Incidental Mutation 'R3500:Fgd2'
| ID |
273781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fgd2
|
| Ensembl Gene |
ENSMUSG00000024013 |
| Gene Name |
FYVE, RhoGEF and PH domain containing 2 |
| Synonyms |
Tcd-2, tcs2, Tcd2, tcs-2 |
| MMRRC Submission |
040663-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.181)
|
| Stock # |
R3500 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
29360914-29379660 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29365601 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 173
(V173A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024810]
[ENSMUST00000123989]
|
| AlphaFold |
Q8BY35 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024810
AA Change: V173A
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: V173A
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
106 |
289 |
4.49e-66 |
SMART |
|
PH
|
320 |
420 |
2.09e-16 |
SMART |
|
FYVE
|
450 |
519 |
1.07e-28 |
SMART |
|
PH
|
545 |
643 |
5.09e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123989
AA Change: V173A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118828
Gene: ENSMUSG00000024013
AA Change: V173A
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
106 |
289 |
4.49e-66 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146800
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amhr2 |
A |
G |
15: 102,447,066 (GRCm38) |
D188G |
probably benign |
Het |
| Arl15 |
G |
A |
13: 113,967,692 (GRCm38) |
E102K |
probably damaging |
Het |
| Atp10d |
C |
T |
5: 72,245,723 (GRCm38) |
R319C |
probably damaging |
Het |
| Cetn4 |
A |
T |
3: 37,309,960 (GRCm38) |
F34I |
probably benign |
Het |
| Chd8 |
G |
T |
14: 52,205,653 (GRCm38) |
H510N |
probably benign |
Het |
| Chil5 |
T |
C |
3: 106,018,220 (GRCm38) |
D157G |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,292,995 (GRCm38) |
S251P |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,431,711 (GRCm38) |
C881S |
probably benign |
Het |
| Cnot4 |
G |
A |
6: 35,080,141 (GRCm38) |
|
probably benign |
Het |
| Copg1 |
G |
A |
6: 87,895,923 (GRCm38) |
|
probably benign |
Het |
| Czib |
C |
T |
4: 107,891,513 (GRCm38) |
R83W |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,844,180 (GRCm38) |
M631T |
probably damaging |
Het |
| Elavl3 |
A |
G |
9: 22,018,744 (GRCm38) |
V288A |
probably damaging |
Het |
| Fancb |
A |
G |
X: 164,996,108 (GRCm38) |
T721A |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,260,516 (GRCm38) |
F3800S |
probably damaging |
Het |
| Gabrr1 |
T |
C |
4: 33,158,184 (GRCm38) |
|
probably benign |
Het |
| Gata4 |
C |
T |
14: 63,200,533 (GRCm38) |
G390S |
possibly damaging |
Het |
| Gm9396 |
C |
A |
3: 130,068,495 (GRCm38) |
|
noncoding transcript |
Het |
| Grid2 |
T |
C |
6: 63,503,399 (GRCm38) |
S66P |
probably damaging |
Het |
| Hdac9 |
C |
A |
12: 34,437,353 (GRCm38) |
M16I |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,299,479 (GRCm38) |
D3610E |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,660,449 (GRCm38) |
M1K |
probably null |
Het |
| Ldhb |
T |
C |
6: 142,501,447 (GRCm38) |
D47G |
probably damaging |
Het |
| Map3k11 |
A |
T |
19: 5,690,247 (GRCm38) |
M1L |
probably benign |
Het |
| Mecom |
C |
T |
3: 29,980,912 (GRCm38) |
R205H |
probably damaging |
Het |
| Mob1b |
A |
G |
5: 88,749,620 (GRCm38) |
D129G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,681,010 (GRCm38) |
V2436A |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,325,785 (GRCm38) |
N170S |
probably damaging |
Het |
| Nedd4l |
G |
A |
18: 65,212,860 (GRCm38) |
A848T |
probably damaging |
Het |
| Nr5a1 |
G |
A |
2: 38,707,940 (GRCm38) |
R282* |
probably null |
Het |
| Olfr1224-ps1 |
C |
T |
2: 89,157,059 (GRCm38) |
G39R |
probably damaging |
Het |
| Or4c102 |
A |
G |
2: 88,591,941 (GRCm38) |
T46A |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,088,057 (GRCm38) |
V245A |
possibly damaging |
Het |
| Or4f47 |
T |
C |
2: 112,142,127 (GRCm38) |
F61L |
possibly damaging |
Het |
| Or52e2 |
T |
C |
7: 103,155,090 (GRCm38) |
Y219C |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,497,479 (GRCm38) |
L109* |
probably null |
Het |
| Plcg2 |
A |
G |
