Incidental Mutation 'RF023:Phactr2'
| ID |
603999 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF023 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
13083461-13350156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13121178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 503
(Q503H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079698]
[ENSMUST00000105543]
[ENSMUST00000105545]
[ENSMUST00000105546]
|
| AlphaFold |
B1AVP0 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866
AA Change: Q433H
| 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 benign
Transcript: ENSMUST00000105543
AA Change: Q440H
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000101182
Gene: ENSMUSG00000062866
AA Change: Q440H
| 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 benign
Transcript: ENSMUST00000105545
AA Change: Q503H
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866
AA Change: Q503H
| 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 benign
Transcript: ENSMUST00000105546
AA Change: Q509H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866
AA Change: Q509H
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
96% (24/25) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,818 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAAAACAGAAAGGAAAAGGTGGCCAG |
AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,841 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG |
TGGCTGTGGCTGTGG |
1: 82,891,117 (GRCm39) |
|
probably benign |
Het |
| Amot |
GCAACAGCAAC |
GC |
X: 144,233,999 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,256,407 (GRCm39) |
S1172T |
probably damaging |
Het |
| Bltp1 |
T |
TTATTATTATTATTAG |
3: 37,104,909 (GRCm39) |
|
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,245,191 (GRCm39) |
V300I |
probably benign |
Het |
| Calhm1 |
GTGGC |
GTGGCTGTGGCTTTGGC |
19: 47,129,712 (GRCm39) |
|
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,301 (GRCm39) |
T516A |
probably damaging |
Het |
| Ccdc170 |
CCA |
CCAACA |
10: 4,511,018 (GRCm39) |
|
probably benign |
Het |
| Cdhr3 |
G |
T |
12: 33,110,348 (GRCm39) |
S312Y |
probably damaging |
Het |
| Cdk1 |
C |
T |
10: 69,176,328 (GRCm39) |
G260S |
possibly damaging |
Het |
| Cdsn |
AG |
AGACAGGAAGTAGTAGCTCTCAG |
17: 35,865,876 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,803,620 (GRCm39) |
V88E |
probably benign |
Het |
| Cfap46 |
TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC |
TCTTCTCCTTCTCCTTCTCC |
7: 139,218,834 (GRCm39) |
|
|
Het |
| Dnah11 |
T |
A |
12: 117,918,585 (GRCm39) |
R3449W |
probably damaging |
Het |
| Dnmt1 |
AGTTCCTACCTCGTT |
AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT |
9: 20,821,427 (GRCm39) |
|
probably null |
Het |
| E4f1 |
AGGC |
AGGCGGC |
17: 24,674,157 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CCGCCG |
CCGCCGGCGCCG |
4: 141,602,073 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
CTT |
CTTT |
2: 25,290,907 (GRCm39) |
|
probably null |
Het |
| Ephx2 |
A |
G |
14: 66,322,378 (GRCm39) |
|
probably null |
Het |
| Exd2 |
GCAGCAGCCGCAGCCACAGC |
GCAGC |
12: 80,522,689 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GCTC |
GCTCCGTCTC |
X: 71,313,660 (GRCm39) |
|
probably benign |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| Herc1 |
G |
C |
9: 66,365,616 (GRCm39) |
G324R |
|
Het |
| Hsdl2 |
CAGCCACAGCTGCAG |
CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG |
4: 59,610,644 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GCTTGAAG |
GCTTGAAGCGGGCCTTGAAG |
3: 37,179,969 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAG |
CAGCCCTAG |
1: 83,019,867 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
ACAGC |
ACAGCCACGGCCACCGCAGC |
1: 83,020,007 (GRCm39) |
|
probably benign |
Het |
| Krtap4-9 |
GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG |
GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG |
11: 99,676,217 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCTGCC |
TGCTGCCCCCGCCGCTGCC |
3: 92,925,587 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
TGGTGGTG |
T |
14: 75,185,006 (GRCm39) |
|
probably null |
Het |
| Mgam |
C |
T |
6: 40,657,642 (GRCm39) |
T999I |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,057 (GRCm39) |
E740G |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,525,779 (GRCm39) |
|
probably null |
Het |
| Ptprd |
T |
C |
4: 76,046,802 (GRCm39) |
Y241C |
probably damaging |
Het |
| Rad51ap2 |
T |
G |
12: 11,508,076 (GRCm39) |
V666G |
possibly damaging |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,684,952 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
CTCTCTCTCT |
CTCTCTCTCTCTCTCTCTGTCTCTCTCT |
10: 84,694,349 (GRCm39) |
|
probably benign |
Het |
| Rnf126 |
AGGACGAGG |
AG |
10: 79,594,977 (GRCm39) |
|
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,413,723 (GRCm39) |
S240T |
probably damaging |
Het |
| Rtbdn |
GCAGCG |
GCAGCGTCAGCG |
8: 85,682,795 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
G |
T |
19: 44,524,226 (GRCm39) |
A138D |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,205,482 (GRCm39) |
W3495R |
probably damaging |
Het |
| Tgoln1 |
CC |
CCCGTGGGCTTGCCAGAATTACCTTC |
6: 72,593,063 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,313,728 (GRCm39) |
H48R |
probably benign |
Het |
| Trappc9 |
CTGCTGCT |
CTGCTGCTGCTGCTGATGCTGCT |
15: 72,673,173 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
T |
TGCTGCTGCTGCTGCC |
15: 72,673,180 (GRCm39) |
|
probably benign |
Het |
| Vsig2 |
T |
A |
9: 37,450,559 (GRCm39) |
|
probably null |
Het |
| Wnk2 |
T |
C |
13: 49,300,255 (GRCm39) |
T152A |
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 |
|
|
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 |
|
|
X0026:Phactr2
|
UTSW |
10 |
13,133,378 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTTAAAGGTACTGAACAACTGAC -3'
(R):5'- TCCTGTTCAAGTCCAGCCATG -3'
Sequencing Primer
(F):5'- CCAAAGGGTAAATTCTGTGAATGGC -3'
(R):5'- GCCCTGCTAAGGTTAACACTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation