Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02539:Ppp1r3a'

297636

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1r3a

Ensembl Gene

ENSMUSG00000042717

Gene Name

protein phosphatase 1, regulatory subunit 3A

Synonyms

RGL, GM

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02539

Quality Score

Status

Chromosome

Chromosomal Location

14713976-14755273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14718458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 819 (V819I)

Ref Sequence

ENSEMBL: ENSMUSP00000049054 (fasta)

Gene Model

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

AlphaFold

Q99MR9

Predicted Effect

probably benign
Transcript: ENSMUST00000045096
AA Change: V819I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: V819I

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

Coding Region Coverage

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,229 (GRCm39)	Y479*	probably null	Het
Btnl6	T	C	17: 34,727,288 (GRCm39)	N414S	probably benign	Het
Ccdc180	A	G	4: 45,921,005 (GRCm39)	N984D	probably damaging	Het
Cfc1	A	T	1: 34,576,203 (GRCm39)		probably benign	Het
Chrm1	G	A	19: 8,655,675 (GRCm39)	V127M	probably damaging	Het
Dicer1	A	G	12: 104,663,294 (GRCm39)	L1429P	probably damaging	Het
Erbb3	A	G	10: 128,420,174 (GRCm39)		probably null	Het
Evi5	T	C	5: 107,963,531 (GRCm39)	E348G	probably benign	Het
Fat2	G	A	11: 55,172,619 (GRCm39)	T2698I	probably damaging	Het
Gas2	A	G	7: 51,547,038 (GRCm39)	D63G	possibly damaging	Het
Gm28042	A	G	2: 119,865,702 (GRCm39)	D313G	probably damaging	Het
Hivep2	T	A	10: 14,007,622 (GRCm39)	S1407T	probably damaging	Het
Ibsp	T	A	5: 104,450,149 (GRCm39)	M19K	probably damaging	Het
Itih3	C	T	14: 30,634,621 (GRCm39)	D129N	probably benign	Het
Krtap4-8	A	T	11: 99,671,196 (GRCm39)		probably benign	Het
Mertk	A	G	2: 128,643,210 (GRCm39)	T870A	probably damaging	Het
Mtmr11	C	A	3: 96,072,308 (GRCm39)		probably benign	Het
Nbas	C	A	12: 13,322,704 (GRCm39)		probably benign	Het
Nlrp4b	A	G	7: 10,448,355 (GRCm39)	D186G	probably damaging	Het
Olfm3	A	G	3: 114,895,579 (GRCm39)	I154V	possibly damaging	Het
Or10a5	T	A	7: 106,635,641 (GRCm39)	I93N	probably damaging	Het
Pdk2	T	C	11: 94,923,321 (GRCm39)	K101R	probably benign	Het
Pds5a	C	T	5: 65,823,462 (GRCm39)	D110N	probably damaging	Het
Pex5	A	T	6: 124,380,183 (GRCm39)	D288E	probably benign	Het
Pitrm1	A	G	13: 6,618,792 (GRCm39)	D655G	probably benign	Het
Plcz1	T	C	6: 139,938,690 (GRCm39)	N554S	probably benign	Het
Plin4	T	C	17: 56,413,680 (GRCm39)	Q315R	probably damaging	Het
Plpp5	A	G	8: 26,214,215 (GRCm39)	H244R	probably benign	Het
Rap1b	T	A	10: 117,658,709 (GRCm39)	R41S	possibly damaging	Het
Rc3h2	T	A	2: 37,279,727 (GRCm39)	S501C	probably benign	Het
Sel1l2	G	T	2: 140,072,778 (GRCm39)	A619D	probably damaging	Het
Ska3	T	C	14: 58,057,968 (GRCm39)	D128G	possibly damaging	Het
Specc1l	A	T	10: 75,103,342 (GRCm39)	I889L	probably benign	Het
Ssxb5	T	A	X: 8,675,087 (GRCm39)	N130K	probably damaging	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tet1	T	C	10: 62,648,798 (GRCm39)	Q267R	possibly damaging	Het
Tlr8	T	A	X: 166,027,152 (GRCm39)	H566L	possibly damaging	Het
Tmem132d	T	A	5: 127,861,043 (GRCm39)	Q1026L	probably benign	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Trp53bp2	C	A	1: 182,276,256 (GRCm39)	P746T	probably damaging	Het
Uso1	A	T	5: 92,335,632 (GRCm39)	I547F	probably damaging	Het
Zfp687	A	C	3: 94,918,373 (GRCm39)	N466K	probably damaging	Het

Other mutations in Ppp1r3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Ppp1r3a	APN	6	14,755,083 (GRCm39)	missense	probably damaging	1.00
IGL00670:Ppp1r3a	APN	6	14,719,059 (GRCm39)	missense	probably benign	0.22
IGL00703:Ppp1r3a	APN	6	14,718,407 (GRCm39)	missense	probably benign	0.02
IGL00726:Ppp1r3a	APN	6	14,717,851 (GRCm39)	missense	probably benign	0.42
IGL00742:Ppp1r3a	APN	6	14,718,608 (GRCm39)	missense	probably benign	0.36
IGL01477:Ppp1r3a	APN	6	14,718,345 (GRCm39)	missense	probably damaging	0.99
IGL01632:Ppp1r3a	APN	6	14,754,810 (GRCm39)	missense	probably damaging	1.00
IGL02162:Ppp1r3a	APN	6	14,717,714 (GRCm39)	missense	probably damaging	1.00
IGL02374:Ppp1r3a	APN	6	14,718,599 (GRCm39)	missense	probably damaging	1.00
IGL02563:Ppp1r3a	APN	6	14,719,761 (GRCm39)	missense	probably benign	0.20
IGL02929:Ppp1r3a	APN	6	14,719,810 (GRCm39)	missense	probably benign	0.00
IGL03110:Ppp1r3a	APN	6	14,722,064 (GRCm39)	splice site	probably benign
IGL03290:Ppp1r3a	APN	6	14,754,771 (GRCm39)	missense	probably damaging	1.00
IGL03326:Ppp1r3a	APN	6	14,719,765 (GRCm39)	missense	probably damaging	0.96
P0041:Ppp1r3a	UTSW	6	14,719,696 (GRCm39)	missense	probably benign	0.00
PIT4445001:Ppp1r3a	UTSW	6	14,717,776 (GRCm39)	missense	probably damaging	1.00
R0015:Ppp1r3a	UTSW	6	14,717,660 (GRCm39)	missense	possibly damaging	0.58
R0077:Ppp1r3a	UTSW	6	14,754,516 (GRCm39)	missense	possibly damaging	0.64
R0368:Ppp1r3a	UTSW	6	14,718,959 (GRCm39)	missense	probably benign	0.26
R0391:Ppp1r3a	UTSW	6	14,719,696 (GRCm39)	missense	probably benign	0.43
R1793:Ppp1r3a	UTSW	6	14,754,717 (GRCm39)	missense	probably damaging	1.00
R1797:Ppp1r3a	UTSW	6	14,717,981 (GRCm39)	missense	probably benign	0.02
R1855:Ppp1r3a	UTSW	6	14,754,993 (GRCm39)	missense	probably damaging	1.00
R1864:Ppp1r3a	UTSW	6	14,718,404 (GRCm39)	missense	probably damaging	1.00
R1865:Ppp1r3a	UTSW	6	14,718,404 (GRCm39)	missense	probably damaging	1.00
R2046:Ppp1r3a	UTSW	6	14,722,103 (GRCm39)	missense	probably benign	0.12
R2122:Ppp1r3a	UTSW	6	14,721,874 (GRCm39)	missense	possibly damaging	0.95
R2437:Ppp1r3a	UTSW	6	14,718,322 (GRCm39)	missense	probably benign	0.03
R2518:Ppp1r3a	UTSW	6	14,719,377 (GRCm39)	missense	possibly damaging	0.95
R2887:Ppp1r3a	UTSW	6	14,718,248 (GRCm39)	missense	possibly damaging	0.89
R2888:Ppp1r3a	UTSW	6	14,718,248 (GRCm39)	missense	possibly damaging	0.89
R2889:Ppp1r3a	UTSW	6	14,718,248 (GRCm39)	missense	possibly damaging	0.89
R3419:Ppp1r3a	UTSW	6	14,719,413 (GRCm39)	missense	probably benign	0.01
R3886:Ppp1r3a	UTSW	6	14,719,911 (GRCm39)	missense	possibly damaging	0.87
R3937:Ppp1r3a	UTSW	6	14,719,073 (GRCm39)	missense	probably damaging	0.99
R3938:Ppp1r3a	UTSW	6	14,719,073 (GRCm39)	missense	probably damaging	0.99
R4246:Ppp1r3a	UTSW	6	14,719,780 (GRCm39)	missense	probably damaging	1.00
R4561:Ppp1r3a	UTSW	6	14,754,681 (GRCm39)	missense	probably damaging	1.00
R4701:Ppp1r3a	UTSW	6	14,718,992 (GRCm39)	missense	probably benign	0.00
R4853:Ppp1r3a	UTSW	6	14,719,046 (GRCm39)	missense	probably benign	0.03
R5076:Ppp1r3a	UTSW	6	14,754,680 (GRCm39)	missense	probably damaging	1.00
R5085:Ppp1r3a	UTSW	6	14,719,603 (GRCm39)	missense	probably damaging	1.00
R5501:Ppp1r3a	UTSW	6	14,719,417 (GRCm39)	missense	probably benign	0.02
R5725:Ppp1r3a	UTSW	6	14,719,348 (GRCm39)	missense	probably benign	0.04
R5729:Ppp1r3a	UTSW	6	14,719,762 (GRCm39)	missense	probably benign	0.06
R5741:Ppp1r3a	UTSW	6	14,719,882 (GRCm39)	missense	probably damaging	0.97
R5841:Ppp1r3a	UTSW	6	14,718,983 (GRCm39)	missense	probably benign	0.26
R5914:Ppp1r3a	UTSW	6	14,718,988 (GRCm39)	missense	probably benign	0.09
R6091:Ppp1r3a	UTSW	6	14,719,339 (GRCm39)	missense	probably benign	0.02
R6154:Ppp1r3a	UTSW	6	14,754,603 (GRCm39)	missense	possibly damaging	0.88
R6218:Ppp1r3a	UTSW	6	14,718,430 (GRCm39)	missense	probably damaging	0.99
R6813:Ppp1r3a	UTSW	6	14,719,570 (GRCm39)	missense	probably benign	0.13
R6826:Ppp1r3a	UTSW	6	14,718,980 (GRCm39)	nonsense	probably null
R6869:Ppp1r3a	UTSW	6	14,754,825 (GRCm39)	missense	probably benign	0.39
R7109:Ppp1r3a	UTSW	6	14,719,235 (GRCm39)	missense	probably benign	0.00
R7188:Ppp1r3a	UTSW	6	14,719,190 (GRCm39)	missense	probably benign	0.00
R7262:Ppp1r3a	UTSW	6	14,719,069 (GRCm39)	missense	probably benign	0.04
R7341:Ppp1r3a	UTSW	6	14,718,749 (GRCm39)	missense	probably damaging	0.97
R7770:Ppp1r3a	UTSW	6	14,754,977 (GRCm39)	missense	probably benign	0.06
R7856:Ppp1r3a	UTSW	6	14,718,025 (GRCm39)	missense	probably benign	0.01
R8309:Ppp1r3a	UTSW	6	14,719,700 (GRCm39)	missense	probably benign	0.02
R8422:Ppp1r3a	UTSW	6	14,718,434 (GRCm39)	nonsense	probably null
R8868:Ppp1r3a	UTSW	6	14,755,014 (GRCm39)	missense	probably damaging	1.00
R9039:Ppp1r3a	UTSW	6	14,754,525 (GRCm39)	missense	probably damaging	1.00
R9149:Ppp1r3a	UTSW	6	14,722,098 (GRCm39)	missense	probably benign	0.32
R9302:Ppp1r3a	UTSW	6	14,721,891 (GRCm39)	missense	probably benign	0.00
R9399:Ppp1r3a	UTSW	6	14,755,010 (GRCm39)	missense	probably damaging	0.99
R9565:Ppp1r3a	UTSW	6	14,719,466 (GRCm39)	missense	probably benign	0.02
R9730:Ppp1r3a	UTSW	6	14,721,923 (GRCm39)	missense	probably benign	0.25
R9767:Ppp1r3a	UTSW	6	14,718,101 (GRCm39)	missense	probably benign	0.03
R9782:Ppp1r3a	UTSW	6	14,718,766 (GRCm39)	missense	probably damaging	1.00
Z1177:Ppp1r3a	UTSW	6	14,755,150 (GRCm39)	missense	possibly damaging	0.58

Posted On

2015-04-16