Mutagenetix > Incidental Mutation

Incidental Mutation 'R5076:Ppp1r3a'

395763

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r3a

Ensembl Gene

ENSMUSG00000042717

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 3A

Synonyms

RGL, GM

MMRRC Submission

042665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5076 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14713977-14755274 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14754681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 189 (F189S)

Ref Sequence

ENSEMBL: ENSMUSP00000049054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045096]

AlphaFold

Q99MR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000045096
AA Change: F189S

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

SMART Domains

Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: F189S

Domain	Start	End	E-Value	Type
low complexity region	37	51	N/A	INTRINSIC
Pfam:CBM_21	124	231	2.3e-32	PFAM
low complexity region	370	381	N/A	INTRINSIC
low complexity region	636	646	N/A	INTRINSIC
low complexity region	952	961	N/A	INTRINSIC
transmembrane domain	1055	1077	N/A	INTRINSIC

Meta Mutation Damage Score

0.8727

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.0%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have reduced levels of skeletal muscle glycogen. Whereas one model was normoglycemic and grossly normal, another on a similar genetic background was glucose intolerant, insulin resistant, and gained weight to the point of obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 90,056,252	I72V	probably benign	Het
Aadacl3	G	A	4: 144,456,070	P276L	possibly damaging	Het
Acp6	T	A	3: 97,167,989	S180T	probably benign	Het
Adgrd1	A	T	5: 129,143,989	R449*	probably null	Het
Ak1	T	C	2: 32,633,448	V176A	probably damaging	Het
Capzb	A	T	4: 139,287,814	D226V	possibly damaging	Het
Cd34	A	T	1: 194,948,030		probably benign	Het
Cdh15	C	A	8: 122,864,348	D445E	possibly damaging	Het
Chil4	A	G	3: 106,202,597	F367L	probably damaging	Het
Clstn2	T	C	9: 97,483,079	Y458C	probably damaging	Het
Ctsw	T	C	19: 5,468,458	Y9C	probably benign	Het
Dhrs7	T	C	12: 72,659,481	D50G	probably benign	Het
Dnah14	A	G	1: 181,757,234	K3177E	probably benign	Het
Ehd1	T	C	19: 6,277,221	F83L	probably benign	Het
Eif5a2	G	A	3: 28,782,737	V59I	possibly damaging	Het
Emilin3	T	A	2: 160,909,318		probably null	Het
Entpd8	A	G	2: 25,085,054	S426G	possibly damaging	Het
Epb41l4b	C	T	4: 57,040,984	G493D	probably damaging	Het
Fam208b	C	T	13: 3,576,357	V1198I	probably benign	Het
Gm11596	C	T	11: 99,792,872	G141R	unknown	Het
Gm1840	T	G	8: 5,640,130		noncoding transcript	Het
H2-Q4	T	C	17: 35,380,441	Y167H	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Itpr1	A	G	6: 108,405,529		probably null	Het
Kif2c	A	T	4: 117,174,869		probably benign	Het
Klrb1-ps1	C	T	6: 129,119,788		noncoding transcript	Het
Krtap9-5	A	T	11: 99,949,468	T332S	unknown	Het
Lrrc39	A	T	3: 116,579,540	E283V	probably benign	Het
Mdga1	A	G	17: 29,850,554	S447P	possibly damaging	Het
Mindy1	G	A	3: 95,295,399	V425M	probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mrps5	T	A	2: 127,600,852	Y280*	probably null	Het
Muc3a	T	A	5: 137,210,540	T159S	probably damaging	Het
Olfr1252	T	A	2: 89,721,401	T237S	probably damaging	Het
Olfr1310	A	T	2: 112,008,592	M198K	probably damaging	Het
Olfr286	T	A	15: 98,226,761	I295F	probably damaging	Het
Pcdhga4	G	A	18: 37,685,595	V66I	probably benign	Het
Pdhx	T	C	2: 103,041,077	T203A	probably damaging	Het
Pdss1	A	G	2: 22,899,917		probably null	Het
Pdxk	G	T	10: 78,450,307	Q103K	probably benign	Het
Peg3	A	G	7: 6,708,420	C1268R	probably damaging	Het
Pitpnc1	A	T	11: 107,296,267	S77T	probably damaging	Het
Pnisr	T	A	4: 21,874,990		probably benign	Het
Poc1b	C	T	10: 99,107,841	T22I	probably damaging	Het
Ppfia1	G	A	7: 144,506,264	R604W	probably damaging	Het
Rbks	T	A	5: 31,650,451	Y99*	probably null	Het
Rsg1	A	G	4: 141,217,385	I82M	probably benign	Het
Sh3rf2	G	T	18: 42,053,924	C36F	probably damaging	Het
Spock3	T	A	8: 63,345,855	N303K	probably damaging	Het
Tcaf2	T	C	6: 42,629,467	T518A	probably benign	Het
Tmem163	A	T	1: 127,500,276	V191D	probably damaging	Het
Trappc6b	A	G	12: 59,050,308	V76A	probably damaging	Het
Ube2nl	A	G	7: 61,549,532		noncoding transcript	Het
Unc5d	C	T	8: 28,694,676	V599M	possibly damaging	Het
Vmn1r184	A	T	7: 26,266,921	M31L	probably benign	Het
Vrtn	C	A	12: 84,649,474	Q333K	probably damaging	Het
Zfp788	T	A	7: 41,648,584	F163I	possibly damaging	Het
Zfyve1	C	T	12: 83,555,647	R458H	probably damaging	Het

Other mutations in Ppp1r3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Ppp1r3a	APN	6	14755084	missense	probably damaging	1.00
IGL00670:Ppp1r3a	APN	6	14719060	missense	probably benign	0.22
IGL00703:Ppp1r3a	APN	6	14718408	missense	probably benign	0.02
IGL00726:Ppp1r3a	APN	6	14717852	missense	probably benign	0.42
IGL00742:Ppp1r3a	APN	6	14718609	missense	probably benign	0.36
IGL01477:Ppp1r3a	APN	6	14718346	missense	probably damaging	0.99
IGL01632:Ppp1r3a	APN	6	14754811	missense	probably damaging	1.00
IGL02162:Ppp1r3a	APN	6	14717715	missense	probably damaging	1.00
IGL02374:Ppp1r3a	APN	6	14718600	missense	probably damaging	1.00
IGL02539:Ppp1r3a	APN	6	14718459	missense	probably benign	0.01
IGL02563:Ppp1r3a	APN	6	14719762	missense	probably benign	0.20
IGL02929:Ppp1r3a	APN	6	14719811	missense	probably benign	0.00
IGL03110:Ppp1r3a	APN	6	14722065	splice site	probably benign
IGL03290:Ppp1r3a	APN	6	14754772	missense	probably damaging	1.00
IGL03326:Ppp1r3a	APN	6	14719766	missense	probably damaging	0.96
P0041:Ppp1r3a	UTSW	6	14719697	missense	probably benign	0.00
PIT4445001:Ppp1r3a	UTSW	6	14717777	missense	probably damaging	1.00
R0015:Ppp1r3a	UTSW	6	14717661	missense	possibly damaging	0.58
R0077:Ppp1r3a	UTSW	6	14754517	missense	possibly damaging	0.64
R0368:Ppp1r3a	UTSW	6	14718960	missense	probably benign	0.26
R0391:Ppp1r3a	UTSW	6	14719697	missense	probably benign	0.43
R1793:Ppp1r3a	UTSW	6	14754718	missense	probably damaging	1.00
R1797:Ppp1r3a	UTSW	6	14717982	missense	probably benign	0.02
R1855:Ppp1r3a	UTSW	6	14754994	missense	probably damaging	1.00
R1864:Ppp1r3a	UTSW	6	14718405	missense	probably damaging	1.00
R1865:Ppp1r3a	UTSW	6	14718405	missense	probably damaging	1.00
R2046:Ppp1r3a	UTSW	6	14722104	missense	probably benign	0.12
R2122:Ppp1r3a	UTSW	6	14721875	missense	possibly damaging	0.95
R2437:Ppp1r3a	UTSW	6	14718323	missense	probably benign	0.03
R2518:Ppp1r3a	UTSW	6	14719378	missense	possibly damaging	0.95
R2887:Ppp1r3a	UTSW	6	14718249	missense	possibly damaging	0.89
R2888:Ppp1r3a	UTSW	6	14718249	missense	possibly damaging	0.89
R2889:Ppp1r3a	UTSW	6	14718249	missense	possibly damaging	0.89
R3419:Ppp1r3a	UTSW	6	14719414	missense	probably benign	0.01
R3886:Ppp1r3a	UTSW	6	14719912	missense	possibly damaging	0.87
R3937:Ppp1r3a	UTSW	6	14719074	missense	probably damaging	0.99
R3938:Ppp1r3a	UTSW	6	14719074	missense	probably damaging	0.99
R4246:Ppp1r3a	UTSW	6	14719781	missense	probably damaging	1.00
R4561:Ppp1r3a	UTSW	6	14754682	missense	probably damaging	1.00
R4701:Ppp1r3a	UTSW	6	14718993	missense	probably benign	0.00
R4853:Ppp1r3a	UTSW	6	14719047	missense	probably benign	0.03
R5085:Ppp1r3a	UTSW	6	14719604	missense	probably damaging	1.00
R5501:Ppp1r3a	UTSW	6	14719418	missense	probably benign	0.02
R5725:Ppp1r3a	UTSW	6	14719349	missense	probably benign	0.04
R5729:Ppp1r3a	UTSW	6	14719763	missense	probably benign	0.06
R5741:Ppp1r3a	UTSW	6	14719883	missense	probably damaging	0.97
R5841:Ppp1r3a	UTSW	6	14718984	missense	probably benign	0.26
R5914:Ppp1r3a	UTSW	6	14718989	missense	probably benign	0.09
R6091:Ppp1r3a	UTSW	6	14719340	missense	probably benign	0.02
R6154:Ppp1r3a	UTSW	6	14754604	missense	possibly damaging	0.88
R6218:Ppp1r3a	UTSW	6	14718431	missense	probably damaging	0.99
R6813:Ppp1r3a	UTSW	6	14719571	missense	probably benign	0.13
R6826:Ppp1r3a	UTSW	6	14718981	nonsense	probably null
R6869:Ppp1r3a	UTSW	6	14754826	missense	probably benign	0.39
R7109:Ppp1r3a	UTSW	6	14719236	missense	probably benign	0.00
R7188:Ppp1r3a	UTSW	6	14719191	missense	probably benign	0.00
R7262:Ppp1r3a	UTSW	6	14719070	missense	probably benign	0.04
R7341:Ppp1r3a	UTSW	6	14718750	missense	probably damaging	0.97
R7770:Ppp1r3a	UTSW	6	14754978	missense	probably benign	0.06
R7856:Ppp1r3a	UTSW	6	14718026	missense	probably benign	0.01
R8309:Ppp1r3a	UTSW	6	14719701	missense	probably benign	0.02
R8422:Ppp1r3a	UTSW	6	14718435	nonsense	probably null
R8868:Ppp1r3a	UTSW	6	14755015	missense	probably damaging	1.00
R9039:Ppp1r3a	UTSW	6	14754526	missense	probably damaging	1.00
R9149:Ppp1r3a	UTSW	6	14722099	missense	probably benign	0.32
R9302:Ppp1r3a	UTSW	6	14721892	missense	probably benign	0.00
R9399:Ppp1r3a	UTSW	6	14755011	missense	probably damaging	0.99
R9565:Ppp1r3a	UTSW	6	14719467	missense	probably benign	0.02
R9730:Ppp1r3a	UTSW	6	14721924	missense	probably benign	0.25
R9767:Ppp1r3a	UTSW	6	14718102	missense	probably benign	0.03
R9782:Ppp1r3a	UTSW	6	14718767	missense	probably damaging	1.00
Z1177:Ppp1r3a	UTSW	6	14755151	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- CCAATGGCTTTACAGGCTCTG -3'
(R):5'- GACTTGCCTTCTTCAAAAGAAAAGC -3'

Sequencing Primer
(F):5'- GCTTTACAGGCTCTGGCTCC -3'
(R):5'- CAAGTCCAGAAAGCCGTGCTG -3'

Posted On

2016-06-21