Mutagenetix > Incidental Mutations

Incidental Mutation 'R5481:Ppp1r16a'

434352

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

043042-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5481 (G1)

Quality Score

146

Status

Not validated

Chromosome

Chromosomal Location

76671615-76694919 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 76691021 bp (GRCm38)

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] [ENSMUST00000229679] [ENSMUST00000231028]

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

noncoding transcript
Transcript: ENSMUST00000143274

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

probably benign
Transcript: ENSMUST00000156920

Predicted Effect

probably benign
Transcript: ENSMUST00000229679

Predicted Effect

probably benign
Transcript: ENSMUST00000231028

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: 109,505,562	S187P	probably damaging	Het
Aass	C	A	6: 23,113,476	V282L	probably benign	Het
Adh6a	G	T	3: 138,325,958	V204F	probably damaging	Het
Aspm	A	G	1: 139,457,061	K148E	possibly damaging	Het
Atp12a	A	T	14: 56,373,389	D330V	possibly damaging	Het
Barhl1	A	G	2: 28,915,340	Y114H	probably damaging	Het
BC106179	T	A	16: 23,224,168		probably benign	Het
Cabin1	A	G	10: 75,735,066	L792P	probably benign	Het
Calcoco2	A	G	11: 96,107,543	V18A	probably damaging	Het
Chpf2	A	T	5: 24,589,342	H170L	probably damaging	Het
Chrna1	T	A	2: 73,566,926	I340F	possibly damaging	Het
Ckap5	A	T	2: 91,572,447	I690F	possibly damaging	Het
Col10a1	A	G	10: 34,395,664	H544R	probably benign	Het
Cyp2b19	A	C	7: 26,766,821	T350P	probably damaging	Het
Dgkq	A	G	5: 108,648,810		probably null	Het
Dnah1	A	G	14: 31,308,871	V443A	possibly damaging	Het
Erbb3	T	C	10: 128,572,480	D855G	probably damaging	Het
Fam3c	T	C	6: 22,321,358	D138G	probably benign	Het
Fen1	A	G	19: 10,200,658	C141R	probably damaging	Het
Flnc	G	A	6: 29,441,217	G390D	probably damaging	Het
Fnip1	C	A	11: 54,502,644	D635E	probably benign	Het
Fry	A	T	5: 150,260,319	L17F	probably benign	Het
Fsip2	T	C	2: 82,979,886	I2183T	probably benign	Het
Gfpt1	T	A	6: 87,050,969	I19N	probably damaging	Het
Gm9774	A	G	3: 92,429,351	S15P	possibly damaging	Het
Hus1b	T	C	13: 30,946,959	D239G	probably benign	Het
Kif1a	T	C	1: 93,060,244	K546R	probably benign	Het
Kmt2d	A	G	15: 98,862,005	V1124A	unknown	Het
Krtap16-1	A	G	11: 99,985,327	I417T	probably damaging	Het
Manba	A	T	3: 135,524,556	N297Y	possibly damaging	Het
Mblac1	A	G	5: 138,194,816	D140G	probably damaging	Het
Mlh1	T	C	9: 111,229,837		probably null	Het
Morc1	T	A	16: 48,561,485		probably null	Het
Morc3	C	A	16: 93,862,655	P449Q	probably damaging	Het
Mtr	T	C	13: 12,188,155		probably null	Het
Mylk	T	A	16: 34,921,604	C829S	probably benign	Het
Myo1d	A	G	11: 80,663,095	I520T	possibly damaging	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Nos1	A	T	5: 117,867,754	I180F	probably benign	Het
Ntsr1	C	T	2: 180,541,520	T341M	possibly damaging	Het
Olfr916	A	T	9: 38,657,620	F257L	probably benign	Het
P2rx7	A	G	5: 122,680,820	D435G	possibly damaging	Het
Peli2	C	A	14: 48,252,633	N136K	probably damaging	Het
Pigt	C	A	2: 164,506,422	P429H	probably damaging	Het
Pik3r2	T	C	8: 70,769,764	I515V	probably benign	Het
Pkhd1l1	A	G	15: 44,558,646	Y3104C	probably damaging	Het
Ptpn18	T	C	1: 34,471,663	L260P	possibly damaging	Het
Scaf11	A	T	15: 96,420,617	S355R	probably damaging	Het
Sema4a	A	T	3: 88,453,040	Y77*	probably null	Het
Serpinb9b	T	C	13: 33,038,093	V230A	possibly damaging	Het
Sfswap	T	A	5: 129,514,818	S300T	probably damaging	Het
Slc22a30	T	C	19: 8,336,837	N495S	probably benign	Het
Srcap	G	A	7: 127,532,197	G836D	probably damaging	Het
Stard4	A	C	18: 33,205,245	C137W	probably benign	Het
Stat6	A	G	10: 127,647,826		probably null	Het
Steap3	T	C	1: 120,241,724	D243G	probably benign	Het
Taf1c	A	G	8: 119,599,240	S628P	probably damaging	Het
Unkl	C	T	17: 25,201,172	Q13*	probably null	Het
Usp38	A	G	8: 80,993,323	S426P	possibly damaging	Het
Vmn2r8	T	C	5: 108,801,770	T404A	probably benign	Het
Washc1	T	C	17: 66,118,865	V425A	probably benign	Het
Zfyve9	A	G	4: 108,644,349	I590T	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
R0352: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
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

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