Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Ppp1r32'

513101

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 #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10474257-10482897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10479481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 167 (N167D)

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: N167D

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,259,202	Q657*	probably null	Het
Car15	T	C	16: 17,838,066	T560A	probably benign	Het
Cass4	C	T	2: 172,432,611	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,460	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,438,429	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,431,736	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,597,455		probably null	Het
Dab2ip	A	G	2: 35,710,266	H355R	probably benign	Het
Dennd2a	C	T	6: 39,493,142	A539T	probably benign	Het
Dnajc18	T	C	18: 35,686,709	E173G	probably damaging	Het
Dock7	T	C	4: 98,969,662	I1472V	probably benign	Het
Esco1	A	T	18: 10,574,931	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619	H73P	probably damaging	Het
Fam46b	T	C	4: 133,486,756	F313L	probably damaging	Het
Flg	A	G	3: 93,290,601		probably benign	Het
Fyn	C	A	10: 39,526,883	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,083,730	D330G	probably benign	Het
Gin1	T	C	1: 97,792,539	S509P	possibly damaging	Het
Gm15922	A	T	7: 3,736,504	L455Q	probably damaging	Het
Gm17067	A	C	7: 42,708,482	S199A	probably benign	Het
Grk4	A	T	5: 34,674,537	K50M	probably damaging	Het
Inpp4b	A	G	8: 81,902,852	H272R	probably benign	Het
Ipo7	T	A	7: 110,027,129	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,779,206	I515T	probably damaging	Het
Kcnu1	T	A	8: 25,861,180	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,173,270	N336S	probably benign	Het
Lbr	G	T	1: 181,832,155	D158E	probably benign	Het
Mphosph10	T	C	7: 64,389,955	Q89R	probably benign	Het
Nectin3	T	A	16: 46,411,109	T21S	probably benign	Het
Numb	C	A	12: 83,797,262	R383L	probably damaging	Het
Olfr1370	A	T	13: 21,072,583	N239K	probably damaging	Het
Olfr461	G	T	6: 40,544,713	Q89K	possibly damaging	Het
Park2	T	C	17: 12,004,052	F363S	probably damaging	Het
Pcdhb11	A	T	18: 37,422,159	I181F	probably benign	Het
Pcgf2	T	A	11: 97,692,409		probably null	Het
Pdzd8	T	C	19: 59,300,983	T662A	probably benign	Het
Pex13	A	C	11: 23,655,690	V180G	probably benign	Het
Pkp4	T	A	2: 59,214,747	V22D	probably benign	Het
Prpf4b	A	C	13: 34,901,433	D954A	probably damaging	Het
Rfx8	T	C	1: 39,680,965	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,361,419	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778	C453S	possibly damaging	Het
Scarf1	G	T	11: 75,515,669	G260W	probably damaging	Het
Scyl1	T	C	19: 5,760,571	E538G	probably damaging	Het
Sec14l5	A	T	16: 5,172,995	I267F	probably damaging	Het
Senp6	T	A	9: 80,113,806	V256D	probably benign	Het
Sf3b4	G	A	3: 96,176,728		probably benign	Het
Ssh1	T	C	5: 113,961,347		probably null	Het
Tas2r143	A	C	6: 42,400,835	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,214,629	P19S	probably damaging	Het
Tmc5	T	A	7: 118,633,966	M1K	probably null	Het
Tnc	T	C	4: 64,000,733	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,769,441	E285G	probably damaging	Het
Txndc11	C	T	16: 11,084,792	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,663,082	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476	I369L	probably benign	Het
Vwf	A	T	6: 125,683,526	T2666S	probably benign	Het
Yif1a	A	G	19: 5,092,341	M259V	probably benign	Het
Zbtb46	T	C	2: 181,391,455	D471G	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
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'- TATGGTGGACACTTTGATGCAG -3'
(R):5'- GCCATGAAGGTGCTCTGTAG -3'

Sequencing Primer
(F):5'- CTCTAGCCGCATATGTAGCGGAAG -3'
(R):5'- CTCTGTAGCAGTGGAGGACAG -3'

Posted On

2018-04-27