Incidental Mutation 'R4821:Farp2'
ID |
370192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Farp2
|
Ensembl Gene |
ENSMUSG00000034066 |
Gene Name |
FERM, RhoGEF and pleckstrin domain protein 2 |
Synonyms |
Fir, D030026M03Rik |
MMRRC Submission |
042437-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4821 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
93439826-93549698 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 93502192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120301]
[ENSMUST00000122402]
|
AlphaFold |
Q91VS8 |
Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000122402
|
SMART Domains |
Protein: ENSMUSP00000113790 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
|
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
Validation Efficiency |
100% (79/79) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,092,871 (GRCm39) |
K150R |
probably damaging |
Het |
Aak1 |
T |
C |
6: 86,827,171 (GRCm39) |
V46A |
probably damaging |
Het |
Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
Acaca |
A |
G |
11: 84,185,813 (GRCm39) |
D116G |
possibly damaging |
Het |
Adam33 |
G |
A |
2: 130,903,115 (GRCm39) |
P43L |
probably benign |
Het |
Adamtsl2 |
T |
A |
2: 26,988,604 (GRCm39) |
|
probably null |
Het |
Akap13 |
A |
G |
7: 75,327,255 (GRCm39) |
|
probably benign |
Het |
Art1 |
T |
A |
7: 101,756,385 (GRCm39) |
L192Q |
probably damaging |
Het |
Baalc |
A |
G |
15: 38,796,575 (GRCm39) |
|
probably benign |
Het |
Baz2a |
A |
G |
10: 127,946,978 (GRCm39) |
E164G |
probably damaging |
Het |
Bcs1l |
A |
G |
1: 74,631,144 (GRCm39) |
I391V |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,673,386 (GRCm39) |
T497A |
probably damaging |
Het |
Cap2 |
C |
A |
13: 46,763,586 (GRCm39) |
T164N |
probably damaging |
Het |
Ccdc57 |
A |
G |
11: 120,751,225 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
T |
C |
12: 100,904,338 (GRCm39) |
N1120S |
probably benign |
Het |
Cfap210 |
T |
C |
2: 69,612,452 (GRCm39) |
E96G |
possibly damaging |
Het |
Chd7 |
T |
A |
4: 8,844,706 (GRCm39) |
V1605D |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,622,622 (GRCm39) |
|
probably benign |
Het |
Commd3 |
T |
C |
2: 18,677,339 (GRCm39) |
S22P |
probably benign |
Het |
Cpd |
T |
C |
11: 76,737,063 (GRCm39) |
I244V |
probably benign |
Het |
Cpeb2 |
C |
A |
5: 43,390,817 (GRCm39) |
|
probably benign |
Het |
Cyp2c65 |
A |
G |
19: 39,060,635 (GRCm39) |
D165G |
probably damaging |
Het |
Ddx1 |
T |
C |
12: 13,289,148 (GRCm39) |
Y152C |
probably damaging |
Het |
Dennd4a |
G |
A |
9: 64,804,531 (GRCm39) |
C1290Y |
possibly damaging |
Het |
Ebf4 |
G |
A |
2: 130,148,965 (GRCm39) |
M232I |
probably benign |
Het |
Frk |
T |
C |
10: 34,360,233 (GRCm39) |
V78A |
probably benign |
Het |
Gm5799 |
A |
G |
14: 43,782,098 (GRCm39) |
D90G |
probably damaging |
Het |
Gpr45 |
C |
G |
1: 43,069,613 (GRCm39) |
|
probably benign |
Het |
Hfm1 |
C |
T |
5: 107,002,606 (GRCm39) |
|
probably null |
Het |
Igkv4-57-1 |
T |
A |
6: 69,521,387 (GRCm39) |
D105V |
probably damaging |
Het |
Impdh2-ps |
A |
G |
8: 100,757,995 (GRCm39) |
|
noncoding transcript |
Het |
Kctd4 |
G |
A |
14: 76,200,217 (GRCm39) |
V63I |
probably benign |
Het |
Lcn6 |
T |
A |
2: 25,570,822 (GRCm39) |
L137M |
probably damaging |
Het |
Lonrf1 |
T |
C |
8: 36,687,126 (GRCm39) |
N737D |
probably benign |
Het |
Mcu |
C |
T |
10: 59,303,511 (GRCm39) |
V109M |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,039,500 (GRCm39) |
K186N |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,384,727 (GRCm39) |
D533G |
probably damaging |
Het |
Nae1 |
A |
C |
8: 105,246,416 (GRCm39) |
C294G |
probably damaging |
Het |
Ncapg2 |
T |
G |
12: 116,379,077 (GRCm39) |
H190Q |
probably damaging |
Het |
Nkx2-2 |
A |
T |
2: 147,027,763 (GRCm39) |
L59Q |
possibly damaging |
Het |
Nrxn3 |
C |
T |
12: 90,171,483 (GRCm39) |
T295I |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,897,652 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 58,931,293 (GRCm39) |
M5781K |
probably damaging |
Het |
Or11g24 |
A |
G |
14: 50,662,206 (GRCm39) |
T77A |
possibly damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,570 (GRCm39) |
|
noncoding transcript |
Het |
Or4z4 |
T |
A |
19: 12,076,110 (GRCm39) |
M298L |
probably benign |
Het |
Pcdhb6 |
C |
A |
18: 37,467,381 (GRCm39) |
P101T |
probably damaging |
Het |
Pot1b |
A |
G |
17: 55,979,885 (GRCm39) |
S324P |
possibly damaging |
Het |
Potefam1 |
T |
C |
2: 111,034,490 (GRCm39) |
|
probably null |
Het |
Ppcdc |
C |
T |
9: 57,342,194 (GRCm39) |
V43I |
probably benign |
Het |
Prr13 |
A |
T |
15: 102,369,120 (GRCm39) |
|
probably benign |
Het |
Rab10os |
T |
A |
12: 3,287,322 (GRCm39) |
|
noncoding transcript |
Het |
Rabgap1 |
T |
C |
2: 37,422,531 (GRCm39) |
S595P |
probably damaging |
Het |
Rap1gap |
T |
C |
4: 137,439,440 (GRCm39) |
S126P |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 83,114,185 (GRCm39) |
|
probably null |
Het |
Slc5a6 |
T |
A |
5: 31,194,228 (GRCm39) |
K610* |
probably null |
Het |
Sun5 |
C |
T |
2: 153,711,386 (GRCm39) |
V27I |
probably benign |
Het |
Tmco5b |
T |
C |
2: 113,120,102 (GRCm39) |
I126T |
probably benign |
Het |
Tmed7 |
G |
A |
18: 46,726,480 (GRCm39) |
Q92* |
probably null |
Het |
Trav7d-2 |
A |
G |
14: 52,921,885 (GRCm39) |
D98G |
probably benign |
Het |
Trbv16 |
T |
A |
6: 41,128,936 (GRCm39) |
L40Q |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,485,848 (GRCm39) |
V2986A |
probably benign |
Het |
Usp33 |
T |
C |
3: 152,064,310 (GRCm39) |
V58A |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,477,293 (GRCm39) |
M373L |
probably benign |
Het |
Ywhaq |
T |
C |
12: 21,467,512 (GRCm39) |
|
probably benign |
Het |
Zbbx |
G |
A |
3: 74,989,054 (GRCm39) |
H345Y |
possibly damaging |
Het |
Zfp346 |
G |
T |
13: 55,261,626 (GRCm39) |
|
probably benign |
Het |
Zfp616 |
C |
T |
11: 73,975,033 (GRCm39) |
A434V |
probably benign |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
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'- CATGTCACTTGACTTGCTAGGTTG -3'
(R):5'- AGCCTGCTGAATGGGAAAC -3'
Sequencing Primer
(F):5'- GGTTGCTTTTAAGGATGTAACCTACC -3'
(R):5'- AGAGCCTGATAGCTTACTCCAGAG -3'
|
Posted On |
2016-02-04 |