Incidental Mutation 'R5511:Farp1'
| ID |
431252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Farp1
|
| Ensembl Gene |
ENSMUSG00000025555 |
| Gene Name |
FERM, ARH/RhoGEF and pleckstrin domain protein 1 |
| Synonyms |
Cdep |
| MMRRC Submission |
043072-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5511 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
121272612-121521156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121474584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 266
(V266L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026635]
[ENSMUST00000135010]
|
| AlphaFold |
F8VPU2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026635
AA Change: V266L
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000026635
Gene: ENSMUSG00000025555
AA Change: V266L
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
36 |
230 |
3.27e-68 |
SMART |
|
FERM_C
|
234 |
324 |
3.87e-32 |
SMART |
|
FA
|
328 |
374 |
6.07e-16 |
SMART |
|
RhoGEF
|
546 |
732 |
2.07e-47 |
SMART |
|
PH
|
763 |
861 |
1.05e-16 |
SMART |
|
PH
|
936 |
1034 |
1.55e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135010
|
| SMART Domains |
Protein: ENSMUSP00000116985
Gene: ENSMUSG00000025555
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
36 |
210 |
3.4e-48 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153607
|
| Meta Mutation Damage Score |
0.3708 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.1%
- 20x: 90.3%
|
| Validation Efficiency |
98% (81/83) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,654,685 (GRCm39) |
L173P |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,582,209 (GRCm39) |
V271D |
possibly damaging |
Het |
| Alox15 |
G |
T |
11: 70,240,808 (GRCm39) |
P191T |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,890,254 (GRCm39) |
Y583C |
probably damaging |
Het |
| Aqp9 |
T |
A |
9: 71,070,375 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,365,848 (GRCm39) |
F1113L |
possibly damaging |
Het |
| Cap1 |
A |
C |
4: 122,756,583 (GRCm39) |
|
probably benign |
Het |
| Car11 |
T |
C |
7: 45,349,885 (GRCm39) |
W35R |
probably damaging |
Het |
| Casc3 |
T |
A |
11: 98,701,740 (GRCm39) |
Y91* |
probably null |
Het |
| Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
| Cd22 |
A |
T |
7: 30,569,496 (GRCm39) |
I540N |
probably damaging |
Het |
| Chad |
A |
T |
11: 94,456,072 (GRCm39) |
E50V |
probably damaging |
Het |
| Chd3 |
C |
G |
11: 69,252,301 (GRCm39) |
G34R |
probably damaging |
Het |
| Col9a1 |
T |
C |
1: 24,218,619 (GRCm39) |
V77A |
unknown |
Het |
| Copg1 |
G |
A |
6: 87,889,276 (GRCm39) |
V873M |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,363,363 (GRCm39) |
V3975E |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,728,703 (GRCm39) |
V1290D |
possibly damaging |
Het |
| Elp2 |
A |
T |
18: 24,745,507 (GRCm39) |
K150* |
probably null |
Het |
| Eri3 |
A |
C |
4: 117,472,386 (GRCm39) |
Y260S |
possibly damaging |
Het |
| Esrrg |
C |
T |
1: 187,943,304 (GRCm39) |
L426F |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,458,897 (GRCm39) |
E2459G |
probably damaging |
Het |
| Glis1 |
G |
A |
4: 107,293,074 (GRCm39) |
D66N |
probably damaging |
Het |
| Gm14129 |
T |
A |
2: 148,773,446 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28051 |
A |
G |
12: 102,686,415 (GRCm39) |
*82R |
probably null |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Gne |
C |
T |
4: 44,041,843 (GRCm39) |
V485M |
probably damaging |
Het |
| Lcn10 |
T |
A |
2: 25,572,841 (GRCm39) |
V15E |
probably benign |
Het |
| Mapk11 |
T |
A |
15: 89,029,380 (GRCm39) |
|
probably null |
Het |
| Me3 |
T |
G |
7: 89,455,876 (GRCm39) |
Y243D |
probably damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Myo1h |
T |
A |
5: 114,483,958 (GRCm39) |
L519* |
probably null |
Het |
| Myo9a |
T |
C |
9: 59,687,495 (GRCm39) |
V200A |
probably damaging |
Het |
| Mzf1 |
T |
A |
7: 12,785,526 (GRCm39) |
Q161H |
possibly damaging |
Het |
| Nim1k |
T |
G |
13: 120,189,130 (GRCm39) |
H93P |
probably damaging |
Het |
| Nkx6-1 |
C |
A |
5: 101,811,532 (GRCm39) |
R190L |
probably damaging |
Het |
| Noc3l |
A |
G |
19: 38,782,625 (GRCm39) |
V671A |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,460,543 (GRCm39) |
S2257P |
probably benign |
Het |
| Nup210 |
T |
A |
6: 91,003,945 (GRCm39) |
I648F |
probably damaging |
Het |
| Oplah |
T |
C |
15: 76,189,944 (GRCm39) |
E223G |
possibly damaging |
Het |
| Or5b120 |
T |
C |
19: 13,480,556 (GRCm39) |
M283T |
probably benign |
Het |
| Plekhs1 |
A |
C |
19: 56,474,224 (GRCm39) |
T457P |
probably damaging |
Het |
| Plppr4 |
G |
A |
3: 117,119,551 (GRCm39) |
T286I |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,068,037 (GRCm39) |
|
probably benign |
Het |
| Prss39 |
T |
A |
1: 34,541,878 (GRCm39) |
D318E |
possibly damaging |
Het |
| Psap |
A |
G |
10: 60,134,959 (GRCm39) |
E289G |
possibly damaging |
Het |
| Rad17 |
A |
G |
13: 100,764,157 (GRCm39) |
V438A |
possibly damaging |
Het |
| Raf1 |
T |
C |
6: 115,597,217 (GRCm39) |
S28G |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,329,561 (GRCm39) |
D2978G |
probably benign |
Het |
| Rnf170 |
T |
A |
8: 26,631,027 (GRCm39) |
D213E |
probably damaging |
Het |
| Rsph3a |
T |
A |
17: 8,164,905 (GRCm39) |
H88Q |
possibly damaging |
Het |
| Scd1 |
A |
G |
19: 44,395,198 (GRCm39) |
I9T |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,968,911 (GRCm39) |
|
probably benign |
Het |
| Slc14a1 |
C |
T |
18: 78,145,686 (GRCm39) |
S416N |
probably benign |
Het |
| Smok4a |
T |
C |
17: 13,746,474 (GRCm39) |
|
noncoding transcript |
Het |
| Sostdc1 |
A |
T |
12: 36,367,165 (GRCm39) |
I114F |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,202,375 (GRCm39) |
T2084I |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,244,149 (GRCm39) |
D295E |
unknown |
Het |
| Sptbn5 |
T |
C |
2: 119,890,202 (GRCm39) |
|
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,101,184 (GRCm39) |
|
probably benign |
Het |
| Tcea3 |
A |
T |
4: 135,998,683 (GRCm39) |
Y319F |
probably damaging |
Het |
| Timd4 |
T |
A |
11: 46,710,807 (GRCm39) |
|
probably null |
Het |
| Tmem88b |
G |
A |
4: 155,870,002 (GRCm39) |
P20S |
probably damaging |
Het |
| Tsen2 |
T |
A |
6: 115,538,365 (GRCm39) |
C281S |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,487,011 (GRCm39) |
T551A |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,474,832 (GRCm39) |
H732R |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,063,995 (GRCm39) |
|
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,836 (GRCm39) |
S1072P |
probably benign |
Het |
| Zfp148 |
A |
G |
16: 33,255,004 (GRCm39) |
|
probably benign |
Het |
| Zfp2 |
T |
A |
11: 50,790,851 (GRCm39) |
E397D |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,740,499 (GRCm39) |
F599L |
probably damaging |
Het |
|
| Other mutations in Farp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00584:Farp1
|
APN |
14 |
121,474,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01017:Farp1
|
APN |
14 |
121,510,186 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02309:Farp1
|
APN |
14 |
121,480,928 (GRCm39) |
missense |
probably benign |
|
|
IGL02376:Farp1
|
APN |
14 |
121,510,268 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03018:Farp1
|
APN |
14 |
121,339,581 (GRCm39) |
missense |
probably benign |
|
|
IGL03400:Farp1
|
APN |
14 |
121,444,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0034:Farp1
|
UTSW |
14 |
121,492,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0046:Farp1
|
UTSW |
14 |
121,492,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0046:Farp1
|
UTSW |
14 |
121,492,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0219:Farp1
|
UTSW |
14 |
121,481,012 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0359:Farp1
|
UTSW |
14 |
121,492,808 (GRCm39) |
splice site |
probably benign |
|
|
R0616:Farp1
|
UTSW |
14 |
121,514,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0653:Farp1
|
UTSW |
14 |
121,471,258 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0710:Farp1
|
UTSW |
14 |
121,474,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1391:Farp1
|
UTSW |
14 |
121,495,378 (GRCm39) |
nonsense |
probably null |
|
|
R1791:Farp1
|
UTSW |
14 |
121,494,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Farp1
|
UTSW |
14 |
121,492,908 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1953:Farp1
|
UTSW |
14 |
121,492,894 (GRCm39) |
missense |
probably benign |
|
|
R1958:Farp1
|
UTSW |
14 |
121,456,787 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2891:Farp1
|
UTSW |
14 |
121,494,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3121:Farp1
|
UTSW |
14 |
121,460,138 (GRCm39) |
splice site |
probably benign |
|
|
R4005:Farp1
|
UTSW |
14 |
121,513,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4257:Farp1
|
UTSW |
14 |
121,492,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4559:Farp1
|
UTSW |
14 |
121,510,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Farp1
|
UTSW |
14 |
121,513,716 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4739:Farp1
|
UTSW |
14 |
121,476,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Farp1
|
UTSW |
14 |
121,514,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4988:Farp1
|
UTSW |
14 |
121,513,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5379:Farp1
|
UTSW |
14 |
121,494,169 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5463:Farp1
|
UTSW |
14 |
121,472,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5466:Farp1
|
UTSW |
14 |
121,472,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5467:Farp1
|
UTSW |
14 |
121,472,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5520:Farp1
|
UTSW |
14 |
121,472,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Farp1
|
UTSW |
14 |
121,513,716 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5639:Farp1
|
UTSW |
14 |
121,512,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5954:Farp1
|
UTSW |
14 |
121,460,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6765:Farp1
|
UTSW |
14 |
121,460,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7469:Farp1
|
UTSW |
14 |
121,512,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7549:Farp1
|
UTSW |
14 |
121,472,589 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7660:Farp1
|
UTSW |
14 |
121,514,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7752:Farp1
|
UTSW |
14 |
121,495,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Farp1
|
UTSW |
14 |
121,513,665 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7911:Farp1
|
UTSW |
14 |
121,479,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Farp1
|
UTSW |
14 |
121,479,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8078:Farp1
|
UTSW |
14 |
121,513,712 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8113:Farp1
|
UTSW |
14 |
121,513,008 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8116:Farp1
|
UTSW |
14 |
121,471,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Farp1
|
UTSW |
14 |
121,479,855 (GRCm39) |
missense |
probably benign |
|
|
R9103:Farp1
|
UTSW |
14 |
121,509,104 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9190:Farp1
|
UTSW |
14 |
121,492,988 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9193:Farp1
|
UTSW |
14 |
121,518,281 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9581:Farp1
|
UTSW |
14 |
121,480,841 (GRCm39) |
missense |
probably benign |
0.09 |
|
RF024:Farp1
|
UTSW |
14 |
121,474,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGGCATGGTCTGAATG -3'
(R):5'- AATCCTCCTCGAGCACCTTTAG -3'
Sequencing Primer
(F):5'- GGTCTGAATGCCCAATTCTGTAAC -3'
(R):5'- CTTTAGAGGCCAGCTGCTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation