Incidental Mutation 'R7503:Farp2'
| ID |
581594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Farp2
|
| Ensembl Gene |
ENSMUSG00000034066 |
| Gene Name |
FERM, RhoGEF and pleckstrin domain protein 2 |
| Synonyms |
Fir, D030026M03Rik |
| MMRRC Submission |
045576-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7503 (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 G
at 93495219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 164
(I164R)
|
| 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 benign
Transcript: ENSMUST00000120301
AA Change: I164R
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: I164R
| 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 |
possibly damaging
Transcript: ENSMUST00000122402
AA Change: I164R
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: I164R
| 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: 99.7%
- 20x: 98.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
G |
A |
8: 12,329,554 (GRCm39) |
G3D |
unknown |
Het |
| Aif1 |
A |
T |
17: 35,390,549 (GRCm39) |
I67N |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,749,441 (GRCm39) |
D982G |
|
Het |
| Anpep |
A |
G |
7: 79,476,385 (GRCm39) |
L827P |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,933 (GRCm39) |
K561N |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,158,493 (GRCm39) |
F24S |
probably benign |
Het |
| Bard1 |
T |
C |
1: 71,069,995 (GRCm39) |
D661G |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,783,056 (GRCm39) |
I618V |
unknown |
Het |
| Cfap251 |
G |
T |
5: 123,435,521 (GRCm39) |
E994* |
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,723,298 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
T |
A |
1: 139,758,952 (GRCm39) |
I33F |
probably damaging |
Het |
| Dsc1 |
G |
A |
18: 20,218,922 (GRCm39) |
H827Y |
probably damaging |
Het |
| Eif3i |
C |
T |
4: 129,494,207 (GRCm39) |
D31N |
probably damaging |
Het |
| Eno1b |
A |
T |
18: 48,179,878 (GRCm39) |
T19S |
probably damaging |
Het |
| Eva1a |
G |
A |
6: 82,048,210 (GRCm39) |
W29* |
probably null |
Het |
| Evc |
T |
C |
5: 37,458,111 (GRCm39) |
K803R |
unknown |
Het |
| F5 |
T |
A |
1: 164,019,779 (GRCm39) |
N751K |
probably damaging |
Het |
| Fam120a |
A |
T |
13: 49,102,723 (GRCm39) |
N177K |
probably benign |
Het |
| Gm20379 |
C |
T |
13: 92,442,565 (GRCm39) |
P26L |
|
Het |
| Hmgcs2 |
T |
C |
3: 98,209,940 (GRCm39) |
S433P |
probably damaging |
Het |
| Inava |
T |
C |
1: 136,143,675 (GRCm39) |
D587G |
possibly damaging |
Het |
| Ints2 |
T |
C |
11: 86,122,881 (GRCm39) |
T633A |
probably benign |
Het |
| Invs |
C |
T |
4: 48,396,347 (GRCm39) |
T340M |
probably damaging |
Het |
| Mef2c |
A |
C |
13: 83,810,623 (GRCm39) |
D391A |
possibly damaging |
Het |
| Msh4 |
A |
C |
3: 153,573,387 (GRCm39) |
S756A |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,080,218 (GRCm39) |
T490A |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,815,761 (GRCm39) |
|
probably null |
Het |
| Nsmce1 |
A |
G |
7: 125,071,106 (GRCm39) |
S107P |
probably benign |
Het |
| Or52a24 |
T |
A |
7: 103,381,474 (GRCm39) |
S114T |
probably damaging |
Het |
| Or5d43 |
T |
C |
2: 88,105,039 (GRCm39) |
Y118C |
probably damaging |
Het |
| Pcdhb21 |
G |
A |
18: 37,648,028 (GRCm39) |
D386N |
probably benign |
Het |
| Pcdhb22 |
T |
G |
18: 37,652,155 (GRCm39) |
L208V |
probably benign |
Het |
| Pigu |
C |
T |
2: 155,173,064 (GRCm39) |
|
probably null |
Het |
| Plcz1 |
T |
A |
6: 139,936,474 (GRCm39) |
E585V |
probably damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,873,544 (GRCm39) |
C183* |
probably null |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,949 (GRCm39) |
V133A |
possibly damaging |
Het |
| Prl3d3 |
A |
G |
13: 27,345,096 (GRCm39) |
Y156C |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,100,167 (GRCm39) |
D280G |
probably benign |
Het |
| Recql5 |
C |
A |
11: 115,785,881 (GRCm39) |
A631S |
probably benign |
Het |
| Runx3 |
C |
A |
4: 134,882,679 (GRCm39) |
N138K |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,715,038 (GRCm39) |
D750G |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,847,853 (GRCm39) |
L347P |
probably damaging |
Het |
| Slc25a1 |
G |
T |
16: 17,744,303 (GRCm39) |
Y209* |
probably null |
Het |
| Smad2 |
A |
G |
18: 76,419,956 (GRCm39) |
S88G |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,141,490 (GRCm39) |
C1125R |
probably benign |
Het |
| Spata21 |
T |
A |
4: 140,822,614 (GRCm39) |
I140N |
probably benign |
Het |
| Speer3 |
A |
T |
5: 13,843,348 (GRCm39) |
D85V |
probably benign |
Het |
| Spopfm1 |
A |
T |
3: 94,173,780 (GRCm39) |
M259L |
probably benign |
Het |
| Stra6 |
A |
G |
9: 58,058,528 (GRCm39) |
N463S |
possibly damaging |
Het |
| Tmem14a |
T |
G |
1: 21,299,623 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
T |
A |
2: 28,577,088 (GRCm39) |
L1130Q |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,611,401 (GRCm39) |
D17377G |
possibly damaging |
Het |
| Utf1 |
A |
G |
7: 139,524,046 (GRCm39) |
D87G |
probably damaging |
Het |
| Vmn2r6 |
G |
A |
3: 64,447,372 (GRCm39) |
Q565* |
probably null |
Het |
| Vmn2r63 |
A |
T |
7: 42,583,014 (GRCm39) |
M67K |
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,933,510 (GRCm39) |
Y357H |
not run |
Het |
| Vmn2r97 |
A |
G |
17: 19,148,470 (GRCm39) |
T122A |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,488,248 (GRCm39) |
E753G |
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,204,834 (GRCm39) |
N213S |
probably benign |
Het |
| Xdh |
A |
C |
17: 74,233,205 (GRCm39) |
D207E |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,554,678 (GRCm39) |
I552N |
possibly damaging |
Het |
| Zzef1 |
T |
A |
11: 72,716,893 (GRCm39) |
I361K |
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 |
|
|
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'- AGTGTTGCTGCTTCCCAGAG -3'
(R):5'- TGTAACTTGAGTCTATATGCAGAGC -3'
Sequencing Primer
(F):5'- GCTGCTTCCCAGAGCTTGTG -3'
(R):5'- GGCGTGTCAATTACTCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation