Incidental Mutation 'R4723:Farp2'
ID |
354573 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Farp2
|
Ensembl Gene |
ENSMUSG00000034066 |
Gene Name |
FERM, RhoGEF and pleckstrin domain protein 2 |
Synonyms |
Fir, D030026M03Rik |
MMRRC Submission |
041959-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4723 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
93439826-93549698 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93508621 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 773
(V773A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120301]
[ENSMUST00000122402]
|
AlphaFold |
Q91VS8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000120301
|
SMART Domains |
Protein: ENSMUSP00000112725 Gene: ENSMUSG00000034066
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 benign
Transcript: ENSMUST00000122402
AA Change: V773A
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000113790 Gene: ENSMUSG00000034066 AA Change: V773A
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 |
|
Meta Mutation Damage Score |
0.0607 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
94% (77/82) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,581,644 (GRCm39) |
D4800G |
probably benign |
Het |
Akna |
T |
C |
4: 63,305,269 (GRCm39) |
D499G |
probably benign |
Het |
Arid1b |
A |
C |
17: 5,387,565 (GRCm39) |
I1673L |
probably benign |
Het |
Bcr |
T |
A |
10: 75,011,161 (GRCm39) |
M24K |
probably benign |
Het |
Bsn |
A |
G |
9: 107,989,854 (GRCm39) |
V1966A |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,867,227 (GRCm39) |
N928S |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdc6 |
G |
A |
11: 98,799,657 (GRCm39) |
|
probably null |
Het |
Cfap97d2 |
A |
T |
8: 13,785,937 (GRCm39) |
N69I |
probably damaging |
Het |
Cmtm1 |
C |
T |
8: 105,020,307 (GRCm39) |
A371T |
probably damaging |
Het |
Cmtm7 |
A |
C |
9: 114,592,459 (GRCm39) |
V46G |
possibly damaging |
Het |
Cmtr1 |
A |
G |
17: 29,906,131 (GRCm39) |
|
probably null |
Het |
Col5a3 |
T |
C |
9: 20,720,887 (GRCm39) |
H149R |
unknown |
Het |
Coro7 |
T |
G |
16: 4,449,858 (GRCm39) |
Q634P |
probably benign |
Het |
Crym |
A |
G |
7: 119,800,298 (GRCm39) |
|
probably null |
Het |
Csmd3 |
A |
T |
15: 47,532,556 (GRCm39) |
F2546L |
probably benign |
Het |
Dmap1 |
T |
C |
4: 117,533,236 (GRCm39) |
T273A |
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,994,899 (GRCm39) |
Y2786C |
probably damaging |
Het |
Echs1 |
A |
C |
7: 139,690,561 (GRCm39) |
|
probably benign |
Het |
Edem3 |
T |
A |
1: 151,680,449 (GRCm39) |
F525I |
possibly damaging |
Het |
Exosc3 |
T |
C |
4: 45,319,642 (GRCm39) |
I127V |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,578,130 (GRCm39) |
D208G |
probably benign |
Het |
Gas6 |
A |
G |
8: 13,516,848 (GRCm39) |
V550A |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm2423 |
A |
G |
13: 13,406,961 (GRCm39) |
|
noncoding transcript |
Het |
Grin1 |
T |
C |
2: 25,184,482 (GRCm39) |
S911G |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,236,133 (GRCm39) |
I470V |
probably benign |
Het |
Hsdl2 |
T |
A |
4: 59,593,270 (GRCm39) |
|
probably benign |
Het |
Iars2 |
A |
G |
1: 185,048,176 (GRCm39) |
Y519H |
probably damaging |
Het |
Ikbkb |
A |
T |
8: 23,159,623 (GRCm39) |
M455K |
probably benign |
Het |
Keap1 |
G |
T |
9: 21,142,706 (GRCm39) |
H516Q |
probably benign |
Het |
Klk1b27 |
A |
T |
7: 43,705,956 (GRCm39) |
I220F |
probably damaging |
