Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00742:Ppp1r3a'

13131

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 #

IGL00742

Quality Score

Status

Chromosome

Chromosomal Location

14713976-14755273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14718608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 769 (T769A)

Ref Sequence

ENSEMBL: ENSMUSP00000049054 (fasta)

Gene Model

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

AlphaFold

Q99MR9

Predicted Effect

probably benign
Transcript: ENSMUST00000045096
AA Change: T769A

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: T769A

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	G	T	15: 76,473,300 (GRCm39)	A50S	possibly damaging	Het
Adgrg2	C	T	X: 159,271,715 (GRCm39)	T778M	probably damaging	Het
Aimp1	G	A	3: 132,377,742 (GRCm39)	Q208*	probably null	Het
Auh	T	C	13: 52,992,138 (GRCm39)	E210G	probably damaging	Het
Cdh20	T	G	1: 109,993,356 (GRCm39)	N270K	probably benign	Het
Chrna9	A	G	5: 66,128,458 (GRCm39)	E218G	probably benign	Het
Cntn5	G	T	9: 9,976,302 (GRCm39)	T214K	probably damaging	Het
Col11a1	A	T	3: 113,917,964 (GRCm39)	D766V	unknown	Het
Ddb1	A	G	19: 10,588,124 (GRCm39)	N203S	probably benign	Het
Eefsec	A	T	6: 88,353,261 (GRCm39)	L136Q	possibly damaging	Het
Hdac6	T	C	X: 7,797,568 (GRCm39)	D1019G	probably benign	Het
Ift88	T	A	14: 57,718,843 (GRCm39)		probably benign	Het
Igf1r	T	A	7: 67,839,771 (GRCm39)	C693S	probably benign	Het
Il18r1	T	A	1: 40,520,151 (GRCm39)	S181T	probably benign	Het
Krt35	T	C	11: 99,984,785 (GRCm39)	Q291R	probably damaging	Het
Krt81	G	A	15: 101,358,159 (GRCm39)	R365C	probably benign	Het
Lpgat1	A	G	1: 191,492,321 (GRCm39)	E269G	probably benign	Het
Lpin3	A	G	2: 160,735,918 (GRCm39)	D66G	probably damaging	Het
Map9	T	C	3: 82,270,727 (GRCm39)	V97A	probably benign	Het
Mcm3ap	A	G	10: 76,328,769 (GRCm39)	E1129G	probably damaging	Het
Mmrn1	A	T	6: 60,935,104 (GRCm39)	H200L	probably damaging	Het
Mycbp2	A	G	14: 103,438,788 (GRCm39)	L2031S	probably damaging	Het
Nfatc1	C	T	18: 80,741,229 (GRCm39)	R243H	probably benign	Het
Omg	T	A	11: 79,394,739 (GRCm39)		probably benign	Het
Or51ah3	A	T	7: 103,210,563 (GRCm39)	Y293F	probably damaging	Het
Postn	T	A	3: 54,280,315 (GRCm39)	N413K	possibly damaging	Het
Pvr	G	A	7: 19,648,784 (GRCm39)	P244S	probably damaging	Het
Rabl6	T	C	2: 25,478,699 (GRCm39)	E244G	probably damaging	Het
Satb2	A	T	1: 56,870,700 (GRCm39)	N428K	possibly damaging	Het
Svopl	A	G	6: 38,007,952 (GRCm39)		probably null	Het
Synpo2	G	T	3: 122,907,525 (GRCm39)	P597Q	probably damaging	Het
Tacc3	T	A	5: 33,818,578 (GRCm39)	H4Q	possibly damaging	Het
Ugt2b5	C	T	5: 87,275,673 (GRCm39)	G393S	probably damaging	Het
Vmn2r5	A	G	3: 64,398,834 (GRCm39)	I715T	possibly 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
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
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

2012-12-06