Incidental Mutation 'R7312:Phlpp2'
| ID |
567677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phlpp2
|
| Ensembl Gene |
ENSMUSG00000031732 |
| Gene Name |
PH domain and leucine rich repeat protein phosphatase 2 |
| Synonyms |
C130044A18Rik, Phlppl |
| MMRRC Submission |
045410-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R7312 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110595174-110671303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110666785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1105
(S1105G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034175]
[ENSMUST00000179721]
|
| AlphaFold |
Q8BXA7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034175
AA Change: S1070G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: S1070G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
|
Blast:PH
|
148 |
247 |
3e-61 |
BLAST |
|
LRR
|
295 |
314 |
1.12e2 |
SMART |
|
Pfam:LRR_7
|
319 |
335 |
3.5e-2 |
PFAM |
|
LRR
|
341 |
363 |
2.82e0 |
SMART |
|
LRR
|
364 |
387 |
9.75e0 |
SMART |
|
LRR
|
456 |
479 |
2.68e1 |
SMART |
|
LRR
|
498 |
517 |
1.35e1 |
SMART |
|
LRR
|
521 |
540 |
5.59e1 |
SMART |
|
LRR
|
544 |
563 |
2.79e1 |
SMART |
|
LRR
|
569 |
589 |
1.62e1 |
SMART |
|
LRR
|
590 |
609 |
1.67e1 |
SMART |
|
LRR
|
616 |
641 |
1.33e2 |
SMART |
|
LRR
|
640 |
659 |
1.4e1 |
SMART |
|
LRR_TYP
|
664 |
687 |
6.78e-3 |
SMART |
|
LRR
|
709 |
733 |
2.15e2 |
SMART |
|
PP2Cc
|
772 |
1028 |
2.98e-30 |
SMART |
|
low complexity region
|
1061 |
1095 |
N/A |
INTRINSIC |
|
Blast:PP2Cc
|
1109 |
1175 |
8e-15 |
BLAST |
|
low complexity region
|
1297 |
1315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179721
AA Change: S1105G
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: S1105G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
92 |
N/A |
INTRINSIC |
|
Blast:PH
|
183 |
282 |
4e-61 |
BLAST |
|
LRR
|
330 |
349 |
1.12e2 |
SMART |
|
LRR
|
376 |
398 |
2.82e0 |
SMART |
|
LRR
|
399 |
422 |
9.75e0 |
SMART |
|
LRR
|
491 |
514 |
2.68e1 |
SMART |
|
LRR
|
533 |
552 |
1.35e1 |
SMART |
|
LRR
|
556 |
575 |
5.59e1 |
SMART |
|
LRR
|
579 |
598 |
2.79e1 |
SMART |
|
LRR
|
604 |
624 |
1.62e1 |
SMART |
|
LRR
|
625 |
644 |
1.67e1 |
SMART |
|
LRR
|
651 |
676 |
1.33e2 |
SMART |
|
LRR
|
675 |
694 |
1.4e1 |
SMART |
|
LRR_TYP
|
699 |
722 |
6.78e-3 |
SMART |
|
LRR
|
744 |
768 |
2.15e2 |
SMART |
|
PP2Cc
|
807 |
1063 |
2.98e-30 |
SMART |
|
low complexity region
|
1096 |
1130 |
N/A |
INTRINSIC |
|
Blast:PP2Cc
|
1144 |
1210 |
8e-15 |
BLAST |
|
low complexity region
|
1332 |
1350 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to DSS-induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
C |
3: 89,969,021 (GRCm39) |
S215P |
probably benign |
Het |
| Ano2 |
C |
T |
6: 126,016,460 (GRCm39) |
Q998* |
probably null |
Het |
| Atg9a |
A |
T |
1: 75,164,736 (GRCm39) |
V76E |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 119,034,172 (GRCm39) |
I118M |
|
Het |
| Cacna1g |
T |
A |
11: 94,323,383 (GRCm39) |
I1274F |
probably damaging |
Het |
| Cd300lg |
C |
T |
11: 101,937,767 (GRCm39) |
A199V |
probably benign |
Het |
| Cfap61 |
C |
T |
2: 145,887,390 (GRCm39) |
R612* |
probably null |
Het |
| Cpeb4 |
A |
T |
11: 31,881,417 (GRCm39) |
Y692F |
probably damaging |
Het |
| Dcun1d1 |
A |
G |
3: 35,951,940 (GRCm39) |
|
probably null |
Het |
| Dennd2d |
T |
A |
3: 106,398,579 (GRCm39) |
M188K |
probably benign |
Het |
| Dmgdh |
A |
G |
13: 93,845,354 (GRCm39) |
|
probably null |
Het |
| Efl1 |
T |
A |
7: 82,330,652 (GRCm39) |
M275K |
probably benign |
Het |
| Erp29 |
G |
T |
5: 121,583,392 (GRCm39) |
A178D |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,308,594 (GRCm39) |
N156S |
possibly damaging |
Het |
| Frrs1 |
C |
T |
3: 116,675,426 (GRCm39) |
T118I |
probably damaging |
Het |
| Frrs1l |
A |
G |
4: 56,968,230 (GRCm39) |
W181R |
probably benign |
Het |
| Gprc5b |
C |
A |
7: 118,583,482 (GRCm39) |
W129L |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,593 (GRCm39) |
H170R |
probably benign |
Het |
| Il12rb2 |
C |
T |
6: 67,333,617 (GRCm39) |
D221N |
probably benign |
Het |
| Lmo1 |
T |
C |
7: 108,742,819 (GRCm39) |
N28S |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 111,006,525 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,400,130 (GRCm39) |
F722I |
probably damaging |
Het |
| Mical1 |
T |
C |
10: 41,355,772 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
A |
G |
10: 29,073,240 (GRCm39) |
Y844C |
probably damaging |
Het |
| Mtmr11 |
C |
T |
3: 96,071,855 (GRCm39) |
T223M |
possibly damaging |
Het |
| Mup21 |
A |
G |
4: 62,068,468 (GRCm39) |
V66A |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,111,672 (GRCm39) |
A726D |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nudt21 |
A |
T |
8: 94,746,227 (GRCm39) |
V157D |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,639,806 (GRCm39) |
I52T |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,946,442 (GRCm39) |
D4421G |
probably benign |
Het |
| Oog3 |
T |
C |
4: 143,886,801 (GRCm39) |
I106M |
probably benign |
Het |
| Or10g9 |
A |
T |
9: 39,912,106 (GRCm39) |
V139E |
probably benign |
Het |
| Or2g25 |
T |
C |
17: 37,970,403 (GRCm39) |
T274A |
possibly damaging |
Het |
| Or2z9 |
T |
C |
8: 72,853,793 (GRCm39) |
L63P |
probably damaging |
Het |
| Or51f1 |
T |
A |
7: 102,505,706 (GRCm39) |
Y261F |
probably damaging |
Het |
| Or5w20 |
T |
G |
2: 87,726,755 (GRCm39) |
C71G |
possibly damaging |
Het |
| Orai2 |
T |
A |
5: 136,179,437 (GRCm39) |
I199F |
probably damaging |
Het |
| P2rx5 |
C |
A |
11: 73,055,692 (GRCm39) |
L50M |
probably damaging |
Het |
| Pdia2 |
T |
C |
17: 26,416,634 (GRCm39) |
E215G |
possibly damaging |
Het |
| Pds5a |
A |
T |
5: 65,823,570 (GRCm39) |
S74T |
possibly damaging |
Het |
| Pi4kb |
T |
A |
3: 94,891,888 (GRCm39) |
D189E |
probably benign |
Het |
| Pigw |
G |
A |
11: 84,768,585 (GRCm39) |
T248M |
probably damaging |
Het |
| Pnlip |
T |
A |
19: 58,670,134 (GRCm39) |
V458D |
probably damaging |
Het |
| Ppm1l |
G |
A |
3: 69,225,044 (GRCm39) |
V49I |
probably benign |
Het |
| Prl3b1 |
T |
A |
13: 27,426,473 (GRCm39) |
M1K |
probably null |
Het |
| Rad1 |
T |
A |
15: 10,493,367 (GRCm39) |
C265S |
probably benign |
Het |
| Rnaset2b |
C |
T |
17: 7,265,427 (GRCm39) |
S237F |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,561,672 (GRCm39) |
A56T |
unknown |
Het |
| S1pr2 |
T |
C |
9: 20,879,238 (GRCm39) |
I197V |
probably benign |
Het |
| Smyd4 |
A |
G |
11: 75,281,082 (GRCm39) |
Q185R |
probably benign |
Het |
| Sox5 |
T |
A |
6: 144,100,759 (GRCm39) |
T77S |
probably benign |
Het |
| Sox7 |
A |
G |
14: 64,185,291 (GRCm39) |
Y109C |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,954,676 (GRCm39) |
V25I |
probably damaging |
Het |
| Tln1 |
G |
A |
4: 43,545,922 (GRCm39) |
R898C |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,173 (GRCm39) |
E158V |
probably damaging |
Het |
| Tnpo3 |
C |
A |
6: 29,562,875 (GRCm39) |
R614L |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,296 (GRCm39) |
D223E |
probably benign |
Het |
| Zc3h12d |
A |
T |
10: 7,743,345 (GRCm39) |
M372L |
probably benign |
Het |
| Zfp28 |
G |
T |
7: 6,386,593 (GRCm39) |
|
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,759 (GRCm39) |
H231Q |
probably damaging |
Het |
| Zscan4b |
A |
G |
7: 10,634,867 (GRCm39) |
S459P |
probably benign |
Het |
|
| Other mutations in Phlpp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Phlpp2
|
APN |
8 |
110,652,422 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01363:Phlpp2
|
APN |
8 |
110,663,729 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01535:Phlpp2
|
APN |
8 |
110,660,697 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01815:Phlpp2
|
APN |
8 |
110,666,491 (GRCm39) |
missense |
probably benign |
|
|
IGL02105:Phlpp2
|
APN |
8 |
110,631,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02257:Phlpp2
|
APN |
8 |
110,646,731 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02318:Phlpp2
|
APN |
8 |
110,666,505 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02500:Phlpp2
|
APN |
8 |
110,640,250 (GRCm39) |
missense |
probably benign |
|
|
IGL03356:Phlpp2
|
APN |
8 |
110,662,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03366:Phlpp2
|
APN |
8 |
110,667,467 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0142:Phlpp2
|
UTSW |
8 |
110,634,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0144:Phlpp2
|
UTSW |
8 |
110,634,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Phlpp2
|
UTSW |
8 |
110,634,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0420:Phlpp2
|
UTSW |
8 |
110,666,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0426:Phlpp2
|