Het |
Knop1 |
G |
A |
7: 118,455,087 (GRCm39) |
|
probably benign |
Het |
Lhcgr |
T |
C |
17: 89,050,030 (GRCm39) |
T499A |
probably benign |
Het |
Lrch3 |
A |
T |
16: 32,808,854 (GRCm39) |
|
probably null |
Het |
Lrrc2 |
G |
A |
9: 110,799,228 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
C |
15: 91,648,962 (GRCm39) |
L1652P |
probably damaging |
Het |
Mbl1 |
T |
C |
14: 40,876,515 (GRCm39) |
V71A |
possibly damaging |
Het |
Med8 |
T |
A |
4: 118,268,998 (GRCm39) |
M1K |
probably null |
Het |
Mfsd2b |
A |
G |
12: 4,918,992 (GRCm39) |
L88P |
probably benign |
Het |
Mkrn2 |
T |
A |
6: 115,588,811 (GRCm39) |
C185S |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,670,667 (GRCm39) |
|
probably benign |
Het |
Napg |
T |
G |
18: 63,125,563 (GRCm39) |
|
probably null |
Het |
Ncor1 |
A |
G |
11: 62,269,438 (GRCm39) |
M253T |
probably benign |
Het |
Oas3 |
T |
C |
5: 120,904,321 (GRCm39) |
T518A |
unknown |
Het |
Obox3-ps8 |
A |
G |
17: 36,764,036 (GRCm39) |
|
noncoding transcript |
Het |
Opn5 |
A |
T |
17: 42,918,091 (GRCm39) |
M57K |
probably damaging |
Het |
Or10a3n |
A |
T |
7: 108,493,028 (GRCm39) |
F195L |
probably benign |
Het |
Or13j1 |
T |
C |
4: 43,705,785 (GRCm39) |
K261R |
probably damaging |
Het |
Or52p1 |
T |
C |
7: 104,267,696 (GRCm39) |
V270A |
possibly damaging |
Het |
Pde2a |
C |
G |
7: 101,143,825 (GRCm39) |
P148R |
possibly damaging |
Het |
Prss56 |
C |
T |
1: 87,113,059 (GRCm39) |
L158F |
possibly damaging |
Het |
Psmg3 |
G |
A |
5: 139,812,125 (GRCm39) |
|
probably benign |
Het |
Rnase9 |
C |
T |
14: 51,276,901 (GRCm39) |
G26R |
probably damaging |
Het |
Skint4 |
T |
C |
4: 111,975,433 (GRCm39) |
V131A |
possibly damaging |
Het |
Slc10a4 |
T |
A |
5: 73,169,398 (GRCm39) |
V341E |
probably damaging |
Het |
Slc16a14 |
T |
C |
1: 84,890,741 (GRCm39) |
Y188C |
probably damaging |
Het |
Slc7a1 |
G |
T |
5: 148,272,250 (GRCm39) |
P476T |
probably damaging |
Het |
Smchd1 |
A |
T |
17: 71,743,742 (GRCm39) |
C474* |
probably null |
Het |
Smurf1 |
A |
T |
5: 144,829,994 (GRCm39) |
D336E |
probably damaging |
Het |
Sox30 |
G |
A |
11: 45,875,592 (GRCm39) |
S448N |
probably benign |
Het |
Spag11a |
G |
A |
8: 19,209,398 (GRCm39) |
V63I |
possibly damaging |
Het |
Sprr1b |
T |
G |
3: 92,344,600 (GRCm39) |
K92T |
probably damaging |
Het |
Stam2 |
T |
C |
2: 52,610,962 (GRCm39) |
Y20C |
probably benign |
Het |
Sult2b1 |
T |
A |
7: 45,391,489 (GRCm39) |
Y97F |
probably damaging |
Het |
Tecpr2 |
C |
T |
12: 110,899,410 (GRCm39) |
P593S |
probably benign |
Het |
Tek |
T |
C |
4: 94,687,397 (GRCm39) |
V170A |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,500,592 (GRCm39) |
Y891C |
probably benign |
Het |
Tmem220 |
A |
G |
11: 66,920,819 (GRCm39) |
T75A |
possibly damaging |
Het |
Traf3 |
T |
G |
12: 111,228,470 (GRCm39) |
D560E |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,675,015 (GRCm39) |
H56R |
probably benign |
Het |
Vmn2r98 |
A |
T |
17: 19,286,602 (GRCm39) |
N367Y |
probably benign |
Het |
Vnn3 |
A |
G |
10: 23,727,589 (GRCm39) |
I36M |
possibly damaging |
Het |
Zbtb7a |
G |
A |
10: 80,980,274 (GRCm39) |
R156H |
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 |
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'- CTCCATGGTCAACTTCCCAG -3'
(R):5'- CACTCCACATGAGAGCTTTAATTCC -3'
Sequencing Primer
(F):5'- ATGGTCAACTTCCCAGCCTGC -3'
(R):5'- CCACATGAGAGCTTTAATTCCTTAAC -3'
|
Posted On |
2015-10-21 |