Incidental Mutation 'R5221:Farp2'
| ID |
402295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Farp2
|
| Ensembl Gene |
ENSMUSG00000034066 |
| Gene Name |
FERM, RhoGEF and pleckstrin domain protein 2 |
| Synonyms |
Fir, D030026M03Rik |
| MMRRC Submission |
042794-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5221 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93439826-93549698 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93504140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 306
(C306S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120301]
[ENSMUST00000122402]
|
| AlphaFold |
Q91VS8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120301
AA Change: C306S
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: C306S
| 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: C306S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: C306S
| 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 |
0.8880 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (53/54) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
T |
C |
3: 92,335,815 (GRCm39) |
I296V |
probably benign |
Het |
| Antkmt |
T |
C |
17: 26,010,613 (GRCm39) |
N67S |
possibly damaging |
Het |
| Arhgap26 |
T |
A |
18: 39,243,525 (GRCm39) |
Y134* |
probably null |
Het |
| Asap2 |
A |
G |
12: 21,263,191 (GRCm39) |
I269V |
probably benign |
Het |
| Bean1 |
A |
T |
8: 104,941,784 (GRCm39) |
D34V |
probably damaging |
Het |
| C8a |
C |
T |
4: 104,703,122 (GRCm39) |
V312M |
probably damaging |
Het |
| Ccser1 |
T |
C |
6: 61,289,075 (GRCm39) |
S413P |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,498,225 (GRCm39) |
N1678S |
probably benign |
Het |
| Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,457,071 (GRCm39) |
M148K |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,493,032 (GRCm39) |
V1828A |
probably damaging |
Het |
| Gm6457 |
T |
C |
18: 14,703,174 (GRCm39) |
|
noncoding transcript |
Het |
| Gmip |
T |
G |
8: 70,266,785 (GRCm39) |
V300G |
probably damaging |
Het |
| Gstp3 |
A |
G |
19: 4,107,607 (GRCm39) |
S186P |
probably damaging |
Het |
| Gvin-ps3 |
G |
C |
7: 105,683,181 (GRCm39) |
|
noncoding transcript |
Het |
| Kl |
G |
T |
5: 150,912,616 (GRCm39) |
L788F |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 41,002,994 (GRCm39) |
S1932A |
possibly damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,170,488 (GRCm39) |
T234A |
probably damaging |
Het |
| Mafa |
T |
A |
15: 75,618,891 (GRCm39) |
Q294L |
possibly damaging |
Het |
| Mesp2 |
C |
T |
7: 79,461,467 (GRCm39) |
T264I |
possibly damaging |
Het |
| Mindy4 |
A |
G |
6: 55,201,092 (GRCm39) |
Y259C |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2d3c |
A |
T |
7: 106,526,268 (GRCm39) |
S133T |
probably benign |
Het |
| Or5as1 |
T |
C |
2: 86,980,825 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5m13b |
A |
G |
2: 85,754,493 (GRCm39) |
N294D |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,493,148 (GRCm39) |
T192S |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,741,193 (GRCm39) |
|
probably null |
Het |
| Plxna1 |
T |
C |
6: 89,297,998 (GRCm39) |
D1760G |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,862,540 (GRCm39) |
D345E |
probably damaging |
Het |
| Ppp1r14a |
T |
A |
7: 28,988,926 (GRCm39) |
I56N |
probably damaging |
Het |
| Ppp1r1a |
G |
A |
15: 103,441,477 (GRCm39) |
P79S |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,082,305 (GRCm39) |
R1010H |
probably benign |
Het |
| Rai1 |
A |
G |
11: 60,081,423 (GRCm39) |
E1829G |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,986,935 (GRCm39) |
Y31H |
probably damaging |
Het |
| Rrh |
T |
C |
3: 129,609,280 (GRCm39) |
S69G |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,752,121 (GRCm39) |
|
probably null |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| Sltm |
T |
G |
9: 70,486,685 (GRCm39) |
L450R |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,439,404 (GRCm39) |
|
probably null |
Het |
| Tmem68 |
T |
C |
4: 3,560,561 (GRCm39) |
T208A |
possibly damaging |
Het |
| Tnc |
T |
A |
4: 63,911,534 (GRCm39) |
R1346* |
probably null |
Het |
| Tpbg |
T |
C |
9: 85,726,478 (GRCm39) |
L149P |
probably damaging |
Het |
| Trappc14 |
C |
T |
5: 138,260,502 (GRCm39) |
S308N |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,198,816 (GRCm39) |
Q585* |
probably null |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,085 (GRCm39) |
C733S |
probably damaging |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,672,684 (GRCm39) |
H106Q |
probably benign |
Het |
| Wscd1 |
G |
T |
11: 71,659,501 (GRCm39) |
G194W |
possibly damaging |
Het |
| Zfp354b |
A |
C |
11: 50,813,917 (GRCm39) |
I336S |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,016,887 (GRCm39) |
V870E |
possibly 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 |
|
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'- TCTAAGGCATGTGACACCATG -3'
(R):5'- ATACAATTACCTACCTAGCCTATGG -3'
Sequencing Primer
(F):5'- ATGTGACACCATGCCTGTATCTACG -3'
(R):5'- ATGGCACCTCCTCCCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation