Incidental Mutation 'R5910:Arhgef2'
| ID |
460901 |
| 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 |
044107-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.664)
|
| Stock # |
R5910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88513273-88555359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88542327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 310
(Y310C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029694]
[ENSMUST00000107510]
[ENSMUST00000170653]
[ENSMUST00000175745]
[ENSMUST00000175779]
[ENSMUST00000175903]
[ENSMUST00000175911]
[ENSMUST00000176500]
[ENSMUST00000176804]
[ENSMUST00000176539]
[ENSMUST00000176879]
[ENSMUST00000177023]
[ENSMUST00000176307]
[ENSMUST00000176243]
[ENSMUST00000176316]
[ENSMUST00000177303]
[ENSMUST00000177498]
|
| AlphaFold |
Q60875 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029694
AA Change: Y339C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029694
Gene: ENSMUSG00000028059
AA Change: Y339C
| 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: Y312C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103134
Gene: ENSMUSG00000028059
AA Change: Y312C
| 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: Y310C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127843
Gene: ENSMUSG00000028059
AA Change: Y310C
| 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: Y324C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135177
Gene: ENSMUSG00000028059
AA Change: Y324C
| 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: Y322C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135168
Gene: ENSMUSG00000028059
AA Change: Y322C
| 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: Y331C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135428
Gene: ENSMUSG00000028059
AA Change: Y331C
| 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 |
probably damaging
Transcript: ENSMUST00000176500
AA Change: Y324C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134834
Gene: ENSMUSG00000028059
AA Change: Y324C
| 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: Y337C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135397
Gene: ENSMUSG00000028059
AA Change: Y337C
| 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: ENSMUST00000176401
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176528
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176079
|
| 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: 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000177091
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177303
AA Change: Y310C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135131
Gene: ENSMUSG00000028059
AA Change: Y310C
| 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: Y322C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134840
Gene: ENSMUSG00000028059
AA Change: Y322C
| 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
|
| Meta Mutation Damage Score |
0.9685 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
95% (93/98) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,645,076 (GRCm39) |
N976D |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,037 (GRCm39) |
R188W |
probably benign |
Het |
| Adcy4 |
A |
T |
14: 56,016,470 (GRCm39) |
V327D |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,039,493 (GRCm39) |
I408T |
possibly damaging |
Het |
| Ankib1 |
T |
C |
5: 3,743,217 (GRCm39) |
S933G |
probably benign |
Het |
| Ap2a2 |
A |
G |
7: 141,178,691 (GRCm39) |
D106G |
probably damaging |
Het |
| Arhgap22 |
A |
T |
14: 33,088,572 (GRCm39) |
H351L |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,359,380 (GRCm39) |
S2804R |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,807,770 (GRCm39) |
L163P |
possibly damaging |
Het |
| Bcl2l12 |
C |
T |
7: 44,645,967 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
A |
G |
10: 60,213,600 (GRCm39) |
V1495A |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,946,492 (GRCm39) |
S447P |
possibly damaging |
Het |
| Cfap43 |
G |
A |
19: 47,768,710 (GRCm39) |
T778I |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,901,043 (GRCm39) |
N170K |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,151 (GRCm39) |
L1979Q |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,289,514 (GRCm39) |
E846D |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,926,900 (GRCm39) |
K308E |
possibly damaging |
Het |
| Dcst1 |
T |
A |
3: 89,257,731 (GRCm39) |
T680S |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,376,445 (GRCm39) |
L1410P |
possibly damaging |
Het |
| Edem3 |
T |
A |
1: 151,646,578 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,581,760 (GRCm39) |
E34V |
probably benign |
Het |
