Mutagenetix > Incidental Mutation

Incidental Mutation 'R0744:Ppp1r16a'

70884

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r16a

Ensembl Gene

ENSMUSG00000033819

Gene Name

protein phosphatase 1, regulatory subunit 16A

Synonyms

2900084E10Rik, R75527, Mypt3

MMRRC Submission

038925-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0744 (G1)

Quality Score

225

Status

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (91/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,000,931 (GRCm39)	L41P	probably damaging	Het
A930003A15Rik	T	C	16: 19,702,622 (GRCm39)		noncoding transcript	Het
Abca8a	A	T	11: 109,931,390 (GRCm39)	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,376,323 (GRCm39)	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,237,135 (GRCm39)	D92G	possibly damaging	Het
Aebp2	T	G	6: 140,588,090 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,026,283 (GRCm39)	Y6C	probably damaging	Het
Ascc3	T	C	10: 50,721,762 (GRCm39)	W2072R	probably benign	Het
Asxl3	A	G	18: 22,649,097 (GRCm39)	D362G	probably damaging	Het
Baiap2l1	T	A	5: 144,203,451 (GRCm39)	D479V	probably benign	Het
Bdp1	A	T	13: 100,172,333 (GRCm39)	H2094Q	probably benign	Het
Bptf	C	A	11: 107,001,638 (GRCm39)		probably null	Het
Camk4	G	T	18: 33,072,507 (GRCm39)	S20I	unknown	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd209e	G	T	8: 3,903,205 (GRCm39)	D62E	probably benign	Het
Cd226	A	C	18: 89,225,144 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,768,784 (GRCm39)	D605G	probably benign	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
Dmxl1	T	C	18: 49,966,215 (GRCm39)	V20A	probably damaging	Het
Dzip3	A	G	16: 48,780,038 (GRCm39)	Y301H	probably damaging	Het
Ephb4	T	A	5: 137,363,929 (GRCm39)	N600K	probably damaging	Het
Erich6	T	A	3: 58,543,543 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,156,734 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,246,424 (GRCm39)		probably benign	Het
Galnt17	T	A	5: 131,179,754 (GRCm39)	D131V	probably damaging	Het
Gm6619	T	A	6: 131,467,297 (GRCm39)	L54Q	probably damaging	Het
Herc2	T	C	7: 55,855,784 (GRCm39)		probably benign	Het
Hic1	T	A	11: 75,056,627 (GRCm39)	Q754L	possibly damaging	Het
Hnf4g	A	T	3: 3,716,689 (GRCm39)	D286V	possibly damaging	Het
Iho1	A	T	9: 108,282,000 (GRCm39)	C563S	probably benign	Het
Itgb5	A	G	16: 33,720,953 (GRCm39)	K339R	probably damaging	Het
Itih1	A	T	14: 30,663,512 (GRCm39)	V164E	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Lamp1	T	A	8: 13,222,654 (GRCm39)	F279L	probably damaging	Het
Lrfn5	A	C	12: 61,886,454 (GRCm39)	T81P	probably damaging	Het
Lrrc58	A	G	16: 37,698,935 (GRCm39)		probably benign	Het
Marchf6	T	C	15: 31,480,437 (GRCm39)	Y562C	probably benign	Het
Mark1	T	A	1: 184,653,805 (GRCm39)	I166F	probably damaging	Het
Mark2	A	G	19: 7,263,189 (GRCm39)	Y193H	probably damaging	Het
Mast4	C	G	13: 102,873,895 (GRCm39)	Q1632H	probably damaging	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Mgst3	A	G	1: 167,201,374 (GRCm39)	Y104H	probably damaging	Het
Mlxipl	C	T	5: 135,161,329 (GRCm39)	T416I	possibly damaging	Het
Mthfd2l	T	C	5: 91,094,801 (GRCm39)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Muc1	C	A	3: 89,137,635 (GRCm39)	P159Q	possibly damaging	Het
Myom2	A	T	8: 15,182,924 (GRCm39)	K1454*	probably null	Het
Myt1	TGAGGAGGAGGAGGAGGAGG	TGAGGAGGAGGAGGAGG	2: 181,439,298 (GRCm39)		probably benign	Het
Or10g3b	T	C	14: 52,586,835 (GRCm39)	I223V	probably benign	Het
Or2t29	T	A	11: 58,433,988 (GRCm39)	M105L	possibly damaging	Het
Or52ae9	T	C	7: 103,390,132 (GRCm39)	H105R	probably damaging	Het
Or56b1b	T	C	7: 108,164,205 (GRCm39)	T266A	possibly damaging	Het
Or8b1c	A	T	9: 38,384,081 (GRCm39)	I13F	probably benign	Het
Pdcd6	A	G	13: 74,464,443 (GRCm39)		probably benign	Het
Pramel23	A	T	4: 143,425,056 (GRCm39)	M129K	probably benign	Het
Pzp	A	G	6: 128,493,158 (GRCm39)		probably benign	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapgef3	G	A	15: 97,659,466 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rgs11	T	A	17: 26,422,292 (GRCm39)	M29K	probably damaging	Het
Rictor	A	G	15: 6,793,759 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Samd9l	T	C	6: 3,372,725 (GRCm39)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,427,050 (GRCm39)	A127T	probably benign	Het
Slc22a28	T	C	19: 8,094,197 (GRCm39)	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,745,300 (GRCm39)	H78L	probably benign	Het
Slc26a1	T	A	5: 108,821,389 (GRCm39)	T167S	probably benign	Het
Slc2a12	T	C	10: 22,577,915 (GRCm39)		probably benign	Het
Slc44a5	T	C	3: 153,971,111 (GRCm39)	S654P	probably damaging	Het
Slc51a	T	A	16: 32,294,667 (GRCm39)	T306S	probably benign	Het
Slc6a13	T	G	6: 121,279,826 (GRCm39)	W67G	probably damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,059,313 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,627,465 (GRCm39)	I86L	probably damaging	Het
Spata31e5	A	G	1: 28,816,902 (GRCm39)	S377P	possibly damaging	Het
Supt20	T	A	3: 54,622,122 (GRCm39)	Y409N	probably damaging	Het
Synrg	C	T	11: 83,915,131 (GRCm39)	Q1046*	probably null	Het
Tab2	T	C	10: 7,783,345 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tex24	A	T	8: 27,834,748 (GRCm39)	H92L	possibly damaging	Het
Tgm6	T	C	2: 129,993,681 (GRCm39)	V640A	probably benign	Het
Tle2	T	C	10: 81,424,781 (GRCm39)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 18,878,697 (GRCm39)	A704S	probably benign	Het
Tomm34	T	C	2: 163,912,896 (GRCm39)	N22D	probably benign	Het
Trabd2b	A	G	4: 114,437,519 (GRCm39)	Q232R	probably benign	Het
Trim62	A	G	4: 128,778,008 (GRCm39)	S16G	probably damaging	Het
Ttc28	T	A	5: 111,378,947 (GRCm39)	I1144N	probably damaging	Het
Unc5a	C	A	13: 55,151,746 (GRCm39)	N56K	possibly damaging	Het
Ush2a	C	T	1: 188,546,603 (GRCm39)		probably benign	Het
Wrn	A	G	8: 33,785,034 (GRCm39)	I446T	possibly damaging	Het
Zbed5	T	A	5: 129,931,113 (GRCm39)	V354E	possibly damaging	Het
Zfp266	G	A	9: 20,411,095 (GRCm39)	H361Y	probably damaging	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
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
R1168: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

PCR Primer
(F):5'- AAATCTCTGGTGGACGAGACACCC -3'
(R):5'- ATGCTCCTTGCGGTACAGGTTG -3'

Sequencing Primer
(F):5'- ACCCCTCGGTGAGTGTG -3'
(R):5'- ATGTGTCAGGCTCACTCG -3'

Posted On

2013-09-30