Incidental Mutation 'R8207:Farp2'
ID |
635942 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Farp2
|
Ensembl Gene |
ENSMUSG00000034066 |
Gene Name |
FERM, RhoGEF and pleckstrin domain protein 2 |
Synonyms |
Fir, D030026M03Rik |
MMRRC Submission |
067630-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8207 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
93439826-93549698 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93548965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 1024
(R1024G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027498]
[ENSMUST00000120301]
[ENSMUST00000133769]
|
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: ENSMUST00000120301
AA Change: R1024G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112725 Gene: ENSMUSG00000034066 AA Change: R1024G
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: ENSMUST00000133769
|
SMART Domains |
Protein: ENSMUSP00000117765 Gene: ENSMUSG00000026277
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
20 |
233 |
1.7e-63 |
PFAM |
Pfam:Pkinase_Tyr
|
20 |
233 |
2.1e-47 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (49/49) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aen |
G |
A |
7: 78,552,491 (GRCm39) |
M150I |
possibly damaging |
Het |
Arhgef11 |
A |
G |
3: 87,606,082 (GRCm39) |
N279S |
possibly damaging |
Het |
Arid3a |
T |
C |
10: 79,786,760 (GRCm39) |
|
probably null |
Het |
Casp8ap2 |
A |
G |
4: 32,646,446 (GRCm39) |
T1840A |
possibly damaging |
Het |
Ccdc14 |
T |
A |
16: 34,525,413 (GRCm39) |
N235K |
possibly damaging |
Het |
Cdh20 |
T |
C |
1: 109,922,076 (GRCm39) |
V56A |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,512,574 (GRCm39) |
R837H |
probably damaging |
Het |
Clec16a |
A |
G |
16: 10,445,312 (GRCm39) |
N518S |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,576,515 (GRCm39) |
D137G |
possibly damaging |
Het |
Cpt1b |
T |
C |
15: 89,303,018 (GRCm39) |
T649A |
probably damaging |
Het |
Efcab8 |
C |
G |
2: 153,631,145 (GRCm39) |
L192V |
probably damaging |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Fmo1 |
T |
A |
1: 162,677,676 (GRCm39) |
T147S |
probably benign |
Het |
Fryl |
A |
C |
5: 73,257,843 (GRCm39) |
|
probably null |
Het |
Galnt13 |
A |
C |
2: 54,770,122 (GRCm39) |
I305L |
probably benign |
Het |
Guca2a |
A |
G |
4: 119,494,951 (GRCm39) |
N2D |
unknown |
Het |
Iqcd |
C |
T |
5: 120,740,514 (GRCm39) |
R282W |
probably damaging |
Het |
Lamc1 |
A |
C |
1: 153,126,268 (GRCm39) |
C475G |
probably damaging |
Het |
Map3k5 |
AAAAGAAAAAGA |
AA |
10: 19,986,612 (GRCm39) |
|
probably null |
Het |
Med13 |
A |
T |
11: 86,194,375 (GRCm39) |
D789E |
probably damaging |
Het |
Mn1 |
A |
G |
5: 111,569,651 (GRCm39) |
Y1207C |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,967,892 (GRCm39) |
D977G |
possibly damaging |
Het |
Mrpl53 |
A |
T |
6: 83,086,169 (GRCm39) |
N26I |
probably damaging |
Het |
Nell1 |
A |
T |
7: 49,869,760 (GRCm39) |
|
probably null |
Het |
Ogdh |
T |
G |
11: 6,299,329 (GRCm39) |
F743V |
probably benign |
Het |
Or4d10b |
A |
T |
19: 12,036,222 (GRCm39) |
M298K |
possibly damaging |
Het |
Or4n4 |
C |
T |
14: 50,519,036 (GRCm39) |
V225I |
probably benign |
Het |
Or6c3 |
A |
G |
10: 129,308,953 (GRCm39) |
T131A |
probably benign |
Het |
Plscr1l1 |
T |
A |
9: 92,233,061 (GRCm39) |
F61L |
probably benign |
Het |
Pmvk |
A |
G |
3: 89,375,899 (GRCm39) |
E174G |
probably benign |
Het |
Pou6f2 |
T |
C |
13: 18,414,158 (GRCm39) |
N206D |
|
Het |
Prelid3a |
A |
T |
18: 67,606,018 (GRCm39) |
S42C |
probably benign |
Het |
Riok1 |
T |
A |
13: 38,236,296 (GRCm39) |
H347Q |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,789,650 (GRCm39) |
L1488P |
probably damaging |
Het |
Shkbp1 |
A |
G |
7: 27,052,109 (GRCm39) |
V158A |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,360,076 (GRCm39) |
I43M |
possibly damaging |
Het |
Smarca2 |
A |
G |
19: 26,654,080 (GRCm39) |
N755S |
possibly damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tfb2m |
G |
A |
1: 179,373,668 (GRCm39) |
P10L |
probably benign |
Het |
Trim30c |
T |
C |
7: 104,032,703 (GRCm39) |
M252V |
probably benign |
Het |
Ttll1 |
A |
G |
15: 83,384,279 (GRCm39) |
L116P |
probably damaging |
Het |
Tubd1 |
C |
T |
11: 86,440,248 (GRCm39) |
H91Y |
possibly damaging |
Het |
Vgll4 |
A |
G |
6: 114,839,786 (GRCm39) |
S175P |
probably damaging |
Het |
Vmn1r79 |
A |
G |
7: 11,910,415 (GRCm39) |
Y99C |
possibly damaging |
Het |
Vmn2r80 |
C |
T |
10: 79,030,150 (GRCm39) |
Q659* |
probably null |
Het |
Zfp382 |
A |
G |
7: 29,833,840 (GRCm39) |
D497G |
possibly damaging |
Het |
Zfp41 |
A |
G |
15: 75,490,384 (GRCm39) |
E112G |
probably damaging |
Het |
Zfyve26 |
A |
G |
12: 79,307,605 (GRCm39) |
S1754P |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTGCCTTGTTTTAGGAGACAG -3'
(R):5'- AGTGCCTGGGATGATGCTTAC -3'
Sequencing Primer
(F):5'- ACCTCCTCAGTGCTGGATTAGG -3'
(R):5'- GATGATGCTTACAGTCCCTGCAAG -3'
|
Posted On |
2020-07-13 |