Incidental Mutation 'R6433:Phlpp2'
| ID |
518645 |
| 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 |
044571-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R6433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110595174-110671303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 110661317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 810
(A810S)
|
| 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: A775S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034175
Gene: ENSMUSG00000031732
AA Change: A775S
| 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 |
probably benign
Transcript: ENSMUST00000179721
AA Change: A810S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136166
Gene: ENSMUSG00000031732
AA Change: A810S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
A |
17: 14,101,561 (GRCm39) |
D1016E |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,967,017 (GRCm39) |
Q14L |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,401,421 (GRCm39) |
L1147S |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,002,642 (GRCm39) |
T337A |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,864,947 (GRCm39) |
E1358G |
probably damaging |
Het |
| Caml |
C |
A |
13: 55,771,062 (GRCm39) |
S53R |
possibly damaging |
Het |
| Cd180 |
T |
G |
13: 102,842,141 (GRCm39) |
S396A |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,866,325 (GRCm39) |
T344A |
probably damaging |
Het |
| Cyp4a31 |
A |
C |
4: 115,427,466 (GRCm39) |
D224A |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,392,395 (GRCm39) |
T544A |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,479,222 (GRCm39) |
K1528E |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,184,232 (GRCm39) |
|
probably null |
Het |
| Efl1 |
T |
A |
7: 82,323,776 (GRCm39) |
D239E |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,231 (GRCm39) |
V42A |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,337,306 (GRCm39) |
T432A |
possibly damaging |
Het |
| Fam98c |
A |
G |
7: 28,855,553 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
G |
A |
6: 91,210,254 (GRCm39) |
G66D |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,097,137 (GRCm39) |
T410I |
possibly damaging |
Het |
| Flcn |
T |
C |
11: 59,691,908 (GRCm39) |
D247G |
probably damaging |
Het |
| Galnt16 |
T |
C |
12: 80,622,677 (GRCm39) |
V127A |
probably benign |
Het |
| H2-Ob |
A |
T |
17: 34,462,860 (GRCm39) |
|
probably null |
Het |
| Has2 |
G |
A |
15: 56,531,194 (GRCm39) |
S507F |
possibly damaging |
Het |
| Ido2 |
T |
A |
8: 25,023,939 (GRCm39) |
M300L |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,565,357 (GRCm39) |
|
probably null |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,844,250 (GRCm39) |
V299A |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,396,217 (GRCm39) |
D210G |
probably damaging |
Het |
| Ndrg1 |
A |
T |
15: 66,805,721 (GRCm39) |
M128K |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,942,384 (GRCm39) |
T5091S |
probably benign |
Het |
| Or2j3 |
A |
G |
17: 38,616,304 (GRCm39) |
L16P |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,390,572 (GRCm39) |
M91K |
possibly damaging |
Het |
| Pla2g7 |
G |
C |
17: 43,910,017 (GRCm39) |
A174P |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
| Poll |
A |
T |
19: 45,542,043 (GRCm39) |
M421K |
probably benign |
Het |
| Ppfia2 |
C |
A |
10: 106,749,559 (GRCm39) |
S1148R |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 30,758,746 (GRCm39) |
F280S |
probably benign |
Het |
| Rdh10 |
G |
A |
1: 16,178,079 (GRCm39) |
C117Y |
probably damaging |
Het |
| Rtl1 |
C |
A |
12: 109,561,630 (GRCm39) |
A70S |
unknown |
Het |
| Scgb2b3 |
A |
T |
7: 31,058,492 (GRCm39) |
L104I |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,863,941 (GRCm39) |
R749G |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 112,003,707 (GRCm39) |
K380R |
probably benign |
Het |
| Smtnl1 |
A |
C |
2: 84,648,712 (GRCm39) |
S181A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,864,999 (GRCm39) |
S716P |
probably damaging |
Het |
| Spc25 |
A |
G |
2: 69,036,446 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,737,431 (GRCm39) |
|
probably null |
Het |
| Timm22 |
T |
C |
11: 76,300,570 (GRCm39) |
V114A |
possibly damaging |
Het |
| Timp4 |
A |
G |
6: 115,224,181 (GRCm39) |
C163R |
probably damaging |
Het |
| Toporsl |
T |
A |
4: 52,611,548 (GRCm39) |
N480K |
possibly damaging |
Het |
| Tpo |
T |
C |
12: 30,134,753 (GRCm39) |
E735G |
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,878,669 (GRCm39) |
D692G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,582,058 (GRCm39) |
H22945R |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,454,801 (GRCm39) |
Y499* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,226 (GRCm39) |
H191Y |
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 |
|
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'- TGTTCTCCTACATCAGAGCCAC -3'
(R):5'- CATGGCTTTAGAAGGACTTTATCTC -3'
Sequencing Primer
(F):5'- CTTGGATTCATTCTTCCTGGAAATG -3'
(R):5'- ATCTCATGCTGAAGCTCTGAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation