Incidental Mutation 'R5491:Phactr2'
ID |
432087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phactr2
|
Ensembl Gene |
ENSMUSG00000062866 |
Gene Name |
phosphatase and actin regulator 2 |
Synonyms |
|
MMRRC Submission |
043052-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5491 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
13083461-13350156 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13137590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 184
(N184S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101184
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079698]
[ENSMUST00000105543]
[ENSMUST00000105545]
[ENSMUST00000105546]
|
AlphaFold |
B1AVP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079698
AA Change: N114S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000078637 Gene: ENSMUSG00000062866 AA Change: N114S
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 |
possibly damaging
Transcript: ENSMUST00000105543
AA Change: N125S
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101182 Gene: ENSMUSG00000062866 AA Change: N125S
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 |
possibly damaging
Transcript: ENSMUST00000105545
AA Change: N184S
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101184 Gene: ENSMUSG00000062866 AA Change: N184S
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 |
possibly damaging
Transcript: ENSMUST00000105546
AA Change: N114S
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101185 Gene: ENSMUSG00000062866 AA Change: N114S
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 |
possibly damaging
Transcript: ENSMUST00000105547
AA Change: N184S
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101186 Gene: ENSMUSG00000062866 AA Change: N184S
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 |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 89.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
G |
T |
19: 31,895,462 (GRCm39) |
A182S |
possibly damaging |
Het |
Aldh1l2 |
A |
T |
10: 83,358,649 (GRCm39) |
D2E |
probably benign |
Het |
Bach2 |
G |
T |
4: 32,562,681 (GRCm39) |
D383Y |
probably damaging |
Het |
Cd248 |
T |
C |
19: 5,120,237 (GRCm39) |
L695P |
probably damaging |
Het |
Cela1 |
T |
A |
15: 100,580,861 (GRCm39) |
N132Y |
probably damaging |
Het |
Cisd2 |
A |
T |
3: 135,114,601 (GRCm39) |
D123E |
probably damaging |
Het |
Col6a6 |
T |
A |
9: 105,615,435 (GRCm39) |
D1571V |
probably damaging |
Het |
Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
Fbxo48 |
C |
T |
11: 16,904,280 (GRCm39) |
T144M |
probably damaging |
Het |
Fbxo7 |
C |
A |
10: 85,883,890 (GRCm39) |
P497Q |
probably damaging |
Het |
Garin5b |
T |
C |
7: 4,760,925 (GRCm39) |
I596V |
probably benign |
Het |
Gm12695 |
T |
A |
4: 96,657,905 (GRCm39) |
H88L |
possibly damaging |
Het |
Gpat4 |
A |
G |
8: 23,670,680 (GRCm39) |
I133T |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,485,576 (GRCm39) |
|
probably null |
Het |
Ncaph |
T |
C |
2: 126,965,595 (GRCm39) |
T252A |
probably benign |
Het |
Nebl |
G |
T |
2: 17,439,783 (GRCm39) |
Y163* |
probably null |
Het |
Neurod4 |
C |
T |
10: 130,106,936 (GRCm39) |
V113I |
possibly damaging |
Het |
Or13j1 |
A |
G |
4: 43,705,990 (GRCm39) |
S193P |
probably damaging |
Het |
Or3a1d |
A |
T |
11: 74,237,740 (GRCm39) |
H103Q |
probably benign |
Het |
Or4f56 |
T |
A |
2: 111,703,907 (GRCm39) |
I98F |
probably benign |
Het |
Pbxip1 |
T |
A |
3: 89,350,466 (GRCm39) |
M37K |
probably benign |
Het |
Phf20l1 |
C |
T |
15: 66,487,634 (GRCm39) |
P480L |
possibly damaging |
Het |
Psme4 |
T |
C |
11: 30,765,246 (GRCm39) |
S538P |
possibly damaging |
Het |
Rassf1 |
T |
A |
9: 107,438,614 (GRCm39) |
M228K |
possibly damaging |
Het |
Rpn2 |
A |
G |
2: 157,139,303 (GRCm39) |
D231G |
probably damaging |
Het |
She |
A |
T |
3: 89,739,097 (GRCm39) |
D96V |
probably damaging |
Het |
Shisal1 |
C |
A |
15: 84,290,711 (GRCm39) |
V199L |
probably benign |
Het |
Tmem260 |
T |
A |
14: 48,749,627 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,562,702 (GRCm39) |
I28751F |
probably damaging |
Het |
Zfp60 |
T |
G |
7: 27,447,940 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- GCAGAGGGCACACTATAACTGG -3'
(R):5'- ACGAACCTAGATCCTGCAGTC -3'
Sequencing Primer
(F):5'- GGGCACACTATAACTGGATGTCTC -3'
(R):5'- CTAGATCCTGCAGTCCTAGTGAATG -3'
|
Posted On |
2016-10-05 |