Incidental Mutation 'R6659:Ppp1r37'
ID |
526761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r37
|
Ensembl Gene |
ENSMUSG00000051403 |
Gene Name |
protein phosphatase 1, regulatory subunit 37 |
Synonyms |
Lrrc68 |
MMRRC Submission |
044779-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R6659 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
19264725-19297001 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19266048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 573
(S573P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058444]
|
AlphaFold |
Q8BKR5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058444
AA Change: S573P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000060233 Gene: ENSMUSG00000051403 AA Change: S573P
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
38 |
N/A |
INTRINSIC |
Blast:LRR
|
139 |
166 |
1e-9 |
BLAST |
LRR
|
224 |
251 |
1.77e2 |
SMART |
LRR
|
252 |
280 |
3.52e-1 |
SMART |
LRR
|
281 |
308 |
8.27e-7 |
SMART |
LRR
|
310 |
337 |
3.05e1 |
SMART |
LRR
|
338 |
365 |
1.4e-4 |
SMART |
LRR
|
366 |
393 |
1.56e-2 |
SMART |
LRR
|
394 |
421 |
2.36e-2 |
SMART |
low complexity region
|
504 |
540 |
N/A |
INTRINSIC |
low complexity region
|
566 |
574 |
N/A |
INTRINSIC |
low complexity region
|
596 |
628 |
N/A |
INTRINSIC |
low complexity region
|
660 |
679 |
N/A |
INTRINSIC |
low complexity region
|
696 |
702 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208678
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209190
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
T |
C |
16: 30,950,133 (GRCm39) |
D212G |
probably damaging |
Het |
Add1 |
C |
T |
5: 34,770,639 (GRCm39) |
A250V |
possibly damaging |
Het |
Atxn2 |
A |
G |
5: 121,916,027 (GRCm39) |
N411S |
probably benign |
Het |
AW551984 |
T |
C |
9: 39,500,395 (GRCm39) |
T788A |
probably benign |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Ddx46 |
A |
G |
13: 55,817,537 (GRCm39) |
T721A |
probably damaging |
Het |
Eif2b1 |
G |
A |
5: 124,717,171 (GRCm39) |
|
probably benign |
Het |
Eif4g3 |
A |
G |
4: 137,905,243 (GRCm39) |
K1241E |
probably damaging |
Het |
Engase |
T |
A |
11: 118,372,142 (GRCm39) |
Y145N |
probably benign |
Het |
Fbrs |
C |
A |
7: 127,087,091 (GRCm39) |
A674D |
probably damaging |
Het |
Gm4884 |
G |
A |
7: 40,694,046 (GRCm39) |
G672R |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Iars2 |
T |
A |
1: 185,020,273 (GRCm39) |
I954F |
possibly damaging |
Het |
Itgad |
A |
T |
7: 127,785,120 (GRCm39) |
I310F |
probably damaging |
Het |
Kcnmb3 |
A |
G |
3: 32,526,594 (GRCm39) |
V199A |
possibly damaging |
Het |
Kctd12 |
G |
T |
14: 103,219,622 (GRCm39) |
D85E |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,125,630 (GRCm39) |
R2929H |
probably damaging |
Het |
Lgmn |
T |
A |
12: 102,368,951 (GRCm39) |
Y176F |
probably benign |
Het |
Lipo3 |
A |
G |
19: 33,533,828 (GRCm39) |
F335L |
possibly damaging |
Het |
Map2k3 |
T |
C |
11: 60,833,150 (GRCm39) |
S46P |
probably benign |
Het |
Megf8 |
C |
A |
7: 25,058,159 (GRCm39) |
H2144Q |
probably benign |
Het |
Neb |
A |
T |
2: 52,124,365 (GRCm39) |
W3694R |
probably damaging |
Het |
Nek10 |
A |
G |
14: 14,861,684 (GRCm38) |
E580G |
probably benign |
Het |
Obscn |
G |
A |
11: 58,929,835 (GRCm39) |
P5930S |
probably damaging |
Het |
Palld |
A |
G |
8: 61,986,477 (GRCm39) |
F621L |
probably benign |
Het |
Pkn2 |
A |
T |
3: 142,509,348 (GRCm39) |
I732N |
probably damaging |
Het |
Plpbp |
T |
A |
8: 27,542,307 (GRCm39) |
I214N |
possibly damaging |
Het |
Prg4 |
C |
A |
1: 150,336,432 (GRCm39) |
C97F |
probably damaging |
Het |
Prmt2 |
T |
C |
10: 76,053,208 (GRCm39) |
D269G |
possibly damaging |
Het |
Ptbp3 |
T |
A |
4: 59,517,640 (GRCm39) |
L80F |
probably damaging |
Het |
Reep1 |
T |
A |
6: 71,750,179 (GRCm39) |
F64I |
probably damaging |
Het |
Srcap |
C |
A |
7: 127,141,563 (GRCm39) |
P1720Q |
probably damaging |
Het |
Ssr1 |
A |
T |
13: 38,171,666 (GRCm39) |
F124I |
probably damaging |
Het |
Tbx18 |
A |
G |
9: 87,589,864 (GRCm39) |
L358P |
probably damaging |
Het |
Tfpt |
T |
C |
7: 3,623,835 (GRCm39) |
K71E |
probably benign |
Het |
Tmem132a |
C |
A |
19: 10,837,685 (GRCm39) |
G542C |
probably damaging |
Het |
Tmem135 |
C |
A |
7: 88,956,371 (GRCm39) |
L81F |
probably benign |
Het |
Tmem135 |
A |
T |
7: 88,956,372 (GRCm39) |
L81* |
probably null |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Washc5 |
A |
G |
15: 59,212,739 (GRCm39) |
|
probably null |
Het |
Zfp24 |
T |
C |
18: 24,150,391 (GRCm39) |
E173G |
possibly damaging |
Het |
Zgrf1 |
T |
C |
3: 127,410,155 (GRCm39) |
I1814T |
probably damaging |
Het |
|
Other mutations in Ppp1r37 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0313:Ppp1r37
|
UTSW |
7 |
19,267,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R0718:Ppp1r37
|
UTSW |
7 |
19,266,179 (GRCm39) |
missense |
probably benign |
|
R0883:Ppp1r37
|
UTSW |
7 |
19,266,102 (GRCm39) |
missense |
probably benign |
0.01 |
R1606:Ppp1r37
|
UTSW |
7 |
19,268,924 (GRCm39) |
missense |
probably damaging |
0.97 |
R2220:Ppp1r37
|
UTSW |
7 |
19,266,371 (GRCm39) |
missense |
probably null |
0.43 |
R2256:Ppp1r37
|
UTSW |
7 |
19,295,943 (GRCm39) |
unclassified |
probably benign |
|
R2257:Ppp1r37
|
UTSW |
7 |
19,295,943 (GRCm39) |
unclassified |
probably benign |
|
R2325:Ppp1r37
|
UTSW |
7 |
19,266,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R2510:Ppp1r37
|
UTSW |
7 |
19,266,357 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3401:Ppp1r37
|
UTSW |
7 |
19,266,712 (GRCm39) |
missense |
probably damaging |
0.99 |
R3402:Ppp1r37
|
UTSW |
7 |
19,266,712 (GRCm39) |
missense |
probably damaging |
0.99 |
R4006:Ppp1r37
|
UTSW |
7 |
19,268,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R4750:Ppp1r37
|
UTSW |
7 |
19,265,445 (GRCm39) |
missense |
probably benign |
|
R4956:Ppp1r37
|
UTSW |
7 |
19,266,636 (GRCm39) |
nonsense |
probably null |
|
R5156:Ppp1r37
|
UTSW |
7 |
19,295,900 (GRCm39) |
unclassified |
probably benign |
|
R5582:Ppp1r37
|
UTSW |
7 |
19,266,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R5659:Ppp1r37
|
UTSW |
7 |
19,269,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R5918:Ppp1r37
|
UTSW |
7 |
19,266,036 (GRCm39) |
missense |
probably benign |
0.02 |
R6172:Ppp1r37
|
UTSW |
7 |
19,266,329 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7626:Ppp1r37
|
UTSW |
7 |
19,295,778 (GRCm39) |
missense |
probably damaging |
0.99 |
R7779:Ppp1r37
|
UTSW |
7 |
19,266,712 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7785:Ppp1r37
|
UTSW |
7 |
19,265,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R7819:Ppp1r37
|
UTSW |
7 |
19,267,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R7965:Ppp1r37
|
UTSW |
7 |
19,265,868 (GRCm39) |
missense |
probably damaging |
0.99 |
R8185:Ppp1r37
|
UTSW |
7 |
19,266,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R9125:Ppp1r37
|
UTSW |
7 |
19,269,014 (GRCm39) |
missense |
probably benign |
0.12 |
R9224:Ppp1r37
|
UTSW |
7 |
19,265,729 (GRCm39) |
missense |
probably damaging |
0.98 |
R9417:Ppp1r37
|
UTSW |
7 |
19,269,658 (GRCm39) |
missense |
probably damaging |
0.98 |
R9453:Ppp1r37
|
UTSW |
7 |
19,295,796 (GRCm39) |
missense |
probably damaging |
0.99 |
R9777:Ppp1r37
|
UTSW |
7 |
19,295,783 (GRCm39) |
missense |
probably benign |
0.23 |
Z1177:Ppp1r37
|
UTSW |
7 |
19,268,997 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGGCAAACTCAGGCTTCAG -3'
(R):5'- TGAGATCACCATCACTGCAC -3'
Sequencing Primer
(F):5'- CAGATGACTCTGGGTCCTGG -3'
(R):5'- TGACTCAGACTCAGACTCAGACTCTG -3'
|
Posted On |
2018-07-23 |