UTSW |
8 |
110,655,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0477:Phlpp2
|
UTSW |
8 |
110,622,138 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0529:Phlpp2
|
UTSW |
8 |
110,603,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0605:Phlpp2
|
UTSW |
8 |
110,659,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0655:Phlpp2
|
UTSW |
8 |
110,622,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0833:Phlpp2
|
UTSW |
8 |
110,663,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Phlpp2
|
UTSW |
8 |
110,663,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1394:Phlpp2
|
UTSW |
8 |
110,603,662 (GRCm39) |
nonsense |
probably null |
|
|
R1417:Phlpp2
|
UTSW |
8 |
110,667,313 (GRCm39) |
nonsense |
probably null |
|
|
R1602:Phlpp2
|
UTSW |
8 |
110,660,655 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1650:Phlpp2
|
UTSW |
8 |
110,660,587 (GRCm39) |
splice site |
probably benign |
|
|
R1815:Phlpp2
|
UTSW |
8 |
110,666,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Phlpp2
|
UTSW |
8 |
110,634,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Phlpp2
|
UTSW |
8 |
110,655,124 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2074:Phlpp2
|
UTSW |
8 |
110,655,124 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2075:Phlpp2
|
UTSW |
8 |
110,655,124 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2433:Phlpp2
|
UTSW |
8 |
110,666,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3028:Phlpp2
|
UTSW |
8 |
110,634,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Phlpp2
|
UTSW |
8 |
110,603,515 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4718:Phlpp2
|
UTSW |
8 |
110,667,452 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4739:Phlpp2
|
UTSW |
8 |
110,667,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Phlpp2
|
UTSW |
8 |
110,603,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5020:Phlpp2
|
UTSW |
8 |
110,666,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5047:Phlpp2
|
UTSW |
8 |
110,640,251 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5074:Phlpp2
|
UTSW |
8 |
110,652,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5330:Phlpp2
|
UTSW |
8 |
110,660,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5663:Phlpp2
|
UTSW |
8 |
110,630,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5668:Phlpp2
|
UTSW |
8 |
110,655,205 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6433:Phlpp2
|
UTSW |
8 |
110,661,317 (GRCm39) |
missense |
probably benign |
|
|
R6470:Phlpp2
|
UTSW |
8 |
110,663,826 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6804:Phlpp2
|
UTSW |
8 |
110,655,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7012:Phlpp2
|
UTSW |
8 |
110,603,486 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7183:Phlpp2
|
UTSW |
8 |
110,666,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Phlpp2
|
UTSW |
8 |
110,666,820 (GRCm39) |
missense |
probably benign |
|
|
R7349:Phlpp2
|
UTSW |
8 |
110,655,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7801:Phlpp2
|
UTSW |
8 |
110,652,474 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8059:Phlpp2
|
UTSW |
8 |
110,622,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8174:Phlpp2
|
UTSW |
8 |
110,595,321 (GRCm39) |
missense |
unknown |
|
|
R8242:Phlpp2
|
UTSW |
8 |
110,666,834 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8488:Phlpp2
|
UTSW |
8 |
110,640,202 (GRCm39) |
missense |
probably benign |
|
|
R8688:Phlpp2
|
UTSW |
8 |
110,631,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8843:Phlpp2
|
UTSW |
8 |
110,652,431 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9154:Phlpp2
|
UTSW |
8 |
110,666,590 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9556:Phlpp2
|
UTSW |
8 |
110,666,758 (GRCm39) |
missense |
probably benign |
|
|
R9737:Phlpp2
|
UTSW |
8 |
110,663,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9781:Phlpp2
|
UTSW |
8 |
110,662,178 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9786:Phlpp2
|
UTSW |
8 |
110,660,655 (GRCm39) |
nonsense |
probably null |
|
|
X0018:Phlpp2
|
UTSW |
8 |
110,639,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCACATTAGCCCAGAGC -3'
(R):5'- AGGCCATTGTCAGACTGATTGC -3'
Sequencing Primer
(F):5'- CAGAGCTACGGTTGTCAGGAC -3'
(R):5'- TTGTCAGACTGATTGCTGGAAAAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation