Mutagenetix > Incidental Mutation

Incidental Mutation 'R2888:Ppp1r3a'

259991

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r3a

Ensembl Gene

ENSMUSG00000042717

Gene Name

protein phosphatase 1, regulatory subunit 3A

Synonyms

RGL, GM

MMRRC Submission

040476-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14713976-14755273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 14718248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 889 (S889R)

Ref Sequence

ENSEMBL: ENSMUSP00000049054 (fasta)

Gene Model

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

AlphaFold

Q99MR9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045096
AA Change: S889R

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: S889R

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

0.0911

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	A	T	X: 77,414,288 (GRCm39)	I338F	probably damaging	Het
Acd	A	G	8: 106,425,470 (GRCm39)	S288P	probably benign	Het
Aimp2	T	C	5: 143,846,553 (GRCm39)		probably benign	Het
Atp8b2	T	C	3: 89,865,600 (GRCm39)	D100G	probably damaging	Het
Cacna1i	A	T	15: 80,258,968 (GRCm39)	I1226F	probably damaging	Het
Dsp	C	A	13: 38,376,224 (GRCm39)	N1336K	possibly damaging	Het
Extl2	T	C	3: 115,820,906 (GRCm39)	F251S	probably damaging	Het
Gusb	T	C	5: 130,029,343 (GRCm39)	H146R	probably damaging	Het
Itpr2	C	T	6: 146,072,791 (GRCm39)	G2380S	probably damaging	Het
Kansl1l	T	C	1: 66,763,764 (GRCm39)	K762E	probably benign	Het
Krtap4-9	C	A	11: 99,676,245 (GRCm39)	C55*	probably null	Het
Lamp1	T	A	8: 13,223,891 (GRCm39)	L341H	probably damaging	Het
Llcfc1	A	T	6: 41,661,537 (GRCm39)	K29M	probably damaging	Het
Malrd1	A	T	2: 16,079,568 (GRCm39)	I1762F	unknown	Het
Muc5b	G	A	7: 141,415,291 (GRCm39)	V2746M	probably damaging	Het
Mug1	T	A	6: 121,858,802 (GRCm39)	D1173E	probably benign	Het
Myo5b	G	C	18: 74,895,689 (GRCm39)	E1782Q	probably damaging	Het
Or2t46	T	C	11: 58,471,988 (GRCm39)	F106S	possibly damaging	Het
Pcdha5	A	G	18: 37,094,940 (GRCm39)	D483G	probably damaging	Het
Phex	T	C	X: 156,093,954 (GRCm39)	I439V	probably benign	Het
Pkd1l1	T	A	11: 8,897,251 (GRCm39)	S103C	probably damaging	Het
Plekha4	C	T	7: 45,187,668 (GRCm39)	R176C	probably damaging	Het
Pramel23	G	T	4: 143,423,460 (GRCm39)	T443K	probably benign	Het
Prol1	C	A	5: 88,476,168 (GRCm39)	A186E	unknown	Het
Rbm39	C	T	2: 156,009,503 (GRCm39)	R123H	probably benign	Het
Rtn4	T	C	11: 29,643,687 (GRCm39)	S167P	probably damaging	Het
Slc35a5	A	G	16: 44,971,923 (GRCm39)	C114R	probably damaging	Het
Smoc2	T	C	17: 14,617,887 (GRCm39)		probably null	Het
Sptbn2	A	G	19: 4,798,664 (GRCm39)	T1998A	possibly damaging	Het
Tbc1d5	T	A	17: 51,242,577 (GRCm39)	E173D	probably damaging	Het
Tsc2	A	G	17: 24,850,969 (GRCm39)		probably null	Het
Umps	A	T	16: 33,784,240 (GRCm39)	V71E	probably damaging	Het
Vmn2r13	T	C	5: 109,339,840 (GRCm39)	D45G	possibly damaging	Het
Wdfy4	C	A	14: 32,831,476 (GRCm39)	E917*	probably null	Het
Zfhx2	T	C	14: 55,302,260 (GRCm39)	K1908R	possibly damaging	Het
Zfp511	A	C	7: 139,619,295 (GRCm39)	D204A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGTTGGAGAATCGGACCCC -3'
(R):5'- CTTCACAGGTCATTACAGGCAATC -3'

Sequencing Primer
(F):5'- TCCACTACCTGATTTCATTATTTCTG -3'
(R):5'- GGTCATTACAGGCAATCAAAAAGC -3'

Posted On

2015-01-23