Incidental Mutation 'IGL01753:Ppp1r21'
| ID |
153172 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r21
|
| Ensembl Gene |
ENSMUSG00000034709 |
| Gene Name |
protein phosphatase 1, regulatory subunit 21 |
| Synonyms |
Ccdc128, Klraq1, 1110018J12Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
IGL01753
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
88837552-88895795 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 88869530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038551]
|
| AlphaFold |
Q3TDD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038551
|
| SMART Domains |
Protein: ENSMUSP00000048443
Gene: ENSMUSG00000034709
| Domain | Start | End | E-Value | Type |
|---|
|
KLRAQ
|
11 |
112 |
8.01e-51 |
SMART |
|
coiled coil region
|
136 |
211 |
N/A |
INTRINSIC |
|
Pfam:TTKRSYEDQ
|
255 |
771 |
1.8e-273 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191340
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,599,112 (GRCm39) |
F163L |
probably benign |
Het |
| Ap2b1 |
A |
G |
11: 83,212,799 (GRCm39) |
T60A |
probably damaging |
Het |
| Casp3 |
A |
G |
8: 47,082,776 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,919,438 (GRCm39) |
Y118C |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,087,015 (GRCm39) |
|
probably benign |
Het |
| Clec4b2 |
A |
T |
6: 123,179,169 (GRCm39) |
Y157F |
possibly damaging |
Het |
| Crppa |
C |
T |
12: 36,523,176 (GRCm39) |
L202F |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,173 (GRCm39) |
F480I |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,038,656 (GRCm39) |
|
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,530,906 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,390,677 (GRCm39) |
Y830H |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Ighv2-9-1 |
T |
C |
12: 113,733,548 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv12-41 |
T |
C |
6: 69,835,510 (GRCm39) |
R81G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,067,794 (GRCm39) |
S1766T |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,708,483 (GRCm39) |
V1670I |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,350,274 (GRCm39) |
F124L |
probably damaging |
Het |
| Nek2 |
C |
T |
1: 191,557,598 (GRCm39) |
Q187* |
probably null |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pif1 |
G |
A |
9: 65,500,590 (GRCm39) |
G505D |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,287,413 (GRCm39) |
I495F |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,444,802 (GRCm39) |
I282V |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,479,146 (GRCm39) |
I669N |
possibly damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,180,031 (GRCm39) |
|
probably benign |
Het |
| Top2a |
T |
A |
11: 98,898,100 (GRCm39) |
T689S |
probably damaging |
Het |
| Trerf1 |
T |
A |
17: 47,626,362 (GRCm39) |
|
noncoding transcript |
Het |
| Uso1 |
T |
C |
5: 92,300,777 (GRCm39) |
|
probably null |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,674,139 (GRCm39) |
V399E |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,929,217 (GRCm39) |
I390V |
probably benign |
Het |
| Zfp90 |
C |
T |
8: 107,150,782 (GRCm39) |
T165I |
probably benign |
Het |
|
| Other mutations in Ppp1r21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02366:Ppp1r21
|
APN |
17 |
88,855,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02604:Ppp1r21
|
APN |
17 |
88,880,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02680:Ppp1r21
|
APN |
17 |
88,891,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0266:Ppp1r21
|
UTSW |
17 |
88,876,500 (GRCm39) |
splice site |
probably benign |
|
|
R0436:Ppp1r21
|
UTSW |
17 |
88,873,117 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1398:Ppp1r21
|
UTSW |
17 |
88,850,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Ppp1r21
|
UTSW |
17 |
88,866,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Ppp1r21
|
UTSW |
17 |
88,880,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1677:Ppp1r21
|
UTSW |
17 |
88,858,097 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1760:Ppp1r21
|
UTSW |
17 |
88,869,653 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2571:Ppp1r21
|
UTSW |
17 |
88,852,810 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3700:Ppp1r21
|
UTSW |
17 |
88,889,882 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3786:Ppp1r21
|
UTSW |
17 |
88,884,555 (GRCm39) |
splice site |
probably null |
|
|
R3959:Ppp1r21
|
UTSW |
17 |
88,857,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Ppp1r21
|
UTSW |
17 |
88,856,941 (GRCm39) |
missense |
probably benign |
|
|
R4654:Ppp1r21
|
UTSW |
17 |
88,866,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4724:Ppp1r21
|
UTSW |
17 |
88,863,019 (GRCm39) |
nonsense |
probably null |
|
|
R4766:Ppp1r21
|
UTSW |
17 |
88,880,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4933:Ppp1r21
|
UTSW |
17 |
88,855,049 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4934:Ppp1r21
|
UTSW |
17 |
88,852,804 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4934:Ppp1r21
|
UTSW |
17 |
88,852,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Ppp1r21
|
UTSW |
17 |
88,876,508 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5109:Ppp1r21
|
UTSW |
17 |
88,866,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Ppp1r21
|
UTSW |
17 |
88,858,103 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5861:Ppp1r21
|
UTSW |
17 |
88,889,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6200:Ppp1r21
|
UTSW |
17 |
88,876,613 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6369:Ppp1r21
|
UTSW |
17 |
88,889,840 (GRCm39) |
splice site |
probably null |
|
|
R7060:Ppp1r21
|
UTSW |
17 |
88,887,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7154:Ppp1r21
|
UTSW |
17 |
88,862,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7390:Ppp1r21
|
UTSW |
17 |
88,856,958 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7470:Ppp1r21
|
UTSW |
17 |
88,869,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7475:Ppp1r21
|
UTSW |
17 |
88,863,031 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7657:Ppp1r21
|
UTSW |
17 |
88,863,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Ppp1r21
|
UTSW |
17 |
88,856,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8081:Ppp1r21
|
UTSW |
17 |
88,866,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9272:Ppp1r21
|
UTSW |
17 |
88,866,086 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9377:Ppp1r21
|
UTSW |
17 |
88,852,815 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation