Incidental Mutation 'R4551:Farp2'
| ID |
333930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Farp2
|
| Ensembl Gene |
ENSMUSG00000034066 |
| Gene Name |
FERM, RhoGEF and pleckstrin domain protein 2 |
| Synonyms |
Fir, D030026M03Rik |
| MMRRC Submission |
041782-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4551 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93439826-93549698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93546314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 868
(L868Q)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000120301
AA Change: L868Q
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: L868Q
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (71/71) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
G |
11: 119,902,395 (GRCm39) |
E610A |
probably benign |
Het |
| Abhd17b |
T |
C |
19: 21,658,290 (GRCm39) |
S176P |
possibly damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,568,375 (GRCm39) |
Y427H |
probably damaging |
Het |
| Alox15 |
T |
A |
11: 70,235,422 (GRCm39) |
I647L |
probably benign |
Het |
| Ankhd1 |
C |
A |
18: 36,788,560 (GRCm39) |
|
probably null |
Het |
| Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
| Armcx5 |
T |
A |
X: 134,647,256 (GRCm39) |
V444D |
probably damaging |
Het |
| C4bp |
A |
G |
1: 130,564,464 (GRCm39) |
Y407H |
possibly damaging |
Het |
| Cog6 |
T |
A |
3: 52,905,741 (GRCm39) |
E96V |
probably damaging |
Het |
| Cox20 |
A |
C |
1: 178,150,114 (GRCm39) |
N96T |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,273,934 (GRCm39) |
I351V |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,702,712 (GRCm39) |
G552D |
probably damaging |
Het |
| Cyld |
A |
G |
8: 89,433,762 (GRCm39) |
K184E |
possibly damaging |
Het |
| Dab2 |
G |
A |
15: 6,464,775 (GRCm39) |
G324D |
probably damaging |
Het |
| Depdc1a |
T |
A |
3: 159,228,221 (GRCm39) |
D324E |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,732,192 (GRCm39) |
E4238G |
probably damaging |
Het |
| Dync1i1 |
T |
A |
6: 5,923,206 (GRCm39) |
D275E |
probably benign |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Gpr45 |
A |
G |
1: 43,071,950 (GRCm39) |
T198A |
probably benign |
Het |
| Grk2 |
C |
T |
19: 4,336,084 (GRCm39) |
V402M |
possibly damaging |
Het |
| Gsap |
A |
T |
5: 21,495,569 (GRCm39) |
D79V |
probably damaging |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,482 (GRCm39) |
|
probably benign |
Het |
| Hus1b |
C |
A |
13: 31,131,059 (GRCm39) |
S200I |
probably damaging |
Het |
| Hypk |
A |
G |
2: 121,283,961 (GRCm39) |
|
probably null |
Het |
| Ikbke |
T |
C |
1: 131,185,770 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,711,516 (GRCm39) |
E670G |
probably damaging |
Het |
| Kif26b |
T |
A |
1: 178,711,600 (GRCm39) |
I740N |
probably damaging |
Het |
| Lhx3 |
G |
A |
2: 26,091,202 (GRCm39) |
P369L |
probably damaging |
Het |
| Man2c1 |
T |
C |
9: 57,038,445 (GRCm39) |
L35P |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,981,123 (GRCm39) |
S366T |
possibly damaging |
Het |
| Mroh9 |
A |
T |
1: 162,871,662 (GRCm39) |
I607N |
probably damaging |
Het |
| Mybphl |
T |
C |
3: 108,281,479 (GRCm39) |
I65T |
possibly damaging |
Het |
| Myo1g |
A |
G |
11: 6,467,874 (GRCm39) |
I187T |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,118,161 (GRCm39) |
S822G |
probably benign |
Het |
| Nkx2-4 |
C |
A |
2: 146,926,842 (GRCm39) |
A142S |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odf4 |
C |
T |
11: 68,812,866 (GRCm39) |
S264N |
probably benign |
Het |
| Or12k7 |
G |
T |
2: 36,958,355 (GRCm39) |
V13L |
probably benign |
Het |
| Or13a17 |
A |
T |
7: 140,271,655 (GRCm39) |
Y279F |
probably damaging |
Het |
| Or56b1 |
A |
T |
7: 104,285,631 (GRCm39) |
H250L |
probably damaging |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,929,564 (GRCm39) |
Q428L |
possibly damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,887 (GRCm39) |
F616L |
probably damaging |
Het |
| Pdk3 |
A |
T |
X: 92,825,846 (GRCm39) |
M253K |
probably damaging |
Het |
| Pgap2 |
C |
A |
7: 101,875,674 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,414,281 (GRCm39) |
N2849K |
probably damaging |
Het |
| Pprc1 |
A |
G |
19: 46,055,664 (GRCm39) |
|
probably benign |
Het |
| Psma2 |
A |
G |
13: 14,791,430 (GRCm39) |
Y25C |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptpn5 |
C |
A |
7: 46,740,600 (GRCm39) |
|
probably benign |
Het |
| Pxn |
G |
T |
5: 115,690,779 (GRCm39) |
|
probably benign |
Het |
| Scd3 |
C |
A |
19: 44,203,878 (GRCm39) |
A22E |
probably benign |
Het |
| Sdr42e1 |
T |
C |
8: 118,390,347 (GRCm39) |
E98G |
probably benign |
Het |
| Slc14a2 |
A |
C |
18: 78,239,068 (GRCm39) |
S184A |
probably benign |
Het |
| Tmem236 |
A |
T |
2: 14,223,964 (GRCm39) |
Q251L |
probably benign |
Het |
| Trappc8 |
T |
C |
18: 21,007,729 (GRCm39) |
T129A |
probably benign |
Het |
| Vmn1r90 |
A |
C |
7: 14,295,894 (GRCm39) |
M68R |
possibly damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,446,613 (GRCm39) |
V462A |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,110 (GRCm39) |
T816A |
possibly damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,104,241 (GRCm39) |
I288K |
possibly damaging |
Het |
| Zfp180 |
A |
C |
7: 23,803,998 (GRCm39) |
K139T |
possibly damaging |
Het |
| Zfp932 |
T |
C |
5: 110,157,505 (GRCm39) |
V401A |
probably benign |
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 |
|
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'- GACCTGTCCCCTGATTCAAAG -3'
(R):5'- ACAGCCAGACAAAATCATGGTG -3'
Sequencing Primer
(F):5'- TGTCCCCTGATTCAAAGGACAGG -3'
(R):5'- AGAACTCTTCTACCTAGGCATGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation