Incidental Mutation 'IGL02061:Ppp1r26'
| ID |
185408 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r26
|
| Ensembl Gene |
ENSMUSG00000035829 |
| Gene Name |
protein phosphatase 1, regulatory subunit 26 |
| Synonyms |
LOC241289 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
28336812-28345520 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28340639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 90
(C90S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040324]
[ENSMUST00000189694]
|
| AlphaFold |
Q6A025 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040324
AA Change: C90S
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042173
Gene: ENSMUSG00000035829
AA Change: C90S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPP1R26_N
|
1 |
812 |
N/A |
PFAM |
|
low complexity region
|
901 |
913 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154081
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189694
AA Change: C90S
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139546
Gene: ENSMUSG00000035829
AA Change: C90S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
122 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
636 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
766 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
913 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
T |
A |
13: 113,931,193 (GRCm39) |
D3E |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,454 (GRCm39) |
Y159C |
probably damaging |
Het |
| Card10 |
A |
G |
15: 78,662,415 (GRCm39) |
F861S |
probably damaging |
Het |
| Ccdc85c |
A |
G |
12: 108,188,002 (GRCm39) |
V279A |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,751 (GRCm39) |
R136W |
probably damaging |
Het |
| Eif2b3 |
A |
G |
4: 116,885,608 (GRCm39) |
E50G |
possibly damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Eva1c |
C |
T |
16: 90,663,163 (GRCm39) |
Q67* |
probably null |
Het |
| Exoc1 |
A |
G |
5: 76,689,967 (GRCm39) |
E169G |
probably damaging |
Het |
| Fsd2 |
T |
A |
7: 81,190,172 (GRCm39) |
K537* |
probably null |
Het |
| Gbf1 |
T |
G |
19: 46,267,697 (GRCm39) |
S1236A |
possibly damaging |
Het |
| Gpt |
C |
A |
15: 76,583,617 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
G |
5: 21,486,609 (GRCm39) |
|
probably benign |
Het |
| Hdac6 |
A |
C |
X: 7,809,878 (GRCm39) |
|
probably null |
Het |
| Ivns1abp |
T |
A |
1: 151,227,324 (GRCm39) |
L44Q |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,494 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
A |
G |
5: 123,021,404 (GRCm39) |
I58T |
probably damaging |
Het |
| Mrpl23 |
C |
T |
7: 142,094,319 (GRCm39) |
P76S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,625,308 (GRCm39) |
I2261T |
possibly damaging |
Het |
| Oasl1 |
G |
A |
5: 115,061,651 (GRCm39) |
V61M |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,614 (GRCm39) |
F162I |
possibly damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,046 (GRCm39) |
Q437R |
probably benign |
Het |
| Ppp3ca |
A |
G |
3: 136,503,624 (GRCm39) |
T66A |
probably benign |
Het |
| Prss55 |
A |
G |
14: 64,313,192 (GRCm39) |
Y231H |
possibly damaging |
Het |
| Psmb10 |
T |
C |
8: 106,664,343 (GRCm39) |
T38A |
probably damaging |
Het |
| Rfx5 |
A |
G |
3: 94,865,792 (GRCm39) |
T364A |
probably benign |
Het |
| Scgb2b26 |
T |
C |
7: 33,642,610 (GRCm39) |
N107S |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,920,328 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,277,660 (GRCm39) |
|
probably null |
Het |
| Sod1 |
T |
A |
16: 90,022,126 (GRCm39) |
H111Q |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,900,176 (GRCm39) |
D592E |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,053,526 (GRCm39) |
A740V |
probably damaging |
Het |
| Tra2a |
A |
G |
6: 49,226,032 (GRCm39) |
V136A |
possibly damaging |
Het |
| Utp18 |
T |
C |
11: 93,772,967 (GRCm39) |
D158G |
probably benign |
Het |
| Zfp524 |
A |
G |
7: 5,020,871 (GRCm39) |
E133G |
probably damaging |
Het |
|
| Other mutations in Ppp1r26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00975:Ppp1r26
|
APN |
2 |
28,343,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01092:Ppp1r26
|
APN |
2 |
28,343,872 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02399:Ppp1r26
|
APN |
2 |
28,343,292 (GRCm39) |
missense |
probably benign |
|
|
R0518:Ppp1r26
|
UTSW |
2 |
28,342,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0763:Ppp1r26
|
UTSW |
2 |
28,340,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1082:Ppp1r26
|
UTSW |
2 |
28,342,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Ppp1r26
|
UTSW |
2 |
28,342,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1512:Ppp1r26
|
UTSW |
2 |
28,341,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2157:Ppp1r26
|
UTSW |
2 |
28,342,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2228:Ppp1r26
|
UTSW |
2 |
28,343,798 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2275:Ppp1r26
|
UTSW |
2 |
28,342,713 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3015:Ppp1r26
|
UTSW |
2 |
28,342,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Ppp1r26
|
UTSW |
2 |
28,341,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4614:Ppp1r26
|
UTSW |
2 |
28,340,860 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5521:Ppp1r26
|
UTSW |
2 |
28,341,438 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5873:Ppp1r26
|
UTSW |
2 |
28,341,617 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5988:Ppp1r26
|
UTSW |
2 |
28,342,566 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6060:Ppp1r26
|
UTSW |
2 |
28,341,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7007:Ppp1r26
|
UTSW |
2 |
28,341,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7501:Ppp1r26
|
UTSW |
2 |
28,340,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8812:Ppp1r26
|
UTSW |
2 |
28,341,192 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8986:Ppp1r26
|
UTSW |
2 |
28,342,802 (GRCm39) |
nonsense |
probably null |
|
|
R9213:Ppp1r26
|
UTSW |
2 |
28,343,649 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1176:Ppp1r26
|
UTSW |
2 |
28,342,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ppp1r26
|
UTSW |
2 |
28,343,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Ppp1r26
|
UTSW |
2 |
28,342,880 (GRCm39) |
missense |
probably benign |
0.45 |
|
Z1177:Ppp1r26
|
UTSW |
2 |
28,340,904 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Posted On |
2014-05-07 |
Incidental Mutation