Incidental Mutation 'R2075:Phlpp2'
ID |
227531 |
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 |
040080-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R2075 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
110595174-110671303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 110655124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 605
(S605P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034175]
[ENSMUST00000179721]
|
AlphaFold |
Q8BXA7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034175
AA Change: S605P
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000034175 Gene: ENSMUSG00000031732 AA Change: S605P
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: ENSMUST00000149990
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179721
AA Change: S640P
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136166 Gene: ENSMUSG00000031732 AA Change: S640P
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,472,382 (GRCm39) |
F4263L |
probably damaging |
Het |
Aebp2 |
G |
A |
6: 140,579,420 (GRCm39) |
S219N |
probably benign |
Het |
Anln |
C |
A |
9: 22,244,464 (GRCm39) |
W1083L |
probably benign |
Het |
Atic |
T |
A |
1: 71,615,286 (GRCm39) |
D438E |
probably benign |
Het |
Bahcc1 |
G |
A |
11: 120,162,515 (GRCm39) |
C271Y |
probably damaging |
Het |
Btbd17 |
A |
T |
11: 114,682,778 (GRCm39) |
|
probably null |
Het |
Ccdc122 |
T |
C |
14: 77,306,391 (GRCm39) |
|
probably null |
Het |
Ccdc149 |
A |
G |
5: 52,596,510 (GRCm39) |
L34P |
probably damaging |
Het |
Cd22 |
C |
G |
7: 30,569,123 (GRCm39) |
C637S |
probably damaging |
Het |
Ces1a |
T |
A |
8: 93,774,703 (GRCm39) |
N12Y |
probably benign |
Het |
Chmp1a |
A |
T |
8: 123,934,761 (GRCm39) |
M65K |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,559,480 (GRCm39) |
A918T |
probably benign |
Het |
Clec2m |
C |
T |
6: 129,303,666 (GRCm39) |
E100K |
probably benign |
Het |
Cnot1 |
G |
T |
8: 96,466,461 (GRCm39) |
T1592K |
possibly damaging |
Het |
Ddx10 |
A |
T |
9: 53,151,805 (GRCm39) |
D73E |
probably benign |
Het |
Dhx32 |
T |
C |
7: 133,323,021 (GRCm39) |
N731S |
probably benign |
Het |
Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,805,601 (GRCm39) |
Q946R |
probably benign |
Het |
Dnai4 |
G |
A |
4: 102,907,390 (GRCm39) |
T632M |
probably damaging |
Het |
Duox2 |
T |
A |
2: 122,125,639 (GRCm39) |
S323C |
probably damaging |
Het |
Esr2 |
A |
G |
12: 76,212,221 (GRCm39) |
|
probably null |
Het |
Fbxo9 |
G |
T |
9: 77,991,798 (GRCm39) |
H397N |
possibly damaging |
Het |
Fsip2 |
T |
A |
2: 82,818,923 (GRCm39) |
N4885K |
possibly damaging |
Het |
Gm12695 |
T |
C |
4: 96,612,182 (GRCm39) |
Y527C |
possibly damaging |
Het |
Hivep1 |
A |
G |
13: 42,309,794 (GRCm39) |
D678G |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,453,074 (GRCm39) |
I5414F |
possibly damaging |
Het |
Hspb2 |
T |
C |
9: 50,662,646 (GRCm39) |
Y67C |
probably benign |
Het |
Kbtbd8 |
T |
A |
6: 95,103,664 (GRCm39) |
C438S |
possibly damaging |
Het |
Kif5a |
T |
C |
10: 127,081,238 (GRCm39) |
D232G |
probably damaging |
Het |
Ky |
A |
G |
9: 102,419,945 (GRCm39) |
S651G |
probably damaging |
Het |
Lgals12 |
T |
C |
19: 7,576,210 (GRCm39) |
D238G |
possibly damaging |
Het |
Lpcat3 |
T |
A |
6: 124,680,066 (GRCm39) |
Y380N |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,716,058 (GRCm39) |
H2080R |
probably benign |
Het |
Mex3c |
C |
T |
18: 73,722,840 (GRCm39) |
S311L |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,315,915 (GRCm39) |
Y90* |
probably null |
Het |
Mpped2 |
T |
A |
2: 106,575,147 (GRCm39) |
Y77* |
probably null |
Het |
Myo5a |
A |
T |
9: 75,097,200 (GRCm39) |
T49S |
probably benign |
Het |
Nsd1 |
T |
C |
13: 55,458,313 (GRCm39) |
V2142A |
possibly damaging |
Het |
Or4a74 |
A |
G |
2: 89,439,822 (GRCm39) |
V208A |
probably benign |
Het |
Or51b17 |
T |
A |
7: 103,542,127 (GRCm39) |
I272F |
probably damaging |
Het |
Or51i2 |
T |
A |
7: 103,689,180 (GRCm39) |
M59K |
probably damaging |
Het |
Or5ac19 |
T |
C |
16: 59,089,274 (GRCm39) |
Y252C |
possibly damaging |
Het |
Pdgfra |
T |
C |
5: 75,348,609 (GRCm39) |
I883T |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,385,905 (GRCm39) |
L955P |
probably damaging |
Het |
Phf24 |
A |
G |
4: 42,939,507 (GRCm39) |
Y333C |
possibly damaging |
Het |
Piezo2 |
C |
T |
18: 63,214,805 (GRCm39) |
E1263K |
probably damaging |
Het |
Pitrm1 |
A |
G |
13: 6,605,419 (GRCm39) |
T149A |
probably damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,422,035 (GRCm39) |
A3102S |
probably damaging |
Het |
Plch2 |
A |
T |
4: 155,074,366 (GRCm39) |
L754Q |
probably damaging |
Het |
Polr2c |
A |
G |
8: 95,590,195 (GRCm39) |
I267V |
probably benign |
Het |
Potefam1 |
T |
C |
2: 111,030,763 (GRCm39) |
E382G |
probably damaging |
Het |
Prss8 |
C |
A |
7: 127,526,266 (GRCm39) |
R148L |
possibly damaging |
Het |
Ptpn2 |
T |
A |
18: 67,814,545 (GRCm39) |
T155S |
probably damaging |
Het |
Ptprn2 |
G |
A |
12: 117,211,337 (GRCm39) |
V839I |
probably benign |
Het |
Sbp |
A |
G |
17: 24,164,132 (GRCm39) |
|
probably null |
Het |
Sec16a |
A |
G |
2: 26,330,251 (GRCm39) |
I588T |
probably damaging |
Het |
Six2 |
A |
G |
17: 85,994,933 (GRCm39) |
S150P |
probably damaging |
Het |
Slc5a5 |
C |
T |
8: 71,345,083 (GRCm39) |
G75R |
possibly damaging |
Het |
Slc6a20b |
T |
A |
9: 123,424,099 (GRCm39) |
T623S |
probably benign |
Het |
Sqle |
T |
A |
15: 59,195,750 (GRCm39) |
V342E |
probably damaging |
Het |
Stk3 |
T |
C |
15: 34,959,195 (GRCm39) |
M256V |
possibly damaging |
Het |
Tek |
A |
G |
4: 94,715,966 (GRCm39) |
I463V |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tnc |
G |
A |
4: 63,913,903 (GRCm39) |
T1303M |
possibly damaging |
Het |
Traf6 |
A |
C |
2: 101,527,398 (GRCm39) |
I383L |
probably benign |
Het |
Tubb3 |
C |
T |
8: 124,148,009 (GRCm39) |
A314V |
probably damaging |
Het |
Vmn1r199 |
A |
T |
13: 22,567,435 (GRCm39) |
Y243F |
probably damaging |
Het |
Vmn2r111 |
A |
C |
17: 22,778,043 (GRCm39) |
N545K |
probably damaging |
Het |
Vmn2r27 |
T |
A |
6: 124,177,510 (GRCm39) |
Q498L |
possibly damaging |
Het |
Vstm4 |
A |
T |
14: 32,639,811 (GRCm39) |
S229C |
probably damaging |
Het |
Wdr12 |
C |
T |
1: 60,130,222 (GRCm39) |
R63Q |
possibly damaging |
Het |
Wrn |
T |
A |
8: 33,812,357 (GRCm39) |
I187L |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,340,545 (GRCm39) |
I929L |
probably benign |
Het |
Ywhae |
T |
A |
11: 75,655,486 (GRCm39) |
D252E |
probably benign |
Het |
Zfp944 |
A |
T |
17: 22,558,178 (GRCm39) |
C356* |
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 |
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 |
PCR Primer
(F):5'- CATGCAGCCATTACAGAATGCTAG -3'
(R):5'- TCACTCACCTTGCAGGGAAG -3'
Sequencing Primer
(F):5'- GAAAAATAGCCATGCCTGTGTTCC -3'
(R):5'- TCACCTTGCAGGGAAGGTCTG -3'
|
Posted On |
2014-09-17 |