Incidental Mutation 'R7184:Farp2'
| ID |
559149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Farp2
|
| Ensembl Gene |
ENSMUSG00000034066 |
| Gene Name |
FERM, RhoGEF and pleckstrin domain protein 2 |
| Synonyms |
Fir, D030026M03Rik |
| MMRRC Submission |
045236-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7184 (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 93531137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 545
(E545G)
|
| 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: ENSMUST00000120301
AA Change: E545G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: E545G
| 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 |
|
| Meta Mutation Damage Score |
0.9148 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,094,219 (GRCm39) |
S500P |
possibly damaging |
Het |
| Aldh9a1 |
T |
A |
1: 167,184,965 (GRCm39) |
N292K |
probably benign |
Het |
| Art2b |
A |
T |
7: 101,229,658 (GRCm39) |
S80R |
probably benign |
Het |
| Atp6v1b2 |
G |
T |
8: 69,555,219 (GRCm39) |
A194S |
possibly damaging |
Het |
| Bsnd |
T |
C |
4: 106,349,109 (GRCm39) |
M44V |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,583,428 (GRCm39) |
V383E |
probably benign |
Het |
| Cd93 |
T |
C |
2: 148,284,459 (GRCm39) |
T296A |
possibly damaging |
Het |
| Cdk15 |
G |
T |
1: 59,304,814 (GRCm39) |
E138D |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,375,191 (GRCm39) |
I406V |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,660,822 (GRCm39) |
V622A |
possibly damaging |
Het |
| Cyp3a41a |
A |
G |
5: 145,642,663 (GRCm39) |
V232A |
probably benign |
Het |
| Dbndd1 |
T |
A |
8: 124,235,860 (GRCm39) |
D130V |
probably damaging |
Het |
| Dnah14 |
C |
T |
1: 181,532,094 (GRCm39) |
R2294* |
probably null |
Het |
| Eddm3b |
A |
G |
14: 51,354,387 (GRCm39) |
Y125C |
probably damaging |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
| Enah |
A |
T |
1: 181,749,957 (GRCm39) |
V294E |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,458,994 (GRCm39) |
E22G |
possibly damaging |
Het |
| Fcsk |
G |
A |
8: 111,613,788 (GRCm39) |
P758S |
probably damaging |
Het |
| Fezf1 |
A |
G |
6: 23,247,835 (GRCm39) |
V80A |
probably benign |
Het |
| Fpr2 |
T |
C |
17: 18,113,533 (GRCm39) |
Y39H |
unknown |
Het |
| Fsd1l |
C |
A |
4: 53,694,054 (GRCm39) |
R344S |
probably damaging |
Het |
| Fxyd1 |
G |
T |
7: 30,751,401 (GRCm39) |
R90S |
unknown |
Het |
| Galnt4 |
T |
A |
10: 98,944,466 (GRCm39) |
Y64N |
probably damaging |
Het |
| Gatb |
C |
T |
3: 85,544,258 (GRCm39) |
Q409* |
probably null |
Het |
| Glipr2 |
A |
C |
4: 43,968,667 (GRCm39) |
D73A |
possibly damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gpr88 |
C |
T |
3: 116,045,643 (GRCm39) |
V223I |
possibly damaging |
Het |
| Gtf2h3 |
A |
G |
5: 124,722,067 (GRCm39) |
N55S |
probably benign |
Het |
| Htr4 |
T |
A |
18: 62,570,498 (GRCm39) |
C184* |
probably null |
Het |
| Ighv6-3 |
T |
A |
12: 114,355,475 (GRCm39) |
R71S |
probably benign |
Het |
| Itpr2 |
G |
C |
6: 146,212,585 (GRCm39) |
I1510M |
possibly damaging |
Het |
| Keap1 |
T |
C |
9: 21,145,134 (GRCm39) |
Q292R |
probably benign |
Het |
| Mab21l4 |
T |
C |
1: 93,082,237 (GRCm39) |
N294S |
probably benign |
Het |
| Malt1 |
A |
C |
18: 65,580,764 (GRCm39) |
E219D |
probably benign |
Het |
| Manba |
T |
C |
3: 135,228,915 (GRCm39) |
V279A |
possibly damaging |
Het |
| Map4k5 |
T |
A |
12: 69,921,095 (GRCm39) |
H41L |
probably benign |
Het |
| Mcm2 |
T |
G |
6: 88,868,776 (GRCm39) |
Y327S |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,215,484 (GRCm39) |
I503T |
possibly damaging |
Het |
| Nqo1 |
T |
C |
8: 108,119,279 (GRCm39) |
I99M |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,540,582 (GRCm39) |
H845R |
probably damaging |
Het |
| Otogl |
C |
T |
10: 107,599,061 (GRCm39) |
C2254Y |
probably damaging |
Het |
| Pmm1 |
T |
C |
15: 81,840,415 (GRCm39) |
N110S |
probably damaging |
Het |
| Poc1b |
G |
T |
10: 98,970,199 (GRCm39) |
C68F |
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,965,842 (GRCm39) |
Y828C |
possibly damaging |
Het |
| Prl3d1 |
A |
G |
13: 27,282,619 (GRCm39) |
H119R |
probably damaging |
Het |
| Pum3 |
A |
G |
19: 27,403,412 (GRCm39) |
S30P |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,194 (GRCm39) |
E196G |
possibly damaging |
Het |
| Sf3a3 |
A |
G |
4: 124,608,772 (GRCm39) |
K29E |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,092,311 (GRCm39) |
I475K |
probably damaging |
Het |
| Slc26a5 |
G |
T |
5: 22,042,244 (GRCm39) |
Y237* |
probably null |
Het |
| Slc7a14 |
C |
T |
3: 31,281,212 (GRCm39) |
G366D |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,107,110 (GRCm39) |
V482A |
probably benign |
Het |
| Tdrd5 |
G |
T |
1: 156,087,505 (GRCm39) |
Q883K |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,179,391 (GRCm39) |
Y1258C |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 6,028,131 (GRCm39) |
D739G |
unknown |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,820 (GRCm39) |
F78L |
probably benign |
Het |
| Vmn1r75 |
A |
T |
7: 11,614,915 (GRCm39) |
K216* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,201,281 (GRCm39) |
Y408N |
probably damaging |
Het |
| Wscd1 |
T |
A |
11: 71,679,543 (GRCm39) |
V472D |
probably damaging |
Het |
| Zdbf2 |
G |
T |
1: 63,345,664 (GRCm39) |
V1348F |
possibly damaging |
Het |
| Zfp442 |
G |
T |
2: 150,250,056 (GRCm39) |
H615Q |
possibly damaging |
Het |
| Zfp457 |
C |
A |
13: 67,442,065 (GRCm39) |
C170F |
possibly damaging |
Het |
| Zscan10 |
A |
G |
17: 23,826,003 (GRCm39) |
|
probably null |
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 |
|
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'- CTCTTGAGAGAAGAAGGCTGCC -3'
(R):5'- ACAGAATTTCCACATGTAGCTCC -3'
Sequencing Primer
(F):5'- GGCACTTGTGCACATATAGC -3'
(R):5'- GAATTTCCACATGTAGCTCCCAAGTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation