Incidental Mutation 'R7801:Phlpp2'
ID |
600535 |
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 |
045856-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.249)
|
Stock # |
R7801 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
110595174-110671303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 110652474 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 606
(V606G)
|
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: V571G
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000034175 Gene: ENSMUSG00000031732 AA Change: V571G
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: V606G
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000136166 Gene: ENSMUSG00000031732 AA Change: V606G
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 |
0.4543 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (47/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
A |
G |
1: 89,558,207 (GRCm39) |
Y165C |
probably damaging |
Het |
Agbl3 |
A |
T |
6: 34,816,300 (GRCm39) |
T742S |
probably benign |
Het |
Arhgef10l |
T |
C |
4: 140,271,578 (GRCm39) |
T651A |
probably benign |
Het |
Arsb |
T |
A |
13: 93,998,835 (GRCm39) |
I381N |
probably damaging |
Het |
Blzf1 |
A |
G |
1: 164,123,478 (GRCm39) |
V283A |
probably benign |
Het |
Cadps |
C |
T |
14: 12,489,476 (GRCm38) |
|
probably null |
Het |
Casz1 |
A |
T |
4: 149,022,706 (GRCm39) |
T591S |
probably damaging |
Het |
Ccne2 |
T |
C |
4: 11,194,079 (GRCm39) |
|
probably null |
Het |
Chst9 |
T |
C |
18: 15,585,334 (GRCm39) |
T410A |
probably benign |
Het |
Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
Fam234a |
T |
C |
17: 26,437,172 (GRCm39) |
D169G |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,495,260 (GRCm39) |
P4116L |
probably damaging |
Het |
Fbxo21 |
G |
T |
5: 118,124,189 (GRCm39) |
A166S |
probably damaging |
Het |
Gbf1 |
A |
G |
19: 46,261,082 (GRCm39) |
I1216V |
probably benign |
Het |
Gper1 |
G |
A |
5: 139,412,443 (GRCm39) |
A263T |
probably benign |
Het |
Hdlbp |
G |
T |
1: 93,358,029 (GRCm39) |
|
probably null |
Het |
Ighg3 |
A |
T |
12: 113,323,436 (GRCm39) |
L280Q |
|
Het |
Impa1 |
T |
C |
3: 10,386,727 (GRCm39) |
T171A |
probably benign |
Het |
Ints7 |
T |
A |
1: 191,347,859 (GRCm39) |
Y744N |
possibly damaging |
Het |
Irgc |
G |
T |
7: 24,131,959 (GRCm39) |
A286D |
probably damaging |
Het |
Kif18a |
T |
C |
2: 109,118,190 (GRCm39) |
S2P |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,302,064 (GRCm39) |
W813R |
probably damaging |
Het |
Mapkbp1 |
T |
G |
2: 119,842,554 (GRCm39) |
H157Q |
probably damaging |
Het |
Mfsd4b2 |
T |
A |
10: 39,799,777 (GRCm39) |
M42L |
probably benign |
Het |
Mon2 |
A |
G |
10: 122,895,091 (GRCm39) |
|
probably null |
Het |
Myrfl |
T |
A |
10: 116,684,240 (GRCm39) |
H161L |
probably benign |
Het |
Or2aj6 |
T |
C |
16: 19,443,373 (GRCm39) |
H159R |
probably damaging |
Het |
Or7g19 |
A |
C |
9: 18,856,555 (GRCm39) |
S204R |
probably damaging |
Het |
Psmb5 |
T |
C |
14: 54,854,212 (GRCm39) |
T89A |
probably benign |
Het |
Ptpn9 |
A |
G |
9: 56,968,297 (GRCm39) |
T546A |
probably benign |
Het |
Qrfprl |
T |
A |
6: 65,418,201 (GRCm39) |
V123D |
probably damaging |
Het |
Rabep2 |
A |
G |
7: 126,037,584 (GRCm39) |
M146V |
possibly damaging |
Het |
Rptn |
G |
A |
3: 93,305,531 (GRCm39) |
E955K |
possibly damaging |
Het |
Samd3 |
G |
T |
10: 26,139,770 (GRCm39) |
V301F |
possibly damaging |
Het |
Sh2b1 |
C |
A |
7: 126,070,464 (GRCm39) |
C380F |
probably benign |
Het |
Shank1 |
A |
G |
7: 44,001,022 (GRCm39) |
M914V |
unknown |
Het |
Sox2 |
G |
A |
3: 34,704,791 (GRCm39) |
R76H |
probably damaging |
Het |
Stat5a |
T |
C |
11: 100,771,143 (GRCm39) |
F574S |
probably damaging |
Het |
Tbx5 |
A |
G |
5: 119,975,064 (GRCm39) |
E29G |
probably benign |
Het |
Trpm5 |
A |
C |
7: 142,638,978 (GRCm39) |
D264E |
probably damaging |
Het |
Zfp442 |
T |
C |
2: 150,251,639 (GRCm39) |
S88G |
probably benign |
Het |
Zfp62 |
T |
A |
11: 49,108,155 (GRCm39) |
F749I |
possibly damaging |
Het |
Zfp677 |
T |
A |
17: 21,618,277 (GRCm39) |
S445T |
probably damaging |
Het |
Zfp979 |
A |
C |
4: 147,698,435 (GRCm39) |
N91K |
probably damaging |
Het |
Zfyve9 |
A |
G |
4: 108,542,192 (GRCm39) |
V209A |
possibly damaging |
Het |
Zic4 |
G |
T |
9: 91,266,297 (GRCm39) |
A314S |
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 |
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 |
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'- CTTGGCTCAGTCACTTGTCAG -3'
(R):5'- GGCTGAAATCATCTACCACATACATG -3'
Sequencing Primer
(F):5'- CAGTGGTTGCATATTTTAAAAGTAGG -3'
(R):5'- CTACCACATACATGATTAAGTACTGG -3'
|
Posted On |
2019-11-26 |