8: 117,612,978 (GRCm38) |
M1043V |
probably benign |
Het |
| Podxl2 |
T |
C |
6: 88,842,918 (GRCm38) |
D554G |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,881,512 (GRCm38) |
T252A |
probably benign |
Het |
| Pramel6 |
A |
G |
2: 87,509,225 (GRCm38) |
H111R |
probably damaging |
Het |
| Prr19 |
A |
G |
7: 25,303,267 (GRCm38) |
E130G |
probably damaging |
Het |
| Rab44 |
C |
T |
17: 29,138,067 (GRCm38) |
A57V |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,319,705 (GRCm38) |
F95L |
probably damaging |
Het |
| Sdk1 |
G |
T |
5: 142,006,616 (GRCm38) |
|
probably benign |
Het |
| Tas2r122 |
T |
A |
6: 132,711,560 (GRCm38) |
K123N |
probably damaging |
Het |
| Tbpl2 |
C |
T |
2: 24,087,139 (GRCm38) |
R289Q |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,932,302 (GRCm38) |
F788L |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,761,165 (GRCm38) |
F19307L |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,730,284 (GRCm38) |
L29258F |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,713,170 (GRCm38) |
I335T |
possibly damaging |
Het |
|
| Other mutations in Fgd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Fgd2
|
APN |
17 |
29,367,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01505:Fgd2
|
APN |
17 |
29,366,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03240:Fgd2
|
APN |
17 |
29,361,161 (GRCm38) |
splice site |
probably benign |
|
|
ceci
|
UTSW |
17 |
29,368,376 (GRCm38) |
splice site |
probably null |
|
|
R0046:Fgd2
|
UTSW |
17 |
29,374,990 (GRCm38) |
splice site |
probably benign |
|
|
R0271:Fgd2
|
UTSW |
17 |
29,367,008 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0594:Fgd2
|
UTSW |
17 |
29,365,552 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0612:Fgd2
|
UTSW |
17 |
29,378,347 (GRCm38) |
missense |
probably benign |
0.45 |
|
R1470:Fgd2
|
UTSW |
17 |
29,374,108 (GRCm38) |
splice site |
probably benign |
|
|
R1551:Fgd2
|
UTSW |
17 |
29,378,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1596:Fgd2
|
UTSW |
17 |
29,376,930 (GRCm38) |
missense |
probably benign |
0.43 |
|
R1664:Fgd2
|
UTSW |
17 |
29,369,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1689:Fgd2
|
UTSW |
17 |
29,363,722 (GRCm38) |
missense |
probably benign |
|
|
R1691:Fgd2
|
UTSW |
17 |
29,378,944 (GRCm38) |
nonsense |
probably null |
|
|
R1695:Fgd2
|
UTSW |
17 |
29,368,245 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R2697:Fgd2
|
UTSW |
17 |
29,376,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3689:Fgd2
|
UTSW |
17 |
29,378,950 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4583:Fgd2
|
UTSW |
17 |
29,367,078 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4871:Fgd2
|
UTSW |
17 |
29,373,249 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5011:Fgd2
|
UTSW |
17 |
29,374,980 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5209:Fgd2
|
UTSW |
17 |
29,368,376 (GRCm38) |
splice site |
probably null |
|
|
R7106:Fgd2
|
UTSW |
17 |
29,376,970 (GRCm38) |
nonsense |
probably null |
|
|
R7139:Fgd2
|
UTSW |
17 |
29,373,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7712:Fgd2
|
UTSW |
17 |
29,376,912 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7833:Fgd2
|
UTSW |
17 |
29,367,395 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7834:Fgd2
|
UTSW |
17 |
29,364,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7913:Fgd2
|
UTSW |
17 |
29,374,045 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8547:Fgd2
|
UTSW |
17 |
29,364,960 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8686:Fgd2
|
UTSW |
17 |
29,379,023 (GRCm38) |
missense |
probably benign |
|
|
R9088:Fgd2
|
UTSW |
17 |
29,364,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9525:Fgd2
|
UTSW |
17 |
29,364,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9601:Fgd2
|
UTSW |
17 |
29,374,886 (GRCm38) |
missense |
probably benign |
0.09 |
|
Z1177:Fgd2
|
UTSW |
17 |
29,378,326 (GRCm38) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTTCCTCTTTGAGTAGGGC -3'
(R):5'- CTAGGAAACCAGCCTGTTAACAG -3'
Sequencing Primer
(F):5'- CCTCTTTGAGTAGGGCGTGAG -3'
(R):5'- GCCTGTTAACAGATGCCAAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation