Mutagenetix > Incidental Mutations

Incidental Mutation 'R0352:Ppp1r16a'

261857

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r16a

Ensembl Gene

ENSMUSG00000033819

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 16A

Synonyms

R75527, Mypt3, 2900084E10Rik

MMRRC Submission

038558-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R0352 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

76671615-76694919 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 76690799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037551] [ENSMUST00000135388] [ENSMUST00000150399] [ENSMUST00000229679] [ENSMUST00000231028]

AlphaFold

Q923M0

Predicted Effect

probably benign
Transcript: ENSMUST00000037551

SMART Domains

Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819

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 benign
Transcript: ENSMUST00000135388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143274

Predicted Effect

probably benign
Transcript: ENSMUST00000150399

SMART Domains

Protein: ENSMUSP00000123458
Gene: ENSMUSG00000033819

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

probably benign
Transcript: ENSMUST00000156920

Predicted Effect

probably benign
Transcript: ENSMUST00000229679

Predicted Effect

probably benign
Transcript: ENSMUST00000231028

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.4%
20x: 90.0%

Validation Efficiency

100% (70/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,138,030	T64M	possibly damaging	Het
3110040N11Rik	G	T	7: 81,788,460	N49K	probably benign	Het
Adrb1	T	A	19: 56,722,861	F164I	probably damaging	Het
Aplf	C	T	6: 87,653,884	V190I	probably benign	Het
Aqr	A	G	2: 114,170,052	Y50H	probably damaging	Het
Arfgef3	A	C	10: 18,661,387	I182R	probably benign	Het
BC080695	A	T	4: 143,571,308		probably benign	Het
Cacna1b	G	A	2: 24,625,232		probably benign	Het
Casp9	A	G	4: 141,805,530	T246A	probably damaging	Het
Clcn6	A	G	4: 148,014,606	S427P	probably damaging	Het
Cnga1	T	C	5: 72,604,503	N556S	possibly damaging	Het
Cntnap2	G	A	6: 45,992,084		probably null	Het
Col11a2	T	G	17: 34,042,527	V120G	probably benign	Het
Cux2	A	C	5: 121,884,739		probably benign	Het
Dmrt2	T	C	19: 25,678,662	S542P	probably damaging	Het
Dnah7b	A	G	1: 46,277,126	H3133R	probably damaging	Het
Drosha	G	A	15: 12,837,288	R286Q	unknown	Het
Eipr1	A	G	12: 28,766,785	D47G	probably damaging	Het
Fam192a	A	G	8: 94,588,011	F73S	probably damaging	Het
Fras1	T	G	5: 96,726,540	Y2275D	probably damaging	Het
Gm13083	A	T	4: 143,615,989	D222V	possibly damaging	Het
Grm4	C	T	17: 27,451,891		probably benign	Het
Hebp1	A	G	6: 135,152,920	V100A	possibly damaging	Het
Hivep2	G	A	10: 14,143,295	V1937I	possibly damaging	Het
Hs3st6	T	C	17: 24,758,194	V216A	probably damaging	Het
Hsd17b4	T	C	18: 50,191,784	I688T	probably benign	Het
Hydin	T	C	8: 110,569,901		probably null	Het
Iws1	A	G	18: 32,084,205	E426G	probably damaging	Het
Klrb1f	T	C	6: 129,053,717	S64P	probably damaging	Het
Lacc1	C	T	14: 77,035,189	G56R	probably damaging	Het
Lcmt2	A	G	2: 121,138,896	S569P	probably benign	Het
Lipm	C	T	19: 34,112,875		probably benign	Het
Lum	A	G	10: 97,568,609	H122R	probably damaging	Het
Magi2	A	G	5: 20,065,666	Y15C	probably damaging	Het
Mal	A	T	2: 127,640,366	I39N	probably damaging	Het
Mgme1	A	G	2: 144,276,399	H197R	probably benign	Het
Mmrn1	A	T	6: 60,944,971	K137N	probably benign	Het
Myh3	T	A	11: 67,090,428	C706S	possibly damaging	Het
Myo18b	A	T	5: 112,874,523		probably benign	Het
Myom1	A	G	17: 71,045,749	E356G	possibly damaging	Het
Nfib	A	G	4: 82,504,717		probably benign	Het
Npc1l1	T	C	11: 6,223,076	M788V	probably benign	Het
Olfr459	C	T	6: 41,772,124	M58I	probably damaging	Het
Pdha2	A	G	3: 141,211,696	V17A	probably benign	Het
Pgap1	A	T	1: 54,486,458		probably benign	Het
Polr1a	G	T	6: 71,920,763		probably benign	Het
Prmt2	A	T	10: 76,208,503	V405D	possibly damaging	Het
Psg26	T	A	7: 18,475,256	Y409F	probably benign	Het
Ptges	G	T	2: 30,903,132	Y29*	probably null	Het
Ptrhd1	A	G	12: 4,236,399	T97A	probably benign	Het
Ripk3	T	A	14: 55,786,743		probably benign	Het
Rnf114	A	T	2: 167,511,216	I136F	probably benign	Het
Serinc5	A	G	13: 92,707,989		probably null	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc23a2	C	A	2: 132,060,796	M495I	probably benign	Het
Slc52a3	T	A	2: 152,007,513	L360*	probably null	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Syt5	A	G	7: 4,541,171	V290A	probably benign	Het
Szt2	G	A	4: 118,382,593	A1931V	unknown	Het
Tasp1	A	G	2: 139,951,458		probably null	Het
Tcp10a	C	A	17: 7,326,406	D43E	probably damaging	Het
Tnfsf11	A	T	14: 78,278,968	Y187N	probably benign	Het
Tppp2	T	A	14: 51,919,350	N61K	possibly damaging	Het
Wwtr1	A	T	3: 57,575,127	W100R	probably damaging	Het
Zfp623	A	G	15: 75,948,584	D463G	probably benign	Het
Zfp990	A	G	4: 145,536,604	I57M	probably damaging	Het
Zmat5	G	A	11: 4,722,413	C10Y	probably damaging	Het

Other mutations in Ppp1r16a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Ppp1r16a	APN	15	76694544	missense	probably benign
IGL01449:Ppp1r16a	APN	15	76694294	unclassified	probably benign
IGL02128:Ppp1r16a	APN	15	76693978	missense	probably benign
IGL02331:Ppp1r16a	APN	15	76691000	missense	probably benign
R0057:Ppp1r16a	UTSW	15	76690799	unclassified	probably benign
R0060:Ppp1r16a	UTSW	15	76690799	unclassified	probably benign
R0113:Ppp1r16a	UTSW	15	76690799	unclassified	probably benign
R0114:Ppp1r16a	UTSW	15	76690799	unclassified	probably benign
R0244:Ppp1r16a	UTSW	15	76690799	unclassified	probably benign
R0646:Ppp1r16a	UTSW	15	76690799	unclassified	probably benign
R0652:Ppp1r16a	UTSW	15	76690799	unclassified	probably benign
R0722:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R0744:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R0833:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R0834:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R0835:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R0836:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R0885:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R0942:Ppp1r16a	UTSW	15	76694011	missense	probably damaging	0.98
R1061:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R1168:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R1170:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R1171:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R1503:Ppp1r16a	UTSW	15	76694399	missense	probably benign
R1572:Ppp1r16a	UTSW	15	76693669	nonsense	probably null
R1914:Ppp1r16a	UTSW	15	76693068	missense	probably damaging	1.00
R1915:Ppp1r16a	UTSW	15	76693068	missense	probably damaging	1.00
R2085:Ppp1r16a	UTSW	15	76693596	missense	probably damaging	0.99
R4823:Ppp1r16a	UTSW	15	76693193	unclassified	probably benign
R5153:Ppp1r16a	UTSW	15	76694396	nonsense	probably null
R5443:Ppp1r16a	UTSW	15	76694646	missense	possibly damaging	0.95
R5481:Ppp1r16a	UTSW	15	76691021	missense	probably damaging	1.00
R6900:Ppp1r16a	UTSW	15	76691723	missense	probably damaging	1.00
R7165:Ppp1r16a	UTSW	15	76690904	missense	probably damaging	1.00
R7686:Ppp1r16a	UTSW	15	76694583	missense	probably benign	0.37
R8138:Ppp1r16a	UTSW	15	76691721	missense	probably damaging	1.00
R9150:Ppp1r16a	UTSW	15	76690854	unclassified	probably benign

Predicted Primers

Posted On

2015-02-04