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 |
13207717-13474412 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13261846 bp (GRCm38)
|
| 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 |
|---|
| 1810041L15Rik |
C |
A |
15: 84,406,510 (GRCm38) |
V199L |
probably benign |
Het |
| A1cf |
G |
T |
19: 31,918,062 (GRCm38) |
A182S |
possibly damaging |
Het |
| Aldh1l2 |
A |
T |
10: 83,522,785 (GRCm38) |
D2E |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,562,681 (GRCm38) |
D383Y |
probably damaging |
Het |
| Cd248 |
T |
C |
19: 5,070,209 (GRCm38) |
L695P |
probably damaging |
Het |
| Cela1 |
T |
A |
15: 100,682,980 (GRCm38) |
N132Y |
probably damaging |
Het |
| Cisd2 |
A |
T |
3: 135,408,840 (GRCm38) |
D123E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,738,236 (GRCm38) |
D1571V |
probably damaging |
Het |
| Fam71e2 |
T |
C |
7: 4,757,926 (GRCm38) |
I596V |
probably benign |
Het |
| Fbxo48 |
C |
T |
11: 16,954,280 (GRCm38) |
T144M |
probably damaging |
Het |
| Fbxo7 |
C |
A |
10: 86,048,026 (GRCm38) |
P497Q |
probably damaging |
Het |
| Gm12695 |
T |
A |
4: 96,769,668 (GRCm38) |
H88L |
possibly damaging |
Het |
| Gm8994 |
C |
G |
6: 136,329,557 (GRCm38) |
R339G |
probably damaging |
Het |
| Gpat4 |
A |
G |
8: 23,180,664 (GRCm38) |
I133T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,609,825 (GRCm38) |
|
probably null |
Het |
| Ncaph |
T |
C |
2: 127,123,675 (GRCm38) |
T252A |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,434,972 (GRCm38) |
Y163* |
probably null |
Het |
| Neurod4 |
C |
T |
10: 130,271,067 (GRCm38) |
V113I |
possibly damaging |
Het |
| Olfr1305 |
T |
A |
2: 111,873,562 (GRCm38) |
I98F |
probably benign |
Het |
| Olfr411 |
A |
T |
11: 74,346,914 (GRCm38) |
H103Q |
probably benign |
Het |
| Olfr71 |
A |
G |
4: 43,705,990 (GRCm38) |
S193P |
probably damaging |
Het |
| Pbxip1 |
T |
A |
3: 89,443,159 (GRCm38) |
M37K |
probably benign |
Het |
| Phf20l1 |
C |
T |
15: 66,615,785 (GRCm38) |
P480L |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,815,246 (GRCm38) |
S538P |
possibly damaging |
Het |
| Rassf1 |
T |
A |
9: 107,561,415 (GRCm38) |
M228K |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,297,383 (GRCm38) |
D231G |
probably damaging |
Het |
| She |
A |
T |
3: 89,831,790 (GRCm38) |
D96V |
probably damaging |
Het |
| Tmem260 |
T |
A |
14: 48,512,170 (GRCm38) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,732,358 (GRCm38) |
I28751F |
probably damaging |
Het |
| Zfp60 |
T |
G |
7: 27,748,515 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Phactr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Phactr2
|
APN |
10 |
13,245,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01844:Phactr2
|
APN |
10 |
13,253,437 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL01893:Phactr2
|
APN |
10 |
13,247,188 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL02458:Phactr2
|
APN |
10 |
13,261,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02612:Phactr2
|
APN |
10 |
13,245,423 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02620:Phactr2
|
APN |
10 |
13,291,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03064:Phactr2
|
APN |
10 |
13,388,713 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL03493:Phactr2
|
APN |
10 |
13,257,669 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0973:Phactr2
|
UTSW |
10 |
13,247,139 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0973:Phactr2
|
UTSW |
10 |
13,247,139 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0974:Phactr2
|
UTSW |
10 |
13,247,139 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1480:Phactr2
|
UTSW |
10 |
13,253,792 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R3115:Phactr2
|
UTSW |
10 |
13,261,901 (GRCm38) |
nonsense |
probably null |
|
|
R3116:Phactr2
|
UTSW |
10 |
13,261,901 (GRCm38) |
nonsense |
probably null |
|
|
R3713:Phactr2
|
UTSW |
10 |
13,388,732 (GRCm38) |
start gained |
probably benign |
|
|
R4367:Phactr2
|
UTSW |
10 |
13,253,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4368:Phactr2
|
UTSW |
10 |
13,253,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4371:Phactr2
|
UTSW |
10 |
13,253,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5344:Phactr2
|
UTSW |
10 |
13,253,616 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R5617:Phactr2
|
UTSW |
10 |
13,474,065 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R5656:Phactr2
|
UTSW |
10 |
13,388,703 (GRCm38) |
missense |
probably benign |
0.34 |
|
R5895:Phactr2
|
UTSW |
10 |
13,245,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6051:Phactr2
|
UTSW |
10 |
13,261,811 (GRCm38) |
splice site |
probably null |
0.00 |
|
R6317:Phactr2
|
UTSW |
10 |
13,261,882 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7048:Phactr2
|
UTSW |
10 |
13,245,424 (GRCm38) |
missense |
probably benign |
0.28 |
|
R7101:Phactr2
|
UTSW |
10 |
13,247,178 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7221:Phactr2
|
UTSW |
10 |
13,247,039 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R7868:Phactr2
|
UTSW |
10 |
13,232,609 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8408:Phactr2
|
UTSW |
10 |
13,253,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8865:Phactr2
|
UTSW |
10 |
13,253,732 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9095:Phactr2
|
UTSW |
10 |
13,253,642 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9443:Phactr2
|
UTSW |
10 |
13,247,097 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9572:Phactr2
|
UTSW |
10 |
13,388,817 (GRCm38) |
unclassified |
probably benign |
|
|
R9695:Phactr2
|
UTSW |
10 |
13,474,164 (GRCm38) |
missense |
unknown |
|
|
RF023:Phactr2
|
UTSW |
10 |
13,245,434 (GRCm38) |
missense |
probably benign |
0.10 |
|
X0026:Phactr2
|
UTSW |
10 |
13,257,634 (GRCm38) |
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 |
Incidental Mutation