Incidental Mutation 'R4006:Ppp1r37'
| ID |
311471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r37
|
| Ensembl Gene |
ENSMUSG00000051403 |
| Gene Name |
protein phosphatase 1, regulatory subunit 37 |
| Synonyms |
Lrrc68 |
| MMRRC Submission |
040845-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R4006 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19264725-19297001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19268994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 169
(S169P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058444]
|
| AlphaFold |
Q8BKR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058444
AA Change: S169P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000060233
Gene: ENSMUSG00000051403
AA Change: S169P
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
A |
G |
10: 61,038,600 (GRCm39) |
|
probably null |
Het |
| Ano4 |
C |
A |
10: 88,924,125 (GRCm39) |
V329L |
probably benign |
Het |
| Camkv |
C |
T |
9: 107,823,840 (GRCm39) |
R196W |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,660,188 (GRCm39) |
S383P |
probably benign |
Het |
| Cimip1 |
T |
C |
2: 173,367,880 (GRCm39) |
|
probably null |
Het |
| Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,604,022 (GRCm39) |
E830K |
probably damaging |
Het |
| Fbln2 |
C |
A |
6: 91,246,943 (GRCm39) |
|
probably null |
Het |
| Grm8 |
T |
C |
6: 27,981,229 (GRCm39) |
Y227C |
probably damaging |
Het |
| Gsn |
G |
A |
2: 35,197,633 (GRCm39) |
W717* |
probably null |
Het |
| Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,910,100 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
| Lpin2 |
C |
T |
17: 71,553,496 (GRCm39) |
T878I |
probably damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,865,478 (GRCm39) |
D181V |
probably damaging |
Het |
| Mc1r |
T |
C |
8: 124,134,376 (GRCm39) |
F43S |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,835,471 (GRCm39) |
I931N |
probably benign |
Het |
| Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
| Or5e1 |
C |
T |
7: 108,354,468 (GRCm39) |
T135I |
probably damaging |
Het |
| Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
| Pate3 |
T |
A |
9: 35,557,398 (GRCm39) |
H86L |
probably damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,353,217 (GRCm39) |
F248Y |
probably damaging |
Het |
| Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,375,983 (GRCm39) |
V492I |
probably damaging |
Het |
| Psmb11 |
T |
A |
14: 54,863,103 (GRCm39) |
V107E |
probably damaging |
Het |
| Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
| Shoc1 |
A |
T |
4: 59,076,500 (GRCm39) |
V481D |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,131 (GRCm39) |
T177A |
probably benign |
Het |
| Xkr4 |
A |
T |
1: 3,491,998 (GRCm39) |
F308L |
probably benign |
Het |
| Xylt1 |
A |
G |
7: 117,074,748 (GRCm39) |
I122V |
probably benign |
Het |
| Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
| Zbtb20 |
T |
C |
16: 43,429,762 (GRCm39) |
L18P |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,744 (GRCm39) |
I1767V |
probably benign |
Het |
| Zfp292 |
G |
T |
4: 34,809,611 (GRCm39) |
S1144R |
possibly damaging |
Het |
| Zfp317 |
T |
G |
9: 19,559,333 (GRCm39) |
W516G |
possibly damaging |
Het |
| Zfp974 |
G |
A |
7: 27,611,677 (GRCm39) |
T16I |
possibly 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 |
|
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'- TTGCACTGCTGAGTAAGGG -3'
(R):5'- CCGGGTCATACAGAGCATAC -3'
Sequencing Primer
(F):5'- ACTTCCCAAGGTCATGCTTGGG -3'
(R):5'- GGGTCATACAGAGCATACCTGTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation