Incidental Mutation 'R6440:Plekha2'
| ID |
518976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekha2
|
| Ensembl Gene |
ENSMUSG00000031557 |
| Gene Name |
pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2 |
| Synonyms |
TAPP2, 6430512N22Rik |
| MMRRC Submission |
044578-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
25529160-25592392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25578413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 29
(Y29C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122564
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064883]
[ENSMUST00000098866]
[ENSMUST00000125466]
[ENSMUST00000128715]
|
| AlphaFold |
Q9ERS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064883
AA Change: Y29C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066546
Gene: ENSMUSG00000031557
AA Change: Y29C
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
8 |
115 |
3.11e-10 |
SMART |
|
PH
|
199 |
300 |
1.91e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098866
AA Change: Y29C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096464
Gene: ENSMUSG00000031557
AA Change: Y29C
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
8 |
115 |
3.11e-10 |
SMART |
|
PH
|
199 |
300 |
1.91e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125466
AA Change: Y29C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116764
Gene: ENSMUSG00000031557
AA Change: Y29C
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V5P|A
|
1 |
95 |
4e-68 |
PDB |
|
Blast:PH
|
8 |
95 |
9e-61 |
BLAST |
|
SCOP:d1eaza_
|
11 |
95 |
1e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128715
AA Change: Y29C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122564
Gene: ENSMUSG00000031557
AA Change: Y29C
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
8 |
115 |
3.11e-10 |
SMART |
|
PH
|
199 |
300 |
1.91e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211708
|
| Meta Mutation Damage Score |
0.7459 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.7%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-in allele are viable. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,101,744 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
C |
T |
5: 81,942,341 (GRCm39) |
Q684* |
probably null |
Het |
| Ahi1 |
T |
A |
10: 20,835,981 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,133,631 (GRCm39) |
T1070A |
probably damaging |
Het |
| B3gnt9 |
C |
T |
8: 105,980,531 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
G |
T |
6: 122,827,467 (GRCm39) |
A250E |
probably damaging |
Het |
| Caprin2 |
A |
G |
6: 148,771,143 (GRCm39) |
F284L |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,710,566 (GRCm39) |
I90T |
probably benign |
Het |
| Cdh9 |
A |
T |
15: 16,823,509 (GRCm39) |
T164S |
probably benign |
Het |
| Ces2a |
C |
T |
8: 105,467,954 (GRCm39) |
A528V |
probably benign |
Het |
| Cyp2c70 |
T |
C |
19: 40,145,250 (GRCm39) |
N402S |
possibly damaging |
Het |
| F3 |
A |
G |
3: 121,518,686 (GRCm39) |
E50G |
probably damaging |
Het |
| Fli1 |
A |
T |
9: 32,335,197 (GRCm39) |
S412T |
probably benign |
Het |
| Flt1 |
T |
A |
5: 147,501,115 (GRCm39) |
D1306V |
possibly damaging |
Het |
| Ggt7 |
T |
C |
2: 155,340,731 (GRCm39) |
D424G |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,230,981 (GRCm39) |
N468I |
probably damaging |
Het |
| Htr5a |
T |
A |
5: 28,055,870 (GRCm39) |
V287E |
probably damaging |
Het |
| Map3k21 |
T |
C |
8: 126,637,876 (GRCm39) |
V154A |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,552,655 (GRCm39) |
V4546A |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,147,516 (GRCm39) |
Y121C |
probably damaging |
Het |
| Nckap1l |
C |
A |
15: 103,379,659 (GRCm39) |
Y315* |
probably null |
Het |
| Ntpcr |
T |
A |
8: 126,471,981 (GRCm39) |
S64T |
probably damaging |
Het |
| Or1e1c |
A |
T |
11: 73,266,173 (GRCm39) |
E202D |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,637,837 (GRCm39) |
S186P |
probably damaging |
Het |
| Or7e175 |
T |
C |
9: 20,048,490 (GRCm39) |
F26S |
probably damaging |
Het |
| Pate9 |
T |
A |
9: 36,453,168 (GRCm39) |
M1L |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,674,902 (GRCm39) |
C5R |
probably damaging |
Het |
| Pgap2 |
T |
A |
7: 101,886,594 (GRCm39) |
|
probably null |
Het |
| Pik3r6 |
T |
C |
11: 68,424,522 (GRCm39) |
W376R |
probably benign |
Het |
| Pms1 |
T |
C |
1: 53,234,180 (GRCm39) |
K779E |
probably damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,330 (GRCm39) |
V98A |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,713,010 (GRCm39) |
D1287N |
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,426,997 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
A |
T |
1: 45,964,422 (GRCm39) |
M1K |
probably null |
Het |
| Smo |
A |
G |
6: 29,756,813 (GRCm39) |
H437R |
possibly damaging |
Het |
| Sult3a1 |
T |
C |
10: 33,746,198 (GRCm39) |
Y173H |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,116,555 (GRCm39) |
R898S |
possibly damaging |
Het |
| Synpo2l |
A |
G |
14: 20,718,244 (GRCm39) |
V7A |
probably damaging |
Het |
| Thsd1 |
C |
T |
8: 22,748,569 (GRCm39) |
A427V |
possibly damaging |
Het |
| Tnfrsf17 |
G |
A |
16: 11,137,754 (GRCm39) |
G164S |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,040 (GRCm39) |
K153R |
probably damaging |
Het |
|
| Other mutations in Plekha2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Plekha2
|
APN |
8 |
25,547,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02123:Plekha2
|
APN |
8 |
25,532,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
abstruse
|
UTSW |
8 |
25,578,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Byzantine
|
UTSW |
8 |
25,578,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Complexity
|
UTSW |
8 |
25,547,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Elaborate
|
UTSW |
8 |
25,533,063 (GRCm39) |
splice site |
probably null |
|
|
R1178:Plekha2
|
UTSW |
8 |
25,549,218 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1181:Plekha2
|
UTSW |
8 |
25,549,218 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1668:Plekha2
|
UTSW |
8 |
25,562,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1722:Plekha2
|
UTSW |
8 |
25,532,976 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2153:Plekha2
|
UTSW |
8 |
25,578,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Plekha2
|
UTSW |
8 |
25,533,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Plekha2
|
UTSW |
8 |
25,533,685 (GRCm39) |
nonsense |
probably null |
|
|
R4604:Plekha2
|
UTSW |
8 |
25,549,851 (GRCm39) |
missense |
probably null |
1.00 |
|
R4791:Plekha2
|
UTSW |
8 |
25,532,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4817:Plekha2
|
UTSW |
8 |
25,549,960 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5344:Plekha2
|
UTSW |
8 |
25,533,063 (GRCm39) |
splice site |
probably null |
|
|
R5670:Plekha2
|
UTSW |
8 |
25,549,254 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5892:Plekha2
|
UTSW |
8 |
25,542,381 (GRCm39) |
missense |
probably benign |
|
|
R6970:Plekha2
|
UTSW |
8 |
25,549,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7157:Plekha2
|
UTSW |
8 |
25,553,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Plekha2
|
UTSW |
8 |
25,578,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7674:Plekha2
|
UTSW |
8 |
25,547,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Plekha2
|
UTSW |
8 |
25,578,356 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8048:Plekha2
|
UTSW |
8 |
25,554,005 (GRCm39) |
splice site |
probably benign |
|
|
R8359:Plekha2
|
UTSW |
8 |
25,578,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Plekha2
|
UTSW |
8 |
25,547,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCGGAAGGTCTCTTACTTC -3'
(R):5'- GAGCCTAGCATGTCACAGAG -3'
Sequencing Primer
(F):5'- ACTTCTTACAGAGGTCCCTTGAGAG -3'
(R):5'- CCTAGCATGTCACAGAGATGAGTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation