Incidental Mutation 'R7289:Arhgef2'
ID |
566213 |
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 |
045396-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.664)
|
Stock # |
R7289 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
88513273-88555359 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 88543192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 418
(S418L)
|
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 benign
Transcript: ENSMUST00000029694
AA Change: S418L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029694 Gene: ENSMUSG00000028059 AA Change: S418L
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: S391L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103134 Gene: ENSMUSG00000028059 AA Change: S391L
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: S389L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127843 Gene: ENSMUSG00000028059 AA Change: S389L
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: S403L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135177 Gene: ENSMUSG00000028059 AA Change: S403L
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: S401L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135168 Gene: ENSMUSG00000028059 AA Change: S401L
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 benign
Transcript: ENSMUST00000175911
AA Change: S410L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135428 Gene: ENSMUSG00000028059 AA Change: S410L
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: 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: 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: ENSMUST00000176500
AA Change: S403L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134834 Gene: ENSMUSG00000028059 AA Change: S403L
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: ENSMUST00000176539
|
SMART Domains |
Protein: ENSMUSP00000135612 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
|
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: ENSMUST00000176804
AA Change: S416L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135397 Gene: ENSMUSG00000028059 AA Change: S416L
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 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 |
probably benign
Transcript: ENSMUST00000177303
AA Change: S389L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135131 Gene: ENSMUSG00000028059 AA Change: S389L
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: S401L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134840 Gene: ENSMUSG00000028059 AA Change: S401L
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: 99.7%
- 20x: 99.0%
|
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: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
G |
A |
17: 45,818,550 (GRCm39) |
D112N |
probably damaging |
Het |
Abca7 |
T |
A |
10: 79,845,778 (GRCm39) |
I1580K |
probably damaging |
Het |
Aebp1 |
A |
G |
11: 5,815,059 (GRCm39) |
D234G |
probably damaging |
Het |
Agap1 |
T |
A |
1: 89,383,153 (GRCm39) |
M1K |
probably null |
Het |
Agrn |
A |
T |
4: 156,263,389 (GRCm39) |
L345H |
probably damaging |
Het |
Amfr |
A |
G |
8: 94,725,754 (GRCm39) |
M209T |
possibly damaging |
Het |
Angel2 |
G |
A |
1: 190,673,371 (GRCm39) |
R338H |
possibly damaging |
Het |
Ankrd27 |
C |
T |
7: 35,330,674 (GRCm39) |
A866V |
probably damaging |
Het |
Apc |
G |
A |
18: 34,448,324 (GRCm39) |
R1740Q |
probably damaging |
Het |
Arhgap32 |
A |
T |
9: 32,168,233 (GRCm39) |
S739C |
possibly damaging |
Het |
Arhgap32 |
G |
C |
9: 32,168,234 (GRCm39) |
S739T |
probably benign |
Het |
Arhgef25 |
T |
C |
10: 127,019,641 (GRCm39) |
T472A |
possibly damaging |
Het |
Atrnl1 |
C |
T |
19: 57,638,846 (GRCm39) |
S328F |
probably benign |
Het |
Bahcc1 |
C |
T |
11: 120,171,000 (GRCm39) |
A1514V |
probably benign |
Het |
Calcoco2 |
C |
T |
11: 95,990,823 (GRCm39) |
E305K |
unknown |
Het |
Ccn1 |
C |
T |
3: 145,354,428 (GRCm39) |
W161* |
probably null |
Het |
Cdc42bpa |
A |
T |
1: 179,889,362 (GRCm39) |
K203* |
probably null |
Het |
Cmc1 |
A |
T |
9: 117,904,250 (GRCm39) |
I47N |
possibly damaging |
Het |
Cntln |
A |
G |
4: 84,964,540 (GRCm39) |
E656G |
possibly damaging |
Het |
Dcun1d3 |
T |
C |
7: 119,458,864 (GRCm39) |
K57R |
possibly damaging |
Het |
Ddx23 |
T |
C |
15: 98,546,492 (GRCm39) |
E559G |
probably damaging |
Het |
Dennd6a |
G |
A |
14: 26,333,193 (GRCm39) |
R367Q |
probably damaging |
Het |
Desi2 |
A |
T |
1: 178,083,702 (GRCm39) |
|
probably benign |
Het |
Dido1 |
T |
C |
2: 180,301,424 (GRCm39) |
D2160G |
unknown |
Het |
Efcab3 |
T |
C |
11: 104,929,184 (GRCm39) |
M4838T |
probably benign |
Het |
Epb41 |
A |
G |
4: 131,718,520 (GRCm39) |
|
probably null |
Het |
Esrrb |
T |
A |
12: 86,517,331 (GRCm39) |
|
probably null |
Het |
Fabp1 |
C |
A |
6: 71,180,111 (GRCm39) |
T94N |
probably benign |
Het |
Fam120a |
A |
T |
13: 49,045,482 (GRCm39) |
C785S |
probably damaging |
Het |
Fam243 |
T |
C |
16: 92,117,710 (GRCm39) |
I193V |
probably damaging |
Het |
Foxc1 |
A |
G |
13: 31,991,243 (GRCm39) |
Y18C |
probably damaging |
Het |
Fshr |
T |
C |
17: 89,293,272 (GRCm39) |
T469A |
probably benign |
Het |
Gm14399 |
T |
A |
2: 174,972,204 (GRCm39) |
H517L |
unknown |
Het |
Gm39115 |
G |
T |
7: 141,689,297 (GRCm39) |
Q159K |
unknown |
Het |
Gm7347 |
T |
A |
5: 26,262,306 (GRCm39) |
I72F |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,559,466 (GRCm39) |
V2395A |
possibly damaging |
Het |
Ighv5-17 |
T |
G |
12: 113,822,858 (GRCm39) |
T88P |
probably damaging |
Het |
Insm2 |
T |
A |
12: 55,647,329 (GRCm39) |
Y358N |
probably damaging |
Het |
Kazn |
A |
T |
4: 141,844,486 (GRCm39) |
L409Q |
|
Het |
Kcnj5 |
A |
C |
9: 32,234,045 (GRCm39) |
L90R |
probably damaging |
Het |
Kcnv2 |
A |
T |
19: 27,311,084 (GRCm39) |
T484S |
probably damaging |
Het |
Kdm3b |
T |
C |
18: 34,927,557 (GRCm39) |
Y140H |
probably benign |
Het |
Kifbp |
A |
C |
10: 62,401,895 (GRCm39) |
C261W |
probably damaging |
Het |
Krt25 |
C |
T |
11: 99,212,098 (GRCm39) |
A180T |
probably benign |
Het |
Mmp1a |
A |
G |
9: 7,467,294 (GRCm39) |
E290G |
probably damaging |
Het |
Muc21 |
G |
A |
17: 35,929,761 (GRCm39) |
A1475V |
unknown |
Het |
Nr3c1 |
T |
C |
18: 39,547,654 (GRCm39) |
T755A |
probably benign |
Het |
Nr3c1 |
A |
T |
18: 39,555,786 (GRCm39) |
I517N |
probably benign |
Het |
Nxpe2 |
A |
G |
9: 48,234,339 (GRCm39) |
|
probably null |
Het |
Oaz1 |
C |
A |
10: 80,662,673 (GRCm39) |
T27K |
possibly damaging |
Het |
Or4p7 |
A |
T |
2: 88,222,050 (GRCm39) |
H153L |
probably damaging |
Het |
Or51f5 |
T |
C |
7: 102,424,634 (GRCm39) |
I301T |
probably damaging |
Het |
Or5t5 |
G |
T |
2: 86,617,034 (GRCm39) |
C320F |
probably benign |
Het |
Or6z3 |
T |
A |
7: 6,463,777 (GRCm39) |
W90R |
probably benign |
Het |
Or8k21 |
A |
G |
2: 86,145,369 (GRCm39) |
M87T |
probably benign |
Het |
Or8s5 |
A |
G |
15: 98,237,943 (GRCm39) |
V309A |
probably damaging |
Het |
Pafah2 |
A |
T |
4: 134,147,308 (GRCm39) |
K319M |
probably damaging |
Het |
Pask |
A |
T |
1: 93,259,309 (GRCm39) |
V236E |
probably damaging |
Het |
Pcdh1 |
T |
C |
18: 38,322,966 (GRCm39) |
T956A |
probably damaging |
Het |
Pcdhb18 |
C |
A |
18: 37,623,700 (GRCm39) |
N343K |
probably damaging |
Het |
Pcsk2 |
A |
T |
2: 143,532,343 (GRCm39) |
I164F |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,154,289 (GRCm39) |
Y169H |
probably damaging |
Het |
Pkdrej |
T |
A |
15: 85,705,301 (GRCm39) |
I212F |
probably benign |
Het |
Pnkp |
T |
A |
7: 44,508,114 (GRCm39) |
W146R |
probably damaging |
Het |
Prkcb |
A |
T |
7: 122,143,910 (GRCm39) |
I325F |
probably benign |
Het |
Ptpn21 |
C |
T |
12: 98,670,450 (GRCm39) |
D239N |
probably benign |
Het |
Ptprb |
A |
G |
10: 116,164,070 (GRCm39) |
T626A |
probably damaging |
Het |
Pttg1 |
T |
C |
11: 43,311,916 (GRCm39) |
N180D |
probably benign |
Het |
Raly |
G |
A |
2: 154,703,774 (GRCm39) |
R115Q |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,301,114 (GRCm39) |
M474L |
probably benign |
Het |
Sash1 |
A |
T |
10: 8,605,960 (GRCm39) |
I810N |
probably damaging |
Het |
Scnn1g |
T |
A |
7: 121,337,304 (GRCm39) |
L55* |
probably null |
Het |
Sema6b |
A |
T |
17: 56,432,573 (GRCm39) |
D543E |
possibly damaging |
Het |
Serpina11 |
C |
T |
12: 103,952,761 (GRCm39) |
G5E |
unknown |
Het |
Sesn3 |
A |
T |
9: 14,187,848 (GRCm39) |
M1L |
probably benign |
Het |
Sez6 |
T |
A |
11: 77,865,149 (GRCm39) |
I632N |
possibly damaging |
Het |
Sgo2b |
A |
T |
8: 64,394,192 (GRCm39) |
I49N |
probably damaging |
Het |
Slc30a2 |
A |
T |
4: 134,071,524 (GRCm39) |
I86F |
possibly damaging |
Het |
Slc38a6 |
T |
A |
12: 73,333,786 (GRCm39) |
W30R |
probably benign |
Het |
Spata31g1 |
A |
T |
4: 42,972,379 (GRCm39) |
T571S |
probably benign |
Het |
Spata31g1 |
A |
T |
4: 42,973,252 (GRCm39) |
I862F |
possibly damaging |
Het |
Stk31 |
T |
G |
6: 49,415,393 (GRCm39) |
V576G |
probably benign |
Het |
Szt2 |
G |
A |
4: 118,233,075 (GRCm39) |
T2297I |
unknown |
Het |
Tmem208 |
T |
C |
8: 106,061,418 (GRCm39) |
F148S |
possibly damaging |
Het |
Tprg1l |
A |
G |
4: 154,245,031 (GRCm39) |
L19P |
possibly damaging |
Het |
Tubg2 |
C |
A |
11: 101,050,897 (GRCm39) |
N207K |
probably damaging |
Het |
Ube2n |
G |
T |
10: 95,377,612 (GRCm39) |
K130N |
probably benign |
Het |
Usp36 |
T |
C |
11: 118,164,355 (GRCm39) |
Y384C |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,840,852 (GRCm39) |
L1564* |
probably null |
Het |
Xkr6 |
A |
T |
14: 64,035,748 (GRCm39) |
D283V |
unknown |
Het |
Zfp654 |
T |
C |
16: 64,605,523 (GRCm39) |
H352R |
probably benign |
Het |
Zfp819 |
T |
A |
7: 43,266,506 (GRCm39) |
C330S |
probably damaging |
Het |
Zfp970 |
G |
T |
2: 177,167,086 (GRCm39) |
C220F |
probably damaging |
Het |
|
Other mutations in Arhgef2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01913:Arhgef2
|
APN |
3 |
88,539,226 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02165:Arhgef2
|
APN |
3 |
88,553,527 (GRCm39) |
missense |
probably damaging |
1.00 |
monument
|
UTSW |
3 |
88,540,955 (GRCm39) |
critical splice donor site |
probably null |
|
R0090:Arhgef2
|
UTSW |
3 |
88,546,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R0330:Arhgef2
|
UTSW |
3 |
88,549,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R0414:Arhgef2
|
UTSW |
3 |
88,539,575 (GRCm39) |
splice site |
probably benign |
|
R0631:Arhgef2
|
UTSW |
3 |
88,541,743 (GRCm39) |
missense |
probably damaging |
0.99 |
R1635:Arhgef2
|
UTSW |
3 |
88,546,628 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1688:Arhgef2
|
UTSW |
3 |
88,547,607 (GRCm39) |
missense |
probably benign |
0.32 |
R1751:Arhgef2
|
UTSW |
3 |
88,551,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R1767:Arhgef2
|
UTSW |
3 |
88,551,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R1836:Arhgef2
|
UTSW |
3 |
88,546,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R1853:Arhgef2
|
UTSW |
3 |
88,540,222 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1934:Arhgef2
|
UTSW |
3 |
88,537,098 (GRCm39) |
missense |
probably damaging |
0.96 |
R2155:Arhgef2
|
UTSW |
3 |
88,543,351 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- CGGATCACCAAATACCCTGTG -3'
(R):5'- AGGCAGCCTTCATGGATAAG -3'
Sequencing Primer
(F):5'- TGTGCTCATCAACAGAATCCTG -3'
(R):5'- AGGCAGCCTTCATGGATAAGTTTTC -3'
|
Posted On |
2019-06-26 |