Mutagenetix > Incidental Mutation

Incidental Mutation 'R6130:Ppp1r32'

487112

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

044277-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6130 (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 10477764 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 233 (P233L)

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: P233L

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,868,359	I7M	unknown	Het
Abi3	T	A	11: 95,837,095	E90V	probably damaging	Het
Adgrv1	A	C	13: 81,427,745	V4834G	probably damaging	Het
Aen	A	T	7: 78,902,639		probably null	Het
Ankrd55	A	G	13: 112,318,446	D26G	probably damaging	Het
Antxr2	T	C	5: 98,004,272	E160G	possibly damaging	Het
Auts2	T	C	5: 131,440,223	H528R	probably damaging	Het
Casd1	A	G	6: 4,641,948	T742A	probably damaging	Het
Ccdc39	T	C	3: 33,841,192		probably null	Het
Ctla4	T	C	1: 60,912,491	Y60H	probably damaging	Het
Dennd4b	T	C	3: 90,276,259	L935P	probably damaging	Het
Dnah6	T	A	6: 73,188,494	T543S	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Fdxacb1	C	T	9: 50,772,602	R420*	probably null	Het
Flg	A	G	3: 93,292,716		probably benign	Het
Fpr1	T	A	17: 17,877,635	I31F	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gsta1	T	A	9: 78,242,565	F220Y	probably damaging	Het
Hmg20a	T	A	9: 56,488,607		probably null	Het
Igf2bp1	A	C	11: 95,974,020	L201R	probably damaging	Het
Jph3	G	A	8: 121,753,087	R168H	probably damaging	Het
Kif1a	T	A	1: 93,036,901	I1318F	probably damaging	Het
Lamc2	T	C	1: 153,136,777	N717S	probably benign	Het
Lepr	A	T	4: 101,765,372	S450C	probably damaging	Het
Muc16	A	G	9: 18,590,698	V6535A	probably damaging	Het
Myom3	A	G	4: 135,762,571	T18A	probably benign	Het
Nlrp5	A	G	7: 23,404,173	K22E	probably benign	Het
Obscn	A	C	11: 59,077,945	S2534A	possibly damaging	Het
Olfr318	A	G	11: 58,720,307	V247A	probably damaging	Het
Olfr50	A	T	2: 36,794,043	D269V	probably benign	Het
Pcdhga8	T	A	18: 37,727,527	N545K	possibly damaging	Het
Pcsk5	A	T	19: 17,511,556	Y967N	probably damaging	Het
Robo2	C	T	16: 73,920,682	G100S	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Scap	A	G	9: 110,380,379	T707A	possibly damaging	Het
Scarf1	A	G	11: 75,525,739	Q669R	probably benign	Het
Scin	T	C	12: 40,069,436	D531G	probably benign	Het
Sh2b3	T	C	5: 121,815,563		probably null	Het
Slco1a6	T	C	6: 142,086,429	S657G	probably benign	Het
Stil	T	A	4: 115,029,861		probably null	Het
Syna	T	A	5: 134,558,268	Q609L	possibly damaging	Het
Tmem59l	A	G	8: 70,484,605	S271P	probably damaging	Het
Tns2	A	G	15: 102,111,241	E522G	probably damaging	Het
Trappc6a	G	A	7: 19,515,294	A149T	probably benign	Het
Trim21	A	T	7: 102,563,291	L156H	possibly damaging	Het
Trpv3	A	G	11: 73,296,483	R714G	possibly damaging	Het
Wdr63	A	C	3: 146,042,804	Y852D	probably benign	Het
Zfp72	T	A	13: 74,372,341	Q206L	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
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
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'- TGAATCCAGTGTCCCGATCAG -3'
(R):5'- TCCCATTCTGGACCAGGAGTTG -3'

Sequencing Primer
(F):5'- ATCAGAGCCTCTGGACAGC -3'
(R):5'- TGGTCATTCCACCCAAACTC -3'

Posted On

2017-10-10