Mutagenetix > Incidental Mutation

Incidental Mutation 'R7679:Ppp1r32'

592673

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7679 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10474257-10482897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10482254 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 30 (T30A)

Ref Sequence

ENSEMBL: ENSMUSP00000035684 (fasta)

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000038842
AA Change: T30A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	C	14: 78,514,816	Y206D		Het
Atm	A	T	9: 53,442,497	I2906N	probably damaging	Het
B4galnt4	T	C	7: 141,067,765	V422A	probably benign	Het
Bod1l	TTCAGGGATC	TTC	5: 41,820,643		probably null	Het
Ccar2	G	A	14: 70,139,235	Q887*	probably null	Het
Cdh13	A	G	8: 119,236,919	I413V	probably benign	Het
Cfap54	A	G	10: 92,967,512	V1556A	probably benign	Het
Chchd7	A	T	4: 3,941,297	N14Y	probably damaging	Het
Col24a1	C	A	3: 145,399,355	T824N	possibly damaging	Het
Col6a3	A	T	1: 90,811,751	Y859N	possibly damaging	Het
Dnaaf5	C	T	5: 139,150,637	P131S	unknown	Het
Erh	T	C	12: 80,637,571	N44S	probably benign	Het
Esm1	T	A	13: 113,210,112	D90E	probably damaging	Het
Fbxo44	A	G	4: 148,153,632	F213L	probably benign	Het
Flnc	A	G	6: 29,456,790	T2262A	probably benign	Het
Fmo9	T	C	1: 166,667,489	Q281R	probably benign	Het
Gdpgp1	G	T	7: 80,238,576	E118D	probably benign	Het
Gnas	A	T	2: 174,284,831	Q53L	probably damaging	Het
Gpr142	G	A	11: 114,806,707	V360M	possibly damaging	Het
Grn	A	G	11: 102,433,069	D46G	probably benign	Het
H2-T10	A	G	17: 36,119,324	F242L	not run	Het
Hgsnat	T	C	8: 25,954,637	T428A	probably damaging	Het
Hoxa9	A	G	6: 52,224,308	I251T	probably damaging	Het
Inpp5f	C	T	7: 128,694,523	T866I	possibly damaging	Het
Itgb1	T	A	8: 128,720,448	N481K	probably damaging	Het
Leng9	C	A	7: 4,149,660	D6Y	probably benign	Het
Lox	A	C	18: 52,525,106	F332V	possibly damaging	Het
Lrp1	G	T	10: 127,588,428	Y796*	probably null	Het
Lrrc32	G	A	7: 98,499,687	G558D	possibly damaging	Het
Lrrk2	A	G	15: 91,726,186	E707G	possibly damaging	Het
Matn4	A	G	2: 164,389,658	*625R	probably null	Het
Mcur1	T	A	13: 43,544,483	K314*	probably null	Het
Med1	G	C	11: 98,156,061	P1303R	unknown	Het
Mgam	T	C	6: 40,643,046	L23P	probably damaging	Het
Muc6	G	C	7: 141,637,746	P2338R	probably damaging	Het
Nfatc1	T	C	18: 80,607,990	I936V	probably benign	Het
Nol11	T	C	11: 107,173,316	S557G	probably benign	Het
Palb2	A	G	7: 122,128,014	I211T	probably benign	Het
Pard3	T	C	8: 127,371,846	V456A	probably benign	Het
Pax2	G	A	19: 44,760,937	V40M	probably damaging	Het
Pik3cb	T	C	9: 99,088,607	K344E	probably benign	Het
Pik3r3	T	A	4: 116,256,195	M45K	probably benign	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Pot1a	A	G	6: 25,771,634	V196A	probably benign	Het
Prkdc	T	A	16: 15,831,319	I3719N	probably damaging	Het
Psg16	G	A	7: 17,093,760	G123S	probably damaging	Het
Psme4	A	G	11: 30,878,425	D1815G	probably damaging	Het
Rpe65	C	T	3: 159,604,393	T101I	probably damaging	Het
Rpp25l	A	C	4: 41,712,326	C150G	unknown	Het
Serpina1b	A	T	12: 103,730,515	W212R	probably damaging	Het
Slc9a3	G	A	13: 74,160,276	R466H	possibly damaging	Het
Sned1	T	C	1: 93,236,038	L17P	unknown	Het
Speg	C	T	1: 75,406,315	T1056I	probably damaging	Het
Tada1	T	C	1: 166,391,971	F281L	probably benign	Het
Tbcd	G	A	11: 121,603,708	V1032I	probably benign	Het
Tlr3	A	T	8: 45,399,051	S270T	probably benign	Het
Txndc15	G	T	13: 55,725,808	R327L	probably damaging	Het
Zfp169	G	C	13: 48,498,383	L66V	probably damaging	Het
Zfp442	G	T	2: 150,410,997	Y45*	probably null	Het
Zzef1	A	G	11: 72,893,278	D2003G	probably benign	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
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
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'- ATACTTCAGTGACAGGACCAAGG -3'
(R):5'- GGGTGACTGTCATTGCAGAG -3'

Sequencing Primer
(F):5'- CCAGACAAGGCCAGCTTGATTG -3'
(R):5'- TCATTGCAGAGGTTGAAGCC -3'

Posted On

2019-11-12