Incidental Mutation 'R4367:Phactr2'
ID |
325817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phactr2
|
Ensembl Gene |
ENSMUSG00000062866 |
Gene Name |
phosphatase and actin regulator 2 |
Synonyms |
|
MMRRC Submission |
041673-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4367 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
13083461-13350156 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13129564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 235
(S235P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101184
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079698]
[ENSMUST00000105543]
[ENSMUST00000105545]
[ENSMUST00000105546]
|
AlphaFold |
B1AVP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079698
AA Change: S165P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000078637 Gene: ENSMUSG00000062866 AA Change: S165P
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
RPEL
|
60 |
85 |
7.44e-6 |
SMART |
low complexity region
|
154 |
179 |
N/A |
INTRINSIC |
low complexity region
|
208 |
218 |
N/A |
INTRINSIC |
low complexity region
|
250 |
270 |
N/A |
INTRINSIC |
low complexity region
|
378 |
388 |
N/A |
INTRINSIC |
RPEL
|
403 |
428 |
5.81e-8 |
SMART |
RPEL
|
441 |
466 |
1.36e-8 |
SMART |
RPEL
|
479 |
504 |
1.64e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105543
AA Change: S172P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101182 Gene: ENSMUSG00000062866 AA Change: S172P
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
65 |
N/A |
INTRINSIC |
RPEL
|
71 |
96 |
7.44e-6 |
SMART |
low complexity region
|
165 |
190 |
N/A |
INTRINSIC |
low complexity region
|
219 |
229 |
N/A |
INTRINSIC |
low complexity region
|
261 |
281 |
N/A |
INTRINSIC |
low complexity region
|
389 |
399 |
N/A |
INTRINSIC |
RPEL
|
414 |
439 |
5.81e-8 |
SMART |
RPEL
|
452 |
477 |
1.36e-8 |
SMART |
RPEL
|
490 |
515 |
1.64e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105545
AA Change: S235P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101184 Gene: ENSMUSG00000062866 AA Change: S235P
Domain | Start | End | E-Value | Type |
low complexity region
|
50 |
65 |
N/A |
INTRINSIC |
RPEL
|
71 |
96 |
7.44e-6 |
SMART |
low complexity region
|
157 |
182 |
N/A |
INTRINSIC |
low complexity region
|
211 |
221 |
N/A |
INTRINSIC |
low complexity region
|
253 |
273 |
N/A |
INTRINSIC |
low complexity region
|
381 |
391 |
N/A |
INTRINSIC |
RPEL
|
406 |
431 |
5.81e-8 |
SMART |
RPEL
|
444 |
469 |
1.36e-8 |
SMART |
RPEL
|
482 |
507 |
1.64e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105546
AA Change: S241P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101185 Gene: ENSMUSG00000062866 AA Change: S241P
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
54 |
N/A |
INTRINSIC |
RPEL
|
60 |
85 |
7.44e-6 |
SMART |
low complexity region
|
133 |
144 |
N/A |
INTRINSIC |
low complexity region
|
149 |
184 |
N/A |
INTRINSIC |
low complexity region
|
199 |
213 |
N/A |
INTRINSIC |
low complexity region
|
226 |
251 |
N/A |
INTRINSIC |
low complexity region
|
280 |
290 |
N/A |
INTRINSIC |
low complexity region
|
322 |
342 |
N/A |
INTRINSIC |
low complexity region
|
450 |
460 |
N/A |
INTRINSIC |
RPEL
|
475 |
500 |
5.81e-8 |
SMART |
RPEL
|
513 |
538 |
1.36e-8 |
SMART |
RPEL
|
551 |
576 |
1.64e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105547
AA Change: S239P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101186 Gene: ENSMUSG00000062866 AA Change: S239P
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
36 |
N/A |
INTRINSIC |
low complexity region
|
50 |
65 |
N/A |
INTRINSIC |
low complexity region
|
109 |
124 |
N/A |
INTRINSIC |
RPEL
|
130 |
155 |
7.44e-6 |
SMART |
low complexity region
|
224 |
249 |
N/A |
INTRINSIC |
low complexity region
|
278 |
288 |
N/A |
INTRINSIC |
low complexity region
|
320 |
340 |
N/A |
INTRINSIC |
low complexity region
|
448 |
458 |
N/A |
INTRINSIC |
RPEL
|
473 |
498 |
5.81e-8 |
SMART |
RPEL
|
511 |
536 |
1.36e-8 |
SMART |
RPEL
|
549 |
574 |
1.64e-7 |
SMART |
|
Meta Mutation Damage Score |
0.0661 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrb2 |
T |
C |
18: 62,312,127 (GRCm39) |
I233V |
probably damaging |
Het |
Alox5 |
T |
A |
6: 116,437,924 (GRCm39) |
Y21F |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,739,798 (GRCm39) |
T1942A |
probably benign |
Het |
Aoc1l1 |
T |
C |
6: 48,953,064 (GRCm39) |
S330P |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
Casp1 |
A |
G |
9: 5,299,333 (GRCm39) |
T21A |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,880,671 (GRCm39) |
H432R |
probably benign |
Het |
Cttnbp2 |
A |
C |
6: 18,405,248 (GRCm39) |
C574G |
probably damaging |
Het |
Cyp1a1 |
T |
C |
9: 57,607,432 (GRCm39) |
V20A |
probably benign |
Het |
Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,126,467 (GRCm39) |
S1287P |
possibly damaging |
Het |
Dnttip2 |
T |
C |
3: 122,070,146 (GRCm39) |
S454P |
probably damaging |
Het |
Drp2 |
A |
T |
X: 133,335,884 (GRCm39) |
|
probably benign |
Het |
Flcn |
C |
T |
11: 59,694,610 (GRCm39) |
V121I |
possibly damaging |
Het |
Fmo1 |
G |
C |
1: 162,661,217 (GRCm39) |
Y355* |
probably null |
Het |
Git2 |
T |
A |
5: 114,902,727 (GRCm39) |
H138L |
probably damaging |
Het |
Gpr162 |
G |
A |
6: 124,838,658 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnt1 |
T |
C |
2: 25,797,638 (GRCm39) |
I881T |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,646,747 (GRCm39) |
C1754S |
probably damaging |
Het |
Mpp3 |
A |
T |
11: 101,914,246 (GRCm39) |
D116E |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,036,747 (GRCm39) |
D985G |
probably damaging |
Het |
Necap1 |
T |
C |
6: 122,864,337 (GRCm39) |
V273A |
probably damaging |
Het |
Nlrc5 |
T |
C |
8: 95,203,192 (GRCm39) |
S431P |
probably damaging |
Het |
Nutm2 |
A |
T |
13: 50,623,920 (GRCm39) |
T206S |
probably benign |
Het |
Or2d3 |
GAACAACAACAA |
GAACAACAA |
7: 106,490,567 (GRCm39) |
|
probably benign |
Het |
Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
Or8g19 |
G |
A |
9: 39,055,725 (GRCm39) |
A110T |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,853,897 (GRCm39) |
R89H |
probably benign |
Het |
Prpf38b |
T |
C |
3: 108,818,487 (GRCm39) |
Y91C |
probably damaging |
Het |
Radil |
C |
T |
5: 142,480,560 (GRCm39) |
A632T |
probably benign |
Het |
Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
Sdf2 |
C |
T |
11: 78,141,863 (GRCm39) |
T66I |
probably damaging |
Het |
Specc1 |
T |
C |
11: 62,009,356 (GRCm39) |
S371P |
probably damaging |
Het |
Suco |
T |
C |
1: 161,674,799 (GRCm39) |
E416G |
probably damaging |
Het |
Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
Tars3 |
C |
T |
7: 65,332,567 (GRCm39) |
T556M |
probably damaging |
Het |
Tcirg1 |
C |
T |
19: 3,949,069 (GRCm39) |
D407N |
probably damaging |
Het |
Tefm |
G |
T |
11: 80,031,156 (GRCm39) |
L27I |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,918,225 (GRCm39) |
I1845T |
probably benign |
Het |
Tfam |
A |
T |
10: 71,069,233 (GRCm39) |
I119N |
probably damaging |
Het |
Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,804,889 (GRCm39) |
I947T |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Usp54 |
T |
C |
14: 20,611,202 (GRCm39) |
T1205A |
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,805,496 (GRCm39) |
R454G |
probably damaging |
Het |
Xylb |
T |
C |
9: 119,217,781 (GRCm39) |
V477A |
probably benign |
Het |
|
Other mutations in Phactr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00335:Phactr2
|
APN |
10 |
13,121,279 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01844:Phactr2
|
APN |
10 |
13,129,181 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01893:Phactr2
|
APN |
10 |
13,122,932 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02458:Phactr2
|
APN |
10 |
13,137,572 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02612:Phactr2
|
APN |
10 |
13,121,167 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02620:Phactr2
|
APN |
10 |
13,167,632 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03064:Phactr2
|
APN |
10 |
13,264,457 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL03493:Phactr2
|
APN |
10 |
13,133,413 (GRCm39) |
missense |
probably benign |
0.02 |
R0973:Phactr2
|
UTSW |
10 |
13,122,883 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0973:Phactr2
|
UTSW |
10 |
13,122,883 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0974:Phactr2
|
UTSW |
10 |
13,122,883 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1480:Phactr2
|
UTSW |
10 |
13,129,536 (GRCm39) |
missense |
possibly damaging |
0.74 |
R3115:Phactr2
|
UTSW |
10 |
13,137,645 (GRCm39) |
nonsense |
probably null |
|
R3116:Phactr2
|
UTSW |
10 |
13,137,645 (GRCm39) |
nonsense |
probably null |
|
R3713:Phactr2
|
UTSW |
10 |
13,264,476 (GRCm39) |
start gained |
probably benign |
|
R4368:Phactr2
|
UTSW |
10 |
13,129,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R4371:Phactr2
|
UTSW |
10 |
13,129,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R5344:Phactr2
|
UTSW |
10 |
13,129,360 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5491:Phactr2
|
UTSW |
10 |
13,137,590 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5617:Phactr2
|
UTSW |
10 |
13,349,809 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5656:Phactr2
|
UTSW |
10 |
13,264,447 (GRCm39) |
missense |
probably benign |
0.34 |
R5895:Phactr2
|
UTSW |
10 |
13,121,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R6051:Phactr2
|
UTSW |
10 |
13,137,555 (GRCm39) |
splice site |
probably null |
0.00 |
R6317:Phactr2
|
UTSW |
10 |
13,137,626 (GRCm39) |
missense |
probably damaging |
0.98 |
R7048:Phactr2
|
UTSW |
10 |
13,121,168 (GRCm39) |
missense |
probably benign |
0.28 |
R7101:Phactr2
|
UTSW |
10 |
13,122,922 (GRCm39) |
missense |
probably benign |
0.00 |
R7221:Phactr2
|
UTSW |
10 |
13,122,783 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7868:Phactr2
|
UTSW |
10 |
13,108,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R8408:Phactr2
|
UTSW |
10 |
13,129,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R8865:Phactr2
|
UTSW |
10 |
13,129,476 (GRCm39) |
missense |
probably benign |
0.00 |
R9095:Phactr2
|
UTSW |
10 |
13,129,386 (GRCm39) |
missense |
probably benign |
0.26 |
R9443:Phactr2
|
UTSW |
10 |
13,122,841 (GRCm39) |
missense |
probably benign |
0.00 |
R9572:Phactr2
|
UTSW |
10 |
13,264,561 (GRCm39) |
unclassified |
probably benign |
|
R9695:Phactr2
|
UTSW |
10 |
13,349,908 (GRCm39) |
missense |
unknown |
|
RF023:Phactr2
|
UTSW |
10 |
13,121,178 (GRCm39) |
missense |
probably benign |
0.10 |
X0026:Phactr2
|
UTSW |
10 |
13,133,378 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTGAGAGCTCTCCCTTAAGAC -3'
(R):5'- TGCTGCCTCTCACATTCGAG -3'
Sequencing Primer
(F):5'- TGAGAGCTCTCCCTTAAGACTAGGC -3'
(R):5'- TCTCACATTCGAGGCGTG -3'
|
Posted On |
2015-07-06 |