Incidental Mutation 'IGL00515:Pabir1'
| ID |
5678 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pabir1
|
| Ensembl Gene |
ENSMUSG00000074922 |
| Gene Name |
PP2A A alpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 |
| Synonyms |
Gm9849, 2900009I07Rik, Fam122a, 2410124L17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.500)
|
| Stock # |
IGL00515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
24453866-24454720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24453996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 242
(D242G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025800]
[ENSMUST00000099556]
[ENSMUST00000112673]
|
| AlphaFold |
Q9DB52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025800
|
| SMART Domains |
Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
| Domain | Start | End | E-Value | Type |
|---|
|
PIPKc
|
53 |
396 |
1.1e-159 |
SMART |
|
low complexity region
|
472 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099556
AA Change: D242G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097152
Gene: ENSMUSG00000074922
AA Change: D242G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112673
|
| SMART Domains |
Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
| Domain | Start | End | E-Value | Type |
|---|
|
PIPKc
|
53 |
396 |
1.1e-159 |
SMART |
|
low complexity region
|
420 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156814
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
C |
8: 71,909,963 (GRCm39) |
E395G |
probably damaging |
Het |
| Agbl2 |
T |
C |
2: 90,624,304 (GRCm39) |
V188A |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,108,979 (GRCm39) |
L1225P |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,662,746 (GRCm39) |
N372K |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,947,865 (GRCm39) |
D1650G |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,072,382 (GRCm39) |
R706Q |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,409,265 (GRCm39) |
N1886I |
possibly damaging |
Het |
| Foxp2 |
A |
T |
6: 15,403,818 (GRCm39) |
H390L |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,080 (GRCm39) |
S227P |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,562,336 (GRCm39) |
T148A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,874,799 (GRCm39) |
W1898* |
probably null |
Het |
| Hmgxb4 |
C |
A |
8: 75,727,539 (GRCm39) |
P174Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,617,967 (GRCm39) |
|
probably null |
Het |
| Lef1 |
A |
G |
3: 130,997,926 (GRCm39) |
R312G |
probably damaging |
Het |
| Mast2 |
G |
T |
4: 116,168,526 (GRCm39) |
R805S |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,395 (GRCm39) |
R1181K |
probably benign |
Het |
| Nfatc1 |
G |
T |
18: 80,710,241 (GRCm39) |
H508Q |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,102,370 (GRCm39) |
T76A |
probably benign |
Het |
| Rln1 |
C |
T |
19: 29,309,414 (GRCm39) |
V122I |
possibly damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,094,428 (GRCm39) |
I198V |
probably benign |
Het |
| Slco1c1 |
G |
A |
6: 141,515,208 (GRCm39) |
R702H |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,612,940 (GRCm39) |
H860L |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,630,535 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,881,686 (GRCm39) |
I535N |
probably benign |
Het |
| Tigar |
A |
C |
6: 127,065,042 (GRCm39) |
M202R |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,917 (GRCm39) |
S42G |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,955,202 (GRCm39) |
N957K |
probably damaging |
Het |
|
| Other mutations in Pabir1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01662:Pabir1
|
APN |
19 |
24,453,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03070:Pabir1
|
APN |
19 |
24,454,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4032:Pabir1
|
UTSW |
19 |
24,454,106 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6164:Pabir1
|
UTSW |
19 |
24,454,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7301:Pabir1
|
UTSW |
19 |
24,454,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7301:Pabir1
|
UTSW |
19 |
24,454,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7940:Pabir1
|
UTSW |
19 |
24,454,552 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1177:Pabir1
|
UTSW |
19 |
24,454,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation