Incidental Mutation 'IGL01985:Farp2'
| ID |
181872 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Farp2
|
| Ensembl Gene |
ENSMUSG00000034066 |
| Gene Name |
FERM, RhoGEF and pleckstrin domain protein 2 |
| Synonyms |
Fir, D030026M03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93439826-93549698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93535324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 691
(Y691C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120301]
|
| AlphaFold |
Q91VS8 |
| PDB Structure |
Crystal strucure of the DH domain of FARP2 [X-RAY DIFFRACTION]
Crystal strucure of the DH-PH-PH domain of FARP2 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041983
AA Change: Y691C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043545
Gene: ENSMUSG00000034066
AA Change: Y691C
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
40 |
234 |
1.48e-66 |
SMART |
|
FERM_C
|
238 |
328 |
3.29e-35 |
SMART |
|
FA
|
332 |
378 |
1.13e-15 |
SMART |
|
low complexity region
|
409 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
492 |
N/A |
INTRINSIC |
|
RhoGEF
|
542 |
728 |
1.57e-56 |
SMART |
|
PH
|
759 |
857 |
1.45e-19 |
SMART |
|
low complexity region
|
879 |
890 |
N/A |
INTRINSIC |
|
PH
|
931 |
1029 |
2.62e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120301
AA Change: Y691C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: Y691C
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
40 |
234 |
1.48e-66 |
SMART |
|
FERM_C
|
238 |
328 |
3.29e-35 |
SMART |
|
FA
|
332 |
378 |
1.13e-15 |
SMART |
|
low complexity region
|
409 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
492 |
N/A |
INTRINSIC |
|
RhoGEF
|
542 |
728 |
1.57e-56 |
SMART |
|
PH
|
759 |
857 |
1.45e-19 |
SMART |
|
low complexity region
|
879 |
890 |
N/A |
INTRINSIC |
|
PH
|
931 |
1029 |
2.62e-17 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
G |
A |
4: 144,442,024 (GRCm39) |
Q76* |
probably null |
Het |
| Cass4 |
A |
C |
2: 172,269,126 (GRCm39) |
S403R |
probably damaging |
Het |
| Ccdc175 |
A |
T |
12: 72,175,052 (GRCm39) |
Y540* |
probably null |
Het |
| Cep164 |
C |
T |
9: 45,690,904 (GRCm39) |
E1266K |
probably damaging |
Het |
| Clec12b |
T |
A |
6: 129,359,334 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,814,482 (GRCm39) |
K510R |
unknown |
Het |
| Crisp4 |
G |
A |
1: 18,204,289 (GRCm39) |
P101S |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,884,074 (GRCm39) |
L614P |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,603,303 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,911,614 (GRCm39) |
F589L |
probably benign |
Het |
| Dvl2 |
T |
A |
11: 69,899,119 (GRCm39) |
V459E |
probably damaging |
Het |
| E2f6 |
T |
C |
12: 16,869,064 (GRCm39) |
|
probably null |
Het |
| Exph5 |
T |
C |
9: 53,287,869 (GRCm39) |
L1650P |
probably damaging |
Het |
| Fshb |
T |
C |
2: 106,889,173 (GRCm39) |
T44A |
probably benign |
Het |
| Gm28044 |
T |
A |
13: 67,495,958 (GRCm39) |
K28* |
probably null |
Het |
| Il12b |
G |
A |
11: 44,298,881 (GRCm39) |
W112* |
probably null |
Het |
| Ino80 |
T |
C |
2: 119,263,802 (GRCm39) |
T621A |
probably damaging |
Het |
| Irx5 |
T |
A |
8: 93,086,155 (GRCm39) |
|
probably benign |
Het |
| Jmy |
T |
C |
13: 93,596,144 (GRCm39) |
H495R |
possibly damaging |
Het |
| Kif21a |
A |
T |
15: 90,875,970 (GRCm39) |
V321D |
probably damaging |
Het |
| Lrrc10 |
T |
A |
10: 116,881,921 (GRCm39) |
D198E |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,818,103 (GRCm39) |
E651G |
probably benign |
Het |
| Mtarc1 |
A |
G |
1: 184,519,931 (GRCm39) |
V230A |
probably damaging |
Het |
| Mylk4 |
T |
A |
13: 32,901,564 (GRCm39) |
I475L |
possibly damaging |
Het |
| Myom3 |
G |
A |
4: 135,493,013 (GRCm39) |
|
probably null |
Het |
| Or5ac19 |
A |
T |
16: 59,089,442 (GRCm39) |
V196E |
probably benign |
Het |
| Pah |
G |
A |
10: 87,414,844 (GRCm39) |
V399M |
probably damaging |
Het |
| Pik3r4 |
G |
A |
9: 105,540,244 (GRCm39) |
E711K |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,570,296 (GRCm39) |
K38E |
probably damaging |
Het |
| Ror1 |
G |
A |
4: 100,283,161 (GRCm39) |
V409M |
possibly damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,111,853 (GRCm39) |
V140D |
probably benign |
Het |
| Srebf2 |
G |
T |
15: 82,076,560 (GRCm39) |
A737S |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,663,721 (GRCm39) |
T303A |
unknown |
Het |
| Tmem74 |
A |
T |
15: 43,730,476 (GRCm39) |
I189N |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,746,607 (GRCm39) |
D1242G |
possibly damaging |
Het |
| U2surp |
A |
T |
9: 95,372,279 (GRCm39) |
F293L |
probably damaging |
Het |
| Uchl5 |
G |
A |
1: 143,661,864 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,402,565 (GRCm39) |
C2472S |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,700,940 (GRCm39) |
R1028W |
probably damaging |
Het |
| Vmn2r10 |
A |
G |
5: 109,154,125 (GRCm39) |
S60P |
probably benign |
Het |
| Vmn2r31 |
G |
T |
7: 7,397,510 (GRCm39) |
D249E |
probably benign |
Het |
| Vnn1 |
C |
T |
10: 23,776,642 (GRCm39) |
T331I |
probably benign |
Het |
| Zmym6 |
G |
T |
4: 126,994,541 (GRCm39) |
V232F |
probably damaging |
Het |
|
| Other mutations in Farp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00598:Farp2
|
APN |
1 |
93,531,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00953:Farp2
|
APN |
1 |
93,488,896 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00961:Farp2
|
APN |
1 |
93,549,035 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL00970:Farp2
|
APN |
1 |
93,488,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01377:Farp2
|
APN |
1 |
93,531,181 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01408:Farp2
|
APN |
1 |
93,546,702 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01919:Farp2
|
APN |
1 |
93,504,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02375:Farp2
|
APN |
1 |
93,504,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02392:Farp2
|
APN |
1 |
93,505,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02815:Farp2
|
APN |
1 |
93,488,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03003:Farp2
|
APN |
1 |
93,495,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03074:Farp2
|
APN |
1 |
93,488,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03223:Farp2
|
APN |
1 |
93,545,324 (GRCm39) |
nonsense |
probably null |
|
|
IGL03379:Farp2
|
APN |
1 |
93,535,160 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02802:Farp2
|
UTSW |
1 |
93,456,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Farp2
|
UTSW |
1 |
93,456,499 (GRCm39) |
nonsense |
probably null |
|
|
PIT4494001:Farp2
|
UTSW |
1 |
93,545,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0207:Farp2
|
UTSW |
1 |
93,496,809 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0521:Farp2
|
UTSW |
1 |
93,504,543 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0594:Farp2
|
UTSW |
1 |
93,504,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Farp2
|
UTSW |
1 |
93,547,873 (GRCm39) |
splice site |
probably null |
|
|
R1522:Farp2
|
UTSW |
1 |
93,546,275 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1589:Farp2
|
UTSW |
1 |
93,507,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Farp2
|
UTSW |
1 |
93,531,191 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1695:Farp2
|
UTSW |
1 |
93,488,047 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1833:Farp2
|
UTSW |
1 |
93,504,086 (GRCm39) |
splice site |
probably benign |
|
|
R1915:Farp2
|
UTSW |
1 |
93,456,424 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2241:Farp2
|
UTSW |
1 |
93,507,625 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4505:Farp2
|
UTSW |
1 |
93,546,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4518:Farp2
|
UTSW |
1 |
93,548,363 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4551:Farp2
|
UTSW |
1 |
93,546,314 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4723:Farp2
|
UTSW |
1 |
93,508,621 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4821:Farp2
|
UTSW |
1 |
93,502,192 (GRCm39) |
splice site |
probably null |
|
|
R4861:Farp2
|
UTSW |
1 |
93,533,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4861:Farp2
|
UTSW |
1 |
93,533,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5221:Farp2
|
UTSW |
1 |
93,504,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5625:Farp2
|
UTSW |
1 |
93,456,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5663:Farp2
|
UTSW |
1 |
93,497,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Farp2
|
UTSW |
1 |
93,548,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6593:Farp2
|
UTSW |
1 |
93,497,662 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6853:Farp2
|
UTSW |
1 |
93,497,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Farp2
|
UTSW |
1 |
93,547,952 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7001:Farp2
|
UTSW |
1 |
93,547,906 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7133:Farp2
|
UTSW |
1 |
93,548,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Farp2
|
UTSW |
1 |
93,531,181 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7184:Farp2
|
UTSW |
1 |
93,531,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7219:Farp2
|
UTSW |
1 |
93,488,040 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7234:Farp2
|
UTSW |
1 |
93,507,841 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7426:Farp2
|
UTSW |
1 |
93,548,950 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7477:Farp2
|
UTSW |
1 |
93,508,750 (GRCm39) |
splice site |
probably null |
|
|
R7503:Farp2
|
UTSW |
1 |
93,495,219 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7921:Farp2
|
UTSW |
1 |
93,495,237 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7939:Farp2
|
UTSW |
1 |
93,487,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7985:Farp2
|
UTSW |
1 |
93,504,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8162:Farp2
|
UTSW |
1 |
93,548,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8207:Farp2
|
UTSW |
1 |
93,548,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8292:Farp2
|
UTSW |
1 |
93,456,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Farp2
|
UTSW |
1 |
93,504,614 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8495:Farp2
|
UTSW |
1 |
93,531,139 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9106:Farp2
|
UTSW |
1 |
93,488,910 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Farp2
|
UTSW |
1 |
93,508,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Farp2
|
UTSW |
1 |
93,508,183 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Farp2
|
UTSW |
1 |
93,507,858 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation