Incidental Mutation 'IGL00335:Phactr2'
| ID |
6125 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phactr2
|
| Ensembl Gene |
ENSMUSG00000062866 |
| Gene Name |
phosphatase and actin regulator 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
13083461-13350156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13121279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 470
(T470A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079698]
[ENSMUST00000105543]
[ENSMUST00000105545]
[ENSMUST00000105546]
|
| AlphaFold |
B1AVP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079698
AA Change: T400A
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866
AA Change: T400A
| 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: T407A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101182
Gene: ENSMUSG00000062866
AA Change: T407A
| 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: T470A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866
AA Change: T470A
| 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: T476A
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866
AA Change: T476A
| 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: T474A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101186
Gene: ENSMUSG00000062866
AA Change: T474A
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700048O20Rik |
C |
A |
9: 121,769,833 (GRCm39) |
|
noncoding transcript |
Het |
| 4930579F01Rik |
C |
A |
3: 137,891,959 (GRCm39) |
|
probably benign |
Het |
| Aurkc |
T |
A |
7: 6,999,547 (GRCm39) |
I18N |
probably damaging |
Het |
| Bace1 |
T |
C |
9: 45,750,588 (GRCm39) |
|
probably null |
Het |
| Chrne |
C |
T |
11: 70,506,588 (GRCm39) |
V311I |
probably benign |
Het |
| Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
| Cyp2c70 |
C |
T |
19: 40,156,020 (GRCm39) |
V177M |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 183,801,328 (GRCm39) |
E365G |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,785,560 (GRCm39) |
N332K |
possibly damaging |
Het |
| Irx4 |
T |
C |
13: 73,416,810 (GRCm39) |
V402A |
probably benign |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,582,645 (GRCm39) |
|
probably benign |
Het |
| Lhfpl7 |
A |
G |
5: 113,383,869 (GRCm39) |
R96G |
probably benign |
Het |
| Lrrc8b |
T |
C |
5: 105,628,365 (GRCm39) |
I237T |
probably damaging |
Het |
| Mepe |
G |
T |
5: 104,485,843 (GRCm39) |
G328C |
probably damaging |
Het |
| Numb |
A |
G |
12: 83,854,906 (GRCm39) |
I129T |
probably damaging |
Het |
| Or5h25 |
T |
C |
16: 58,930,961 (GRCm39) |
D4G |
probably benign |
Het |
| Or6c209 |
T |
C |
10: 129,483,306 (GRCm39) |
I103T |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,866,504 (GRCm39) |
D390G |
probably benign |
Het |
| Pglyrp3 |
G |
A |
3: 91,929,986 (GRCm39) |
V51I |
probably damaging |
Het |
| Psmg1 |
G |
A |
16: 95,781,268 (GRCm39) |
T259I |
possibly damaging |
Het |
| Rtl3 |
T |
C |
X: 105,882,543 (GRCm39) |
T240A |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,824,385 (GRCm39) |
|
probably null |
Het |
| Slc10a6 |
A |
G |
5: 103,756,991 (GRCm39) |
S258P |
probably benign |
Het |
| Slc1a6 |
T |
C |
10: 78,637,647 (GRCm39) |
L391P |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,134,681 (GRCm39) |
V465M |
possibly damaging |
Het |
| Sost |
T |
C |
11: 101,857,705 (GRCm39) |
D32G |
probably damaging |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,282 (GRCm39) |
S54P |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,770,003 (GRCm39) |
S598T |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,809 (GRCm39) |
I890N |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,593 (GRCm39) |
D485G |
probably benign |
Het |
| Wee2 |
A |
T |
6: 40,438,995 (GRCm39) |
I373F |
probably damaging |
Het |
| Xkr6 |
A |
G |
14: 64,056,664 (GRCm39) |
T192A |
probably damaging |
Het |
| Zfp638 |
A |
G |
6: 83,956,700 (GRCm39) |
D1769G |
probably damaging |
Het |
|
| Other mutations in Phactr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R4367:Phactr2
|
UTSW |
10 |
13,129,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation