Incidental Mutation 'R7183:Phlpp2'
| ID |
559112 |
| 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 |
045235-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R7183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110595174-110671303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 110666585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 1038
(P1038Q)
|
| 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: P1003Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: P1003Q
| 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: P1038Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: P1038Q
| 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: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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 |
|---|
| Actn1 |
T |
A |
12: 80,215,706 (GRCm39) |
M816L |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,995,032 (GRCm39) |
F5439L |
probably damaging |
Het |
| Apba2 |
G |
A |
7: 64,383,293 (GRCm39) |
D369N |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,097,679 (GRCm39) |
N228D |
probably benign |
Het |
| Arhgap33 |
T |
A |
7: 30,225,296 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
C |
T |
11: 94,330,563 (GRCm39) |
C984Y |
probably benign |
Het |
| Cadm2 |
C |
A |
16: 66,679,720 (GRCm39) |
G47* |
probably null |
Het |
| Ccdc125 |
A |
G |
13: 100,826,866 (GRCm39) |
D241G |
possibly damaging |
Het |
| Ccdc39 |
T |
G |
3: 33,868,620 (GRCm39) |
E822A |
probably damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
A |
G |
19: 6,360,827 (GRCm39) |
D195G |
probably damaging |
Het |
| Cdkl1 |
T |
C |
12: 69,795,706 (GRCm39) |
R275G |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,756,630 (GRCm39) |
N411S |
possibly damaging |
Het |
| Cir1 |
A |
G |
2: 73,116,730 (GRCm39) |
V210A |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,552,093 (GRCm39) |
|
probably null |
Het |
| Crmp1 |
C |
A |
5: 37,446,161 (GRCm39) |
H606N |
probably benign |
Het |
| Cyp2j8 |
A |
T |
4: 96,367,418 (GRCm39) |
N233K |
probably damaging |
Het |
| Dennd1b |
A |
T |
1: 139,097,990 (GRCm39) |
Q677L |
unknown |
Het |
| Dnah17 |
G |
A |
11: 118,020,014 (GRCm39) |
T11I |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,347,684 (GRCm39) |
H346R |
probably benign |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
| Emc3 |
G |
T |
6: 113,508,345 (GRCm39) |
Y33* |
probably null |
Het |
| Ercc5 |
A |
T |
1: 44,200,968 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
G |
T |
1: 44,200,969 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
C |
9: 15,834,133 (GRCm39) |
I4153S |
possibly damaging |
Het |
| Fn3krp |
T |
C |
11: 121,312,431 (GRCm39) |
|
probably null |
Het |
| Gmnc |
C |
T |
16: 26,779,279 (GRCm39) |
D249N |
probably benign |
Het |
| Gsn |
C |
T |
2: 35,184,960 (GRCm39) |
A305V |
probably benign |
Het |
| Haus6 |
A |
T |
4: 86,501,989 (GRCm39) |
H627Q |
possibly damaging |
Het |
| Heg1 |
A |
G |
16: 33,558,920 (GRCm39) |
|
probably null |
Het |
| Hoxd9 |
G |
T |
2: 74,528,709 (GRCm39) |
V104L |
possibly damaging |
Het |
| Igkv10-96 |
A |
C |
6: 68,609,200 (GRCm39) |
S32A |
probably benign |
Het |
| Kcnd2 |
G |
A |
6: 21,216,436 (GRCm39) |
V47M |
probably damaging |
Het |
| Mab21l3 |
C |
T |
3: 101,722,469 (GRCm39) |
V386M |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,696,614 (GRCm39) |
S404G |
probably benign |
Het |
| Or5b102 |
A |
G |
19: 13,041,680 (GRCm39) |
I302V |
probably benign |
Het |
| Or5m12 |
T |
A |
2: 85,734,486 (GRCm39) |
Q304L |
probably benign |
Het |
| Or7g20 |
G |
T |
9: 18,946,628 (GRCm39) |
D70Y |
probably damaging |
Het |
| P4htm |
A |
T |
9: 108,459,059 (GRCm39) |
M291K |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,121,538 (GRCm39) |
S49P |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,025,553 (GRCm39) |
V314A |
probably benign |
Het |
| Pfkl |
G |
A |
10: 77,837,916 (GRCm39) |
R31* |
probably null |
Het |
| Pik3c2b |
T |
C |
1: 132,994,203 (GRCm39) |
S56P |
probably benign |
Het |
| Plec |
A |
G |
15: 76,089,905 (GRCm39) |
V145A |
unknown |
Het |
| Prg3 |
G |
A |
2: 84,821,848 (GRCm39) |
V158I |
probably benign |
Het |
| Prg3 |
G |
T |
2: 84,823,367 (GRCm39) |
D181Y |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,161 (GRCm39) |
T370A |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rubcnl |
T |
A |
14: 75,287,066 (GRCm39) |
M578K |
probably damaging |
Het |
| Siae |
G |
A |
9: 37,528,242 (GRCm39) |
V72M |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,660,511 (GRCm39) |
D1864E |
probably benign |
Het |
| Smox |
T |
C |
2: 131,362,486 (GRCm39) |
I255T |
possibly damaging |
Het |
| Spata31e2 |
G |
A |
1: 26,721,914 (GRCm39) |
L1089F |
probably benign |
Het |
| Tas2r123 |
A |
G |
6: 132,824,661 (GRCm39) |
N186S |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,910,378 (GRCm39) |
I74F |
possibly damaging |
Het |
| Timm44 |
T |
C |
8: 4,317,311 (GRCm39) |
D238G |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,112,185 (GRCm39) |
|
probably null |
Het |
| Tnc |
A |
G |
4: 63,931,365 (GRCm39) |
S782P |
probably damaging |
Het |
| Tpr |
A |
T |
1: 150,282,302 (GRCm39) |
K336N |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,257,049 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,440 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,673,278 (GRCm39) |
Q436R |
probably null |
Het |
| Ywhaq |
T |
C |
12: 21,466,870 (GRCm39) |
K75E |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 67,665,593 (GRCm39) |
S290P |
probably 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 |
|
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 |
|
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 |
PCR Primer
(F):5'- GTGAACGGAGTAACCTGCTG -3'
(R):5'- AGGCAATCCCACTACTGGAG -3'
Sequencing Primer
(F):5'- AGTAACCTGCTGCACCCG -3'
(R):5'- CAATCCCACTACTGGAGGAGGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation