Incidental Mutation 'R2137:Phactr1'
| ID |
235907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phactr1
|
| Ensembl Gene |
ENSMUSG00000054728 |
| Gene Name |
phosphatase and actin regulator 1 |
| Synonyms |
Rpel1, 9630030F18Rik |
| MMRRC Submission |
040140-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2137 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
42834099-43292002 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 43288651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 639
(F639V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066928]
[ENSMUST00000110161]
[ENSMUST00000128646]
[ENSMUST00000131942]
[ENSMUST00000149235]
[ENSMUST00000148891]
|
| AlphaFold |
Q2M3X8 |
| PDB Structure |
Structure of the Phactr1 RPEL domain and RPEL motif directed assemblies with G-actin reveal the molecular basis for actin binding cooperativity. [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-N domain bound to G-actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-2 domain bound to actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-2 bound to G-actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-3 bound to G-actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL domain bound to G-actin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066928
AA Change: F570V
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000066663
Gene: ENSMUSG00000054728
AA Change: F570V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
127 |
N/A |
INTRINSIC |
|
RPEL
|
131 |
156 |
7.33e-5 |
SMART |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
330 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
399 |
N/A |
INTRINSIC |
|
RPEL
|
415 |
440 |
1.23e-6 |
SMART |
|
RPEL
|
453 |
478 |
5.14e-9 |
SMART |
|
RPEL
|
491 |
516 |
2.71e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110161
AA Change: F646V
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000105790
Gene: ENSMUSG00000054728
AA Change: F646V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
134 |
N/A |
INTRINSIC |
|
RPEL
|
138 |
163 |
7.33e-5 |
SMART |
|
low complexity region
|
177 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
475 |
N/A |
INTRINSIC |
|
RPEL
|
491 |
516 |
1.23e-6 |
SMART |
|
RPEL
|
529 |
554 |
5.14e-9 |
SMART |
|
RPEL
|
567 |
592 |
2.71e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123987
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128646
AA Change: F577V
|
| SMART Domains |
Protein: ENSMUSP00000122232
Gene: ENSMUSG00000054728
AA Change: F577V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
134 |
N/A |
INTRINSIC |
|
RPEL
|
138 |
163 |
7.33e-5 |
SMART |
|
low complexity region
|
177 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
406 |
N/A |
INTRINSIC |
|
RPEL
|
422 |
447 |
1.23e-6 |
SMART |
|
RPEL
|
460 |
485 |
5.14e-9 |
SMART |
|
RPEL
|
498 |
523 |
2.71e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131942
AA Change: F554V
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000123346
Gene: ENSMUSG00000054728
AA Change: F554V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
RPEL
|
46 |
71 |
7.33e-5 |
SMART |
|
low complexity region
|
85 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
383 |
N/A |
INTRINSIC |
|
RPEL
|
399 |
424 |
1.23e-6 |
SMART |
|
RPEL
|
437 |
462 |
5.14e-9 |
SMART |
|
RPEL
|
475 |
500 |
2.71e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136576
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136951
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149235
AA Change: F577V
|
| SMART Domains |
Protein: ENSMUSP00000115207
Gene: ENSMUSG00000054728
AA Change: F577V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
134 |
N/A |
INTRINSIC |
|
RPEL
|
138 |
163 |
7.33e-5 |
SMART |
|
low complexity region
|
177 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
406 |
N/A |
INTRINSIC |
|
RPEL
|
422 |
447 |
1.23e-6 |
SMART |
|
RPEL
|
460 |
485 |
5.14e-9 |
SMART |
|
RPEL
|
498 |
523 |
2.71e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137434
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148891
AA Change: F639V
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115228
Gene: ENSMUSG00000054728
AA Change: F639V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
127 |
N/A |
INTRINSIC |
|
RPEL
|
131 |
156 |
7.33e-5 |
SMART |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
468 |
N/A |
INTRINSIC |
|
RPEL
|
484 |
509 |
1.23e-6 |
SMART |
|
RPEL
|
522 |
547 |
5.14e-9 |
SMART |
|
RPEL
|
560 |
585 |
2.71e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161201
|
| Meta Mutation Damage Score |
0.3744 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (60/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd24 |
C |
T |
10: 81,482,143 (GRCm39) |
T88I |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,364,675 (GRCm39) |
V49D |
probably damaging |
Het |
| Bub1b |
G |
T |
2: 118,467,199 (GRCm39) |
E841* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,027,836 (GRCm39) |
N527I |
probably damaging |
Het |
| Cdh22 |
G |
A |
2: 164,958,314 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,550,127 (GRCm39) |
L262P |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,797 (GRCm39) |
H120R |
possibly damaging |
Het |
| Col4a2 |
T |
C |
8: 11,483,749 (GRCm39) |
S890P |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,340,978 (GRCm39) |
I2248V |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,112,665 (GRCm39) |
E1675G |
probably damaging |
Het |
| Faiml |
G |
A |
9: 99,114,545 (GRCm39) |
P115S |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,915,745 (GRCm39) |
D62V |
possibly damaging |
Het |
| Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
| Galntl6 |
C |
T |
8: 58,988,939 (GRCm39) |
|
probably null |
Het |
| Glyr1 |
T |
C |
16: 4,836,346 (GRCm39) |
Y501C |
probably benign |
Het |
| Gm9847 |
G |
T |
12: 14,545,082 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
G |
9: 4,427,026 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
G |
2: 24,044,672 (GRCm39) |
N24S |
probably benign |
Het |
| Il6st |
C |
A |
13: 112,639,392 (GRCm39) |
H606N |
possibly damaging |
Het |
| Itprid1 |
A |
G |
6: 55,866,174 (GRCm39) |
Q189R |
probably damaging |
Het |
| Kctd10 |
A |
G |
5: 114,505,389 (GRCm39) |
F202L |
probably damaging |
Het |
| Kif17 |
T |
A |
4: 137,989,978 (GRCm39) |
D55E |
probably damaging |
Het |
| Klf1 |
C |
T |
8: 85,629,775 (GRCm39) |
A200V |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,629,275 (GRCm39) |
Y497* |
probably null |
Het |
| Kng2 |
G |
T |
16: 22,816,076 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
T |
C |
10: 7,577,611 (GRCm39) |
V245A |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
| Mss51 |
T |
C |
14: 20,537,591 (GRCm39) |
I47V |
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,827,861 (GRCm39) |
T19M |
probably benign |
Het |
| Nampt |
T |
A |
12: 32,880,309 (GRCm39) |
N67K |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,107,776 (GRCm39) |
I1607K |
probably damaging |
Het |
| Nudt4 |
T |
C |
10: 95,399,600 (GRCm39) |
Q7R |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,173 (GRCm39) |
Y130H |
probably damaging |
Het |
| Or5b121 |
T |
A |
19: 13,507,802 (GRCm39) |
I255N |
probably damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
| Pgm2 |
A |
T |
5: 64,273,709 (GRCm39) |
M565L |
probably benign |
Het |
| Plod3 |
C |
A |
5: 137,017,571 (GRCm39) |
R165S |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,468,193 (GRCm39) |
N164K |
probably benign |
Het |
| Rcbtb2 |
G |
A |
14: 73,399,491 (GRCm39) |
G52S |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,468,382 (GRCm39) |
|
probably null |
Het |
| Rheb |
A |
G |
5: 25,012,601 (GRCm39) |
|
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Ripor2 |
G |
A |
13: 24,905,817 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
A |
T |
9: 75,584,092 (GRCm39) |
D136E |
probably damaging |
Het |
| Slc10a4 |
C |
T |
5: 73,164,923 (GRCm39) |
L172F |
probably damaging |
Het |
| Slc35c2 |
A |
G |
2: 165,123,299 (GRCm39) |
Y113H |
probably damaging |
Het |
| Slc47a1 |
T |
A |
11: 61,235,318 (GRCm39) |
D505V |
probably benign |
Het |
| Snap29 |
C |
A |
16: 17,246,113 (GRCm39) |
D244E |
possibly damaging |
Het |
| Taar1 |
T |
C |
10: 23,797,168 (GRCm39) |
F289L |
probably benign |
Het |
| Thbs2 |
T |
A |
17: 14,893,568 (GRCm39) |
N871Y |
probably damaging |
Het |
| Tmem108 |
T |
A |
9: 103,377,162 (GRCm39) |
T96S |
possibly damaging |
Het |
| Tnk2 |
G |
T |
16: 32,489,620 (GRCm39) |
|
probably null |
Het |
| Trak1 |
T |
A |
9: 121,302,028 (GRCm39) |
M928K |
possibly damaging |
Het |
| Tuba3b |
A |
G |
6: 145,564,559 (GRCm39) |
I110V |
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,022,281 (GRCm39) |
|
probably benign |
Het |
| Ugt1a9 |
T |
A |
1: 87,998,759 (GRCm39) |
C70S |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,151,410 (GRCm39) |
I68K |
possibly damaging |
Het |
| Wfs1 |
T |
C |
5: 37,124,845 (GRCm39) |
E682G |
probably damaging |
Het |
| Zfp213 |
T |
C |
17: 23,778,481 (GRCm39) |
|
probably null |
Het |
| Zfp809 |
T |
C |
9: 22,146,434 (GRCm39) |
V41A |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,547,539 (GRCm39) |
K1574R |
possibly damaging |
Het |
|
| Other mutations in Phactr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Phactr1
|
APN |
13 |
43,110,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01144:Phactr1
|
APN |
13 |
43,191,000 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02193:Phactr1
|
APN |
13 |
42,863,176 (GRCm39) |
splice site |
probably benign |
|
|
IGL02691:Phactr1
|
APN |
13 |
43,231,213 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0028:Phactr1
|
UTSW |
13 |
43,210,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Phactr1
|
UTSW |
13 |
42,836,197 (GRCm39) |
nonsense |
probably null |
|
|
R0522:Phactr1
|
UTSW |
13 |
43,213,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1354:Phactr1
|
UTSW |
13 |
43,210,807 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1382:Phactr1
|
UTSW |
13 |
43,286,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Phactr1
|
UTSW |
13 |
43,248,466 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1620:Phactr1
|
UTSW |
13 |
43,248,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Phactr1
|
UTSW |
13 |
43,110,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Phactr1
|
UTSW |
13 |
43,248,257 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1679:Phactr1
|
UTSW |
13 |
43,210,756 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2055:Phactr1
|
UTSW |
13 |
43,231,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Phactr1
|
UTSW |
13 |
43,231,265 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2279:Phactr1
|
UTSW |
13 |
43,231,265 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3122:Phactr1
|
UTSW |
13 |
43,213,049 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4073:Phactr1
|
UTSW |
13 |
43,213,245 (GRCm39) |
intron |
probably benign |
|
|
R4131:Phactr1
|
UTSW |
13 |
43,190,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4237:Phactr1
|
UTSW |
13 |
43,248,363 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4238:Phactr1
|
UTSW |
13 |
43,248,363 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4239:Phactr1
|
UTSW |
13 |
43,248,363 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4240:Phactr1
|
UTSW |
13 |
43,248,363 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4507:Phactr1
|
UTSW |
13 |
43,250,270 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4602:Phactr1
|
UTSW |
13 |
43,248,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4914:Phactr1
|
UTSW |
13 |
43,287,439 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5382:Phactr1
|
UTSW |
13 |
43,288,695 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5882:Phactr1
|
UTSW |
13 |
42,863,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6253:Phactr1
|
UTSW |
13 |
43,248,247 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6451:Phactr1
|
UTSW |
13 |
43,286,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6808:Phactr1
|
UTSW |
13 |
43,286,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7061:Phactr1
|
UTSW |
13 |
43,286,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7847:Phactr1
|
UTSW |
13 |
43,210,664 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7912:Phactr1
|
UTSW |
13 |
42,863,239 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7937:Phactr1
|
UTSW |
13 |
43,231,205 (GRCm39) |
missense |
unknown |
|
|
R8344:Phactr1
|
UTSW |
13 |
42,863,297 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8494:Phactr1
|
UTSW |
13 |
43,250,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9164:Phactr1
|
UTSW |
13 |
42,836,178 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTCTTAGGTCTCTAGATGAGTTC -3'
(R):5'- TGCACACAGAATCCTGGCTG -3'
Sequencing Primer
(F):5'- AGATGAGTTCTGTGGAGTTTGAGAAC -3'
(R):5'- ACAGAATCCTGGCTGTGTTTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation