Obscn |
T |
G |
11: 58,886,275 (GRCm39) |
M7862L |
unknown |
Het |
Obsl1 |
T |
C |
1: 75,464,348 (GRCm39) |
T1653A |
probably benign |
Het |
Odr4 |
A |
G |
1: 150,262,107 (GRCm39) |
|
probably null |
Het |
Or4c105 |
G |
T |
2: 88,647,687 (GRCm39) |
M57I |
probably damaging |
Het |
Or8g53 |
T |
A |
9: 39,683,260 (GRCm39) |
T279S |
probably benign |
Het |
Or8u9 |
A |
G |
2: 86,001,546 (GRCm39) |
I205T |
probably benign |
Het |
Or9q2 |
C |
T |
19: 13,772,358 (GRCm39) |
V206I |
probably damaging |
Het |
Pcdhb20 |
A |
G |
18: 37,638,005 (GRCm39) |
Y177C |
probably benign |
Het |
Pcdhb3 |
A |
C |
18: 37,434,657 (GRCm39) |
I208L |
probably benign |
Het |
Phlpp1 |
G |
T |
1: 106,317,420 (GRCm39) |
G1214W |
probably damaging |
Het |
Ppp4r3a |
A |
T |
12: 101,025,053 (GRCm39) |
S149T |
possibly damaging |
Het |
Pxdn |
T |
C |
12: 30,052,438 (GRCm39) |
C872R |
probably damaging |
Het |
Rarb |
A |
G |
14: 16,548,419 (GRCm38) |
C101R |
probably damaging |
Het |
Rcor3 |
A |
C |
1: 191,812,283 (GRCm39) |
V114G |
probably benign |
Het |
Rnpepl1 |
A |
G |
1: 92,847,372 (GRCm39) |
Q653R |
probably benign |
Het |
Rpap2 |
T |
A |
5: 107,768,324 (GRCm39) |
Y387* |
probably null |
Het |
Rttn |
C |
T |
18: 89,004,035 (GRCm39) |
T343M |
possibly damaging |
Het |
Samd11 |
T |
C |
4: 156,333,230 (GRCm39) |
T333A |
probably benign |
Het |
Six5 |
T |
C |
7: 18,828,968 (GRCm39) |
L136P |
probably damaging |
Het |
Slc12a5 |
T |
A |
2: 164,824,852 (GRCm39) |
M419K |
probably benign |
Het |
Slc22a21 |
T |
C |
11: 53,851,226 (GRCm39) |
M179V |
probably benign |
Het |
Slc35a4 |
A |
G |
18: 36,813,570 (GRCm39) |
D6G |
unknown |
Het |
Spdye4c |
A |
T |
2: 128,434,261 (GRCm39) |
M1L |
probably benign |
Het |
Svep1 |
A |
T |
4: 58,069,699 (GRCm39) |
C2696S |
possibly damaging |
Het |
Tceanc2 |
T |
C |
4: 107,004,893 (GRCm39) |
N85S |
probably benign |
Het |
Teddm2 |
G |
C |
1: 153,726,344 (GRCm39) |
L124V |
probably benign |
Het |
Teddm2 |
A |
T |
1: 153,726,343 (GRCm39) |
L124Q |
probably damaging |
Het |
Tgfbr1 |
T |
A |
4: 47,405,623 (GRCm39) |
W409R |
probably damaging |
Het |
Tkt |
A |
G |
14: 30,280,755 (GRCm39) |
D62G |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,768,501 (GRCm39) |
V1054D |
probably damaging |
Het |
Trpm7 |
C |
A |
2: 126,641,126 (GRCm39) |
L1564F |
probably damaging |
Het |
Vmn1r43 |
A |
T |
6: 89,846,803 (GRCm39) |
C228S |
probably benign |
Het |
Vmn2r106 |
T |
C |
17: 20,487,883 (GRCm39) |
R839G |
probably damaging |
Het |
Vmn2r5 |
G |
A |
3: 64,403,176 (GRCm39) |
T523I |
probably benign |
Het |
Vwa3b |
C |
T |
1: 37,153,678 (GRCm39) |
Q507* |
probably null |
Het |
Wrn |
C |
G |
8: 33,738,994 (GRCm39) |
W1278S |
probably benign |
Het |
Zfp281 |
T |
G |
1: 136,553,190 (GRCm39) |
L56R |
probably damaging |
Het |
Zfp407 |
G |
A |
18: 84,579,661 (GRCm39) |
T484I |
probably benign |
Het |
Zfp451 |
T |
C |
1: 33,852,843 (GRCm39) |
T24A |
probably benign |
Het |
Zfp607b |
T |
A |
7: 27,392,919 (GRCm39) |
F16I |
probably damaging |
Het |
Zfp638 |
T |
A |
6: 83,905,670 (GRCm39) |
V41E |
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 |
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 |
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'- GAGAATCGTGTTGGCAAGAC -3'
(R):5'- AACAAGTTGGTACTAGCTGGG -3'
Sequencing Primer
(F):5'- CGGTGGTGTGAGAAGCC -3'
(R):5'- AAGTTGGTACTAGCTGGGGACATG -3'
|
Posted On |
2019-09-13 |