Incidental Mutation 'R0655:Phlpp2'
| ID |
62494 |
| 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 |
038840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R0655 (G1)
|
| Quality Score |
142 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
110595174-110671303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110622219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 154
(I154L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034175]
[ENSMUST00000179721]
|
| AlphaFold |
Q8BXA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034175
AA Change: I119L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: I119L
| 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 |
noncoding transcript
Transcript: ENSMUST00000154262
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179721
AA Change: I154L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: I154L
| 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: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
C |
17: 36,268,737 (GRCm39) |
I757M |
probably benign |
Het |
| Abtb3 |
A |
G |
10: 85,481,390 (GRCm39) |
T931A |
probably damaging |
Het |
| Atg16l1 |
T |
A |
1: 87,694,551 (GRCm39) |
I76N |
probably damaging |
Het |
| Baz1b |
T |
A |
5: 135,271,284 (GRCm39) |
I1289N |
probably benign |
Het |
| Bcl2l15 |
T |
A |
3: 103,740,285 (GRCm39) |
|
probably null |
Het |
| Cbl |
G |
T |
9: 44,070,049 (GRCm39) |
T566K |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,919,482 (GRCm39) |
K180E |
probably benign |
Het |
| Cpxm2 |
G |
A |
7: 131,656,549 (GRCm39) |
T571I |
possibly damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,736,046 (GRCm39) |
Y485F |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,871 (GRCm39) |
Y350N |
possibly damaging |
Het |
| Dstn |
T |
A |
2: 143,780,342 (GRCm39) |
I14N |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,831,460 (GRCm39) |
S184G |
probably benign |
Het |
| Eif1a |
G |
T |
18: 46,741,130 (GRCm39) |
G122C |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 139,990,799 (GRCm39) |
T562S |
probably benign |
Het |
| Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,161,673 (GRCm39) |
N30S |
probably damaging |
Het |
| Gria2 |
C |
A |
3: 80,639,377 (GRCm39) |
E212* |
probably null |
Het |
| Gsdmc2 |
C |
T |
15: 63,699,622 (GRCm39) |
A269T |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,109,350 (GRCm39) |
V195A |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,321,061 (GRCm39) |
S2123P |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,160,519 (GRCm39) |
E519G |
probably benign |
Het |
| Htr2b |
A |
G |
1: 86,038,565 (GRCm39) |
S14P |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,047 (GRCm39) |
V61A |
probably damaging |
Het |
| Ifitm1 |
C |
A |
7: 140,549,449 (GRCm39) |
F77L |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,345,346 (GRCm39) |
S118P |
probably benign |
Het |
| Mtmr3 |
C |
A |
11: 4,438,610 (GRCm39) |
D615Y |
probably damaging |
Het |
| Mtss1 |
C |
A |
15: 58,953,351 (GRCm39) |
C9F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,948,928 (GRCm39) |
S167P |
possibly damaging |
Het |
| Or1e34 |
T |
C |
11: 73,778,631 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,632 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or8b54 |
C |
T |
9: 38,686,850 (GRCm39) |
Q100* |
probably null |
Het |
| Oscp1 |
T |
C |
4: 125,952,526 (GRCm39) |
L18P |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,537,462 (GRCm39) |
S297P |
probably damaging |
Het |
| Phldb3 |
A |
T |
7: 24,323,797 (GRCm39) |
D476V |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,846 (GRCm39) |
V449E |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,416,341 (GRCm39) |
S519P |
probably benign |
Het |
| Rnf138 |
T |
G |
18: 21,143,840 (GRCm39) |
V128G |
probably benign |
Het |
| Safb |
T |
A |
17: 56,904,803 (GRCm39) |
S209T |
probably benign |
Het |
| Sbno1 |
C |
A |
5: 124,514,212 (GRCm39) |
V1327L |
possibly damaging |
Het |
| Scarb1 |
A |
G |
5: 125,377,504 (GRCm39) |
V176A |
probably damaging |
Het |
| Scd4 |
A |
G |
19: 44,327,407 (GRCm39) |
H161R |
possibly damaging |
Het |
| Selenoo |
T |
A |
15: 88,979,858 (GRCm39) |
H335Q |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,894,647 (GRCm39) |
F664S |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,626,217 (GRCm39) |
I1116M |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 54,901,690 (GRCm39) |
R835W |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,006,899 (GRCm39) |
E921G |
probably damaging |
Het |
| Tectb |
G |
A |
19: 55,178,302 (GRCm39) |
G234S |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,776,540 (GRCm39) |
M606I |
probably damaging |
Het |
| Tmed10 |
T |
A |
12: 85,390,291 (GRCm39) |
I88F |
probably damaging |
Het |
| Tnfrsf11a |
G |
A |
1: 105,735,880 (GRCm39) |
V31I |
unknown |
Het |
| Trp53inp2 |
G |
T |
2: 155,228,088 (GRCm39) |
G98* |
probably null |
Het |
| Tssc4 |
A |
G |
7: 142,623,782 (GRCm39) |
D30G |
probably damaging |
Het |
| Uaca |
T |
C |
9: 60,779,311 (GRCm39) |
Y1233H |
probably benign |
Het |
| Unc13c |
G |
A |
9: 73,838,235 (GRCm39) |
T872I |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,542,940 (GRCm39) |
H398R |
probably damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,207 (GRCm39) |
T112I |
probably benign |
Het |
| Vmn1r85 |
A |
G |
7: 12,818,650 (GRCm39) |
Y165H |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,319 (GRCm39) |
C748* |
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,102,233 (GRCm39) |
W929R |
probably damaging |
Het |
| Yeats2 |
A |
T |
16: 20,012,574 (GRCm39) |
K591* |
probably null |
Het |
| Zbtb9 |
T |
A |
17: 27,193,074 (GRCm39) |
S160T |
probably damaging |
Het |
| Znfx1 |
T |
A |
2: 166,898,827 (GRCm39) |
R32S |
probably damaging |
Het |
| Zng1 |
T |
C |
19: 24,930,684 (GRCm39) |
M122V |
possibly damaging |
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 |
|
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 |
|
|
R7312:Phlpp2
|
UTSW |
8 |
110,666,785 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Posted On |
2013-07-30 |
Incidental Mutation