Mutagenetix > Incidental Mutation

Incidental Mutation 'R1171:Ppp1r16a'

99476

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

039244-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R1171 (G1)

Quality Score

146

Status

Not validated

Chromosome

Chromosomal Location

76671615-76694919 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 76693669 bp (GRCm38)

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] [ENSMUST00000150399] [ENSMUST00000231028] [ENSMUST00000229734] [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: 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

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: ENSMUST00000229679

Predicted Effect

probably benign
Transcript: ENSMUST00000229140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229340

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 96.2%
20x: 91.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	C	19: 11,112,377	Y48C	probably damaging	Het
Acsm5	A	T	7: 119,540,852	E492V	probably damaging	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atr	T	C	9: 95,907,323	F1511L	probably damaging	Het
BC005561	T	C	5: 104,520,903	V1097A	possibly damaging	Het
Bdkrb2	G	T	12: 105,592,157	R219L	probably benign	Het
Bhmt2	A	T	13: 93,662,329	M328K	probably benign	Het
Btbd3	A	G	2: 138,283,961	D286G	probably benign	Het
Bub1b	T	G	2: 118,606,686	L122V	probably benign	Het
Caml	T	C	13: 55,625,007	S155P	probably damaging	Het
Cfap43	T	C	19: 47,835,711	K74E	probably benign	Het
Chst4	A	G	8: 110,030,623	S120P	probably damaging	Het
Col11a1	A	G	3: 114,066,564	D213G	unknown	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Cxcl10	CAC	CACTAAC	5: 92,348,086		probably null	Het
Cyp26b1	A	T	6: 84,576,671	I167N	possibly damaging	Het
Dchs1	A	G	7: 105,757,714	S2195P	probably benign	Het
Ddx25	T	A	9: 35,546,846	K326*	probably null	Het
Dip2c	A	T	13: 9,493,126	Y36F	possibly damaging	Het
Dock2	T	C	11: 34,695,241	D538G	probably damaging	Het
E4f1	C	T	17: 24,451,549	D55N	probably damaging	Het
Emp1	G	T	6: 135,381,079	W141L	probably damaging	Het
Faim2	T	A	15: 99,500,254	H271L	probably benign	Het
Fbxw9	T	C	8: 85,066,078	M352T	possibly damaging	Het
Fcrls	A	T	3: 87,256,860	F321I	probably benign	Het
Frzb	C	T	2: 80,438,490		probably null	Het
Gal3st1	G	T	11: 3,998,931	K379N	probably damaging	Het
Gm5519	G	A	19: 33,822,972	C22Y	possibly damaging	Het
Gpn3	T	C	5: 122,378,520	F71L	probably benign	Het
H2-M9	A	G	17: 36,641,653	V167A	probably benign	Het
Hars	A	G	18: 36,771,414	F182L	possibly damaging	Het
Hid1	T	C	11: 115,352,717	T502A	probably benign	Het
Hipk3	G	T	2: 104,471,676	T57K	probably benign	Het
Iqsec2	A	G	X: 152,144,731	S87G	probably benign	Het
Itpk1	G	A	12: 102,606,119	L112F	probably damaging	Het
Klk9	T	A	7: 43,794,393	D110E	possibly damaging	Het
Lemd3	A	T	10: 120,949,341	M535K	possibly damaging	Het
Lipg	A	T	18: 74,945,823	S453T	possibly damaging	Het
Lrrc75a	A	T	11: 62,609,243	W150R	probably damaging	Het
Lyg1	T	C	1: 37,947,224	E143G	probably damaging	Het
Map3k1	A	G	13: 111,755,643	V1026A	probably benign	Het
Mgat3	T	A	15: 80,211,637	F222I	probably benign	Het
Mindy4	A	T	6: 55,255,616	N348I	possibly damaging	Het
Myo1b	A	C	1: 51,778,525	F532C	probably damaging	Het
Naif1	T	A	2: 32,452,546	N36K	probably damaging	Het
Nkpd1	C	A	7: 19,524,087	A597E	possibly damaging	Het
Npr2	A	G	4: 43,647,260	D772G	possibly damaging	Het
Olfr2	T	C	7: 107,001,584	N92S	probably benign	Het
Olfr658	T	G	7: 104,644,997	D123A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Pdgfra	A	T	5: 75,173,447	I394F	probably damaging	Het
Pdzrn3	G	A	6: 101,150,877	R943C	probably damaging	Het
Pml	A	G	9: 58,234,538	V337A	probably damaging	Het
Pnpla2	T	A	7: 141,458,881	M321K	probably benign	Het
Poln	A	T	5: 34,103,940	N546K	probably damaging	Het
Prss28	T	A	17: 25,310,055	F123L	possibly damaging	Het
Psg18	A	G	7: 18,346,079	V399A	probably benign	Het
Rab5a	T	C	17: 53,506,415	C212R	probably damaging	Het
Ranbp6	A	T	19: 29,812,279	D224E	probably benign	Het
Recql4	T	C	15: 76,704,039	I1104M	possibly damaging	Het
Rev1	A	T	1: 38,088,500	N226K	possibly damaging	Het
Rhbdl3	T	A	11: 80,353,592	V375E	possibly damaging	Het
Senp6	T	A	9: 80,116,725	N423K	possibly damaging	Het
Sertad2	C	G	11: 20,648,091	L96V	probably benign	Het
Slc33a1	T	A	3: 63,953,894	T296S	probably benign	Het
Smurf2	G	A	11: 106,852,618	P188S	possibly damaging	Het
Spta1	T	A	1: 174,211,614	Y1174*	probably null	Het
Stra6l	A	T	4: 45,864,982	T103S	probably benign	Het
Swt1	C	T	1: 151,405,521	A352T	probably damaging	Het
Tdgf1	C	A	9: 110,943,167	V54L	probably benign	Het
Tigd2	T	A	6: 59,211,376	N409K	possibly damaging	Het
Tlr6	G	T	5: 64,955,250	H105N	probably benign	Het
Tmprss9	A	C	10: 80,879,858	T15P	possibly damaging	Het
Tnik	C	T	3: 28,532,940	T120M	probably damaging	Het
Tnr	T	A	1: 159,858,210	I337N	probably damaging	Het
Top3a	A	G	11: 60,750,593	Y422H	probably benign	Het
Trim67	A	G	8: 124,829,081	N768S	probably damaging	Het
Ttn	A	G	2: 76,705,966	V35016A	probably benign	Het
Utrn	A	C	10: 12,481,308	S312R	probably damaging	Het
Vdac2	A	G	14: 21,837,811	Y62C	probably damaging	Het
Vwa5b2	A	G	16: 20,604,984	T1216A	probably benign	Het
Wfdc16	T	C	2: 164,638,483	K31E	possibly damaging	Het
Wtip	C	T	7: 34,125,496	C221Y	probably damaging	Het
Xrn1	A	G	9: 95,991,011	D640G	possibly damaging	Het
Zdhhc5	T	C	2: 84,692,341	R293G	probably benign	Het
Zfp536	T	C	7: 37,569,634	D119G	probably damaging	Het
Zfp81	T	C	17: 33,335,280	T187A	probably benign	Het
Zfp810	C	T	9: 22,278,826	G262D	possibly damaging	Het
Zfp963	A	C	8: 69,743,019	I203M	possibly damaging	Het
Zfpm2	T	C	15: 41,101,679	M520T	probably damaging	Het
Zswim8	G	A	14: 20,713,113	R360Q	possibly damaging	Het
Zwilch	T	A	9: 64,158,717	H254L	possibly 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
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

2014-01-15