Incidental Mutation 'R3786:Ppp1r21'
| ID |
272284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r21
|
| Ensembl Gene |
ENSMUSG00000034709 |
| Gene Name |
protein phosphatase 1, regulatory subunit 21 |
| Synonyms |
Ccdc128, Klraq1, 1110018J12Rik |
| MMRRC Submission |
040753-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
R3786 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
88837552-88895795 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 88884555 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 null
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: ENSMUST00000185400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190136
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
A |
3: 97,066,605 (GRCm39) |
L41Q |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
| Btbd7 |
C |
T |
12: 102,804,411 (GRCm39) |
E210K |
probably benign |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,356 (GRCm39) |
R231H |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,390,534 (GRCm39) |
E1099D |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
| Dzip3 |
C |
A |
16: 48,795,906 (GRCm39) |
C155F |
probably benign |
Het |
| Fam161b |
A |
T |
12: 84,408,464 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,784,068 (GRCm39) |
E327V |
probably damaging |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Hnrnpl |
A |
G |
7: 28,510,436 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,439,839 (GRCm39) |
I176N |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,037,849 (GRCm39) |
T1505I |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
| Mettl3 |
A |
T |
14: 52,537,363 (GRCm39) |
I102N |
probably benign |
Het |
| Mgat4c |
A |
G |
10: 102,220,931 (GRCm39) |
H71R |
probably damaging |
Het |
| Misp |
G |
A |
10: 79,661,795 (GRCm39) |
V71I |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,283,590 (GRCm39) |
Q734R |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,418,853 (GRCm39) |
T3933I |
possibly damaging |
Het |
| Myh13 |
A |
G |
11: 67,218,014 (GRCm39) |
N29S |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,091,927 (GRCm39) |
V5046F |
probably damaging |
Het |
| Neurod1 |
T |
A |
2: 79,284,939 (GRCm39) |
N148I |
probably damaging |
Het |
| Nrg1 |
A |
T |
8: 32,311,411 (GRCm39) |
V376E |
probably damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Odr4 |
A |
G |
1: 150,260,282 (GRCm39) |
I112T |
probably benign |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Rhoc |
T |
C |
3: 104,700,003 (GRCm39) |
|
probably null |
Het |
| Robo3 |
A |
G |
9: 37,333,521 (GRCm39) |
V708A |
probably damaging |
Het |
| Rtcb |
G |
T |
10: 85,778,458 (GRCm39) |
T395K |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 89,056,018 (GRCm39) |
T967A |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,421,410 (GRCm39) |
Q116K |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,583,355 (GRCm39) |
H1062R |
possibly damaging |
Het |
| Spatc1l |
C |
T |
10: 76,399,736 (GRCm39) |
T86I |
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Tsc1 |
A |
G |
2: 28,577,154 (GRCm39) |
D1151G |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,368,419 (GRCm39) |
D413G |
probably benign |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
| Wnt16 |
A |
G |
6: 22,298,021 (GRCm39) |
N296D |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCACCAAGGCTGTTGATGGATAC -3'
(R):5'- AGGAAGACTCACCAGACTGG -3'
Sequencing Primer
(F):5'- ACAGCCTTTTAAATAGTTGGTTCAG -3'
(R):5'- AATGGGCACAGTCGCATTCTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation