Incidental Mutation 'R5481:Ppp1r16a'
| ID |
434352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r16a
|
| Ensembl Gene |
ENSMUSG00000033819 |
| Gene Name |
protein phosphatase 1, regulatory subunit 16A |
| Synonyms |
2900084E10Rik, R75527, Mypt3 |
| MMRRC Submission |
043042-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R5481 (G1)
|
| Quality Score |
146 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76555843-76579119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 76575221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 43
(E43A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037551]
[ENSMUST00000135388]
[ENSMUST00000150399]
[ENSMUST00000231028]
[ENSMUST00000229679]
|
| AlphaFold |
Q923M0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037551
AA Change: E43A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819
AA Change: E43A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
70 |
99 |
2.5e3 |
SMART |
|
ANK
|
103 |
132 |
3.41e-3 |
SMART |
|
ANK
|
136 |
165 |
2.66e-5 |
SMART |
|
ANK
|
231 |
260 |
2.58e-3 |
SMART |
|
ANK
|
264 |
293 |
4.03e-5 |
SMART |
|
low complexity region
|
323 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129396
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134449
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135388
AA Change: E43A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140730
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150399
AA Change: E43A
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123458
Gene: ENSMUSG00000033819
AA Change: E43A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
70 |
99 |
2.5e3 |
SMART |
|
ANK
|
103 |
132 |
3.41e-3 |
SMART |
|
ANK
|
136 |
165 |
2.66e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143274
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229679
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156920
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 95.1%
- 20x: 90.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin light chain kinase and phosphatase (MLCP) complexes control the phosphorylation states of regulatory myosin light chains, which is crucial for muscle and intracellular movement. MLCPs typically contain a catalytic protein phosphatase 1 (PP1c) subunit, a myosin phosphatase targeting (MYPT) subunit, and another smaller subunit. The protein encoded by this gene represents an MYPT subunit, which is responsible for directing PP1c to its intended targets. However, while other MYPTs result in PP1c activation after becoming phosphorylated, the encoded protein is phosphorylated by protein kinase A and then inhibits the catalytic activity of PP1c. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,759 (GRCm39) |
S187P |
probably damaging |
Het |
| Aass |
C |
A |
6: 23,113,475 (GRCm39) |
V282L |
probably benign |
Het |
| Adh6a |
G |
T |
3: 138,031,719 (GRCm39) |
V204F |
probably damaging |
Het |
| Adrm1b |
A |
G |
3: 92,336,658 (GRCm39) |
S15P |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,384,799 (GRCm39) |
K148E |
possibly damaging |
Het |
| Atp12a |
A |
T |
14: 56,610,846 (GRCm39) |
D330V |
possibly damaging |
Het |
| Barhl1 |
A |
G |
2: 28,805,352 (GRCm39) |
Y114H |
probably damaging |
Het |
| BC106179 |
T |
A |
16: 23,042,918 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,570,900 (GRCm39) |
L792P |
probably benign |
Het |
| Calcoco2 |
A |
G |
11: 95,998,369 (GRCm39) |
V18A |
probably damaging |
Het |
| Chpf2 |
A |
T |
5: 24,794,340 (GRCm39) |
H170L |
probably damaging |
Het |
| Chrna1 |
T |
A |
2: 73,397,270 (GRCm39) |
I340F |
possibly damaging |
Het |
| Ckap5 |
A |
T |
2: 91,402,792 (GRCm39) |
I690F |
possibly damaging |
Het |
| Col10a1 |
A |
G |
10: 34,271,660 (GRCm39) |
H544R |
probably benign |
Het |
| Cyp2b19 |
A |
C |
7: 26,466,246 (GRCm39) |
T350P |
probably damaging |
Het |
| Dgkq |
A |
G |
5: 108,796,676 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
A |
G |
14: 31,030,828 (GRCm39) |
V443A |
possibly damaging |
Het |
| Erbb3 |
T |
C |
10: 128,408,349 (GRCm39) |
D855G |
probably damaging |
Het |
| Fam3c |
T |
C |
6: 22,321,357 (GRCm39) |
D138G |
probably benign |
Het |
| Fen1 |
A |
G |
19: 10,178,022 (GRCm39) |
C141R |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,441,216 (GRCm39) |
G390D |
probably damaging |
Het |
| Fnip1 |
C |
A |
11: 54,393,470 (GRCm39) |
D635E |
probably benign |
Het |
| Fry |
A |
T |
5: 150,183,784 (GRCm39) |
L17F |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,810,230 (GRCm39) |
I2183T |
probably benign |
Het |
| Gfpt1 |
T |
A |
6: 87,027,951 (GRCm39) |
I19N |
probably damaging |
Het |
| Hus1b |
T |
C |
13: 31,130,942 (GRCm39) |
D239G |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,987,966 (GRCm39) |
K546R |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,759,886 (GRCm39) |
V1124A |
unknown |
Het |
| Krtap16-1 |
A |
G |
11: 99,876,153 (GRCm39) |
I417T |
probably damaging |
Het |
| Manba |
A |
T |
3: 135,230,317 (GRCm39) |
N297Y |
possibly damaging |
Het |
| Mblac1 |
A |
G |
5: 138,193,078 (GRCm39) |
D140G |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,058,905 (GRCm39) |
|
probably null |
Het |
| Morc1 |
T |
A |
16: 48,381,848 (GRCm39) |
|
probably null |
Het |
| Morc3 |
C |
A |
16: 93,659,543 (GRCm39) |
P449Q |
probably damaging |
Het |
| Mtr |
T |
C |
13: 12,203,041 (GRCm39) |
|
probably null |
Het |
| Mylk |
T |
A |
16: 34,741,974 (GRCm39) |
C829S |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,553,921 (GRCm39) |
I520T |
possibly damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nos1 |
A |
T |
5: 118,005,819 (GRCm39) |
I180F |
probably benign |
Het |
| Ntsr1 |
C |
T |
2: 180,183,313 (GRCm39) |
T341M |
possibly damaging |
Het |
| Or8b51 |
A |
T |
9: 38,568,916 (GRCm39) |
F257L |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,818,883 (GRCm39) |
D435G |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,490,090 (GRCm39) |
N136K |
probably damaging |
Het |
| Pigt |
C |
A |
2: 164,348,342 (GRCm39) |
P429H |
probably damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,222,408 (GRCm39) |
I515V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,422,042 (GRCm39) |
Y3104C |
probably damaging |
Het |
| Ptpn18 |
T |
C |
1: 34,510,744 (GRCm39) |
L260P |
possibly damaging |
Het |
| Scaf11 |
A |
T |
15: 96,318,498 (GRCm39) |
S355R |
probably damaging |
Het |
| Sema4a |
A |
T |
3: 88,360,347 (GRCm39) |
Y77* |
probably null |
Het |
| Serpinb9b |
T |
C |
13: 33,222,076 (GRCm39) |
V230A |
possibly damaging |
Het |
| Sfswap |
T |
A |
5: 129,591,882 (GRCm39) |
S300T |
probably damaging |
Het |
| Slc22a30 |
T |
C |
19: 8,314,201 (GRCm39) |
N495S |
probably benign |
Het |
| Srcap |
G |
A |
7: 127,131,369 (GRCm39) |
G836D |
probably damaging |
Het |
| Stard4 |
A |
C |
18: 33,338,298 (GRCm39) |
C137W |
probably benign |
Het |
| Stat6 |
A |
G |
10: 127,483,695 (GRCm39) |
|
probably null |
Het |
| Steap3 |
T |
C |
1: 120,169,454 (GRCm39) |
D243G |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,325,979 (GRCm39) |
S628P |
probably damaging |
Het |
| Unkl |
C |
T |
17: 25,420,146 (GRCm39) |
Q13* |
probably null |
Het |
| Usp38 |
A |
G |
8: 81,719,952 (GRCm39) |
S426P |
possibly damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,949,636 (GRCm39) |
T404A |
probably benign |
Het |
| Washc1 |
T |
C |
17: 66,425,860 (GRCm39) |
V425A |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,501,546 (GRCm39) |
I590T |
probably damaging |
Het |
|
| Other mutations in Ppp1r16a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01393:Ppp1r16a
|
APN |
15 |
76,578,744 (GRCm39) |
missense |
probably benign |
|
|
IGL01449:Ppp1r16a
|
APN |
15 |
76,578,494 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02128:Ppp1r16a
|
APN |
15 |
76,578,178 (GRCm39) |
missense |
probably benign |
|
|
IGL02331:Ppp1r16a
|
APN |
15 |
76,575,200 (GRCm39) |
missense |
probably benign |
|
|
R0057:Ppp1r16a
|
UTSW |
15 |
76,574,999 (GRCm39) |
unclassified |
probably benign |
|
|
R0060:Ppp1r16a
|
UTSW |
15 |
76,574,999 (GRCm39) |
unclassified |
probably benign |
|
|
R0113:Ppp1r16a
|
UTSW |
15 |
76,574,999 (GRCm39) |
unclassified |
probably benign |
|
|
R0114:Ppp1r16a
|
UTSW |
15 |
76,574,999 (GRCm39) |
unclassified |
probably benign |
|
|
R0244:Ppp1r16a
|
UTSW |
15 |
76,574,999 (GRCm39) |
unclassified |
probably benign |
|
|
R0352:Ppp1r16a
|
UTSW |
15 |
76,574,999 (GRCm39) |
unclassified |
probably benign |
|
|
R0646:Ppp1r16a
|
UTSW |
15 |
76,574,999 (GRCm39) |
unclassified |
probably benign |
|
|
R0652:Ppp1r16a
|
UTSW |
15 |
76,574,999 (GRCm39) |
unclassified |
probably benign |
|
|
R0722:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R0744:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R0833:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R0834:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R0835:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R0836:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R0885:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R0942:Ppp1r16a
|
UTSW |
15 |
76,578,211 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1061:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R1168:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R1170:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R1171:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R1503:Ppp1r16a
|
UTSW |
15 |
76,578,599 (GRCm39) |
missense |
probably benign |
|
|
R1572:Ppp1r16a
|
UTSW |
15 |
76,577,869 (GRCm39) |
nonsense |
probably null |
|
|
R1914:Ppp1r16a
|
UTSW |
15 |
76,577,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Ppp1r16a
|
UTSW |
15 |
76,577,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2085:Ppp1r16a
|
UTSW |
15 |
76,577,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4823:Ppp1r16a
|
UTSW |
15 |
76,577,393 (GRCm39) |
unclassified |
probably benign |
|
|
R5153:Ppp1r16a
|
UTSW |
15 |
76,578,596 (GRCm39) |
nonsense |
probably null |
|
|
R5443:Ppp1r16a
|
UTSW |
15 |
76,578,846 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6900:Ppp1r16a
|
UTSW |
15 |
76,575,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7165:Ppp1r16a
|
UTSW |
15 |
76,575,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Ppp1r16a
|
UTSW |
15 |
76,578,783 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8138:Ppp1r16a
|
UTSW |
15 |
76,575,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Ppp1r16a
|
UTSW |
15 |
76,575,054 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTCTTAGAAAGGTGATGCCCC -3'
(R):5'- TAGTTCCGAGCCAACACAGC -3'
Sequencing Primer
(F):5'- CCCAAACCCAGATCGTGGTG -3'
(R):5'- ACGGATGGGAGTGCCTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation