Mutagenetix > Incidental Mutations

Incidental Mutation 'R7686:Ppp1r16a'

593119

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7686 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76671615-76694919 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76694583 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 496 (S496C)

Ref Sequence

ENSEMBL: ENSMUSP00000037356 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000037551
AA Change: S496C

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819
AA Change: S496C

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

probably benign
Transcript: ENSMUST00000135388
AA Change: S496C

PolyPhen 2 Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)

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: ENSMUST00000229140

Predicted Effect

probably benign
Transcript: ENSMUST00000229679

Predicted Effect

probably benign
Transcript: ENSMUST00000229734

Predicted Effect

probably benign
Transcript: ENSMUST00000231028

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	G	7: 140,249,052	N208S	probably benign	Het
9930021J03Rik	A	T	19: 29,717,470	I1541N	probably benign	Het
Acadl	A	T	1: 66,848,398		probably null	Het
Adgrg5	A	T	8: 94,937,802	I347F		Het
Agmo	T	C	12: 37,419,974	V431A	probably benign	Het
Arl14epl	A	G	18: 46,932,456	D96G	probably damaging	Het
Asxl1	C	T	2: 153,391,614	S113F	probably damaging	Het
Axdnd1	A	T	1: 156,395,464	C81*	probably null	Het
Bloc1s3	C	T	7: 19,507,606		probably benign	Het
Bmper	C	G	9: 23,399,544	L425V	probably benign	Het
Bok	A	T	1: 93,695,100	T194S	probably benign	Het
Bpifa5	A	T	2: 154,165,512	I125L	probably benign	Het
Brpf3	T	C	17: 28,806,934	I327T	probably damaging	Het
Camk1	T	A	6: 113,336,197	N297Y	probably damaging	Het
Catsper2	C	T	2: 121,397,456		probably null	Het
Ccdc171	A	T	4: 83,657,319	N480I	unknown	Het
Cd163l1	T	A	7: 140,222,203	C148*	probably null	Het
Cd83	A	G	13: 43,785,372	M22V	probably benign	Het
Col1a2	A	G	6: 4,518,964	D243G	unknown	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Ctla4	A	T	1: 60,912,593	T94S	probably benign	Het
Cyp2b19	T	C	7: 26,762,343	F196S	probably damaging	Het
Dhx32	A	T	7: 133,759,701	M1K	probably null	Het
Epha3	T	A	16: 63,773,288	I146F	probably damaging	Het
Erbb2	T	A	11: 98,435,573	S1008T	probably benign	Het
Esp34	A	G	17: 38,559,643	R143G	possibly damaging	Het
Fam135b	T	C	15: 71,463,384	K654E	possibly damaging	Het
Fgr	T	C	4: 132,998,013	M343T	probably benign	Het
Fibcd1	T	G	2: 31,833,868	D253A	probably damaging	Het
Foxk1	C	T	5: 142,401,870	S116L	probably damaging	Het
Gimap8	G	A	6: 48,656,072	G275E	probably damaging	Het
Glp1r	T	C	17: 30,925,659	Y269H	probably damaging	Het
Gm5136	T	C	10: 108,699,440	E218G	probably damaging	Het
Gm9008	A	T	6: 76,497,030	L201H	probably damaging	Het
Hist2h2ac	T	C	3: 96,220,570	E92G	probably damaging	Het
Lbr	A	G	1: 181,817,521	F522S	probably damaging	Het
Lca5	T	C	9: 83,395,239	N684S	probably benign	Het
Leng8	C	A	7: 4,143,505	S372*	probably null	Het
Lrp2	A	G	2: 69,489,237	Y1981H	probably damaging	Het
Lrrc37a	T	G	11: 103,498,236	Q2121P	unknown	Het
Lrrn2	A	G	1: 132,938,594	T466A	probably benign	Het
Map3k19	A	T	1: 127,822,248	L1122*	probably null	Het
Mfsd6	T	C	1: 52,662,395	E632G	probably benign	Het
Mfsd6l	C	T	11: 68,557,226	A301V	probably benign	Het
Mro	A	T	18: 73,877,439	M197L	probably benign	Het
Ncam2	A	T	16: 81,621,454	E799V	probably damaging	Het
Nek9	A	T	12: 85,303,659	D880E	probably benign	Het
Ntng1	T	A	3: 109,935,014	I148L	possibly damaging	Het
Olfr1378	A	G	11: 50,969,755	T246A	possibly damaging	Het
Olfr205	T	A	16: 59,329,016	R164S	probably damaging	Het
P2ry13	C	T	3: 59,210,018	G113D	probably damaging	Het
Pnpt1	A	T	11: 29,157,070	T687S	probably damaging	Het
Pou2af1	T	C	9: 51,238,186	Y193H	probably damaging	Het
Ppp1r14c	T	A	10: 3,463,396	I143N	probably damaging	Het
Prdm12	G	A	2: 31,640,217	R40Q	probably damaging	Het
Rabepk	C	T	2: 34,779,296	G362S	probably damaging	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Robo2	C	A	16: 73,958,405	V743F	probably damaging	Het
Smg1	A	T	7: 118,167,858	Y1804N	unknown	Het
Ssh2	A	G	11: 77,425,324	E257G	possibly damaging	Het
Stoml3	T	C	3: 53,503,168	I101T	probably damaging	Het
Stxbp5	T	C	10: 9,769,410	D950G	probably damaging	Het
Syt10	T	C	15: 89,814,157	D328G	probably damaging	Het
Taf3	T	C	2: 9,951,488	K623E	probably damaging	Het
Tas2r134	T	A	2: 51,628,243	S245T	possibly damaging	Het
Tfap2b	G	C	1: 19,214,287	D140H	probably damaging	Het
Tjp3	C	T	10: 81,278,051	V458I	probably benign	Het
Tnpo3	G	T	6: 29,562,900	S606*	probably null	Het
Tram1l1	T	C	3: 124,321,310	F40L	probably benign	Het
Ttc29	A	T	8: 78,393,130	T464S	probably benign	Het
Txndc9	A	T	1: 37,987,768	M192K	probably benign	Het
Urb2	C	A	8: 124,045,172	A1444E	probably benign	Het
Uty	G	A	Y: 1,158,075	T657I	possibly damaging	Het
Vmn1r1	A	T	1: 182,158,025	V25D	probably damaging	Het
Vmn2r65	A	T	7: 84,940,536	I724N	probably damaging	Het
Xkr6	C	T	14: 63,606,846	T106M	possibly damaging	Het
Zc3h18	G	A	8: 122,413,876	R850Q	unknown	Het
Zfp341	A	G	2: 154,624,861	E50G	probably damaging	Het
Zfp62	C	A	11: 49,217,158	A692E	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
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
R8138:Ppp1r16a	UTSW	15	76691721	missense	probably damaging	1.00
R9150:Ppp1r16a	UTSW	15	76690854	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCGTCTAGATCGGAGTGTCTC -3'
(R):5'- CACAGGGGTATGTGCTAAGTG -3'

Sequencing Primer
(F):5'- CTATCATCTGAGTCCTGAGGAGAAC -3'
(R):5'- ATGTGCTAAGTGGGTCACC -3'

Posted On

2019-11-12