| Eif4e2 |
T |
A |
1: 87,148,696 (GRCm39) |
Y64N |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,784,928 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
A |
T |
16: 47,893,826 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3b |
G |
T |
10: 79,808,855 (GRCm39) |
V202L |
probably benign |
Het |
| Gsdmc4 |
G |
A |
15: 63,767,101 (GRCm39) |
S223F |
possibly damaging |
Het |
| H2bc14 |
A |
G |
13: 21,906,470 (GRCm39) |
N68S |
probably benign |
Het |
| Hbp1 |
T |
C |
12: 31,987,651 (GRCm39) |
H183R |
probably benign |
Het |
| Hectd3 |
A |
G |
4: 116,859,331 (GRCm39) |
M652V |
probably benign |
Het |
| Hmgxb4 |
T |
C |
8: 75,726,193 (GRCm39) |
F13L |
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,492,281 (GRCm39) |
K271R |
probably benign |
Het |
| Ilvbl |
A |
T |
10: 78,412,947 (GRCm39) |
K156N |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,687,973 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,231,069 (GRCm39) |
V1194L |
probably benign |
Het |
| Kif18b |
A |
G |
11: 102,804,370 (GRCm39) |
F384L |
probably benign |
Het |
| Klf14 |
A |
G |
6: 30,934,774 (GRCm39) |
Y287H |
probably benign |
Het |
| Klhl6 |
A |
G |
16: 19,775,844 (GRCm39) |
M238T |
probably benign |
Het |
| Lbp |
G |
A |
2: 158,166,477 (GRCm39) |
V344I |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,739,439 (GRCm39) |
|
probably null |
Het |
| Mapk7 |
T |
A |
11: 61,384,447 (GRCm39) |
M1L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,048 (GRCm39) |
T2665A |
possibly damaging |
Het |
| Ncln |
A |
T |
10: 81,331,912 (GRCm39) |
|
probably null |
Het |
| Nfxl1 |
T |
C |
5: 72,697,708 (GRCm39) |
R347G |
probably benign |
Het |
| Npnt |
C |
A |
3: 132,612,179 (GRCm39) |
C231F |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,330,743 (GRCm39) |
H1070L |
probably benign |
Het |
| Nrxn1 |
G |
T |
17: 91,011,746 (GRCm39) |
Y294* |
probably null |
Het |
| Or4c126 |
A |
G |
2: 89,823,782 (GRCm39) |
D15G |
probably benign |
Het |
| Or9s27 |
T |
C |
1: 92,516,429 (GRCm39) |
Y126H |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,948,022 (GRCm39) |
H2341R |
possibly damaging |
Het |
| Paqr3 |
T |
C |
5: 97,243,887 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,796 (GRCm39) |
F709L |
probably benign |
Het |
| Phf12 |
G |
A |
11: 77,918,224 (GRCm39) |
R812Q |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,637,696 (GRCm39) |
L216Q |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,579,331 (GRCm39) |
L140P |
probably benign |
Het |
| Pou2f3 |
C |
T |
9: 43,045,769 (GRCm39) |
|
probably null |
Het |
| Prkcd |
A |
T |
14: 30,317,938 (GRCm39) |
N548K |
probably benign |
Het |
| Pygb |
A |
G |
2: 150,657,620 (GRCm39) |
D361G |
probably benign |
Het |
| Rpl9 |
A |
T |
5: 65,546,044 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,272,912 (GRCm39) |
T211S |
probably benign |
Het |
| Rusc1 |
C |
T |
3: 88,999,027 (GRCm39) |
G252S |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,337,318 (GRCm39) |
T60A |
probably damaging |
Het |
| Sipa1l2 |
T |
G |
8: 126,218,423 (GRCm39) |
T305P |
probably benign |
Het |
| Slc18b1 |
T |
A |
10: 23,700,565 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,608,861 (GRCm39) |
|
probably null |
Het |
| Tekt5 |
A |
T |
16: 10,205,017 (GRCm39) |
|
probably null |
Het |
| Tlnrd1 |
T |
A |
7: 83,533,693 (GRCm39) |
|
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,685,462 (GRCm39) |
|
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,814,719 (GRCm39) |
I461V |
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,455,467 (GRCm39) |
K643E |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,251,892 (GRCm39) |
C914R |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,849,738 (GRCm39) |
T1442I |
probably damaging |
Het |
| Ttll6 |
A |
G |
11: 96,026,415 (GRCm39) |
M107V |
possibly damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,445 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,553,370 (GRCm39) |
I914N |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,237,665 (GRCm39) |
T1107A |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,896,122 (GRCm39) |
C811* |
probably null |
Het |
| Vps11 |
T |
C |
9: 44,270,432 (GRCm39) |
|
probably null |
Het |
| Wdr91 |
A |
T |
6: 34,868,422 (GRCm39) |
I433N |
possibly damaging |
Het |
| Zfp770 |
G |
C |
2: 114,026,713 (GRCm39) |
S452* |
probably null |
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 |
|
|
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'- CTAGGACTAAACAGTTCTTAGCTCTAG -3'
(R):5'- TGCCCTGTATAAGCACACAG -3'
Sequencing Primer
(F):5'- AGTTCTTAGCTCTAGCCAAACTCTG -3'
(R):5'- AGCTCCCATACGCTACCCTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation