Mutagenetix > Incidental Mutation

Incidental Mutation 'R8797:Ppp1r32'

671336

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 #

R8797 (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 10478238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 216 (I216V)

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: I216V

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

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

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,750,396	S1149P	possibly damaging	Het
Acsm5	C	A	7: 119,538,151	P397T	probably damaging	Het
Adamts14	C	T	10: 61,271,002	R113K	probably benign	Het
Baiap2	G	A	11: 120,006,375	V519I	probably benign	Het
Ccna1	C	T	3: 55,045,648	A233T	probably benign	Het
Cdon	T	C	9: 35,478,635	Y862H	probably damaging	Het
Crygc	C	T	1: 65,071,871	A86T	probably benign	Het
Cyb5d2	T	G	11: 72,778,836	N232T	probably benign	Het
Dnah14	C	A	1: 181,637,847	H1193N	probably benign	Het
Dnah17	T	G	11: 118,101,375	E1170A	probably benign	Het
Dnah7b	A	G	1: 46,123,646	Y384C	probably damaging	Het
Fat4	G	A	3: 38,999,129	V4091I	probably benign	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
G6pc2	A	G	2: 69,220,097	Y22C	probably benign	Het
Gpihbp1	A	T	15: 75,597,979	Q181L	possibly damaging	Het
Hhatl	A	T	9: 121,790,899		probably benign	Het
Hist1h2bc	C	T	13: 23,684,569	S113L	probably damaging	Het
Iars	C	A	13: 49,688,262	S75R	probably benign	Het
Igfn1	T	A	1: 135,974,835	I375F	possibly damaging	Het
Itih4	A	G	14: 30,896,572	I647V	probably benign	Het
Jmjd1c	T	A	10: 67,224,837	C703S	probably benign	Het
L3mbtl2	C	T	15: 81,685,414	T619I	possibly damaging	Het
Lct	T	C	1: 128,303,947	T722A	possibly damaging	Het
Meioc	C	T	11: 102,676,860	Q827*	probably null	Het
Meis2	T	C	2: 115,864,505	S386G	probably benign	Het
Mroh8	T	A	2: 157,229,956	D543V	probably damaging	Het
Ms4a13	C	T	19: 11,183,836	R113H	probably benign	Het
Myrfl	T	C	10: 116,777,420	Y826C	probably benign	Het
Nf1	T	C	11: 79,475,885		probably benign	Het
Nrg3	A	C	14: 38,371,286	L542R	probably benign	Het
Olfr1373	T	A	11: 52,145,513	T6S	probably benign	Het
Olfr71	T	C	4: 43,706,455	T38A	probably damaging	Het
Olfr808	T	A	10: 129,767,805	I103K	probably damaging	Het
Pcdh15	A	G	10: 74,584,146	N1212S	probably damaging	Het
Pcsk5	G	A	19: 17,466,108	T1229I	probably benign	Het
Pkd1l3	A	T	8: 109,648,314	H1483L	probably benign	Het
Polr3b	T	A	10: 84,697,015	L840*	probably null	Het
Psd4	A	T	2: 24,397,428	R457S	probably benign	Het
Rgs12	A	G	5: 35,029,571	S194G		Het
Rps3	A	G	7: 99,483,590		probably null	Het
Sgcb	G	T	5: 73,635,693	N255K	probably benign	Het
Sla2	A	G	2: 156,875,879	Y158H	probably damaging	Het
Sla2	G	A	2: 156,875,903	Q150*	probably null	Het
Slc12a2	T	A	18: 57,879,383	Y193N	possibly damaging	Het
Supt16	G	T	14: 52,172,503	T749K	probably damaging	Het
Uqcrc2	A	G	7: 120,640,277	E104G	probably damaging	Het
Vasp	T	C	7: 19,260,638	N251S	unknown	Het
Vmn1r72	A	G	7: 11,670,038	M161T	probably benign	Het
Zc3h18	T	C	8: 122,408,250		probably benign	Het
Zfp981	T	A	4: 146,535,449	L20*	probably null	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
R7679:Ppp1r32	UTSW	19	10482254	missense	probably damaging	1.00
R8157:Ppp1r32	UTSW	19	10478265	missense	probably damaging	1.00
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'- GGACTCTTAAACATAGGAGTGGTG -3'
(R):5'- TCACTTGGGTCTGAGCACAG -3'

Sequencing Primer
(F):5'- CTCTTAAACATAGGAGTGGTGTTCTC -3'
(R):5'- TTGGGTCTGAGCACAGCTACTC -3'

Posted On

2021-04-30