Mutagenetix > Incidental Mutation

Incidental Mutation 'R6625:Ppp1r32'

524772

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r32

Ensembl Gene

ENSMUSG00000035179

Gene Name

protein phosphatase 1, regulatory subunit 32

Synonyms

IIIG9L, 4930579J09Rik, IIIG9S, IIIG9

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6625 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10474257-10482897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10481736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 65 (P65L)

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: P65L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

91% (30/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Apcdd1	C	A	18: 62,951,858	D375E	probably damaging	Het
Cacna2d1	A	T	5: 16,362,393	R984W	probably null	Het
Csmd3	T	G	15: 47,607,075	I3402L	probably benign	Het
Dnah7a	T	A	1: 53,565,757	T1281S	probably benign	Het
Dnmt3b	T	C	2: 153,665,313	I139T	probably benign	Het
Dtnbp1	T	C	13: 44,992,031	E40G	possibly damaging	Het
Fam162b	C	T	10: 51,590,295	G43R	probably damaging	Het
G2e3	T	G	12: 51,353,789		probably null	Het
Gm13119	T	A	4: 144,363,799	Y470N	probably damaging	Het
Gm3286	C	T	5: 95,521,483	H124Y	possibly damaging	Het
Kiss1r	G	A	10: 79,919,534	V118I	possibly damaging	Het
Mre11a	T	C	9: 14,805,391	M294T	possibly damaging	Het
Muc16	A	T	9: 18,660,278	V315D	unknown	Het
Nelfe	C	T	17: 34,854,358	P290S	probably benign	Het
Olfr1396	T	A	11: 49,113,069	Y219F	probably damaging	Het
Olfr1441	T	G	19: 12,422,841	H177Q	probably damaging	Het
Pcolce2	T	A	9: 95,678,439	C180*	probably null	Het
Piezo2	A	T	18: 63,021,262	V2482D	probably damaging	Het
Plagl1	T	C	10: 13,128,062		probably benign	Het
Prss48	G	T	3: 85,998,066	Q167K	probably benign	Het
Scyl1	C	A	19: 5,760,826	V488F	probably damaging	Het
Sh3pxd2b	T	A	11: 32,422,594	L587Q	possibly damaging	Het
Sim1	A	G	10: 50,983,986	D648G	probably benign	Het
Snupn	G	A	9: 56,982,770	V292I	probably benign	Het
St6galnac1	T	C	11: 116,765,891	H474R	probably damaging	Het
Thap12	G	A	7: 98,716,070	V482I	probably benign	Het
Usp13	T	A	3: 32,894,876	V454D	probably damaging	Het
Usp40	T	C	1: 87,967,213	I862V	probably benign	Het
Vmn2r59	A	T	7: 42,043,753	F474L	probably benign	Het
Zbtb38	T	C	9: 96,687,313	R573G	probably damaging	Het
Zfp493	C	T	13: 67,786,395	Q156*	probably null	Het
Zfp873	C	A	10: 82,060,304	P290T	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
R6754:Ppp1r32	UTSW	19	10477089	missense	probably damaging	1.00
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'- ACTTATTCCCAGGAGCATCATCTC -3'
(R):5'- TTAGGGTTCCTTAGGCCCTG -3'

Sequencing Primer
(F):5'- AATGTTTTAAGAGTCCTTCTTGGCC -3'
(R):5'- CTGGTGGCTGCTGGCTC -3'

Posted On

2018-06-22