Incidental Mutation 'R5520:Farp1'
| ID |
431519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Farp1
|
| Ensembl Gene |
ENSMUSG00000025555 |
| Gene Name |
FERM, ARH/RhoGEF and pleckstrin domain protein 1 |
| Synonyms |
Cdep |
| MMRRC Submission |
043079-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
121272612-121521156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121472489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 208
(P208L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026635]
[ENSMUST00000135010]
|
| AlphaFold |
F8VPU2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026635
AA Change: P208L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026635
Gene: ENSMUSG00000025555
AA Change: P208L
| 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 damaging
Transcript: ENSMUST00000135010
AA Change: P208L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116985
Gene: ENSMUSG00000025555
AA Change: P208L
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
36 |
210 |
3.4e-48 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153607
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.8%
- 20x: 88.6%
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,594 (GRCm39) |
T186S |
probably benign |
Het |
| AI467606 |
C |
T |
7: 126,691,998 (GRCm39) |
P191L |
probably benign |
Het |
| Aoc1l1 |
C |
A |
6: 48,952,728 (GRCm39) |
Q218K |
possibly damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,440 (GRCm39) |
V56A |
probably damaging |
Het |
| Cacng5 |
T |
C |
11: 107,768,248 (GRCm39) |
Q253R |
probably benign |
Het |
| Cc2d1b |
T |
C |
4: 108,483,556 (GRCm39) |
M331T |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,224,730 (GRCm39) |
K153* |
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,827,147 (GRCm39) |
S111P |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,595,806 (GRCm39) |
E167G |
probably damaging |
Het |
| Edn1 |
T |
C |
13: 42,455,436 (GRCm39) |
|
probably null |
Het |
| Fbxw18 |
G |
T |
9: 109,520,589 (GRCm39) |
H257N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,146,414 (GRCm39) |
T22A |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,082,819 (GRCm39) |
M45K |
possibly damaging |
Het |
| Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
| Grk1 |
T |
A |
8: 13,459,305 (GRCm39) |
D285E |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,624,105 (GRCm39) |
D625V |
possibly damaging |
Het |
| Igkv1-135 |
C |
T |
6: 67,587,324 (GRCm39) |
P65L |
possibly damaging |
Het |
| Lepr |
T |
C |
4: 101,602,734 (GRCm39) |
L174P |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,901,872 (GRCm39) |
S689G |
probably benign |
Het |
| Or14c44 |
T |
A |
7: 86,062,064 (GRCm39) |
S165T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,753 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,284,367 (GRCm39) |
Y812H |
probably benign |
Het |
| Plxnb2 |
T |
G |
15: 89,051,746 (GRCm39) |
T158P |
possibly damaging |
Het |
| Pramel32 |
A |
C |
4: 88,548,277 (GRCm39) |
S43A |
probably damaging |
Het |
| R3hcc1 |
T |
A |
14: 69,936,057 (GRCm39) |
K437* |
probably null |
Het |
| Rnf213 |
C |
A |
11: 119,324,325 (GRCm39) |
H1428Q |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,646,509 (GRCm39) |
S79T |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,724,900 (GRCm39) |
N93K |
probably benign |
Het |
| Ssx2ip |
G |
A |
3: 146,143,066 (GRCm39) |
R548H |
probably benign |
Het |
| Trim23 |
C |
T |
13: 104,324,035 (GRCm39) |
R165C |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,698,970 (GRCm39) |
T405P |
probably damaging |
Het |
| Unkl |
G |
A |
17: 25,424,584 (GRCm39) |
V204I |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,728 (GRCm39) |
T253A |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,887 (GRCm39) |
I261V |
possibly 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 |
|
R5511:Farp1
|
UTSW |
14 |
121,474,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- CCGGGTAATAGGGCTTTTGTCC -3'
(R):5'- AGATCCACTAGAGGCCTTAGC -3'
Sequencing Primer
(F):5'- GTCCTCGCTGTGTGGCTC -3'
(R):5'- CCCACCCATGTTAACCTGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation