Incidental Mutation 'R9781:Phlpp2'
| ID |
734056 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R9781 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
110595174-110671303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 110662178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 855
(R855L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034175]
[ENSMUST00000179721]
|
| AlphaFold |
Q8BXA7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034175
AA Change: R820L
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: R820L
| 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 |
possibly damaging
Transcript: ENSMUST00000179721
AA Change: R855L
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: R855L
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,519,860 (GRCm39) |
F1386L |
probably benign |
Het |
| Aoc1l2 |
G |
A |
6: 48,907,660 (GRCm39) |
S220N |
possibly damaging |
Het |
| Ap3d1 |
A |
C |
10: 80,545,609 (GRCm39) |
L1040R |
possibly damaging |
Het |
| Bag4 |
T |
A |
8: 26,259,564 (GRCm39) |
N212Y |
probably damaging |
Het |
| Bop1 |
A |
T |
15: 76,338,041 (GRCm39) |
S610T |
probably damaging |
Het |
| Car12 |
T |
G |
9: 66,624,844 (GRCm39) |
S30A |
probably benign |
Het |
| Ccdc14 |
A |
T |
16: 34,543,984 (GRCm39) |
T829S |
possibly damaging |
Het |
| Ccn6 |
T |
A |
10: 39,027,167 (GRCm39) |
*355L |
probably null |
Het |
| Cdc14a |
A |
T |
3: 116,122,274 (GRCm39) |
I231N |
probably benign |
Het |
| Ceacam14 |
A |
T |
7: 17,549,082 (GRCm39) |
I158F |
possibly damaging |
Het |
| Clca4a |
G |
T |
3: 144,667,713 (GRCm39) |
S419R |
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,960,012 (GRCm39) |
N258D |
probably benign |
Het |
| Cntn5 |
A |
C |
9: 10,048,686 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
T |
A |
9: 20,721,272 (GRCm39) |
S72C |
unknown |
Het |
| Dmbt1 |
G |
C |
7: 130,639,599 (GRCm39) |
V46L |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,376,754 (GRCm39) |
|
probably null |
Het |
| Dnase1 |
T |
C |
16: 3,857,054 (GRCm39) |
S204P |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,352,917 (GRCm39) |
E2690G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,218,075 (GRCm39) |
L1505P |
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,148,834 (GRCm39) |
L282F |
probably benign |
Het |
| E330034G19Rik |
A |
G |
14: 24,359,528 (GRCm39) |
E313G |
unknown |
Het |
| Epc1 |
A |
T |
18: 6,455,187 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
C |
9: 66,280,004 (GRCm39) |
M304T |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,750,096 (GRCm39) |
I594F |
possibly damaging |
Het |
| Hivep2 |
T |
A |
10: 14,005,828 (GRCm39) |
S809T |
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,861 (GRCm39) |
M132K |
unknown |
Het |
| Hrnr |
A |
T |
3: 93,239,696 (GRCm39) |
R3311S |
unknown |
Het |
| Jph3 |
T |
C |
8: 122,457,380 (GRCm39) |
F7L |
probably damaging |
Het |
| Med13l |
C |
T |
5: 118,868,032 (GRCm39) |
T732M |
possibly damaging |
Het |
| Mocos |
A |
T |
18: 24,828,939 (GRCm39) |
H748L |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,249,100 (GRCm39) |
H212R |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,310,175 (GRCm39) |
Y812F |
possibly damaging |
Het |
| Mthfr |
T |
C |
4: 148,132,710 (GRCm39) |
I296T |
probably damaging |
Het |
| Ncdn |
G |
A |
4: 126,642,467 (GRCm39) |
R397W |
probably damaging |
Het |
| Nefh |
G |
A |
11: 4,895,271 (GRCm39) |
T306I |
probably damaging |
Het |
| Nme7 |
C |
A |
1: 164,155,890 (GRCm39) |
A30E |
possibly damaging |
Het |
| Or52z15 |
T |
A |
7: 103,332,246 (GRCm39) |
M97K |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,043,104 (GRCm39) |
L109Q |
possibly damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,074,102 (GRCm39) |
S578G |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,297,228 (GRCm39) |
D1361E |
possibly damaging |
Het |
| Pcm1 |
T |
C |
8: 41,720,398 (GRCm39) |
S320P |
probably damaging |
Het |
| Pex19 |
T |
A |
1: 171,956,855 (GRCm39) |
F105Y |
probably damaging |
Het |
| Pgap4 |
C |
T |
4: 49,586,890 (GRCm39) |
V93I |
probably benign |
Het |
| Pggt1b |
A |
T |
18: 46,392,779 (GRCm39) |
M124K |
probably damaging |
Het |
| Phkg1 |
T |
A |
5: 129,895,807 (GRCm39) |
H148L |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,665 (GRCm39) |
I3548L |
possibly damaging |
Het |
| Plce1 |
T |
G |
19: 38,513,654 (GRCm39) |
S318A |
probably damaging |
Het |
| Plcxd2 |
A |
G |
16: 45,830,117 (GRCm39) |
W35R |
probably benign |
Het |
| Prl2b1 |
T |
A |
13: 27,569,129 (GRCm39) |
E156D |
possibly damaging |
Het |
| Ptpn21 |
A |
G |
12: 98,655,170 (GRCm39) |
V599A |
probably damaging |
Het |
| Raly |
T |
C |
2: 154,699,265 (GRCm39) |
V23A |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,643,479 (GRCm39) |
I911V |
probably damaging |
Het |
| Rhbdl1 |
A |
G |
17: 26,055,443 (GRCm39) |
V48A |
probably benign |
Het |
| Rhpn1 |
C |
T |
15: 75,582,543 (GRCm39) |
Q212* |
probably null |
Het |
| Sec24b |
G |
T |
3: 129,789,742 (GRCm39) |
P760T |
probably damaging |
Het |
| Septin8 |
C |
A |
11: 53,422,889 (GRCm39) |
Q33K |
probably damaging |
Het |
| Serpinb6a |
T |
C |
13: 34,109,346 (GRCm39) |
T150A |
probably benign |
Het |
| Shmt1 |
A |
T |
11: 60,692,329 (GRCm39) |
H142Q |
probably damaging |
Het |
| Slc27a3 |
G |
A |
3: 90,296,591 (GRCm39) |
S127L |
|
Het |
| Slc4a5 |
G |
A |
6: 83,239,466 (GRCm39) |
A242T |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,772 (GRCm39) |
T659I |
possibly damaging |
Het |
| Ssbp3 |
T |
C |
4: 106,905,224 (GRCm39) |
S381P |
probably damaging |
Het |
| Stxbp5l |
C |
T |
16: 37,165,485 (GRCm39) |
D78N |
probably benign |
Het |
| Suv39h2 |
G |
T |
2: 3,463,631 (GRCm39) |
Q362K |
probably benign |
Het |
| Tcerg1 |
G |
A |
18: 42,701,030 (GRCm39) |
R828Q |
probably damaging |
Het |
| Tgm2 |
T |
G |
2: 157,971,321 (GRCm39) |
D306A |
probably damaging |
Het |
| Tmem79 |
A |
G |
3: 88,239,931 (GRCm39) |
C260R |
possibly damaging |
Het |
| Ubn2 |
C |
A |
6: 38,466,190 (GRCm39) |
A508E |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,232,384 (GRCm39) |
H1489L |
possibly damaging |
Het |
| Wnt16 |
T |
C |
6: 22,291,114 (GRCm39) |
F181L |
probably damaging |
Het |
| Zfp326 |
T |
C |
5: 106,062,825 (GRCm39) |
F565L |
unknown |
Het |
| Zfp62 |
T |
A |
11: 49,106,297 (GRCm39) |
C129* |
probably null |
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 |
|
|
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 |
|
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'- GCTGCTGCCTGACTATCTTG -3'
(R):5'- GGGATCTACTTTCTAGAAGCAAAGTG -3'
Sequencing Primer
(F):5'- AGACTTACCATGATGACTGTCC -3'
(R):5'- GTGGAACTAGGGAATTATTCAACCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation