Incidental Mutation 'IGL02802:Farp2'
| ID |
392062 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL02802 (G1)
|
| Quality Score |
127 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93439826-93549698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93456332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 5
(E5G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120301]
[ENSMUST00000122402]
|
| 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: ENSMUST00000120301
AA Change: E5G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: E5G
| 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 |
possibly damaging
Transcript: ENSMUST00000122402
AA Change: E5G
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: E5G
| 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
|
463 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
690 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194919
|
| Meta Mutation Damage Score |
0.3688 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
C |
1: 130,671,130 (GRCm39) |
T451P |
probably benign |
Het |
| Actbl2 |
A |
G |
13: 111,392,310 (GRCm39) |
E215G |
probably damaging |
Het |
| Adh6b |
A |
G |
3: 138,058,545 (GRCm39) |
T198A |
possibly damaging |
Het |
| Bicd2 |
A |
G |
13: 49,531,804 (GRCm39) |
K349E |
probably damaging |
Het |
| Bsnd |
T |
A |
4: 106,349,231 (GRCm39) |
D3V |
probably damaging |
Het |
| Cd83 |
T |
A |
13: 43,953,147 (GRCm39) |
L142Q |
probably null |
Het |
| Cdh20 |
A |
G |
1: 110,065,655 (GRCm39) |
E643G |
probably damaging |
Het |
| Ces1b |
T |
G |
8: 93,783,594 (GRCm39) |
E542A |
possibly damaging |
Het |
| Cfhr2 |
A |
G |
1: 139,738,762 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,769,186 (GRCm39) |
D471G |
probably damaging |
Het |
| Cntn5 |
C |
A |
9: 10,048,683 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
A |
T |
6: 46,147,179 (GRCm39) |
D475V |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,679 (GRCm39) |
F906S |
probably benign |
Het |
| Cobll1 |
A |
T |
2: 64,928,663 (GRCm39) |
S888T |
probably damaging |
Het |
| Csf2rb |
G |
A |
15: 78,223,103 (GRCm39) |
R105Q |
probably benign |
Het |
| Ctnnd1 |
C |
A |
2: 84,454,806 (GRCm39) |
M1I |
probably null |
Het |
| Cxxc1 |
C |
T |
18: 74,352,481 (GRCm39) |
Q354* |
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,304,930 (GRCm39) |
D324G |
possibly damaging |
Het |
| Donson |
T |
C |
16: 91,478,196 (GRCm39) |
D435G |
possibly damaging |
Het |
| Ephb1 |
T |
C |
9: 101,887,218 (GRCm39) |
K474E |
possibly damaging |
Het |
| Erbin |
A |
G |
13: 104,004,638 (GRCm39) |
L130P |
probably damaging |
Het |
| Fam221a |
C |
T |
6: 49,355,411 (GRCm39) |
T171I |
probably damaging |
Het |
| Fblim1 |
A |
G |
4: 141,317,431 (GRCm39) |
S85P |
possibly damaging |
Het |
| Fhl2 |
A |
T |
1: 43,162,761 (GRCm39) |
C251* |
probably null |
Het |
| Glis2 |
T |
C |
16: 4,429,735 (GRCm39) |
|
probably null |
Het |
| Gm10715 |
A |
C |
9: 3,038,062 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,031,999 (GRCm39) |
P127S |
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,651,762 (GRCm39) |
L246P |
probably damaging |
Het |
| Igkv5-39 |
G |
A |
6: 69,877,457 (GRCm39) |
P100S |
probably benign |
Het |
| Jup |
T |
C |
11: 100,269,204 (GRCm39) |
D403G |
probably benign |
Het |
| Kank1 |
T |
C |
19: 25,388,963 (GRCm39) |
Y879H |
probably damaging |
Het |
| Kcna3 |
G |
A |
3: 106,944,369 (GRCm39) |
E211K |
probably damaging |
Het |
| Klc3 |
A |
T |
7: 19,129,049 (GRCm39) |
I440N |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,709 (GRCm39) |
T280A |
probably benign |
Het |
| Nat3 |
A |
T |
8: 68,000,160 (GRCm39) |
Q13L |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,372,963 (GRCm39) |
N272S |
probably benign |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
T |
C |
8: 26,130,922 (GRCm39) |
S96P |
probably damaging |
Het |
| Ntaq1 |
A |
G |
15: 58,011,833 (GRCm39) |
S65G |
probably benign |
Het |
| Nudt16l1 |
C |
T |
16: 4,757,131 (GRCm39) |
R43C |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,891,310 (GRCm39) |
Q7074L |
unknown |
Het |
| Or4p20 |
A |
G |
2: 88,253,832 (GRCm39) |
V179A |
probably benign |
Het |
| Or5m12 |
A |
G |
2: 85,734,733 (GRCm39) |
S222P |
probably damaging |
Het |
| Or5p78 |
A |
T |
7: 108,211,669 (GRCm39) |
I52F |
probably damaging |
Het |
| Or6c206 |
T |
A |
10: 129,097,136 (GRCm39) |
|
probably null |
Het |
| Or8b37 |
T |
G |
9: 37,959,345 (GRCm39) |
Y276D |
probably damaging |
Het |
| Or8k30 |
T |
A |
2: 86,339,290 (GRCm39) |
N162K |
probably benign |
Het |
| P4htm |
C |
T |
9: 108,460,055 (GRCm39) |
D240N |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,369,835 (GRCm39) |
|
probably benign |
Het |
| Plppr5 |
T |
C |
3: 117,456,228 (GRCm39) |
S250P |
probably damaging |
Het |
| Pmis2 |
T |
C |
7: 30,370,919 (GRCm39) |
K12E |
probably benign |
Het |
| Ppox |
A |
T |
1: 171,105,066 (GRCm39) |
L374* |
probably null |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,883,004 (GRCm39) |
|
probably benign |
Het |
| Tent2 |
A |
T |
13: 93,285,449 (GRCm39) |
N436K |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,904,389 (GRCm39) |
I326T |
probably benign |
Het |
| Thrap3 |
T |
C |
4: 126,059,157 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,622,654 (GRCm39) |
M18L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,604,924 (GRCm39) |
V18337I |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,946,601 (GRCm39) |
S34P |
possibly damaging |
Het |
| Vps72 |
T |
A |
3: 95,026,545 (GRCm39) |
C163* |
probably null |
Het |
| Zfp831 |
T |
A |
2: 174,486,945 (GRCm39) |
I540N |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTACAACTGTATGTATAGGAAG -3'
(R):5'- AAAACCCATGCTTCTTACCTCG -3'
Sequencing Primer
(F):5'- TGTACTGGAACTCACGCTGTAGAC -3'
(R):5'- CTCGATGTCAAATAACTCTACAGTGC -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation