Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:Ppp1r16a'

169490

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r16a

Ensembl Gene

ENSMUSG00000033819

Gene Name

protein phosphatase 1, regulatory subunit 16A

Synonyms

2900084E10Rik, R75527, Mypt3

MMRRC Submission

039553-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1503 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

76555843-76579119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76578599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 434 (H434Q)

Ref Sequence

ENSEMBL: ENSMUSP00000155515 (fasta)

Gene Model

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

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: H434Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819
AA Change: H434Q

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
AA Change: H434Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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

noncoding transcript
Transcript: ENSMUST00000230482

Predicted Effect

probably benign
Transcript: ENSMUST00000229140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230283

Predicted Effect

probably benign
Transcript: ENSMUST00000231028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228987

Predicted Effect

probably benign
Transcript: ENSMUST00000229679

Predicted Effect

probably benign
Transcript: ENSMUST00000229734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229856

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Atf7ip	G	T	6: 136,583,865 (GRCm39)	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,610,881 (GRCm39)	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430 (GRCm39)	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,731,430 (GRCm39)	D269N	possibly damaging	Het
Btd	T	G	14: 31,389,612 (GRCm39)	C444W	probably damaging	Het
Cacna1a	A	G	8: 85,328,575 (GRCm39)	D1624G	probably benign	Het
Carmil3	A	C	14: 55,735,737 (GRCm39)	N563T	probably damaging	Het
Cars1	T	C	7: 143,122,726 (GRCm39)	R538G	probably benign	Het
Catsperd	A	G	17: 56,961,525 (GRCm39)	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,906,760 (GRCm39)	N66S	probably benign	Het
Cd48	T	A	1: 171,523,415 (GRCm39)	L86H	probably damaging	Het
Cdan1	A	T	2: 120,560,056 (GRCm39)	H369Q	probably damaging	Het
Chil4	T	C	3: 106,113,350 (GRCm39)	D189G	probably benign	Het
Cit	T	A	5: 116,011,959 (GRCm39)	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,441,526 (GRCm39)	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,923,658 (GRCm39)	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,435,523 (GRCm39)		probably null	Het
Dmxl2	A	T	9: 54,354,272 (GRCm39)	Y391*	probably null	Het
Dnah12	T	C	14: 26,495,649 (GRCm39)	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,342,867 (GRCm39)	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,159 (GRCm39)	C484S	probably benign	Het
Dsg4	A	T	18: 20,582,736 (GRCm39)	I125F	probably damaging	Het
Egfr	T	A	11: 16,819,301 (GRCm39)	M277K	possibly damaging	Het
Eml5	G	T	12: 98,797,433 (GRCm39)	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,385,705 (GRCm39)	H295N	probably benign	Het
Etl4	T	G	2: 20,748,685 (GRCm39)	V139G	possibly damaging	Het
Fhip1a	T	A	3: 85,579,784 (GRCm39)	Y807F	possibly damaging	Het
Frem3	A	T	8: 81,413,647 (GRCm39)	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,583,296 (GRCm39)	D357V	probably damaging	Het
Gimap8	T	A	6: 48,624,463 (GRCm39)		probably null	Het
Gml2	C	A	15: 74,693,201 (GRCm39)	S68*	probably null	Het
Gphn	A	G	12: 78,551,403 (GRCm39)	I248V	possibly damaging	Het
Greb1	A	T	12: 16,774,820 (GRCm39)	Y192*	probably null	Het
Hmbs	A	C	9: 44,248,729 (GRCm39)	L215W	probably benign	Het
Iglon5	T	A	7: 43,128,449 (GRCm39)	T123S	probably benign	Het
Ints2	C	T	11: 86,117,607 (GRCm39)	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842 (GRCm39)	L212Q	probably damaging	Het
Itgad	A	G	7: 127,797,293 (GRCm39)	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,307,788 (GRCm39)	T51A	probably damaging	Het
Kif9	A	T	9: 110,339,506 (GRCm39)	K449N	possibly damaging	Het
Kifbp	A	G	10: 62,395,187 (GRCm39)	V485A	probably damaging	Het
Klk1b11	G	A	7: 43,428,333 (GRCm39)	W241*	probably null	Het
Krt32	T	C	11: 99,974,936 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,200,923 (GRCm39)	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 25,123,897 (GRCm39)	S571T	probably damaging	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mtss1	T	C	15: 58,823,521 (GRCm39)	N282S	probably damaging	Het
Myh13	T	A	11: 67,244,500 (GRCm39)	D1012E	probably benign	Het
Myo16	A	G	8: 10,552,817 (GRCm39)	T952A	probably benign	Het
Neb	T	C	2: 52,188,632 (GRCm39)	D874G	probably damaging	Het
Nek11	A	G	9: 105,040,403 (GRCm39)	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,082,312 (GRCm39)	V9D	probably benign	Het
Nxf1	T	A	19: 8,739,800 (GRCm39)	F51L	probably benign	Het
Or1e1f	T	G	11: 73,855,394 (GRCm39)		probably null	Het
Or1j15	A	T	2: 36,458,885 (GRCm39)	I92F	probably damaging	Het
Or2aj5	A	G	16: 19,425,062 (GRCm39)	S119P	probably benign	Het
Or4c35	T	C	2: 89,808,872 (GRCm39)	V250A	probably damaging	Het
Or5bw2	A	G	7: 6,573,470 (GRCm39)	N160S	probably damaging	Het
Or6s1	A	G	14: 51,308,191 (GRCm39)	S220P	probably damaging	Het
Or6z6	T	C	7: 6,491,178 (GRCm39)	I232V	probably damaging	Het
Pcdhb8	A	T	18: 37,489,572 (GRCm39)	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,297,685 (GRCm39)	F217I	probably damaging	Het
Prpf19	T	A	19: 10,878,386 (GRCm39)	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,307,695 (GRCm39)	E319*	probably null	Het
Sel1l3	A	G	5: 53,295,271 (GRCm39)	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,798,019 (GRCm39)	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,998 (GRCm39)	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,764,155 (GRCm39)	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,717,973 (GRCm39)	I304N	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox17	C	A	1: 4,562,151 (GRCm39)	G222C	probably damaging	Het
Trmu	T	A	15: 85,779,220 (GRCm39)	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,887,945 (GRCm39)	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,484,857 (GRCm39)	D885E	probably benign	Het
Zfp646	A	G	7: 127,479,308 (GRCm39)	N495S	probably damaging	Het
Zfp663	T	C	2: 165,194,573 (GRCm39)	T549A	probably damaging	Het
Zfp935	G	A	13: 62,602,951 (GRCm39)	A83V	possibly 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
R0744: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
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'- ACAAGCACCTCCTGATGGCTTCTG -3'
(R):5'- GAACCCTGCCATACTGAGGAATCAC -3'

Sequencing Primer
(F):5'- GGGTTCCTGGCTCTGTTCAC -3'
(R):5'- ATTGTGCTGAAGCCACAGTC -3'

Posted On

2014-04-13