Incidental Mutation 'R7985:Farp2'
| ID |
651405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Farp2
|
| Ensembl Gene |
ENSMUSG00000034066 |
| Gene Name |
FERM, RhoGEF and pleckstrin domain protein 2 |
| Synonyms |
Fir, D030026M03Rik |
| MMRRC Submission |
046026-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7985 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93439826-93549698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93504246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 341
(F341S)
|
| 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: F341S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: F341S
| 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: F341S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: F341S
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (54/55) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,494,693 (GRCm39) |
S77R |
unknown |
Het |
| Adamts1 |
T |
C |
16: 85,595,002 (GRCm39) |
Y582C |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,745,398 (GRCm39) |
V683E |
|
Het |
| Allc |
T |
G |
12: 28,603,971 (GRCm39) |
T371P |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,191 (GRCm39) |
I1414T |
probably benign |
Het |
| Bahcc1 |
A |
G |
11: 120,163,717 (GRCm39) |
K672E |
probably damaging |
Het |
| C3ar1 |
A |
T |
6: 122,826,964 (GRCm39) |
S418T |
probably damaging |
Het |
| Calca |
A |
G |
7: 114,234,413 (GRCm39) |
V12A |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,734,409 (GRCm39) |
E410G |
probably benign |
Het |
| Cfh |
A |
G |
1: 140,036,564 (GRCm39) |
F680S |
probably damaging |
Het |
| Cracd |
T |
C |
5: 76,805,897 (GRCm39) |
V123A |
unknown |
Het |
| Csf3 |
G |
A |
11: 98,593,273 (GRCm39) |
G130D |
probably damaging |
Het |
| Cuedc1 |
A |
T |
11: 88,073,342 (GRCm39) |
Q169L |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,102,430 (GRCm39) |
W20R |
probably null |
Het |
| Dguok |
C |
T |
6: 83,457,914 (GRCm39) |
E240K |
probably damaging |
Het |
| Dlg1 |
T |
G |
16: 31,606,923 (GRCm39) |
Y220* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,557,886 (GRCm39) |
Y2176C |
probably damaging |
Het |
| Dnai1 |
T |
C |
4: 41,630,055 (GRCm39) |
I488T |
probably benign |
Het |
| Dock1 |
G |
T |
7: 134,348,683 (GRCm39) |
C299F |
possibly damaging |
Het |
| Ebi3 |
C |
T |
17: 56,260,997 (GRCm39) |
T59M |
probably benign |
Het |
| Esrp1 |
G |
A |
4: 11,367,153 (GRCm39) |
S160F |
probably benign |
Het |
| Evi5l |
A |
G |
8: 4,253,536 (GRCm39) |
D471G |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,143,798 (GRCm39) |
V2777A |
probably benign |
Het |
| Glcci1 |
T |
C |
6: 8,573,186 (GRCm39) |
I225T |
probably damaging |
Het |
| Gm3336 |
A |
G |
8: 71,173,176 (GRCm39) |
T63A |
unknown |
Het |
| Gm9767 |
A |
G |
10: 25,954,681 (GRCm39) |
T78A |
unknown |
Het |
| H2-T5 |
T |
G |
17: 36,478,445 (GRCm39) |
T168P |
probably damaging |
Het |
| Habp4 |
T |
A |
13: 64,323,860 (GRCm39) |
M261K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,814,992 (GRCm39) |
T2744A |
probably benign |
Het |
| Hlx |
A |
G |
1: 184,464,223 (GRCm39) |
V39A |
probably benign |
Het |
| Ifi204 |
G |
A |
1: 173,587,772 (GRCm39) |
T129I |
possibly damaging |
Het |
| Itfg1 |
A |
G |
8: 86,452,197 (GRCm39) |
I534T |
probably damaging |
Het |
| Klhl33 |
A |
T |
14: 51,128,962 (GRCm39) |
C496S |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,350,214 (GRCm39) |
V713D |
possibly damaging |
Het |
| Mon2 |
G |
T |
10: 122,852,213 (GRCm39) |
H1052Q |
probably damaging |
Het |
| Ndst2 |
T |
C |
14: 20,778,478 (GRCm39) |
|
probably null |
Het |
| Nphp1 |
A |
T |
2: 127,587,829 (GRCm39) |
M582K |
probably damaging |
Het |
| Nt5el |
C |
T |
13: 105,256,482 (GRCm39) |
T517I |
probably benign |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or2w3b |
A |
G |
11: 58,623,532 (GRCm39) |
V153A |
possibly damaging |
Het |
| Or8b47 |
T |
A |
9: 38,435,239 (GRCm39) |
D70E |
probably damaging |
Het |
| Padi2 |
A |
T |
4: 140,659,403 (GRCm39) |
H236L |
probably benign |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Psenen |
T |
C |
7: 30,261,503 (GRCm39) |
I75V |
probably benign |
Het |
| Pycr1 |
A |
T |
11: 120,533,746 (GRCm39) |
M37K |
probably benign |
Het |
| Rpl4 |
T |
A |
9: 64,085,212 (GRCm39) |
N317K |
probably damaging |
Het |
| Scart2 |
T |
A |
7: 139,876,806 (GRCm39) |
D732E |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,914,843 (GRCm39) |
|
probably null |
Het |
| Sdk1 |
A |
G |
5: 142,113,602 (GRCm39) |
T1550A |
probably damaging |
Het |
| Shisa6 |
G |
T |
11: 66,265,990 (GRCm39) |
T246K |
|
Het |
| Sis |
A |
T |
3: 72,844,294 (GRCm39) |
|
probably null |
Het |
| Slc22a14 |
A |
C |
9: 118,999,704 (GRCm39) |
S496A |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,361,767 (GRCm39) |
R351C |
probably damaging |
Het |
| Surf2 |
A |
G |
2: 26,809,288 (GRCm39) |
K202R |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,935,984 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
T |
A |
5: 87,239,983 (GRCm39) |
N134I |
probably damaging |
Het |
| Wdr97 |
T |
C |
15: 76,245,687 (GRCm39) |
V1308A |
|
Het |
| Xpr1 |
G |
A |
1: 155,188,641 (GRCm39) |
A333V |
possibly damaging |
Het |
| Zfp408 |
A |
T |
2: 91,476,776 (GRCm39) |
M126K |
probably benign |
Het |
| Zfy2 |
T |
C |
Y: 2,116,263 (GRCm39) |
Q259R |
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 |
|
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 |
|
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'- ATGACCTGCTTCTGGGCTTG -3'
(R):5'- GATGGCCCAATGTAAATAACTTGG -3'
Sequencing Primer
(F):5'- CTCCAGTACAGTATTATTGGACTTGC -3'
(R):5'- GCCCAATGTAAATAACTTGGATTTTC -3'
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| Posted On |
2020-09-15 |
Incidental Mutation