Incidental Mutation 'IGL02815:Farp2'
| ID |
360776 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02815
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93439826-93549698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 93488007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 78
(N78T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120301]
[ENSMUST00000122402]
|
| AlphaFold |
Q91VS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120301
AA Change: N78T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: N78T
| 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: N78T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: N78T
| 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 |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
A |
T |
6: 40,941,729 (GRCm39) |
I3F |
probably benign |
Het |
| Alms1 |
G |
A |
6: 85,644,939 (GRCm39) |
|
probably null |
Het |
| Ap3m1 |
T |
C |
14: 21,086,750 (GRCm39) |
D393G |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,528,299 (GRCm39) |
I363F |
probably damaging |
Het |
| Col19a1 |
T |
A |
1: 24,324,332 (GRCm39) |
|
probably null |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,954,226 (GRCm39) |
|
probably null |
Het |
| Emc2 |
T |
A |
15: 43,371,326 (GRCm39) |
|
probably benign |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,628 (GRCm39) |
S534P |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,411,857 (GRCm39) |
N106K |
probably benign |
Het |
| Gc |
A |
G |
5: 89,605,518 (GRCm39) |
|
probably null |
Het |
| Gemin5 |
T |
C |
11: 58,037,235 (GRCm39) |
Y660C |
probably damaging |
Het |
| Gfpt2 |
T |
A |
11: 49,714,084 (GRCm39) |
D280E |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,300,249 (GRCm39) |
E348G |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,741,037 (GRCm39) |
T1874M |
probably damaging |
Het |
| Klrb1b |
A |
G |
6: 128,797,937 (GRCm39) |
L52P |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,007,863 (GRCm39) |
|
probably benign |
Het |
| Med17 |
A |
C |
9: 15,173,563 (GRCm39) |
M637R |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,957,601 (GRCm39) |
L1454P |
probably damaging |
Het |
| Mysm1 |
A |
T |
4: 94,845,285 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,359,239 (GRCm39) |
T666A |
probably benign |
Het |
| Nbas |
T |
A |
12: 13,360,267 (GRCm39) |
S348T |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,686,797 (GRCm39) |
K1226M |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,176,753 (GRCm39) |
|
probably benign |
Het |
| Pigr |
T |
A |
1: 130,769,558 (GRCm39) |
V123D |
probably damaging |
Het |
| Pilra |
G |
A |
5: 137,829,567 (GRCm39) |
P163S |
probably benign |
Het |
| Plekha4 |
T |
C |
7: 45,187,836 (GRCm39) |
S303P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,094,265 (GRCm39) |
E549G |
probably damaging |
Het |
| Ptchd3 |
C |
T |
11: 121,732,430 (GRCm39) |
S440L |
probably benign |
Het |
| Rock2 |
A |
G |
12: 17,016,702 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,155,202 (GRCm39) |
S586P |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,338,979 (GRCm39) |
H95Q |
probably damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,874,678 (GRCm39) |
N952K |
possibly damaging |
Het |
| Stard10 |
T |
A |
7: 100,993,205 (GRCm39) |
C254S |
probably benign |
Het |
| Taar8a |
A |
T |
10: 23,953,278 (GRCm39) |
Y294F |
probably benign |
Het |
| Tm7sf3 |
A |
T |
6: 146,514,971 (GRCm39) |
|
probably null |
Het |
| Tnfrsf8 |
A |
T |
4: 145,025,348 (GRCm39) |
V75D |
possibly damaging |
Het |
| Tor1aip1 |
C |
T |
1: 155,911,662 (GRCm39) |
R107H |
probably damaging |
Het |
| Trpc4 |
C |
T |
3: 54,206,695 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,447,545 (GRCm39) |
L1885P |
possibly damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,990,856 (GRCm39) |
D835G |
possibly damaging |
Het |
| Zfp462 |
A |
T |
4: 55,051,303 (GRCm39) |
I1172F |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation