Incidental Mutation 'IGL01408:Farp2'
ID |
79890 |
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 # |
IGL01408
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
93439826-93549698 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93546702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 907
(N907S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027498]
[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 benign
Transcript: ENSMUST00000027498
|
SMART Domains |
Protein: ENSMUSP00000027498 Gene: ENSMUSG00000026277
Domain | Start | End | E-Value | Type |
S_TKc
|
20 |
270 |
2.92e-98 |
SMART |
low complexity region
|
292 |
314 |
N/A |
INTRINSIC |
PDB:3W8H|B
|
355 |
426 |
8e-43 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041983
AA Change: N907S
PolyPhen 2
Score 0.020 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043545 Gene: ENSMUSG00000034066 AA Change: N907S
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 benign
Transcript: ENSMUST00000120301
AA Change: N907S
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000112725 Gene: ENSMUSG00000034066 AA Change: N907S
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 |
noncoding transcript
Transcript: ENSMUST00000125778
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151068
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154008
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530068E07Rik |
A |
G |
11: 52,294,193 (GRCm39) |
R145G |
probably damaging |
Het |
Akr1c21 |
T |
A |
13: 4,627,431 (GRCm39) |
M175K |
probably benign |
Het |
Apol7a |
C |
T |
15: 77,273,530 (GRCm39) |
A311T |
probably damaging |
Het |
Atxn10 |
G |
T |
15: 85,260,896 (GRCm39) |
E214* |
probably null |
Het |
Bmp2k |
C |
T |
5: 97,234,823 (GRCm39) |
Q749* |
probably null |
Het |
Ccdc141 |
G |
A |
2: 76,876,023 (GRCm39) |
A669V |
probably benign |
Het |
Cndp2 |
A |
C |
18: 84,689,036 (GRCm39) |
C249G |
probably benign |
Het |
Cnr1 |
A |
G |
4: 33,944,802 (GRCm39) |
I397V |
possibly damaging |
Het |
Col19a1 |
T |
C |
1: 24,345,331 (GRCm39) |
|
probably benign |
Het |
Dbn1 |
T |
C |
13: 55,630,117 (GRCm39) |
|
probably benign |
Het |
Dmgdh |
C |
T |
13: 93,845,803 (GRCm39) |
P486S |
probably damaging |
Het |
Dpys |
A |
G |
15: 39,656,702 (GRCm39) |
V455A |
possibly damaging |
Het |
Fndc3c1 |
C |
T |
X: 105,476,378 (GRCm39) |
E894K |
probably benign |
Het |
Gm6685 |
A |
T |
11: 28,289,473 (GRCm39) |
N114K |
probably damaging |
Het |
Golga3 |
A |
T |
5: 110,365,675 (GRCm39) |
|
probably null |
Het |
Grin2c |
A |
G |
11: 115,151,708 (GRCm39) |
L84P |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,675,009 (GRCm39) |
F1001L |
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,767,169 (GRCm39) |
H910R |
unknown |
Het |
Kdm4b |
T |
C |
17: 56,660,518 (GRCm39) |
|
probably benign |
Het |
Lrrfip2 |
A |
G |
9: 111,043,284 (GRCm39) |
T497A |
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,048,884 (GRCm39) |
Y924C |
probably damaging |
Het |
Nkain2 |
T |
A |
10: 32,278,237 (GRCm39) |
T63S |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,013,742 (GRCm39) |
T503S |
probably benign |
Het |
Or52n3 |
T |
C |
7: 104,530,037 (GRCm39) |
V41A |
probably benign |
Het |
Or52n4 |
T |
A |
7: 104,294,136 (GRCm39) |
I146F |
possibly damaging |
Het |
Pitrm1 |
T |
A |
13: 6,623,078 (GRCm39) |
C780S |
probably damaging |
Het |
Plekha5 |
C |
T |
6: 140,516,042 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
C |
T |
2: 72,005,185 (GRCm39) |
R193* |
probably null |
Het |
Rbm20 |
A |
G |
19: 53,840,044 (GRCm39) |
E1011G |
possibly damaging |
Het |
Rfx3 |
A |
T |
19: 27,746,050 (GRCm39) |
D685E |
probably benign |
Het |
Ror1 |
T |
C |
4: 100,190,984 (GRCm39) |
S114P |
probably damaging |
Het |
Slc17a6 |
A |
G |
7: 51,318,863 (GRCm39) |
K502E |
probably benign |
Het |
Spink2 |
A |
T |
5: 77,359,174 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
T |
12: 76,659,921 (GRCm39) |
I993N |
possibly damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tes |
A |
T |
6: 17,099,878 (GRCm39) |
Y291F |
probably damaging |
Het |
Tmtc4 |
G |
T |
14: 123,163,366 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,959,637 (GRCm39) |
E683G |
probably benign |
Het |
Vmn2r73 |
T |
C |
7: 85,521,455 (GRCm39) |
D171G |
probably benign |
Het |
Wbp11 |
A |
G |
6: 136,791,612 (GRCm39) |
|
probably benign |
Het |
Wfdc12 |
A |
G |
2: 164,031,581 (GRCm39) |
*86R |
probably null |
Het |
Zfp281 |
T |
C |
1: 136,553,853 (GRCm39) |
V277A |
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 |
IGL01919:Farp2
|
APN |
1 |
93,504,155 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01985:Farp2
|
APN |
1 |
93,535,324 (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 |
2013-11-05 |