Mutagenetix > Incidental Mutation

Incidental Mutation 'R4823:Ppp1r16a'

371329

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

042439-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R4823 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

76671615-76694919 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 76693193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155475 (fasta)

Gene Model

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

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

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: ENSMUST00000231028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229856

Predicted Effect

probably benign
Transcript: ENSMUST00000229734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230283

Predicted Effect

probably benign
Transcript: ENSMUST00000229679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229340

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (96/98)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	A	5: 87,972,598 (GRCm38)	D405N	probably benign	Het
4921517D22Rik	T	G	13: 59,690,904 (GRCm38)	E38A	probably damaging	Het
4930433I11Rik	A	T	7: 40,993,362 (GRCm38)	I152F	probably benign	Het
5830473C10Rik	T	A	5: 90,566,503 (GRCm38)	L124H	probably benign	Het
Aass	A	T	6: 23,107,691 (GRCm38)	D364E	probably benign	Het
Adamts2	A	G	11: 50,737,187 (GRCm38)	D238G	probably benign	Het
Aplf	G	A	6: 87,646,255 (GRCm38)	L302F	probably damaging	Het
Apol7b	G	T	15: 77,427,782 (GRCm38)		probably benign	Het
Arhgef12	A	G	9: 43,020,696 (GRCm38)	V165A	probably benign	Het
Ascc3	T	C	10: 50,713,233 (GRCm38)	S1017P	probably damaging	Het
B230104I21Rik	T	A	4: 154,349,747 (GRCm38)		probably benign	Het
Bfsp2	C	A	9: 103,479,883 (GRCm38)	C115F	probably damaging	Het
Bhmt2	A	T	13: 93,663,290 (GRCm38)	W213R	probably benign	Het
C87499	T	C	4: 88,629,215 (GRCm38)	K160R	probably damaging	Het
Capn5	A	T	7: 98,126,441 (GRCm38)	V431E	probably damaging	Het
Ccdc88c	A	G	12: 100,930,543 (GRCm38)	Y1390H	probably damaging	Het
Ccr3	A	G	9: 124,028,681 (GRCm38)	T18A	probably damaging	Het
Cdh5	T	C	8: 104,142,669 (GRCm38)	S676P	probably benign	Het
Ceacam5	A	G	7: 17,757,744 (GRCm38)	T680A	possibly damaging	Het
Cebpd	G	A	16: 15,888,114 (GRCm38)	G264S	probably benign	Het
Cfd	T	C	10: 79,890,948 (GRCm38)	V8A	probably benign	Het
Cops9	C	T	1: 92,641,866 (GRCm38)		probably benign	Het
Cpne6	T	C	14: 55,517,010 (GRCm38)	Y533H	probably damaging	Het
Cyp2c67	T	A	19: 39,615,724 (GRCm38)	H396L	probably benign	Het
Cyp2j9	G	A	4: 96,568,735 (GRCm38)	P500S	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,413 (GRCm38)		probably null	Het
Dbt	G	A	3: 116,523,387 (GRCm38)	D71N	probably damaging	Het
Ddx41	G	T	13: 55,532,055 (GRCm38)	Q440K	probably benign	Het
Doxl2	A	G	6: 48,975,261 (GRCm38)	D40G	probably damaging	Het
Elovl4	A	G	9: 83,780,685 (GRCm38)	F174S	probably damaging	Het
Emcn	C	G	3: 137,423,426 (GRCm38)	P193R	probably damaging	Het
Etnk1	T	C	6: 143,167,638 (GRCm38)		probably null	Het
Fads3	A	C	19: 10,041,888 (GRCm38)	S53R	probably damaging	Het
Fam193a	A	G	5: 34,459,028 (GRCm38)	E849G	probably damaging	Het
Fat3	A	G	9: 15,996,507 (GRCm38)	V2733A	probably benign	Het
Frem3	T	A	8: 80,613,958 (GRCm38)	M960K	probably benign	Het
Frmd6	A	T	12: 70,872,575 (GRCm38)	I62L	probably benign	Het
Glmp	T	C	3: 88,325,223 (GRCm38)		probably benign	Het
Gm17421	T	C	12: 113,369,541 (GRCm38)		noncoding transcript	Het
Gm27013	T	A	6: 130,522,223 (GRCm38)		noncoding transcript	Het
Gtf2ird1	A	G	5: 134,395,722 (GRCm38)	V390A	probably damaging	Het
Hps3	A	G	3: 20,012,726 (GRCm38)	Y559H	probably benign	Het
Hsh2d	G	A	8: 72,200,460 (GRCm38)	D229N	probably benign	Het
Itpr3	A	G	17: 27,085,147 (GRCm38)	D114G	probably benign	Het
Jmjd4	G	A	11: 59,455,580 (GRCm38)	A408T	probably benign	Het
Kcnh4	G	T	11: 100,755,174 (GRCm38)	A316D	probably damaging	Het
Klrg1	T	A	6: 122,273,533 (GRCm38)		probably null	Het
Lancl2	T	A	6: 57,732,277 (GRCm38)	Y355N	probably damaging	Het
Ltb	T	C	17: 35,195,230 (GRCm38)	S115P	probably benign	Het
Mccc2	T	G	13: 100,000,254 (GRCm38)	R64S	probably benign	Het
Mgam2-ps	T	A	6: 40,832,662 (GRCm38)		noncoding transcript	Het
Mrrf	T	G	2: 36,148,030 (GRCm38)	N104K	possibly damaging	Het
Nipa1	C	A	7: 55,979,688 (GRCm38)	V226L	possibly damaging	Het
Numa1	T	A	7: 101,996,037 (GRCm38)	L290Q	probably damaging	Het
Ofcc1	T	A	13: 40,280,473 (GRCm38)	H52L	probably damaging	Het
Ogfod3	G	A	11: 121,195,201 (GRCm38)	A189V	probably benign	Het
Olfr1176	A	G	2: 88,339,835 (GRCm38)	D90G	probably damaging	Het
Olfr1444	A	T	19: 12,861,816 (GRCm38)	I14F	probably benign	Het
Olfr1505	G	A	19: 13,919,658 (GRCm38)	V213I	probably benign	Het
Olfr292	T	A	7: 86,694,588 (GRCm38)	I44N	probably damaging	Het
P2ry12	G	A	3: 59,217,897 (GRCm38)	S119L	probably benign	Het
Pde7b	T	A	10: 20,438,785 (GRCm38)	N192Y	probably damaging	Het
Pfkl	T	C	10: 77,997,594 (GRCm38)	N258S	probably damaging	Het
Phykpl	G	A	11: 51,586,593 (GRCm38)	A71T	probably damaging	Het
Pramef20	T	C	4: 144,373,211 (GRCm38)	N328S	possibly damaging	Het
Prune2	C	T	19: 17,120,504 (GRCm38)	T1124M	probably damaging	Het
Rapgef6	A	G	11: 54,694,500 (GRCm38)	I1570V	probably benign	Het
Rbm34	T	C	8: 126,970,905 (GRCm38)	S19G	probably benign	Het
Rnf10	T	C	5: 115,255,442 (GRCm38)		probably null	Het
Rnf34	A	G	5: 122,850,302 (GRCm38)		probably null	Het
Setd4	A	G	16: 93,589,950 (GRCm38)	S287P	probably benign	Het
Shc3	C	T	13: 51,451,570 (GRCm38)	V225I	probably benign	Het
Sipa1l3	C	T	7: 29,371,002 (GRCm38)	V1030I	probably damaging	Het
Siva1	G	T	12: 112,645,064 (GRCm38)	R33L	probably damaging	Het
Slc4a5	C	T	6: 83,272,133 (GRCm38)	T573I	probably damaging	Het
Sorcs1	T	C	19: 50,230,302 (GRCm38)	I581V	possibly damaging	Het
Sorcs1	C	T	19: 50,678,140 (GRCm38)	R110Q	possibly damaging	Het
Sorl1	T	C	9: 41,992,321 (GRCm38)	D1545G	probably damaging	Het
Tas2r124	T	G	6: 132,755,546 (GRCm38)	S273A	probably damaging	Het
Tcf15	T	C	2: 152,143,893 (GRCm38)	F90L	probably damaging	Het
Trim59	G	A	3: 69,037,120 (GRCm38)	R296C	probably benign	Het
Tulp1	A	T	17: 28,353,572 (GRCm38)	D229E	probably benign	Het
Ush1c	T	A	7: 46,195,733 (GRCm38)	N886I	probably benign	Het
Usp9y	A	T	Y: 1,444,559 (GRCm38)	S127T	probably damaging	Het
Vmn1r19	T	A	6: 57,405,234 (GRCm38)	Y257*	probably null	Het
Vmn2r109	A	T	17: 20,553,891 (GRCm38)	Y401N	probably damaging	Het
Vmn2r69	A	C	7: 85,411,300 (GRCm38)	S359A	probably benign	Het
Zfp37	A	T	4: 62,191,503 (GRCm38)	N479K	probably benign	Het

Other mutations in Ppp1r16a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:Ppp1r16a	APN	15	76,694,544 (GRCm38)	missense	probably benign
IGL01449:Ppp1r16a	APN	15	76,694,294 (GRCm38)	unclassified	probably benign
IGL02128:Ppp1r16a	APN	15	76,693,978 (GRCm38)	missense	probably benign
IGL02331:Ppp1r16a	APN	15	76,691,000 (GRCm38)	missense	probably benign
R0057:Ppp1r16a	UTSW	15	76,690,799 (GRCm38)	unclassified	probably benign
R0060:Ppp1r16a	UTSW	15	76,690,799 (GRCm38)	unclassified	probably benign
R0113:Ppp1r16a	UTSW	15	76,690,799 (GRCm38)	unclassified	probably benign
R0114:Ppp1r16a	UTSW	15	76,690,799 (GRCm38)	unclassified	probably benign
R0244:Ppp1r16a	UTSW	15	76,690,799 (GRCm38)	unclassified	probably benign
R0352:Ppp1r16a	UTSW	15	76,690,799 (GRCm38)	unclassified	probably benign
R0646:Ppp1r16a	UTSW	15	76,690,799 (GRCm38)	unclassified	probably benign
R0652:Ppp1r16a	UTSW	15	76,690,799 (GRCm38)	unclassified	probably benign
R0722:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R0744:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R0833:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R0834:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R0835:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R0836:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R0885:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R0942:Ppp1r16a	UTSW	15	76,694,011 (GRCm38)	missense	probably damaging	0.98
R1061:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R1168:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R1170:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R1171:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R1503:Ppp1r16a	UTSW	15	76,694,399 (GRCm38)	missense	probably benign
R1572:Ppp1r16a	UTSW	15	76,693,669 (GRCm38)	nonsense	probably null
R1914:Ppp1r16a	UTSW	15	76,693,068 (GRCm38)	missense	probably damaging	1.00
R1915:Ppp1r16a	UTSW	15	76,693,068 (GRCm38)	missense	probably damaging	1.00
R2085:Ppp1r16a	UTSW	15	76,693,596 (GRCm38)	missense	probably damaging	0.99
R5153:Ppp1r16a	UTSW	15	76,694,396 (GRCm38)	nonsense	probably null
R5443:Ppp1r16a	UTSW	15	76,694,646 (GRCm38)	missense	possibly damaging	0.95
R5481:Ppp1r16a	UTSW	15	76,691,021 (GRCm38)	missense	probably damaging	1.00
R6900:Ppp1r16a	UTSW	15	76,691,723 (GRCm38)	missense	probably damaging	1.00
R7165:Ppp1r16a	UTSW	15	76,690,904 (GRCm38)	missense	probably damaging	1.00
R7686:Ppp1r16a	UTSW	15	76,694,583 (GRCm38)	missense	probably benign	0.37
R8138:Ppp1r16a	UTSW	15	76,691,721 (GRCm38)	missense	probably damaging	1.00
R9150:Ppp1r16a	UTSW	15	76,690,854 (GRCm38)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCAGGTATCACCCAGGAG -3'
(R):5'- CACAAGCAATTCTACCAGGTGTAC -3'

Sequencing Primer
(F):5'- CCAGGAGGGCATTGAGGAG -3'
(R):5'- TCTAGTGAGAGCCCGGAACCTAC -3'

Posted On

2016-03-01