Incidental Mutation 'IGL02366:Ppp1r21'
ID |
290746 |
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 # |
IGL02366
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
88837552-88895795 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88855090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 123
(H123R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038551]
|
AlphaFold |
Q3TDD9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038551
AA Change: H123R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000048443 Gene: ENSMUSG00000034709 AA Change: H123R
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: ENSMUST00000189734
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
T |
A |
15: 12,810,859 (GRCm39) |
H339L |
probably benign |
Het |
Abcc1 |
T |
C |
16: 14,285,843 (GRCm39) |
|
probably benign |
Het |
Ankrd55 |
T |
C |
13: 112,454,994 (GRCm39) |
Y3H |
probably damaging |
Het |
Armcx4 |
A |
C |
X: 133,592,261 (GRCm39) |
K723T |
possibly damaging |
Het |
Brinp3 |
T |
A |
1: 146,577,481 (GRCm39) |
V172D |
possibly damaging |
Het |
Cemip |
C |
T |
7: 83,592,849 (GRCm39) |
R1226Q |
probably benign |
Het |
Cntn5 |
A |
T |
9: 9,984,060 (GRCm39) |
|
probably benign |
Het |
Cyld |
T |
C |
8: 89,456,381 (GRCm39) |
V474A |
probably damaging |
Het |
Dhx40 |
T |
C |
11: 86,667,528 (GRCm39) |
E537G |
probably damaging |
Het |
Efhc1 |
A |
G |
1: 21,030,486 (GRCm39) |
N140D |
probably damaging |
Het |
Eif6 |
A |
G |
2: 155,668,092 (GRCm39) |
V49A |
probably benign |
Het |
Epha4 |
G |
T |
1: 77,403,348 (GRCm39) |
Y386* |
probably null |
Het |
Ggnbp2 |
T |
C |
11: 84,732,427 (GRCm39) |
K222R |
probably damaging |
Het |
Gm5117 |
T |
C |
8: 32,227,887 (GRCm39) |
|
noncoding transcript |
Het |
Gm5852 |
A |
T |
3: 93,634,568 (GRCm39) |
|
noncoding transcript |
Het |
Hadha |
A |
G |
5: 30,340,048 (GRCm39) |
V243A |
probably benign |
Het |
Hal |
A |
G |
10: 93,339,390 (GRCm39) |
N493S |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,717,216 (GRCm39) |
T731A |
possibly damaging |
Het |
Irs4 |
A |
T |
X: 140,506,900 (GRCm39) |
L432H |
probably damaging |
Het |
Kdm4a |
T |
G |
4: 118,017,703 (GRCm39) |
|
probably null |
Het |
Lhx4 |
T |
C |
1: 155,580,934 (GRCm39) |
D197G |
possibly damaging |
Het |
Mllt10 |
T |
A |
2: 18,069,898 (GRCm39) |
M18K |
probably damaging |
Het |
Nars1 |
T |
C |
18: 64,636,599 (GRCm39) |
T422A |
possibly damaging |
Het |
Ncf2 |
A |
G |
1: 152,710,824 (GRCm39) |
D445G |
probably benign |
Het |
Ndor1 |
C |
A |
2: 25,137,993 (GRCm39) |
G544V |
possibly damaging |
Het |
Notch3 |
C |
A |
17: 32,363,179 (GRCm39) |
R1268L |
probably benign |
Het |
Or51ac3 |
A |
T |
7: 103,213,622 (GRCm39) |
V288D |
probably damaging |
Het |
Or5b117 |
T |
C |
19: 13,431,491 (GRCm39) |
Y130C |
probably damaging |
Het |
Or6c202 |
A |
T |
10: 128,996,494 (GRCm39) |
Y120N |
probably damaging |
Het |
Or8g2 |
T |
C |
9: 39,821,288 (GRCm39) |
L63P |
probably damaging |
Het |
Osgep |
T |
C |
14: 51,157,407 (GRCm39) |
D72G |
probably damaging |
Het |
Pank4 |
C |
T |
4: 155,054,085 (GRCm39) |
T88I |
probably benign |
Het |
Pcgf6 |
T |
C |
19: 47,038,894 (GRCm39) |
E122G |
possibly damaging |
Het |
Prex1 |
A |
C |
2: 166,422,347 (GRCm39) |
L28R |
probably damaging |
Het |
Rbl1 |
A |
T |
2: 157,016,813 (GRCm39) |
N595K |
probably benign |
Het |
Rnf148 |
T |
C |
6: 23,654,058 (GRCm39) |
I313V |
probably benign |
Het |
Rnf220 |
T |
C |
4: 117,346,980 (GRCm39) |
N144S |
probably benign |
Het |
Sbno2 |
G |
A |
10: 79,900,036 (GRCm39) |
T577I |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
Slco1a5 |
A |
T |
6: 142,195,941 (GRCm39) |
V354D |
possibly damaging |
Het |
Slit2 |
A |
T |
5: 48,461,410 (GRCm39) |
T1486S |
possibly damaging |
Het |
Snd1 |
T |
C |
6: 28,707,149 (GRCm39) |
|
probably benign |
Het |
Sval3 |
T |
C |
6: 41,946,659 (GRCm39) |
|
probably benign |
Het |
Tmem94 |
T |
C |
11: 115,688,258 (GRCm39) |
L1239P |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,755,874 (GRCm39) |
|
probably benign |
Het |
Ttc9 |
A |
C |
12: 81,678,384 (GRCm39) |
D69A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,593,580 (GRCm39) |
L20687M |
probably benign |
Het |
Zfp748 |
T |
A |
13: 67,693,546 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ppp1r21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01753:Ppp1r21
|
APN |
17 |
88,869,530 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-04-16 |