Incidental Mutation 'R7939:Farp2'
| ID |
648908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Farp2
|
| Ensembl Gene |
ENSMUSG00000034066 |
| Gene Name |
FERM, RhoGEF and pleckstrin domain protein 2 |
| Synonyms |
Fir, D030026M03Rik |
| MMRRC Submission |
045985-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7939 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
93439826-93549698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93487983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 70
(L70P)
|
| 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: L70P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: L70P
| 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 damaging
Transcript: ENSMUST00000122402
AA Change: L70P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: L70P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,275,433 (GRCm39) |
I415T |
probably damaging |
Het |
| Ackr3 |
A |
G |
1: 90,142,287 (GRCm39) |
S249G |
probably benign |
Het |
| Adgre1 |
G |
T |
17: 57,756,938 (GRCm39) |
A732S |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,448 (GRCm39) |
L4244* |
probably null |
Het |
| Aldh3a2 |
C |
A |
11: 61,115,424 (GRCm39) |
C511F |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,617,812 (GRCm39) |
H2013Q |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,740,206 (GRCm39) |
|
probably null |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Chtf18 |
A |
T |
17: 25,941,111 (GRCm39) |
I629N |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,439,158 (GRCm39) |
Y33C |
probably damaging |
Het |
| Cmc2 |
T |
C |
8: 117,616,513 (GRCm39) |
R71G |
unknown |
Het |
| Cts7 |
A |
T |
13: 61,504,364 (GRCm39) |
N66K |
probably damaging |
Het |
| Cysltr2 |
C |
T |
14: 73,267,399 (GRCm39) |
V104I |
possibly damaging |
Het |
| Dnai4 |
G |
A |
4: 102,953,798 (GRCm39) |
Q134* |
probably null |
Het |
| Dnm3 |
C |
T |
1: 162,123,165 (GRCm39) |
V460I |
possibly damaging |
Het |
| Ecel1 |
C |
T |
1: 87,077,256 (GRCm39) |
V651I |
probably benign |
Het |
| Ext2 |
G |
A |
2: 93,560,601 (GRCm39) |
R522C |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,093 (GRCm39) |
Y510H |
probably damaging |
Het |
| Gm15446 |
T |
C |
5: 110,090,360 (GRCm39) |
V204A |
probably benign |
Het |
| Gm29394 |
T |
C |
15: 57,912,046 (GRCm39) |
K53E |
unknown |
Het |
| Gm39115 |
T |
C |
7: 141,689,768 (GRCm39) |
T2A |
unknown |
Het |
| Helz2 |
A |
G |
2: 180,879,543 (GRCm39) |
W692R |
probably damaging |
Het |
| Htra2 |
A |
T |
6: 83,028,545 (GRCm39) |
Y428N |
probably damaging |
Het |
| Khdrbs2 |
T |
A |
1: 32,212,056 (GRCm39) |
S20T |
probably benign |
Het |
| Kifap3 |
C |
A |
1: 163,643,427 (GRCm39) |
Y217* |
probably null |
Het |
| Mast2 |
A |
T |
4: 116,287,668 (GRCm39) |
S136T |
probably benign |
Het |
| Mesp1 |
C |
T |
7: 79,442,734 (GRCm39) |
W181* |
probably null |
Het |
| Mtch1 |
A |
C |
17: 29,559,806 (GRCm39) |
S158A |
probably damaging |
Het |
| Mtmr10 |
C |
A |
7: 63,963,899 (GRCm39) |
S211R |
probably benign |
Het |
| Mtmr9 |
C |
A |
14: 63,771,973 (GRCm39) |
Q204H |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,097,182 (GRCm39) |
N43D |
|
Het |
| Myom3 |
G |
T |
4: 135,534,589 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,076,073 (GRCm39) |
D5903G |
probably damaging |
Het |
| Niban1 |
T |
G |
1: 151,581,775 (GRCm39) |
L457R |
probably damaging |
Het |
| Noxred1 |
A |
G |
12: 87,268,105 (GRCm39) |
V342A |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,012,933 (GRCm39) |
S421R |
probably benign |
Het |
| Or10a3 |
T |
C |
7: 108,480,481 (GRCm39) |
I111V |
probably benign |
Het |
| Or5p55 |
T |
A |
7: 107,566,986 (GRCm39) |
C127* |
probably null |
Het |
| Oxa1l |
T |
C |
14: 54,604,876 (GRCm39) |
C270R |
probably benign |
Het |
| Pcdha3 |
T |
A |
18: 37,080,933 (GRCm39) |
N558K |
probably damaging |
Het |
| Pcdha7 |
T |
C |
18: 37,109,063 (GRCm39) |
V696A |
possibly damaging |
Het |
| Pigl |
T |
C |
11: 62,349,506 (GRCm39) |
L74P |
probably damaging |
Het |
| Plch2 |
G |
T |
4: 155,087,235 (GRCm39) |
R339S |
possibly damaging |
Het |
| Prdm11 |
G |
T |
2: 92,843,074 (GRCm39) |
D128E |
probably damaging |
Het |
| Ptdss1 |
A |
G |
13: 67,143,411 (GRCm39) |
T415A |
probably benign |
Het |
| Ptprj |
A |
T |
2: 90,295,009 (GRCm39) |
W400R |
probably damaging |
Het |
| Qdpr |
T |
C |
5: 45,607,407 (GRCm39) |
Y13C |
probably damaging |
Het |
| Retsat |
G |
A |
6: 72,581,919 (GRCm39) |
M355I |
probably benign |
Het |
| Slc24a1 |
T |
G |
9: 64,835,648 (GRCm39) |
E826D |
probably benign |
Het |
| Taok3 |
T |
C |
5: 117,331,902 (GRCm39) |
F40L |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,299,519 (GRCm39) |
T190A |
probably damaging |
Het |
| Tmem220 |
C |
A |
11: 66,920,850 (GRCm39) |
T85K |
probably damaging |
Het |
| Traip |
T |
C |
9: 107,833,077 (GRCm39) |
F38L |
probably benign |
Het |
| Tspan1 |
A |
T |
4: 116,024,209 (GRCm39) |
I18N |
probably damaging |
Het |
| Ttc24 |
A |
T |
3: 87,981,945 (GRCm39) |
D40E |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,542,737 (GRCm39) |
Y33416* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,576,105 (GRCm39) |
D24929E |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,487,705 (GRCm39) |
S193T |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,651 (GRCm39) |
W300R |
probably damaging |
Het |
| Vps13a |
C |
T |
19: 16,718,155 (GRCm39) |
V522M |
possibly damaging |
Het |
| Wdr17 |
C |
A |
8: 55,140,677 (GRCm39) |
R232L |
probably damaging |
Het |
| Wtap |
A |
T |
17: 13,200,683 (GRCm39) |
Y33* |
probably null |
Het |
| Zc3h10 |
A |
T |
10: 128,380,376 (GRCm39) |
V327E |
probably damaging |
Het |
| Zfp658 |
T |
C |
7: 43,224,301 (GRCm39) |
S859P |
possibly damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,622 (GRCm39) |
C225* |
probably null |
Het |
| Zfp980 |
A |
T |
4: 145,428,582 (GRCm39) |
H437L |
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 |
|
|
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'- CTATAAATAGACTTCGGAATGCTGC -3'
(R):5'- AAGGCAGGTATGTTTCCCATAG -3'
Sequencing Primer
(F):5'- GCTGAAATTGAAAATGGTTGCTTTG -3'
(R):5'- TCTACAGCACAGTCAGAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation