Mutagenetix > Incidental Mutation

Incidental Mutation 'R7165:Ppp1r16a'

557897

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r16a

Ensembl Gene

ENSMUSG00000033819

Gene Name

protein phosphatase 1, regulatory subunit 16A

Synonyms

2900084E10Rik, R75527, Mypt3

MMRRC Submission

045262-MU

Accession Numbers

Essential gene?

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

Stock #

R7165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76555843-76579119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76575104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 4 (H4R)

Ref Sequence

ENSEMBL: ENSMUSP00000037356 (fasta)

Gene Model

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

AlphaFold

Q923M0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037551
AA Change: H4R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819
AA Change: H4R

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 damaging
Transcript: ENSMUST00000135388
AA Change: H4R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000150399
AA Change: H4R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123458
Gene: ENSMUSG00000033819
AA Change: H4R

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: ENSMUST00000229679

Predicted Effect

probably benign
Transcript: ENSMUST00000231028

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (79/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	C	A	2: 127,965,028 (GRCm39)	A624E	probably benign	Het
Adnp	A	G	2: 168,024,287 (GRCm39)	S1003P	probably benign	Het
Akap8l	T	C	17: 32,557,386 (GRCm39)	D75G	probably damaging	Het
Ap4e1	A	T	2: 126,905,238 (GRCm39)	T970S	possibly damaging	Het
Asb3	T	A	11: 30,979,029 (GRCm39)	N106K	probably damaging	Het
Atp1a3	T	C	7: 24,678,390 (GRCm39)	I988V	probably benign	Het
Camta1	A	G	4: 151,169,157 (GRCm39)	L198S	possibly damaging	Het
Ccdc77	A	G	6: 120,327,193 (GRCm39)	L84P	probably damaging	Het
Ccne1	C	T	7: 37,798,726 (GRCm39)	A298T	probably damaging	Het
Cdc42bpb	T	A	12: 111,287,951 (GRCm39)	E532V	probably damaging	Het
Clasp2	G	A	9: 113,615,467 (GRCm39)		probably null	Het
Cntnap5b	C	A	1: 100,003,887 (GRCm39)	T289N	possibly damaging	Het
Dcun1d4	A	G	5: 73,648,538 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,532,100 (GRCm39)	T2296A	probably benign	Het
Dnaja4	A	T	9: 54,616,516 (GRCm39)	Q173L	probably damaging	Het
Dync2h1	G	A	9: 7,050,479 (GRCm39)	A3190V	probably benign	Het
Frrs1	T	A	3: 116,671,920 (GRCm39)	I6N	probably benign	Het
Fscn1	T	C	5: 142,957,801 (GRCm39)	V477A	probably benign	Het
Fsip2	G	A	2: 82,811,541 (GRCm39)	G2620E	possibly damaging	Het
Glp1r	C	T	17: 31,128,297 (GRCm39)	A92V	probably benign	Het
Gpr137b	A	T	13: 13,542,205 (GRCm39)	M204K	probably damaging	Het
Gstm1	A	G	3: 107,923,693 (GRCm39)	V104A	probably benign	Het
Gtf2e1	A	T	16: 37,356,228 (GRCm39)	N101K	probably damaging	Het
Igsf9b	T	C	9: 27,245,536 (GRCm39)	F1168L	probably benign	Het
Itpr2	A	T	6: 146,195,589 (GRCm39)	V1629E	probably damaging	Het
Kat14	A	G	2: 144,235,918 (GRCm39)	T428A	probably benign	Het
Kif21b	T	C	1: 136,077,186 (GRCm39)	Y403H	probably damaging	Het
Lpcat1	G	C	13: 73,662,649 (GRCm39)	A533P	probably benign	Het
Lrp2	A	T	2: 69,336,917 (GRCm39)	I1285N	probably damaging	Het
Mboat1	A	T	13: 30,408,398 (GRCm39)	Y187F	probably damaging	Het
Mkx	T	C	18: 7,002,525 (GRCm39)	N7S	probably damaging	Het
Mrps27	A	T	13: 99,551,307 (GRCm39)	T357S	possibly damaging	Het
Muc21	A	G	17: 35,932,870 (GRCm39)	S439P	unknown	Het
Naa35	A	G	13: 59,733,997 (GRCm39)	D9G	probably benign	Het
Ncoa4	T	A	14: 31,897,940 (GRCm39)	N253K	probably damaging	Het
Neb	A	G	2: 52,160,318 (GRCm39)	Y2232H	probably damaging	Het
Nlk	G	A	11: 78,481,793 (GRCm39)	Q223*	probably null	Het
Npas2	T	A	1: 39,331,798 (GRCm39)	I71N	possibly damaging	Het
Nup107	T	A	10: 117,609,267 (GRCm39)	Q364L	probably damaging	Het
Or8g17	T	A	9: 38,934,566 (GRCm39)		probably benign	Het
Otof	C	T	5: 30,532,964 (GRCm39)	G1593S	probably damaging	Het
Panx3	G	T	9: 37,575,381 (GRCm39)	H160Q	probably damaging	Het
Pappa	T	A	4: 65,180,110 (GRCm39)	H990Q	probably damaging	Het
Pax4	G	A	6: 28,446,136 (GRCm39)	P119L	probably damaging	Het
Pcdhb20	T	A	18: 37,638,123 (GRCm39)	D216E	probably damaging	Het
Pcdhgb8	T	A	18: 37,896,231 (GRCm39)	S434T	possibly damaging	Het
Pf4	T	C	5: 90,920,448 (GRCm39)	V3A	probably benign	Het
Phf24	T	C	4: 42,938,325 (GRCm39)	S229P	probably benign	Het
Plcd3	A	G	11: 102,970,439 (GRCm39)	F200S	probably damaging	Het
Pramel15	A	G	4: 144,099,389 (GRCm39)	C459R	probably damaging	Het
Prdm10	A	G	9: 31,227,738 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,667,474 (GRCm39)		probably null	Het
Prkg1	T	A	19: 30,562,599 (GRCm39)	H550L	probably damaging	Het
Prrc2c	G	T	1: 162,501,086 (GRCm39)	T2809N	possibly damaging	Het
Ptx3	A	G	3: 66,132,391 (GRCm39)	E304G	probably benign	Het
Ralgps2	A	G	1: 156,655,818 (GRCm39)	F369L	probably benign	Het
Rasgrp1	G	A	2: 117,168,885 (GRCm39)	T31I	probably benign	Het
Rbsn	A	T	6: 92,168,315 (GRCm39)	M373K	probably benign	Het
Rnf168	C	G	16: 32,101,179 (GRCm39)	R120G	probably benign	Het
Rp1	A	G	1: 4,420,140 (GRCm39)	I324T	probably damaging	Het
Samd11	T	C	4: 156,336,747 (GRCm39)	S31G	probably benign	Het
Sart3	A	T	5: 113,884,056 (GRCm39)	L652Q	probably benign	Het
Scrn2	A	G	11: 96,924,634 (GRCm39)	E421G	probably benign	Het
Sik2	A	T	9: 50,828,397 (GRCm39)	L215Q	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,534,639 (GRCm39)	K3632M	probably damaging	Het
Swt1	A	T	1: 151,264,428 (GRCm39)	D695E	probably damaging	Het
Tead3	T	A	17: 28,552,228 (GRCm39)	M357L	probably benign	Het
Tgfbi	A	T	13: 56,775,829 (GRCm39)	T292S	probably damaging	Het
Tmc7	T	C	7: 118,155,157 (GRCm39)	H247R	probably benign	Het
Trmt10b	T	A	4: 45,308,549 (GRCm39)	D236E	probably damaging	Het
Tshz1	C	A	18: 84,034,052 (GRCm39)	V119L	probably damaging	Het
Ttn	A	C	2: 76,658,258 (GRCm39)	V12374G	unknown	Het
Tubgcp2	A	G	7: 139,585,274 (GRCm39)	Y484H	probably damaging	Het
Ubr4	G	C	4: 139,177,824 (GRCm39)	A1947P		Het
Uggt1	A	C	1: 36,194,188 (GRCm39)	V1350G	probably benign	Het
Vmn1r173	A	T	7: 23,402,076 (GRCm39)	M104L	probably benign	Het
Xirp1	A	T	9: 119,848,113 (GRCm39)	C257S	probably damaging	Het
Zfyve26	A	G	12: 79,327,179 (GRCm39)	S724P	probably damaging	Het
Zmpste24	A	T	4: 120,940,091 (GRCm39)	L185Q	probably null	Het
Zpld1	G	A	16: 55,052,594 (GRCm39)	A340V	probably benign	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
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
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'- CTTGAGGTGTCTGTCCTACCTG -3'
(R):5'- GAAGAGGACATGCTTCCGAG -3'

Sequencing Primer
(F):5'- TGTCTGTCCTACCTGGGGAAC -3'
(R):5'- ACATGCTTCCGAGGCCTGAG -3'

Posted On

2019-06-26