Incidental Mutation 'R5156:Ppp1r37'
ID |
396729 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppp1r37
|
Ensembl Gene |
ENSMUSG00000051403 |
Gene Name |
protein phosphatase 1, regulatory subunit 37 |
Synonyms |
Lrrc68 |
MMRRC Submission |
042738-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R5156 (G1)
|
Quality Score |
90 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
19264725-19297001 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 19295900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051364]
[ENSMUST00000058444]
[ENSMUST00000117222]
[ENSMUST00000119912]
[ENSMUST00000122055]
[ENSMUST00000122127]
[ENSMUST00000208826]
[ENSMUST00000151646]
|
AlphaFold |
Q8BKR5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051364
|
SMART Domains |
Protein: ENSMUSP00000055844 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
129 |
1.9e-45 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000058444
AA Change: D19G
|
SMART Domains |
Protein: ENSMUSP00000060233 Gene: ENSMUSG00000051403 AA Change: D19G
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 |
probably benign
Transcript: ENSMUST00000117222
|
SMART Domains |
Protein: ENSMUSP00000113266 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
129 |
1.9e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119912
|
SMART Domains |
Protein: ENSMUSP00000112742 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
129 |
1.9e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122055
|
SMART Domains |
Protein: ENSMUSP00000113583 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
129 |
1.9e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122127
|
SMART Domains |
Protein: ENSMUSP00000113709 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
129 |
1.9e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208826
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151646
|
SMART Domains |
Protein: ENSMUSP00000116207 Gene: ENSMUSG00000044709
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
Pfam:Gemin7
|
50 |
81 |
7e-16 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513D11Rik |
G |
T |
17: 79,935,638 (GRCm39) |
|
probably benign |
Het |
Apeh |
C |
T |
9: 107,971,486 (GRCm39) |
A29T |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,826,524 (GRCm39) |
Y1013* |
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,762,355 (GRCm39) |
E537G |
unknown |
Het |
Asf1b |
T |
C |
8: 84,682,540 (GRCm39) |
F28S |
probably damaging |
Het |
Cd46 |
T |
A |
1: 194,767,693 (GRCm39) |
I123L |
possibly damaging |
Het |
Cdca7 |
A |
T |
2: 72,309,370 (GRCm39) |
T48S |
probably damaging |
Het |
Cfap53 |
T |
A |
18: 74,492,838 (GRCm39) |
|
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,511,599 (GRCm39) |
T599S |
probably benign |
Het |
Csf1 |
T |
A |
3: 107,656,252 (GRCm39) |
T148S |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,699,400 (GRCm39) |
|
probably null |
Het |
Dmpk |
A |
G |
7: 18,818,050 (GRCm39) |
D44G |
probably damaging |
Het |
Dnajb12 |
T |
A |
10: 59,728,782 (GRCm39) |
N223K |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,595,264 (GRCm39) |
M1392K |
probably benign |
Het |
Edrf1 |
C |
T |
7: 133,261,908 (GRCm39) |
A867V |
probably damaging |
Het |
Efemp2 |
T |
A |
19: 5,527,706 (GRCm39) |
C94S |
possibly damaging |
Het |
Epha8 |
C |
T |
4: 136,666,037 (GRCm39) |
S373N |
probably benign |
Het |
Foxk1 |
A |
G |
5: 142,434,588 (GRCm39) |
D284G |
possibly damaging |
Het |
Fzd10 |
C |
A |
5: 128,678,366 (GRCm39) |
R29S |
possibly damaging |
Het |
Gm13991 |
T |
C |
2: 116,358,665 (GRCm39) |
|
noncoding transcript |
Het |
Gm6818 |
A |
T |
7: 38,101,471 (GRCm39) |
|
noncoding transcript |
Het |
Hydin |
T |
A |
8: 111,336,333 (GRCm39) |
C5037S |
probably benign |
Het |
Ikzf1 |
T |
A |
11: 11,719,448 (GRCm39) |
M492K |
probably damaging |
Het |
Krt20 |
G |
T |
11: 99,320,879 (GRCm39) |
S394R |
possibly damaging |
Het |
Lrrc71 |
T |
A |
3: 87,653,094 (GRCm39) |
R107S |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,219,323 (GRCm39) |
T436A |
possibly damaging |
Het |
Muc19 |
T |
A |
15: 91,784,614 (GRCm39) |
|
noncoding transcript |
Het |
Neu4 |
T |
C |
1: 93,952,177 (GRCm39) |
V182A |
probably damaging |
Het |
Notch2 |
T |
G |
3: 98,031,626 (GRCm39) |
F1167V |
possibly damaging |
Het |
Nrap |
A |
G |
19: 56,360,277 (GRCm39) |
M189T |
possibly damaging |
Het |
Nt5m |
A |
T |
11: 59,765,487 (GRCm39) |
I172F |
probably damaging |
Het |
Or5b118 |
G |
T |
19: 13,449,037 (GRCm39) |
K234N |
probably damaging |
Het |
Or5w15 |
G |
A |
2: 87,568,119 (GRCm39) |
P183L |
possibly damaging |
Het |
Or8k41 |
A |
T |
2: 86,313,362 (GRCm39) |
C241* |
probably null |
Het |
Plekha5 |
C |
T |
6: 140,372,254 (GRCm39) |
T68M |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,392,461 (GRCm39) |
|
probably null |
Het |
Rfx4 |
T |
C |
10: 84,704,218 (GRCm39) |
Y238H |
probably damaging |
Het |
Sanbr |
A |
G |
11: 23,543,424 (GRCm39) |
|
probably null |
Het |
Sec13 |
G |
A |
6: 113,707,837 (GRCm39) |
A161V |
probably benign |
Het |
Serhl |
G |
A |
15: 82,986,895 (GRCm39) |
|
probably benign |
Het |
Slco4a1 |
T |
C |
2: 180,114,572 (GRCm39) |
V588A |
probably benign |
Het |
Slitrk3 |
T |
C |
3: 72,956,592 (GRCm39) |
T727A |
probably benign |
Het |
Sp100 |
T |
A |
1: 85,601,404 (GRCm39) |
D241E |
probably damaging |
Het |
Spata2 |
G |
T |
2: 167,325,494 (GRCm39) |
H442N |
probably damaging |
Het |
Speg |
T |
C |
1: 75,404,731 (GRCm39) |
V2588A |
probably damaging |
Het |
Tnfsf12 |
A |
G |
11: 69,578,155 (GRCm39) |
S141P |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,219,762 (GRCm39) |
I2166M |
probably damaging |
Het |
Trim10 |
T |
A |
17: 37,187,948 (GRCm39) |
V388E |
probably damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vmn2r10 |
A |
G |
5: 109,143,466 (GRCm39) |
V828A |
probably benign |
Het |
Vmn2r75 |
T |
A |
7: 85,813,436 (GRCm39) |
L455F |
possibly damaging |
Het |
Vwa8 |
T |
A |
14: 79,221,666 (GRCm39) |
S541T |
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 |
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 |
|
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'- CAAAGCTACCGTGTCTCCAG -3'
(R):5'- AAGCTTGAGTCGGTGCTATGC -3'
Sequencing Primer
(F):5'- AGGGGTCTTTGGGCTCCAC -3'
(R):5'- CCTTCGGCTTGTAGCGAAAG -3'
|
Posted On |
2016-06-21 |