Incidental Mutation 'R3116:Phactr2'
| ID |
264034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phactr2
|
| Ensembl Gene |
ENSMUSG00000062866 |
| Gene Name |
phosphatase and actin regulator 2 |
| Synonyms |
|
| MMRRC Submission |
040589-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3116 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
13083461-13350156 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 13137645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 166
(E166*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079698]
[ENSMUST00000105543]
[ENSMUST00000105545]
[ENSMUST00000105546]
|
| AlphaFold |
B1AVP0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079698
AA Change: E96*
|
| SMART Domains |
Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866
AA Change: E96*
| 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 null
Transcript: ENSMUST00000105543
AA Change: E107*
|
| SMART Domains |
Protein: ENSMUSP00000101182
Gene: ENSMUSG00000062866
AA Change: E107*
| 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 null
Transcript: ENSMUST00000105545
AA Change: E166*
|
| SMART Domains |
Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866
AA Change: E166*
| 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 null
Transcript: ENSMUST00000105546
AA Change: E96*
|
| SMART Domains |
Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866
AA Change: E96*
| 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 null
Transcript: ENSMUST00000105547
AA Change: E166*
|
| SMART Domains |
Protein: ENSMUSP00000101186
Gene: ENSMUSG00000062866
AA Change: E166*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,946,610 (GRCm39) |
I37F |
possibly damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,331 (GRCm39) |
Y113C |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,521,953 (GRCm39) |
N357S |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,520,995 (GRCm39) |
F2783S |
probably damaging |
Het |
| Desi2 |
T |
A |
1: 178,072,008 (GRCm39) |
M104K |
probably damaging |
Het |
| Disp1 |
C |
T |
1: 182,870,486 (GRCm39) |
V645I |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,165,858 (GRCm39) |
H1914L |
probably benign |
Het |
| Fdft1 |
T |
C |
14: 63,415,147 (GRCm39) |
I28M |
probably benign |
Het |
| Ffar3 |
T |
C |
7: 30,555,231 (GRCm39) |
M30V |
probably benign |
Het |
| Grm3 |
A |
T |
5: 9,620,752 (GRCm39) |
F164Y |
probably damaging |
Het |
| Ints5 |
T |
C |
19: 8,872,136 (GRCm39) |
S32P |
possibly damaging |
Het |
| Itgam |
T |
A |
7: 127,715,201 (GRCm39) |
S908R |
probably damaging |
Het |
| Kif20b |
C |
T |
19: 34,947,480 (GRCm39) |
P1565L |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,940,121 (GRCm39) |
E1610G |
probably damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Magoh |
T |
C |
4: 107,744,409 (GRCm39) |
V126A |
possibly damaging |
Het |
| Marchf6 |
G |
A |
15: 31,486,265 (GRCm39) |
S362F |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Moxd1 |
G |
T |
10: 24,177,429 (GRCm39) |
E582* |
probably null |
Het |
| Ncor2 |
A |
T |
5: 125,101,230 (GRCm39) |
L2195Q |
probably damaging |
Het |
| Neil1 |
A |
T |
9: 57,053,947 (GRCm39) |
D124E |
probably benign |
Het |
| Nhsl1 |
A |
T |
10: 18,400,916 (GRCm39) |
Q714L |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,373,076 (GRCm39) |
M1057L |
probably benign |
Het |
| Npas3 |
G |
A |
12: 54,114,508 (GRCm39) |
|
probably null |
Het |
| Oas1h |
C |
T |
5: 120,999,679 (GRCm39) |
Q55* |
probably null |
Het |
| Or2a5 |
T |
C |
6: 42,873,784 (GRCm39) |
V133A |
probably benign |
Het |
| Or2ag2b |
T |
A |
7: 106,417,571 (GRCm39) |
F94I |
probably damaging |
Het |
| Or52h9 |
C |
A |
7: 104,202,295 (GRCm39) |
H56Q |
probably benign |
Het |
| Or5p61 |
T |
C |
7: 107,759,029 (GRCm39) |
E17G |
probably benign |
Het |
| Or7d9 |
A |
T |
9: 20,197,523 (GRCm39) |
H176L |
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,482,222 (GRCm39) |
L422F |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,499,971 (GRCm39) |
V1051A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,306 (GRCm39) |
S828P |
possibly damaging |
Het |
| Rad21 |
T |
A |
15: 51,828,397 (GRCm39) |
E557V |
probably null |
Het |
| Rtn3 |
T |
G |
19: 7,409,355 (GRCm39) |
N888H |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,838,101 (GRCm39) |
|
probably null |
Het |
| Slc7a11 |
T |
A |
3: 50,338,588 (GRCm39) |
M274L |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,360,979 (GRCm39) |
N825S |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,262,421 (GRCm39) |
D610V |
probably benign |
Het |
| Tmed11 |
C |
T |
5: 108,927,705 (GRCm39) |
V110M |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,673,254 (GRCm39) |
D3G |
possibly damaging |
Het |
| Trp53rkb |
C |
T |
2: 166,636,009 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
A |
G |
6: 34,882,522 (GRCm39) |
L209P |
probably damaging |
Het |
| Zfp511 |
T |
A |
7: 139,616,504 (GRCm39) |
D46E |
probably benign |
Het |
| Zfp804a |
C |
A |
2: 82,089,761 (GRCm39) |
Q1197K |
probably damaging |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTCAAAGTTGGGCTGTGC -3'
(R):5'- CAATGTTGCTTTCCTCAAGACC -3'
Sequencing Primer
(F):5'- CTGTGCTACAGGAGATGACATG -3'
(R):5'- GCTTTCCTCAAGACCAAGAATTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation