Mutagenetix > Incidental Mutation

Incidental Mutation 'R3938:Ppp1r3a'

307268

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r3a

Ensembl Gene

ENSMUSG00000042717

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 3A

Synonyms

RGL, GM

MMRRC Submission

040825-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14713977-14755274 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14719074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 614 (S614T)

Ref Sequence

ENSEMBL: ENSMUSP00000049054 (fasta)

Gene Model

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

AlphaFold

Q99MR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000045096
AA Change: S614T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049054
Gene: ENSMUSG00000042717
AA Change: S614T

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

0.1429

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	C	T	7: 28,154,294	P1561L	probably damaging	Het
Adamts1	C	T	16: 85,795,619	V634M	possibly damaging	Het
Arid4b	A	T	13: 14,186,928	N659I	probably benign	Het
BC049715	T	C	6: 136,840,455	I231T	possibly damaging	Het
Bmp4	T	C	14: 46,384,079	Y336C	probably damaging	Het
Ccdc30	G	A	4: 119,352,673	T293I	probably benign	Het
Chd5	A	T	4: 152,377,055	T1275S	probably benign	Het
Chtf8	A	T	8: 106,885,905	M134K	probably benign	Het
Col11a2	A	T	17: 34,039,625		probably benign	Het
Cyp8b1	A	G	9: 121,915,618	V216A	probably benign	Het
Dnah8	C	T	17: 30,854,937	T4527M	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Erap1	T	A	13: 74,668,028	L92Q	probably damaging	Het
Exoc3l	G	T	8: 105,293,405	P296H	probably damaging	Het
Gm5294	A	T	5: 138,820,968	N78Y	probably damaging	Het
Hacl1	T	C	14: 31,634,191		probably benign	Het
Hrnr	T	A	3: 93,322,855	N133K	probably benign	Het
Itgax	G	T	7: 128,136,273	R504S	possibly damaging	Het
Itgb4	A	G	11: 116,005,926	S1461G	possibly damaging	Het
Klkb1	G	T	8: 45,282,801	T175K	probably damaging	Het
Lrrk2	A	T	15: 91,712,780	D525V	possibly damaging	Het
Lrrk2	C	A	15: 91,778,504	T1912K	probably damaging	Het
Mdga1	G	T	17: 29,857,622	Q59K	probably damaging	Het
Mpp4	A	G	1: 59,124,683	V466A	possibly damaging	Het
Myh6	T	C	14: 54,963,055	D203G	probably benign	Het
Myo5b	T	C	18: 74,716,037	S1116P	probably damaging	Het
Nemp1	T	C	10: 127,695,473	L311P	probably damaging	Het
Nup205	A	G	6: 35,219,742	R1138G	probably damaging	Het
Nup54	A	G	5: 92,417,529	M443T	probably damaging	Het
Peak1	T	C	9: 56,260,365	E93G	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plekhj1	A	G	10: 80,797,775	I76T	probably damaging	Het
Poll	A	G	19: 45,558,418		probably benign	Het
Pygm	A	T	19: 6,392,950	I556F	probably benign	Het
Ranbp2	T	C	10: 58,476,472	F1005L	probably benign	Het
Rcor3	G	T	1: 192,101,085	T361K	possibly damaging	Het
Robo4	A	G	9: 37,402,017		probably benign	Het
Rps15	T	C	10: 80,293,839	V96A	probably benign	Het
Rrm2	T	A	12: 24,709,432	N55K	probably damaging	Het
Shank2	T	C	7: 144,128,375	Y382H	probably benign	Het
Slc25a10	G	T	11: 120,491,993	E3*	probably null	Het
Slc7a8	T	A	14: 54,735,841	E223V	probably benign	Het
Snx13	A	G	12: 35,144,097	K880E	probably benign	Het
Spinkl	T	G	18: 44,168,149	M41L	probably benign	Het
Srp54a	A	C	12: 55,089,257	N19T	probably benign	Het
Sun2	T	C	15: 79,734,155	K268E	probably benign	Het
Sytl1	G	A	4: 133,255,624	Q359*	probably null	Het
Tlr6	A	T	5: 64,953,595	F656L	probably damaging	Het
Tmem185a	C	T	X: 70,462,186		probably null	Het
Tmem45a2	C	T	16: 57,039,035	D278N	probably benign	Het
Trav7-1	T	C	14: 52,655,334		probably benign	Het
Trpc2	T	A	7: 102,093,574	M597K	probably damaging	Het
Ttc21a	A	G	9: 119,950,816		probably benign	Het
Usp9y	C	T	Y: 1,313,741	M2188I	probably damaging	Het
Utrn	C	A	10: 12,750,030		probably null	Het
Vmn1r35	T	A	6: 66,679,073	R204S	probably damaging	Het
Zfp955b	T	A	17: 33,305,416	Y59F	probably damaging	Het

Other mutations in Ppp1r3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Ppp1r3a	APN	6	14755084	missense	probably damaging	1.00
IGL00670:Ppp1r3a	APN	6	14719060	missense	probably benign	0.22
IGL00703:Ppp1r3a	APN	6	14718408	missense	probably benign	0.02
IGL00726:Ppp1r3a	APN	6	14717852	missense	probably benign	0.42
IGL00742:Ppp1r3a	APN	6	14718609	missense	probably benign	0.36
IGL01477:Ppp1r3a	APN	6	14718346	missense	probably damaging	0.99
IGL01632:Ppp1r3a	APN	6	14754811	missense	probably damaging	1.00
IGL02162:Ppp1r3a	APN	6	14717715	missense	probably damaging	1.00
IGL02374:Ppp1r3a	APN	6	14718600	missense	probably damaging	1.00
IGL02539:Ppp1r3a	APN	6	14718459	missense	probably benign	0.01
IGL02563:Ppp1r3a	APN	6	14719762	missense	probably benign	0.20
IGL02929:Ppp1r3a	APN	6	14719811	missense	probably benign	0.00
IGL03110:Ppp1r3a	APN	6	14722065	splice site	probably benign
IGL03290:Ppp1r3a	APN	6	14754772	missense	probably damaging	1.00
IGL03326:Ppp1r3a	APN	6	14719766	missense	probably damaging	0.96
P0041:Ppp1r3a	UTSW	6	14719697	missense	probably benign	0.00
PIT4445001:Ppp1r3a	UTSW	6	14717777	missense	probably damaging	1.00
R0015:Ppp1r3a	UTSW	6	14717661	missense	possibly damaging	0.58
R0077:Ppp1r3a	UTSW	6	14754517	missense	possibly damaging	0.64
R0368:Ppp1r3a	UTSW	6	14718960	missense	probably benign	0.26
R0391:Ppp1r3a	UTSW	6	14719697	missense	probably benign	0.43
R1793:Ppp1r3a	UTSW	6	14754718	missense	probably damaging	1.00
R1797:Ppp1r3a	UTSW	6	14717982	missense	probably benign	0.02
R1855:Ppp1r3a	UTSW	6	14754994	missense	probably damaging	1.00
R1864:Ppp1r3a	UTSW	6	14718405	missense	probably damaging	1.00
R1865:Ppp1r3a	UTSW	6	14718405	missense	probably damaging	1.00
R2046:Ppp1r3a	UTSW	6	14722104	missense	probably benign	0.12
R2122:Ppp1r3a	UTSW	6	14721875	missense	possibly damaging	0.95
R2437:Ppp1r3a	UTSW	6	14718323	missense	probably benign	0.03
R2518:Ppp1r3a	UTSW	6	14719378	missense	possibly damaging	0.95
R2887:Ppp1r3a	UTSW	6	14718249	missense	possibly damaging	0.89
R2888:Ppp1r3a	UTSW	6	14718249	missense	possibly damaging	0.89
R2889:Ppp1r3a	UTSW	6	14718249	missense	possibly damaging	0.89
R3419:Ppp1r3a	UTSW	6	14719414	missense	probably benign	0.01
R3886:Ppp1r3a	UTSW	6	14719912	missense	possibly damaging	0.87
R3937:Ppp1r3a	UTSW	6	14719074	missense	probably damaging	0.99
R4246:Ppp1r3a	UTSW	6	14719781	missense	probably damaging	1.00
R4561:Ppp1r3a	UTSW	6	14754682	missense	probably damaging	1.00
R4701:Ppp1r3a	UTSW	6	14718993	missense	probably benign	0.00
R4853:Ppp1r3a	UTSW	6	14719047	missense	probably benign	0.03
R5076:Ppp1r3a	UTSW	6	14754681	missense	probably damaging	1.00
R5085:Ppp1r3a	UTSW	6	14719604	missense	probably damaging	1.00
R5501:Ppp1r3a	UTSW	6	14719418	missense	probably benign	0.02
R5725:Ppp1r3a	UTSW	6	14719349	missense	probably benign	0.04
R5729:Ppp1r3a	UTSW	6	14719763	missense	probably benign	0.06
R5741:Ppp1r3a	UTSW	6	14719883	missense	probably damaging	0.97
R5841:Ppp1r3a	UTSW	6	14718984	missense	probably benign	0.26
R5914:Ppp1r3a	UTSW	6	14718989	missense	probably benign	0.09
R6091:Ppp1r3a	UTSW	6	14719340	missense	probably benign	0.02
R6154:Ppp1r3a	UTSW	6	14754604	missense	possibly damaging	0.88
R6218:Ppp1r3a	UTSW	6	14718431	missense	probably damaging	0.99
R6813:Ppp1r3a	UTSW	6	14719571	missense	probably benign	0.13
R6826:Ppp1r3a	UTSW	6	14718981	nonsense	probably null
R6869:Ppp1r3a	UTSW	6	14754826	missense	probably benign	0.39
R7109:Ppp1r3a	UTSW	6	14719236	missense	probably benign	0.00
R7188:Ppp1r3a	UTSW	6	14719191	missense	probably benign	0.00
R7262:Ppp1r3a	UTSW	6	14719070	missense	probably benign	0.04
R7341:Ppp1r3a	UTSW	6	14718750	missense	probably damaging	0.97
R7770:Ppp1r3a	UTSW	6	14754978	missense	probably benign	0.06
R7856:Ppp1r3a	UTSW	6	14718026	missense	probably benign	0.01
R8309:Ppp1r3a	UTSW	6	14719701	missense	probably benign	0.02
R8422:Ppp1r3a	UTSW	6	14718435	nonsense	probably null
R8868:Ppp1r3a	UTSW	6	14755015	missense	probably damaging	1.00
R9039:Ppp1r3a	UTSW	6	14754526	missense	probably damaging	1.00
R9149:Ppp1r3a	UTSW	6	14722099	missense	probably benign	0.32
R9302:Ppp1r3a	UTSW	6	14721892	missense	probably benign	0.00
R9399:Ppp1r3a	UTSW	6	14755011	missense	probably damaging	0.99
R9565:Ppp1r3a	UTSW	6	14719467	missense	probably benign	0.02
Z1177:Ppp1r3a	UTSW	6	14755151	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- TCTGTCTCTCGGCAGGTAAAC -3'
(R):5'- AAGATATTACAGCTAACACCTGGG -3'

Sequencing Primer
(F):5'- CTCTCGGCAGGTAAACAAGTGTTC -3'
(R):5'- GCGGTGACAGTGGATCC -3'

Posted On

2015-04-17