Incidental Mutation 'R3402:Ppp1r37'
| ID |
259225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r37
|
| Ensembl Gene |
ENSMUSG00000051403 |
| Gene Name |
protein phosphatase 1, regulatory subunit 37 |
| Synonyms |
Lrrc68 |
| MMRRC Submission |
040621-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R3402 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19264725-19297001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 19266712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 392
(A392T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058444]
|
| AlphaFold |
Q8BKR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058444
AA Change: A392T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060233
Gene: ENSMUSG00000051403
AA Change: A392T
| 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 |
0.0807 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
A |
T |
5: 89,849,592 (GRCm39) |
F609L |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,691,661 (GRCm39) |
N1642S |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,104,176 (GRCm39) |
R1156C |
probably damaging |
Het |
| Ark2c |
A |
G |
18: 77,652,782 (GRCm39) |
V6A |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,551,229 (GRCm39) |
E2129G |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
T |
2: 20,786,693 (GRCm39) |
H763L |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
| Ift25 |
A |
G |
4: 107,130,803 (GRCm39) |
|
probably null |
Het |
| Kat2b |
C |
T |
17: 53,972,881 (GRCm39) |
P732S |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,434,719 (GRCm39) |
N387S |
probably benign |
Het |
| Nlrp4d |
A |
T |
7: 10,096,781 (GRCm39) |
N906K |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,859,895 (GRCm39) |
I17V |
probably benign |
Het |
| Or5b120 |
G |
A |
19: 13,480,312 (GRCm39) |
A202T |
probably benign |
Het |
| Pkn1 |
G |
A |
8: 84,396,859 (GRCm39) |
R926W |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,288,660 (GRCm39) |
T538A |
possibly damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,082,958 (GRCm39) |
Y560F |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,703,110 (GRCm39) |
H161R |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,440,763 (GRCm39) |
Y1212H |
probably damaging |
Het |
| Stk3 |
G |
T |
15: 34,945,144 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,787 (GRCm39) |
S322G |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,549,845 (GRCm39) |
E701V |
probably damaging |
Het |
| Upk3a |
T |
C |
15: 84,902,384 (GRCm39) |
|
probably null |
Het |
| Zfp180 |
G |
A |
7: 23,805,170 (GRCm39) |
V530I |
probably benign |
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 |
|
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'- TGAAGCTCTTCACCTGTGGG -3'
(R):5'- CTCAAGAATGGGCTCATCAGC -3'
Sequencing Primer
(F):5'- TCTTCACCTGTGGGACCCAG -3'
(R):5'- TCATCAGCAACCGCAGTGTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation