Mutagenetix > Incidental Mutation

Incidental Mutation 'R5501:Ppp1r3a'

430603

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r3a

Ensembl Gene

ENSMUSG00000042717

Gene Name

protein phosphatase 1, regulatory subunit 3A

Synonyms

RGL, GM

MMRRC Submission

043062-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14713976-14755273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14719417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 499 (V499A)

Ref Sequence

ENSEMBL: ENSMUSP00000049054 (fasta)

Gene Model

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

AlphaFold

Q99MR9

Predicted Effect

probably benign
Transcript: ENSMUST00000045096
AA Change: V499A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: V499A

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

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.3%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	C	8: 44,022,941 (GRCm39)	L183*	probably null	Het
Alox12e	G	T	11: 70,207,055 (GRCm39)	Q584K	probably benign	Het
Atp1a4	A	G	1: 172,074,399 (GRCm39)	S285P	probably damaging	Het
Cdt1	C	T	8: 123,297,239 (GRCm39)	R311W	probably damaging	Het
Col25a1	A	G	3: 130,389,312 (GRCm39)	T632A	probably benign	Het
Coro6	T	C	11: 77,358,622 (GRCm39)	F227S	probably damaging	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dop1a	A	G	9: 86,389,783 (GRCm39)	D569G	probably benign	Het
Dync1li2	A	G	8: 105,167,104 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,064,800 (GRCm39)	V508A	probably damaging	Het
Edem1	T	C	6: 108,820,061 (GRCm39)		probably null	Het
Eef2k	A	G	7: 120,488,471 (GRCm39)	D452G	probably benign	Het
Espl1	A	G	15: 102,225,565 (GRCm39)	R1539G	possibly damaging	Het
Fat4	A	G	3: 38,941,364 (GRCm39)	S86G	probably benign	Het
Hpgd	A	T	8: 56,751,391 (GRCm39)	D73V	probably benign	Het
Ltb4r1	A	G	14: 56,005,539 (GRCm39)	N281D	probably damaging	Het
Map7	T	C	10: 20,151,948 (GRCm39)	S638P	unknown	Het
Mical1	G	A	10: 41,362,075 (GRCm39)	A934T	probably benign	Het
Micu3	C	A	8: 40,807,341 (GRCm39)		probably null	Het
Mmp24	T	A	2: 155,640,056 (GRCm39)	Y129N	probably damaging	Het
Mras	A	T	9: 99,293,599 (GRCm39)	Y14N	probably damaging	Het
Msmo1	A	T	8: 65,175,523 (GRCm39)	I169N	probably damaging	Het
Mtrr	G	T	13: 68,727,766 (GRCm39)	T60K	probably damaging	Het
Or4c113	A	T	2: 88,885,230 (GRCm39)	L180*	probably null	Het
Or5p6	G	T	7: 107,631,360 (GRCm39)	Y63*	probably null	Het
Or7g30	T	A	9: 19,352,290 (GRCm39)	I27N	possibly damaging	Het
Pam	A	T	1: 97,768,090 (GRCm39)	C8*	probably null	Het
Phrf1	T	G	7: 140,839,834 (GRCm39)	S1169A	possibly damaging	Het
Pkd1l2	T	C	8: 117,792,569 (GRCm39)	T408A	probably damaging	Het
Plch1	G	T	3: 63,615,162 (GRCm39)	Q778K	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ryr3	C	A	2: 112,492,849 (GRCm39)	S3736I	possibly damaging	Het
Serpinb13	T	C	1: 106,909,915 (GRCm39)	F11L	possibly damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Smcp	A	G	3: 92,491,731 (GRCm39)	C39R	unknown	Het
Sox9	T	A	11: 112,674,685 (GRCm39)	L161Q	probably damaging	Het
Tanc2	T	C	11: 105,805,811 (GRCm39)		probably null	Het
Tlr3	C	T	8: 45,851,851 (GRCm39)	D349N	possibly damaging	Het
Tmem131l	G	T	3: 83,833,435 (GRCm39)	N809K	probably damaging	Het
Tyk2	T	C	9: 21,032,908 (GRCm39)	Y285C	probably damaging	Het
Usp15	T	A	10: 123,011,804 (GRCm39)	N98Y	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
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
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'- AAGGACAGGGATCCACTGTCAC -3'
(R):5'- GGATGATAATGCCAACCCAGC -3'

Sequencing Primer
(F):5'- CGCCCAGGTGTTAGCTGTAATATC -3'
(R):5'- GATGATAATGCCAACCCAGCCAATG -3'

Posted On

2016-10-05