Mutagenetix > Incidental Mutation

Incidental Mutation 'R1559:Ppp1r32'

170525

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

039598-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1559 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10474257-10482897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10481406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 87 (T87A)

Ref Sequence

ENSEMBL: ENSMUSP00000035684 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038842
AA Change: T87A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

95% (73/77)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,399,180	W3585R	probably null	Het
Babam1	G	C	8: 71,397,780	E18Q	probably damaging	Het
Bcan	G	T	3: 87,994,212	S394R	probably damaging	Het
Birc6	T	A	17: 74,692,237	F4653L	probably damaging	Het
Camsap2	A	T	1: 136,282,094	H559Q	probably benign	Het
Cars2	G	T	8: 11,530,430		probably null	Het
Ccdc93	T	A	1: 121,461,983		probably benign	Het
Ccna2	C	A	3: 36,570,730		probably benign	Het
Cdc6	T	A	11: 98,912,211	L326I	probably damaging	Het
Cdh23	A	T	10: 60,419,699		probably benign	Het
Cenpe	T	A	3: 135,270,900	S2423T	probably benign	Het
Cftr	A	G	6: 18,225,937	M295V	probably benign	Het
Cxcl2	A	G	5: 90,904,012	H23R	probably benign	Het
Cyp4a12b	A	G	4: 115,433,984	T370A	probably damaging	Het
Daam2	A	G	17: 49,496,120		probably benign	Het
Dclk3	T	C	9: 111,469,208	F607L	probably damaging	Het
Des	T	G	1: 75,360,586	S57A	probably benign	Het
Drd1	A	T	13: 54,052,945	S410T	probably damaging	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Fanci	T	C	7: 79,433,193	L639P	probably damaging	Het
Fancm	A	G	12: 65,093,689	E395G	probably benign	Het
Gm996	G	T	2: 25,577,031	S956*	probably null	Het
Grik3	A	G	4: 125,707,997	D889G	probably benign	Het
Heyl	A	G	4: 123,241,399	S62G	probably damaging	Het
Hmox1	C	T	8: 75,099,949	P267L	probably damaging	Het
Ifi213	A	C	1: 173,567,218	S584A	probably benign	Het
Il12rb2	G	T	6: 67,356,592	F234L	probably benign	Het
Il4i1	T	A	7: 44,839,387	S233T	probably damaging	Het
Itga4	A	G	2: 79,315,688	S745G	probably benign	Het
Kalrn	T	A	16: 34,010,548	I734F	possibly damaging	Het
Klk1b16	T	C	7: 44,141,001	I200T	probably benign	Het
Lrrc4c	T	A	2: 97,630,772	M581K	probably benign	Het
M6pr	A	T	6: 122,315,074	I122L	probably benign	Het
Magi3	T	C	3: 104,046,853		probably benign	Het
Mybpc2	T	G	7: 44,513,687	T480P	probably benign	Het
Olfr301	T	C	7: 86,412,367	S43P	probably benign	Het
Olfr346	A	G	2: 36,688,758	Y252C	probably damaging	Het
Olfr613	A	T	7: 103,552,165	I127F	possibly damaging	Het
Olfr937	T	C	9: 39,060,141	N175S	probably benign	Het
Pcx	T	A	19: 4,619,086	I704N	probably damaging	Het
Pde3a	G	T	6: 141,459,098	A350S	probably damaging	Het
Ppox	A	T	1: 171,280,006		probably benign	Het
Prb1	T	A	6: 132,208,544	Y42F	unknown	Het
Rsph4a	T	A	10: 33,909,731	V546E	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Sh3tc1	A	G	5: 35,703,349		probably null	Het
Slc22a2	T	C	17: 12,584,411	F44S	probably damaging	Het
Slco6c1	T	A	1: 97,098,498	D334V	probably damaging	Het
Smim19	T	C	8: 22,463,336	D105G	probably damaging	Het
Smpdl3a	A	G	10: 57,807,492	T233A	probably damaging	Het
St8sia5	G	A	18: 77,211,764		probably null	Het
Stk32a	C	A	18: 43,243,084	Q73K	probably benign	Het
Tmem129	G	T	5: 33,657,756		probably null	Het
Traf3ip3	A	T	1: 193,178,291	L441Q	probably damaging	Het
Ttn	C	T	2: 76,900,961		probably benign	Het
Unc45b	T	C	11: 82,917,846	S253P	possibly damaging	Het
Vars2	A	G	17: 35,666,258		probably benign	Het
Vmn2r51	A	G	7: 10,102,446	M136T	possibly damaging	Het
Vmn2r51	C	T	7: 10,102,445	M136I	possibly damaging	Het
Zfp595	T	C	13: 67,317,063	I379V	possibly 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
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
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'- CAGCTCTATGCAATGGGTAGAGGTG -3'
(R):5'- CGGGGCCAAGAAGGACTCTTAAAAC -3'

Sequencing Primer
(F):5'- TTCAGCTTGCTAGAGGAACC -3'
(R):5'- GCCAAGAAGGACTCTTAAAACATTTG -3'

Posted On

2014-04-13