Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02374:Ppp1r3a'

291039

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 #

IGL02374

Quality Score

Status

Chromosome

Chromosomal Location

14713976-14755273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14718599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 772 (V772I)

Ref Sequence

ENSEMBL: ENSMUSP00000049054 (fasta)

Gene Model

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

AlphaFold

Q99MR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000045096
AA Change: V772I

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

SMART Domains

Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: V772I

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl5b	T	C	2: 15,073,003 (GRCm39)	Y35H	probably damaging	Het
Cnksr3	A	G	10: 7,070,335 (GRCm39)	S300P	probably damaging	Het
Col27a1	T	C	4: 63,211,486 (GRCm39)	S1013P	possibly damaging	Het
Cyp39a1	A	G	17: 44,060,872 (GRCm39)		probably benign	Het
Deptor	G	T	15: 55,044,357 (GRCm39)	L174F	probably damaging	Het
Fah	T	C	7: 84,254,909 (GRCm39)	E8G	probably benign	Het
Fastk	C	A	5: 24,649,247 (GRCm39)	A47S	possibly damaging	Het
Foxl2	C	T	9: 98,837,885 (GRCm39)	L58F	probably damaging	Het
Gm57858	T	C	3: 36,074,108 (GRCm39)	Q347R	possibly damaging	Het
Igf2bp2	G	T	16: 21,900,618 (GRCm39)	H106Q	probably benign	Het
Igkv12-47	T	C	6: 69,727,959 (GRCm39)	T71A	probably benign	Het
Ino80d	T	C	1: 63,125,220 (GRCm39)	I81V	possibly damaging	Het
Ints9	G	A	14: 65,276,782 (GRCm39)	E650K	probably benign	Het
Klc2	T	C	19: 5,160,438 (GRCm39)	N408S	possibly damaging	Het
Klhl32	A	T	4: 24,743,856 (GRCm39)		probably null	Het
Ksr1	C	T	11: 78,919,317 (GRCm39)	G504D	probably benign	Het
Lonp2	C	A	8: 87,435,673 (GRCm39)	D636E	probably damaging	Het
Lpin3	G	A	2: 160,737,758 (GRCm39)		probably benign	Het
Mcmdc2	C	T	1: 9,982,207 (GRCm39)	A56V	possibly damaging	Het
Or10al7	A	T	17: 38,366,412 (GRCm39)	V24D	probably damaging	Het
Or4p8	A	T	2: 88,727,803 (GRCm39)	I46N	probably damaging	Het
Pex1	T	C	5: 3,685,481 (GRCm39)	I1163T	probably benign	Het
Ptbp2	A	T	3: 119,514,342 (GRCm39)		probably benign	Het
Rell1	A	T	5: 64,095,151 (GRCm39)	I105K	possibly damaging	Het
Sis	A	T	3: 72,832,789 (GRCm39)	S1003T	probably benign	Het
Slc26a3	T	A	12: 31,520,832 (GRCm39)		probably benign	Het
Stap1	G	A	5: 86,244,410 (GRCm39)	G264R	probably damaging	Het
Tmem176b	T	C	6: 48,811,560 (GRCm39)	N30D	possibly damaging	Het
Tmprss15	A	T	16: 78,832,056 (GRCm39)	Y367N	probably benign	Het
Ttc41	A	G	10: 86,611,815 (GRCm39)	D1061G	probably damaging	Het
Ufl1	A	C	4: 25,259,237 (GRCm39)	D460E	probably benign	Het
Vmn2r104	T	C	17: 20,263,048 (GRCm39)	I138V	probably benign	Het
Wdfy2	T	C	14: 63,171,833 (GRCm39)	S194P	probably benign	Het
Zfp408	A	C	2: 91,476,156 (GRCm39)	C333G	probably damaging	Het
Zfp592	T	C	7: 80,674,731 (GRCm39)	V565A	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
IGL02539:Ppp1r3a	APN	6	14,718,458 (GRCm39)	missense	probably benign	0.01
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