Incidental Mutation 'R0313:Ppp1r37'
| ID |
25333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r37
|
| Ensembl Gene |
ENSMUSG00000051403 |
| Gene Name |
protein phosphatase 1, regulatory subunit 37 |
| Synonyms |
Lrrc68 |
| MMRRC Submission |
038523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R0313 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19264725-19297001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 19267923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 324
(T324I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058444]
|
| AlphaFold |
Q8BKR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058444
AA Change: T324I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060233
Gene: ENSMUSG00000051403
AA Change: T324I
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.9%
- 20x: 88.5%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
A |
G |
6: 58,649,082 (GRCm39) |
E309G |
probably benign |
Het |
| Ankmy1 |
C |
T |
1: 92,813,943 (GRCm39) |
G412D |
probably damaging |
Het |
| Cc2d1a |
G |
A |
8: 84,863,598 (GRCm39) |
T542I |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,580,967 (GRCm39) |
I94V |
probably benign |
Het |
| Cobll1 |
G |
A |
2: 64,926,088 (GRCm39) |
R1195* |
probably null |
Het |
| Dnah7b |
A |
G |
1: 46,246,803 (GRCm39) |
T1660A |
probably damaging |
Het |
| Dzip3 |
G |
T |
16: 48,757,424 (GRCm39) |
Q870K |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,148,707 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,811,892 (GRCm39) |
I1411T |
probably benign |
Het |
| Esyt2 |
T |
C |
12: 116,311,428 (GRCm39) |
L439P |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Haspin |
A |
G |
11: 73,027,124 (GRCm39) |
V655A |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,549,928 (GRCm39) |
E1351G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 26,869,394 (GRCm39) |
|
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,436,873 (GRCm39) |
E73G |
probably damaging |
Het |
| Ltv1 |
C |
T |
10: 13,058,604 (GRCm39) |
|
probably null |
Het |
| Mcmdc2 |
A |
G |
1: 10,002,366 (GRCm39) |
Y529C |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 70,179,303 (GRCm39) |
Y1172* |
probably null |
Het |
| Ncf1 |
T |
C |
5: 134,258,421 (GRCm39) |
M1V |
probably null |
Het |
| Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
| Or6c8b |
A |
G |
10: 128,882,695 (GRCm39) |
V79A |
possibly damaging |
Het |
| Or8c10 |
T |
C |
9: 38,279,600 (GRCm39) |
S243P |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,726,339 (GRCm39) |
H80L |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,728,887 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,906 (GRCm39) |
Y1710C |
unknown |
Het |
| Prmt1 |
T |
C |
7: 44,628,172 (GRCm39) |
D176G |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,363,637 (GRCm39) |
D501G |
probably damaging |
Het |
| Ska2 |
A |
G |
11: 87,008,640 (GRCm39) |
I89M |
possibly damaging |
Het |
| Slc39a7 |
G |
A |
17: 34,248,518 (GRCm39) |
A375V |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,898 (GRCm39) |
I374N |
probably damaging |
Het |
| Stox2 |
C |
T |
8: 47,645,169 (GRCm39) |
G828R |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Uqcrc1 |
C |
A |
9: 108,777,642 (GRCm39) |
R114S |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,071 (GRCm39) |
L988* |
probably null |
Het |
| Vmn2r5 |
T |
A |
3: 64,411,248 (GRCm39) |
H440L |
probably benign |
Het |
| Wdr12 |
A |
T |
1: 60,121,738 (GRCm39) |
I271N |
possibly damaging |
Het |
| Xylt2 |
C |
T |
11: 94,560,720 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ppp1r37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6659:Ppp1r37
|
UTSW |
7 |
19,266,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGGTCAGTAGCACACAAATGCCCC -3'
(R):5'- TGTCTCTGATGCAACACGAGCAG -3'
Sequencing Primer
(F):5'- gaaaccctgtcttgaaaaaccc -3'
(R):5'- AGCAGAGGTGCTCCCAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation