Incidental Mutation 'R0090:Arhgef2'
| ID |
20119 |
| 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 |
038377-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R0090 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
88513273-88555359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88546655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 496
(Q496L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029694]
[ENSMUST00000107510]
[ENSMUST00000170653]
[ENSMUST00000175779]
[ENSMUST00000175903]
[ENSMUST00000175911]
[ENSMUST00000177303]
[ENSMUST00000176500]
[ENSMUST00000176804]
[ENSMUST00000177498]
[ENSMUST00000176539]
|
| AlphaFold |
Q60875 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029694
AA Change: Q525L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: Q525L
| 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: Q498L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: Q498L
| 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: Q496L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: Q496L
| 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: ENSMUST00000175779
AA Change: Q510L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: Q510L
| 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: Q508L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: Q508L
| 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: Q517L
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: Q517L
| 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: ENSMUST00000176272
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177303
AA Change: Q496L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: Q496L
| 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: ENSMUST00000176500
AA Change: Q510L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: Q510L
| 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: ENSMUST00000176804
AA Change: Q523L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: Q523L
| 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: ENSMUST00000177498
AA Change: Q508L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: Q508L
| 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: ENSMUST00000177091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176401
|
| 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 |
|
| Meta Mutation Damage Score |
0.6879 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.7%
- 20x: 91.4%
|
| Validation Efficiency |
99% (90/91) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4933427I04Rik |
A |
G |
4: 123,754,775 (GRCm39) |
T230A |
possibly damaging |
Het |
| Acsm1 |
T |
C |
7: 119,261,412 (GRCm39) |
|
probably benign |
Het |
| Acta1 |
T |
C |
8: 124,620,396 (GRCm39) |
N14S |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,283,609 (GRCm39) |
T362A |
probably benign |
Het |
| Aggf1 |
A |
G |
13: 95,501,467 (GRCm39) |
I305T |
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,727,745 (GRCm39) |
D325G |
possibly damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,906,905 (GRCm39) |
T1055I |
possibly damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,211,618 (GRCm39) |
F122L |
probably damaging |
Het |
| Baiap3 |
G |
A |
17: 25,469,044 (GRCm39) |
|
probably benign |
Het |
| Casp8ap2 |
T |
A |
4: 32,640,327 (GRCm39) |
H460Q |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,017,868 (GRCm39) |
T386A |
probably benign |
Het |
| Cd53 |
A |
T |
3: 106,674,725 (GRCm39) |
V114E |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,300,643 (GRCm39) |
|
probably benign |
Het |
| Cfap300 |
T |
A |
9: 8,027,184 (GRCm39) |
N118I |
probably benign |
Het |
| Chaf1b |
G |
T |
16: 93,684,012 (GRCm39) |
A88S |
possibly damaging |
Het |
| Cldn10 |
A |
T |
14: 119,111,612 (GRCm39) |
Y194F |
probably damaging |
Het |
| Clec2e |
A |
C |
6: 129,072,181 (GRCm39) |
|
probably null |
Het |
| Cmpk2 |
A |
T |
12: 26,528,021 (GRCm39) |
T413S |
probably benign |
Het |
| Col9a1 |
T |
A |
1: 24,262,643 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,405,139 (GRCm39) |
Q2468K |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,395,327 (GRCm39) |
D88G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,003,064 (GRCm39) |
R3588G |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,169,625 (GRCm39) |
T774A |
probably benign |
Het |
| Ect2 |
C |
T |
3: 27,192,651 (GRCm39) |
E431K |
probably null |
Het |
| Ern1 |
A |
G |
11: 106,296,649 (GRCm39) |
V767A |
probably damaging |
Het |
| Fbln1 |
A |
C |
15: 85,108,489 (GRCm39) |
E75A |
possibly damaging |
Het |
| Fgf5 |
C |
T |
5: 98,409,846 (GRCm39) |
R132* |
probably null |
Het |
| Folh1 |
T |
C |
7: 86,375,076 (GRCm39) |
|
probably benign |
Het |
| Gdf15 |
A |
T |
8: 71,082,334 (GRCm39) |
H257Q |
probably damaging |
Het |
| Ghitm |
T |
C |
14: 36,844,176 (GRCm39) |
T322A |
probably benign |
Het |
| Gm5709 |
A |
G |
3: 59,526,192 (GRCm39) |
|
noncoding transcript |
Het |
| Hbb-y |
C |
T |
7: 103,501,950 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
T |
2: 31,316,210 (GRCm39) |
D3771V |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,787,941 (GRCm39) |
D627G |
probably benign |
Het |
| Idh2 |
T |
C |
7: 79,747,662 (GRCm39) |
E286G |
probably damaging |
Het |
| Idh3b |
C |
A |
2: 130,122,899 (GRCm39) |
A297S |
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,342,968 (GRCm39) |
E535G |
probably damaging |
Het |
| Ilf3 |
T |
A |
9: 21,306,710 (GRCm39) |
D314E |
probably damaging |
Het |
| Itgb8 |
A |
G |
12: 119,166,298 (GRCm39) |
S78P |
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,169,495 (GRCm39) |
V31I |
probably benign |
Het |
| Kcnj2 |
T |
C |
11: 110,963,853 (GRCm39) |
V415A |
probably benign |
Het |
| Kin |
A |
G |
2: 10,090,584 (GRCm39) |
Q53R |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,856,272 (GRCm39) |
M513K |
probably benign |
Het |
| Krtap4-8 |
A |
T |
11: 99,671,312 (GRCm39) |
|
probably benign |
Het |
| Ltbr |
T |
C |
6: 125,286,412 (GRCm39) |
|
probably benign |
Het |
| Mgat4a |
G |
A |
1: 37,529,414 (GRCm39) |
T146I |
probably damaging |
Het |
| Mrps2 |
G |
C |
2: 28,358,268 (GRCm39) |
W19C |
probably damaging |
Het |
| Mthfs |
T |
C |
9: 89,093,344 (GRCm39) |
S33P |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,196,161 (GRCm39) |
D546G |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Ndst2 |
T |
C |
14: 20,777,335 (GRCm39) |
T553A |
probably damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,288,664 (GRCm39) |
E616G |
probably damaging |
Het |
| Nrde2 |
T |
C |
12: 100,095,545 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,119,086 (GRCm39) |
V1832I |
probably benign |
Het |
| Or1e1c |
G |
A |
11: 73,266,402 (GRCm39) |
V276I |
probably benign |
Het |
| Or4k77 |
A |
T |
2: 111,199,639 (GRCm39) |
I221F |
probably damaging |
Het |
| Pcm1 |
A |
T |
8: 41,709,078 (GRCm39) |
E9D |
probably damaging |
Het |
| Pear1 |
A |
T |
3: 87,661,649 (GRCm39) |
D541E |
possibly damaging |
Het |
| Peg10 |
A |
G |
6: 4,756,063 (GRCm39) |
|
probably benign |
Het |
| Prss1 |
G |
A |
6: 41,438,166 (GRCm39) |
R31Q |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,717,369 (GRCm39) |
V1837A |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,805,456 (GRCm39) |
D149G |
probably damaging |
Het |
| Reg3d |
A |
T |
6: 78,355,466 (GRCm39) |
H8Q |
possibly damaging |
Het |
| Rhox4f |
A |
C |
X: 36,789,122 (GRCm39) |
V15G |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,442,889 (GRCm39) |
L1645H |
probably damaging |
Het |
| Slc16a5 |
A |
T |
11: 115,355,751 (GRCm39) |
S71C |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,306,847 (GRCm39) |
E324G |
probably damaging |
Het |
| Smgc |
T |
C |
15: 91,743,960 (GRCm39) |
V574A |
possibly damaging |
Het |
| Stac3 |
C |
T |
10: 127,339,799 (GRCm39) |
|
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,265,485 (GRCm39) |
L685P |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tas2r125 |
G |
T |
6: 132,887,361 (GRCm39) |
A250S |
probably benign |
Het |
| Tdrd6 |
C |
T |
17: 43,939,132 (GRCm39) |
V639I |
probably benign |
Het |
| Thap12 |
T |
G |
7: 98,365,100 (GRCm39) |
W423G |
probably damaging |
Het |
| Tmem245 |
T |
C |
4: 56,899,410 (GRCm39) |
I217V |
probably benign |
Het |
| Trip12 |
T |
A |
1: 84,709,857 (GRCm39) |
|
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,468,317 (GRCm39) |
V102A |
probably benign |
Het |
| Ubap1 |
T |
C |
4: 41,379,826 (GRCm39) |
S347P |
probably damaging |
Het |
| Usp10 |
C |
T |
8: 120,679,935 (GRCm39) |
Q612* |
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,404,084 (GRCm39) |
I36V |
probably benign |
Het |
| Vps37a |
T |
C |
8: 40,980,030 (GRCm39) |
I63T |
possibly damaging |
Het |
| Whrn |
C |
A |
4: 63,350,969 (GRCm39) |
R9L |
possibly damaging |
Het |
| Xrcc1 |
T |
C |
7: 24,269,642 (GRCm39) |
Y401H |
probably damaging |
Het |
| Ylpm1 |
GCCTAAGCAGCAACCTAAG |
GCCTAAG |
12: 85,075,814 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
G |
A |
8: 109,676,689 (GRCm39) |
D2580N |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,308,685 (GRCm39) |
N637S |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,349,195 (GRCm39) |
K211* |
probably null |
Het |
| Zyg11a |
A |
T |
4: 108,058,544 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GAGAGACTGTGCATCGAGGGACTC -3'
(R):5'- TCCCAGGAAATATGCCGACTAGGAC -3'
Sequencing Primer
(F):5'- TCTAGGACGGAAAACCCAGA -3'
(R):5'- TATGCCGACTAGGACCTGAAG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation