Incidental Mutation 'IGL02011:Plcxd2'
| ID |
183364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Plcxd2
|
| Ensembl Gene |
ENSMUSG00000087141 |
| Gene Name |
phosphatidylinositol-specific phospholipase C, X domain containing 2 |
| Synonyms |
EG433022 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
IGL02011
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
45779626-45830581 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45785454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 317
(D317G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000130481]
|
| AlphaFold |
B2RXA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130481
AA Change: D317G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114852
Gene: ENSMUSG00000087141
AA Change: D317G
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2ptd__
|
27 |
329 |
3e-71 |
SMART |
|
PDB:1AOD|A
|
28 |
160 |
6e-8 |
PDB |
|
Blast:PLCXc
|
46 |
212 |
3e-17 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154775
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
T |
A |
14: 49,318,592 (GRCm39) |
|
probably benign |
Het |
| Arg1 |
T |
C |
10: 24,792,275 (GRCm39) |
T215A |
probably benign |
Het |
| Arhgap15 |
A |
T |
2: 43,670,767 (GRCm39) |
K50N |
probably damaging |
Het |
| Ctdsp1 |
C |
T |
1: 74,433,175 (GRCm39) |
|
probably benign |
Het |
| Cwc22 |
A |
T |
2: 77,751,366 (GRCm39) |
D363E |
possibly damaging |
Het |
| Drd2 |
G |
T |
9: 49,318,258 (GRCm39) |
C400F |
probably damaging |
Het |
| Eef1akmt1 |
A |
T |
14: 57,795,555 (GRCm39) |
Y65N |
probably damaging |
Het |
| Gbp10 |
C |
A |
5: 105,368,967 (GRCm39) |
G291W |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,784,280 (GRCm39) |
V536E |
probably damaging |
Het |
| Or4d1 |
C |
A |
11: 87,805,708 (GRCm39) |
W8L |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,056 (GRCm39) |
R265L |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,621 (GRCm39) |
Y127N |
probably damaging |
Het |
| Pcdh12 |
C |
T |
18: 38,414,473 (GRCm39) |
G884D |
probably damaging |
Het |
| Pih1d1 |
G |
T |
7: 44,806,156 (GRCm39) |
A31S |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,717,565 (GRCm39) |
F231S |
probably damaging |
Het |
| Raet1d |
T |
A |
10: 22,247,473 (GRCm39) |
I183K |
probably damaging |
Het |
| Scaper |
A |
G |
9: 55,487,606 (GRCm39) |
F752S |
probably damaging |
Het |
| Shisa9 |
C |
T |
16: 12,062,502 (GRCm39) |
T241I |
possibly damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Unkl |
T |
A |
17: 25,437,565 (GRCm39) |
V365E |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,421,554 (GRCm39) |
S3077F |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,283,399 (GRCm39) |
I566V |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,421,717 (GRCm39) |
T414S |
probably benign |
Het |
| Xpnpep1 |
A |
T |
19: 52,990,896 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,087,035 (GRCm39) |
Q288R |
probably damaging |
Het |
|
| Other mutations in Plcxd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01658:Plcxd2
|
APN |
16 |
45,785,424 (GRCm39) |
missense |
probably benign |
|
|
IGL02079:Plcxd2
|
APN |
16 |
45,792,706 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02658:Plcxd2
|
APN |
16 |
45,792,689 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03082:Plcxd2
|
APN |
16 |
45,785,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1patch:Plcxd2
|
UTSW |
16 |
45,792,488 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0137:Plcxd2
|
UTSW |
16 |
45,800,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0173:Plcxd2
|
UTSW |
16 |
45,785,542 (GRCm39) |
splice site |
probably null |
|
|
R0276:Plcxd2
|
UTSW |
16 |
45,830,070 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0453:Plcxd2
|
UTSW |
16 |
45,800,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3848:Plcxd2
|
UTSW |
16 |
45,792,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3963:Plcxd2
|
UTSW |
16 |
45,800,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4820:Plcxd2
|
UTSW |
16 |
45,800,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4915:Plcxd2
|
UTSW |
16 |
45,800,941 (GRCm39) |
nonsense |
probably null |
|
|
R5293:Plcxd2
|
UTSW |
16 |
45,800,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6477:Plcxd2
|
UTSW |
16 |
45,801,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6629:Plcxd2
|
UTSW |
16 |
45,785,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6725:Plcxd2
|
UTSW |
16 |
45,792,488 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6845:Plcxd2
|
UTSW |
16 |
45,830,223 (GRCm39) |
start gained |
probably benign |
|
|
R6953:Plcxd2
|
UTSW |
16 |
45,800,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Plcxd2
|
UTSW |
16 |
45,800,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7711:Plcxd2
|
UTSW |
16 |
45,800,693 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7821:Plcxd2
|
UTSW |
16 |
45,785,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7875:Plcxd2
|
UTSW |
16 |
45,830,065 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8500:Plcxd2
|
UTSW |
16 |
45,800,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Plcxd2
|
UTSW |
16 |
45,830,117 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Posted On |
2014-05-07 |
Incidental Mutation