Mutagenetix > Incidental Mutation

Incidental Mutation 'R6754:Ppp1r32'

530979

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r32

Ensembl Gene

ENSMUSG00000035179

Gene Name

protein phosphatase 1, regulatory subunit 32

Synonyms

IIIG9L, 4930579J09Rik, IIIG9S, IIIG9

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6754 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10474257-10482897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10477089 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 328 (Y328N)

Ref Sequence

ENSEMBL: ENSMUSP00000035684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038842]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000038842
AA Change: Y328N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	C	17: 56,883,358	F352L	probably damaging	Het
Acta2	T	C	19: 34,244,983	D246G	probably damaging	Het
Ank2	A	G	3: 127,096,839		probably benign	Het
Bmpr2	T	A	1: 59,870,280	I971N	probably damaging	Het
C9	C	A	15: 6,489,943	C8*	probably null	Het
Casp2	T	A	6: 42,269,330	N207K	probably damaging	Het
Cd302	T	G	2: 60,272,107	D56A	probably benign	Het
Cecr2	C	T	6: 120,757,578	P605S	probably damaging	Het
Cep152	A	G	2: 125,587,668	V723A	probably damaging	Het
Col17a1	C	T	19: 47,650,721		probably null	Het
Ctsk	T	C	3: 95,502,685	V168A	probably damaging	Het
Cyp2c54	A	T	19: 40,071,560	N176K	probably damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
F5	A	G	1: 164,193,763	D1269G	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Hivep2	G	A	10: 14,129,638	G660D	probably benign	Het
Hspb3	A	T	13: 113,663,152	I114K	probably damaging	Het
Itgb7	T	G	15: 102,216,160	*807C	probably null	Het
Kbtbd2	A	G	6: 56,779,254	V499A	probably damaging	Het
Lemd3	A	T	10: 120,933,660	I589N	probably damaging	Het
Mettl13	T	C	1: 162,548,123	Y45C	probably damaging	Het
Mllt6	C	T	11: 97,674,447	T571I	probably damaging	Het
Mrvi1	G	A	7: 110,929,512	P43S	probably damaging	Het
Nabp1	A	G	1: 51,474,540	I99T	probably damaging	Het
Ndufa4	A	G	6: 11,906,053	V33A	probably benign	Het
Nr1h5	A	G	3: 102,949,597	S200P	probably damaging	Het
Ntsr1	G	A	2: 180,542,683	R393H	probably benign	Het
Olfr115	T	C	17: 37,610,155	N199D	probably benign	Het
Olfr1221	G	T	2: 89,112,296	T72N	possibly damaging	Het
Pcdhb21	A	T	18: 37,514,683	K288N	probably benign	Het
Pla2g6	T	C	15: 79,306,310	N351D	probably benign	Het
Polg	T	C	7: 79,459,836	E411G	probably damaging	Het
Prdm11	A	G	2: 93,013,792	L31P	probably damaging	Het
Rab27b	G	A	18: 69,996,103	T40I	probably damaging	Het
Rnf219	C	T	14: 104,503,414	E191K	probably damaging	Het
Ruvbl2	T	C	7: 45,428,758	D97G	probably benign	Het
Sema3a	T	C	5: 13,599,275	V664A	possibly damaging	Het
Sh2d3c	T	C	2: 32,754,530	S842P	probably damaging	Het
Spam1	A	G	6: 24,796,316	T89A	probably damaging	Het
Stab1	C	T	14: 31,141,081	G2187E	probably benign	Het
Tff2	C	A	17: 31,144,233	A6S	probably benign	Het
Trim80	T	C	11: 115,448,174	V610A	probably damaging	Het
Trp53bp1	A	G	2: 121,270,576	V47A	possibly damaging	Het
Ufl1	G	A	4: 25,267,796	Q292*	probably null	Het
Ulk1	A	T	5: 110,790,393	V571E	possibly damaging	Het
Usp24	A	T	4: 106,360,420	N447Y	probably damaging	Het
Vmn1r81	A	T	7: 12,259,847	I278K	probably damaging	Het

Other mutations in Ppp1r32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Ppp1r32	APN	19	10477523	critical splice donor site	probably null
IGL00979:Ppp1r32	APN	19	10474499	makesense	probably null
IGL02405:Ppp1r32	APN	19	10474566	missense	probably damaging	1.00
IGL02664:Ppp1r32	APN	19	10482291	missense	probably damaging	1.00
IGL03105:Ppp1r32	APN	19	10477020	splice site	probably benign
R0255:Ppp1r32	UTSW	19	10475054	missense	probably damaging	1.00
R0268:Ppp1r32	UTSW	19	10477085	missense	possibly damaging	0.88
R1018:Ppp1r32	UTSW	19	10479460	splice site	probably benign
R1559:Ppp1r32	UTSW	19	10481406	missense	probably benign	0.01
R2384:Ppp1r32	UTSW	19	10481282	critical splice donor site	probably null
R4362:Ppp1r32	UTSW	19	10475021	missense	probably damaging	1.00
R4884:Ppp1r32	UTSW	19	10474501	makesense	probably null
R5998:Ppp1r32	UTSW	19	10481352	missense	possibly damaging	0.50
R6130:Ppp1r32	UTSW	19	10477764	missense	probably benign	0.16
R6360:Ppp1r32	UTSW	19	10479481	missense	probably damaging	1.00
R6388:Ppp1r32	UTSW	19	10482301	missense	probably damaging	1.00
R6625:Ppp1r32	UTSW	19	10481736	missense	probably damaging	0.97
R7188:Ppp1r32	UTSW	19	10482338	missense	probably benign	0.15
R7361:Ppp1r32	UTSW	19	10479579	missense	probably damaging	1.00
R7679:Ppp1r32	UTSW	19	10482254	missense	probably damaging	1.00
R8157:Ppp1r32	UTSW	19	10478265	missense	probably damaging	1.00
R8797:Ppp1r32	UTSW	19	10478238	missense	probably benign	0.43
R8859:Ppp1r32	UTSW	19	10482235	missense	probably damaging	1.00
R9315:Ppp1r32	UTSW	19	10481403	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTGTGTCTGGAAGAGTTCAG -3'
(R):5'- TATAGGTGCCTACTCCAGCC -3'

Sequencing Primer
(F):5'- AAGAGTTCAGTGGGAGGTTTTCC -3'
(R):5'- ACAGTCTGCCAGCATGAGC -3'

Posted On

2018-08-01