Incidental Mutation 'R6531:Ppp1r12c'
| ID |
522351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r12c
|
| Ensembl Gene |
ENSMUSG00000019254 |
| Gene Name |
protein phosphatase 1, regulatory subunit 12C |
| Synonyms |
Mbs85, 2410197A17Rik |
| MMRRC Submission |
044657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R6531 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4484519-4504679 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 4485788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013886]
[ENSMUST00000086372]
[ENSMUST00000124248]
[ENSMUST00000163893]
[ENSMUST00000171445]
[ENSMUST00000164987]
[ENSMUST00000163137]
|
| AlphaFold |
Q3UMT1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000013886
|
| SMART Domains |
Protein: ENSMUSP00000013886
Gene: ENSMUSG00000019254
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
97 |
N/A |
INTRINSIC |
|
ANK
|
104 |
133 |
3.71e-4 |
SMART |
|
ANK
|
137 |
166 |
3.43e-8 |
SMART |
|
low complexity region
|
205 |
210 |
N/A |
INTRINSIC |
|
ANK
|
230 |
259 |
7.95e-4 |
SMART |
|
ANK
|
263 |
292 |
2.41e-3 |
SMART |
|
low complexity region
|
369 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
413 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
450 |
508 |
2.86e-5 |
PROSPERO |
|
internal_repeat_2
|
545 |
599 |
2.86e-5 |
PROSPERO |
|
low complexity region
|
631 |
649 |
N/A |
INTRINSIC |
|
Pfam:PRKG1_interact
|
682 |
782 |
9.7e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086372
|
| SMART Domains |
Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
165 |
2.1e-46 |
PFAM |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
SH3
|
480 |
535 |
2.62e-11 |
SMART |
|
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
|
PDB:1WWU|A
|
632 |
698 |
1e-19 |
PDB |
|
low complexity region
|
701 |
715 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000124248
|
| SMART Domains |
Protein: ENSMUSP00000120029
Gene: ENSMUSG00000019254
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
25 |
54 |
3.71e-4 |
SMART |
|
ANK
|
58 |
87 |
3.43e-8 |
SMART |
|
low complexity region
|
126 |
131 |
N/A |
INTRINSIC |
|
ANK
|
151 |
180 |
7.95e-4 |
SMART |
|
ANK
|
184 |
213 |
2.41e-3 |
SMART |
|
low complexity region
|
290 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
334 |
N/A |
INTRINSIC |
|
PDB:2KJY|A
|
445 |
498 |
3e-11 |
PDB |
|
low complexity region
|
553 |
571 |
N/A |
INTRINSIC |
|
coiled coil region
|
604 |
704 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127329
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136863
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147679
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163893
|
| SMART Domains |
Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
165 |
2.1e-46 |
PFAM |
|
low complexity region
|
282 |
304 |
N/A |
INTRINSIC |
|
SH3
|
480 |
535 |
2.62e-11 |
SMART |
|
low complexity region
|
554 |
564 |
N/A |
INTRINSIC |
|
PDB:1WWU|A
|
632 |
698 |
1e-19 |
PDB |
|
low complexity region
|
701 |
715 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171445
|
| SMART Domains |
Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
96 |
226 |
5.8e-46 |
PFAM |
|
low complexity region
|
343 |
365 |
N/A |
INTRINSIC |
|
SH3
|
541 |
596 |
2.62e-11 |
SMART |
|
low complexity region
|
615 |
625 |
N/A |
INTRINSIC |
|
PDB:1WWU|A
|
693 |
759 |
1e-19 |
PDB |
|
low complexity region
|
762 |
776 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168924
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164987
|
| SMART Domains |
Protein: ENSMUSP00000130665
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163137
|
| SMART Domains |
Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
35 |
100 |
1.9e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153101
|
| Meta Mutation Damage Score |
0.9578 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,926,980 (GRCm39) |
E880G |
possibly damaging |
Het |
| Acsbg2 |
T |
A |
17: 57,153,617 (GRCm39) |
I529F |
probably damaging |
Het |
| Ahcyl2 |
T |
G |
6: 29,886,161 (GRCm39) |
M359R |
probably benign |
Het |
| Aldh5a1 |
G |
T |
13: 25,102,547 (GRCm39) |
D305E |
probably benign |
Het |
| Catsper2 |
C |
G |
2: 121,230,261 (GRCm39) |
V358L |
possibly damaging |
Het |
| Cd200r4 |
C |
T |
16: 44,653,868 (GRCm39) |
Q222* |
probably null |
Het |
| Col4a2 |
T |
A |
8: 11,458,135 (GRCm39) |
D270E |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,303,973 (GRCm39) |
D1401G |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,035,027 (GRCm39) |
M235K |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,844,415 (GRCm39) |
D895G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,584,354 (GRCm39) |
F586L |
probably damaging |
Het |
| Elmo1 |
G |
T |
13: 20,756,616 (GRCm39) |
R568L |
possibly damaging |
Het |
| Epb41 |
T |
C |
4: 131,684,947 (GRCm39) |
T711A |
probably benign |
Het |
| Grm7 |
T |
A |
6: 111,335,386 (GRCm39) |
M599K |
probably benign |
Het |
| Hivep3 |
A |
T |
4: 119,980,073 (GRCm39) |
K1704* |
probably null |
Het |
| Ighv1-62-3 |
C |
A |
12: 115,424,626 (GRCm39) |
C115F |
probably damaging |
Het |
| Krt78 |
A |
G |
15: 101,860,708 (GRCm39) |
Y200H |
probably benign |
Het |
| Lamb2 |
A |
T |
9: 108,360,925 (GRCm39) |
H549L |
possibly damaging |
Het |
| Mroh3 |
A |
G |
1: 136,112,091 (GRCm39) |
I759T |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Nol6 |
G |
T |
4: 41,118,154 (GRCm39) |
P828T |
probably benign |
Het |
| Or1j15 |
G |
A |
2: 36,459,353 (GRCm39) |
V248I |
probably damaging |
Het |
| Or4c3 |
A |
G |
2: 89,851,801 (GRCm39) |
V203A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,651 (GRCm39) |
I156V |
probably benign |
Het |
| Or8w1 |
A |
G |
2: 87,465,873 (GRCm39) |
Y73H |
probably damaging |
Het |
| Ovgp1 |
A |
C |
3: 105,894,387 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 71,962,313 (GRCm39) |
Q230L |
possibly damaging |
Het |
| Pkn1 |
C |
T |
8: 84,396,922 (GRCm39) |
V910I |
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,167,722 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
T |
A |
1: 131,172,551 (GRCm39) |
Q106L |
possibly damaging |
Het |
| Rfc1 |
T |
C |
5: 65,470,322 (GRCm39) |
K62E |
possibly damaging |
Het |
| Sf3b1 |
C |
T |
1: 55,058,554 (GRCm39) |
E12K |
probably damaging |
Het |
| Slc4a1ap |
A |
T |
5: 31,705,982 (GRCm39) |
D691V |
probably benign |
Het |
| Speg |
T |
A |
1: 75,399,401 (GRCm39) |
F2283I |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,937,615 (GRCm39) |
|
probably null |
Het |
| Synj2 |
A |
G |
17: 6,084,114 (GRCm39) |
K267E |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,711,211 (GRCm39) |
Y991F |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,572,427 (GRCm39) |
D380E |
probably benign |
Het |
| Trim43b |
A |
T |
9: 88,967,418 (GRCm39) |
L405H |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,863,576 (GRCm39) |
I586T |
probably damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,229,445 (GRCm39) |
R213S |
probably damaging |
Het |
| Vmn1r198 |
T |
A |
13: 22,538,577 (GRCm39) |
M21K |
probably benign |
Het |
| Wdr35 |
A |
T |
12: 9,028,685 (GRCm39) |
Y101F |
probably benign |
Het |
| Zfp367 |
T |
C |
13: 64,292,064 (GRCm39) |
Y189C |
probably damaging |
Het |
|
| Other mutations in Ppp1r12c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01124:Ppp1r12c
|
APN |
7 |
4,500,344 (GRCm39) |
splice site |
probably benign |
|
|
IGL01419:Ppp1r12c
|
APN |
7 |
4,489,351 (GRCm39) |
splice site |
probably null |
|
|
IGL02126:Ppp1r12c
|
APN |
7 |
4,492,858 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL03388:Ppp1r12c
|
APN |
7 |
4,485,069 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4418001:Ppp1r12c
|
UTSW |
7 |
4,504,266 (GRCm39) |
missense |
probably null |
0.09 |
|
R0523:Ppp1r12c
|
UTSW |
7 |
4,492,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0815:Ppp1r12c
|
UTSW |
7 |
4,489,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0863:Ppp1r12c
|
UTSW |
7 |
4,489,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Ppp1r12c
|
UTSW |
7 |
4,487,443 (GRCm39) |
splice site |
probably null |
|
|
R1522:Ppp1r12c
|
UTSW |
7 |
4,500,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Ppp1r12c
|
UTSW |
7 |
4,486,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2004:Ppp1r12c
|
UTSW |
7 |
4,485,974 (GRCm39) |
nonsense |
probably null |
|
|
R2170:Ppp1r12c
|
UTSW |
7 |
4,485,805 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3787:Ppp1r12c
|
UTSW |
7 |
4,489,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Ppp1r12c
|
UTSW |
7 |
4,485,785 (GRCm39) |
unclassified |
probably benign |
|
|
R4093:Ppp1r12c
|
UTSW |
7 |
4,486,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4095:Ppp1r12c
|
UTSW |
7 |
4,486,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4108:Ppp1r12c
|
UTSW |
7 |
4,489,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Ppp1r12c
|
UTSW |
7 |
4,487,495 (GRCm39) |
nonsense |
probably null |
|
|
R5319:Ppp1r12c
|
UTSW |
7 |
4,486,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5561:Ppp1r12c
|
UTSW |
7 |
4,489,355 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5739:Ppp1r12c
|
UTSW |
7 |
4,500,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5837:Ppp1r12c
|
UTSW |
7 |
4,500,403 (GRCm39) |
intron |
probably benign |
|
|
R7207:Ppp1r12c
|
UTSW |
7 |
4,492,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7507:Ppp1r12c
|
UTSW |
7 |
4,486,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7920:Ppp1r12c
|
UTSW |
7 |
4,486,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7934:Ppp1r12c
|
UTSW |
7 |
4,488,416 (GRCm39) |
nonsense |
probably null |
|
|
R8391:Ppp1r12c
|
UTSW |
7 |
4,500,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8397:Ppp1r12c
|
UTSW |
7 |
4,492,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8793:Ppp1r12c
|
UTSW |
7 |
4,485,887 (GRCm39) |
missense |
probably benign |
|
|
R8851:Ppp1r12c
|
UTSW |
7 |
4,487,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Ppp1r12c
|
UTSW |
7 |
4,486,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9114:Ppp1r12c
|
UTSW |
7 |
4,485,792 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Z1177:Ppp1r12c
|
UTSW |
7 |
4,487,628 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACACACTTATACCTGCGTGG -3'
(R):5'- CAGGTAGACTGGGTCATGTG -3'
Sequencing Primer
(F):5'- ACCTTGAGCTGTGCCAGAC -3'
(R):5'- GTGGAGGCTGGGACACATTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation