Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:Ppp1r16a'

101384

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r16a

Ensembl Gene

ENSMUSG00000033819

Gene Name

protein phosphatase 1, regulatory subunit 16A

Synonyms

2900084E10Rik, R75527, Mypt3

MMRRC Submission

039241-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1168 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

76555843-76579119 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 76577869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 328 (Q328*)

Ref Sequence

ENSEMBL: ENSMUSP00000155515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023203] [ENSMUST00000037551] [ENSMUST00000135388] [ENSMUST00000231028] [ENSMUST00000229734] [ENSMUST00000150399] [ENSMUST00000229679] [ENSMUST00000229140]

AlphaFold

Q923M0

Predicted Effect

probably benign
Transcript: ENSMUST00000023203

SMART Domains

Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	83	484	7.8e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000037551
AA Change: Q328*

SMART Domains

Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819
AA Change: Q328*

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 null
Transcript: ENSMUST00000135388
AA Change: Q328*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230283

Predicted Effect

probably benign
Transcript: ENSMUST00000231028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228987

Predicted Effect

probably benign
Transcript: ENSMUST00000156920

Predicted Effect

probably benign
Transcript: ENSMUST00000229734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230482

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: ENSMUST00000229679

Predicted Effect

probably benign
Transcript: ENSMUST00000229140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229340

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.2%
20x: 88.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,661 (GRCm39)	V950A	probably benign	Het
Adgrb3	A	T	1: 25,865,280 (GRCm39)	S188T	probably benign	Het
Ahr	A	T	12: 35,554,531 (GRCm39)	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,633,836 (GRCm39)	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,260,530 (GRCm39)		probably null	Het
Alpk3	A	T	7: 80,753,105 (GRCm39)	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,250,330 (GRCm39)	H360Q	probably benign	Het
Cacna1a	A	G	8: 85,306,130 (GRCm39)	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,653,307 (GRCm39)	W72R	probably damaging	Het
Ces2e	A	T	8: 105,653,646 (GRCm39)	D28V	possibly damaging	Het
Cfap20dc	T	C	14: 8,442,939 (GRCm38)	N610S	probably benign	Het
Cfap45	T	C	1: 172,373,264 (GRCm39)	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,773,782 (GRCm39)	C87S	probably damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Chrna4	T	A	2: 180,675,931 (GRCm39)	M67L	possibly damaging	Het
Cplx3	G	A	9: 57,515,595 (GRCm39)	R427C	probably benign	Het
Cts7	T	A	13: 61,501,631 (GRCm39)	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,483,489 (GRCm39)	M94L	probably damaging	Het
Fam83d	C	T	2: 158,610,443 (GRCm39)	A137V	probably benign	Het
Foxd2	C	T	4: 114,764,875 (GRCm39)	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,455,244 (GRCm39)	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,594,481 (GRCm39)	D856E	probably damaging	Het
Gclm	T	A	3: 122,056,337 (GRCm39)	H86Q	possibly damaging	Het
Gipc2	T	C	3: 151,813,634 (GRCm39)	T220A	probably benign	Het
Gm12185	G	T	11: 48,806,182 (GRCm39)	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,786,191 (GRCm39)	S61R	probably benign	Het
Gorasp2	C	T	2: 70,518,744 (GRCm39)	P260S	probably damaging	Het
H2-M10.6	A	G	17: 37,124,052 (GRCm39)	Q172R	probably benign	Het
Ibsp	A	G	5: 104,450,018 (GRCm39)	I6V	probably damaging	Het
Iqsec1	T	C	6: 90,666,658 (GRCm39)	Y593C	probably damaging	Het
Irag1	T	C	7: 110,495,138 (GRCm39)	K429R	probably damaging	Het
Itln1	G	T	1: 171,359,119 (GRCm39)	Y61*	probably null	Het
Kif21a	G	A	15: 90,877,956 (GRCm39)	T284I	probably damaging	Het
Kif3a	G	A	11: 53,489,139 (GRCm39)	G621R	probably damaging	Het
Klb	A	G	5: 65,536,317 (GRCm39)	Y549C	probably damaging	Het
Lrrc37	T	C	11: 103,509,776 (GRCm39)		probably benign	Het
Map4	T	C	9: 109,864,032 (GRCm39)	V419A	probably benign	Het
Mastl	A	T	2: 23,023,144 (GRCm39)	D526E	probably benign	Het
Mtif2	A	G	11: 29,486,914 (GRCm39)	D308G	probably benign	Het
Ncald	A	G	15: 37,397,578 (GRCm39)	F34S	probably damaging	Het
Ndc1	A	G	4: 107,253,009 (GRCm39)	T593A	probably benign	Het
Ndst3	C	T	3: 123,400,617 (GRCm39)	V15I	probably benign	Het
Nup214	A	G	2: 31,915,313 (GRCm39)	N1166D	probably benign	Het
Or1a1	A	G	11: 74,087,247 (GRCm39)	H306R	probably benign	Het
Or2ad1	A	G	13: 21,326,787 (GRCm39)	S147P	probably benign	Het
Or4a68	G	A	2: 89,270,213 (GRCm39)	Q137*	probably null	Het
Or5m8	A	T	2: 85,823,028 (GRCm39)	Y289F	probably damaging	Het
Pcdhb8	T	C	18: 37,489,780 (GRCm39)	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,668,152 (GRCm39)	Y768F	probably benign	Het
Pgf	A	G	12: 85,218,541 (GRCm39)	S70P	probably benign	Het
Plcl2	G	A	17: 50,914,100 (GRCm39)	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,511,961 (GRCm39)	W115R	probably benign	Het
Prag1	A	G	8: 36,613,799 (GRCm39)	E1117G	probably damaging	Het
Prr12	T	A	7: 44,678,471 (GRCm39)	Q1919L	unknown	Het
Ret	G	T	6: 118,150,519 (GRCm39)	H666N	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Robo2	C	T	16: 73,745,184 (GRCm39)	G864S	probably damaging	Het
Rpa2	T	G	4: 132,499,171 (GRCm39)	I80S	probably damaging	Het
Ryk	A	T	9: 102,775,674 (GRCm39)	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,901,204 (GRCm39)	N30K	probably damaging	Het
Stbd1	A	G	5: 92,752,795 (GRCm39)	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,176,335 (GRCm39)	E212G	probably benign	Het
Tex14	A	G	11: 87,427,568 (GRCm39)	T7A	probably benign	Het
Tmc8	T	C	11: 117,683,389 (GRCm39)	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,864,083 (GRCm39)	V730F	probably damaging	Het
Tmub2	G	A	11: 102,178,196 (GRCm39)	G33D	possibly damaging	Het
Trak1	G	A	9: 121,269,745 (GRCm39)	D124N	probably damaging	Het
Ttc28	A	T	5: 111,378,977 (GRCm39)	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,739,713 (GRCm39)	T3609A	probably benign	Het
Tulp2	A	G	7: 45,167,266 (GRCm39)	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,613,427 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,410,608 (GRCm39)	V2419I	probably benign	Het
Vill	C	A	9: 118,899,389 (GRCm39)	P343Q	probably damaging	Het
Vmn2r66	T	A	7: 84,656,062 (GRCm39)	H318L	possibly damaging	Het
Wdr3	A	C	3: 100,049,535 (GRCm39)	N800K	probably benign	Het
Wdr93	A	G	7: 79,398,922 (GRCm39)	K19E	probably damaging	Het
Wrn	A	G	8: 33,806,436 (GRCm39)	S333P	probably damaging	Het
Zfp418	T	C	7: 7,185,500 (GRCm39)	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,087,041 (GRCm39)	E290G	probably benign	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
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
R5481:Ppp1r16a	UTSW	15	76,575,221 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-01-15