Mutagenetix > Incidental Mutation

Incidental Mutation 'R5998:Ppp1r32'

480695

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

044177-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10474257-10482897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10481352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 105 (W105R)

Ref Sequence

ENSEMBL: ENSMUSP00000035684 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038842
AA Change: W105R

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,567,708	V4437I	probably damaging	Het
Acot12	T	C	13: 91,757,534	I71T	possibly damaging	Het
Adcy10	A	G	1: 165,541,649	I630V	probably benign	Het
Adcy3	T	A	12: 4,198,348	V470E	probably damaging	Het
Adcy6	C	A	15: 98,594,354	E1008*	probably null	Het
Adgrb3	A	T	1: 25,431,501		probably null	Het
Ahrr	T	A	13: 74,213,836	S515C	probably damaging	Het
Ankrd52	T	C	10: 128,383,123	I416T	probably damaging	Het
Arhgap45	T	C	10: 80,030,950	S1096P	probably damaging	Het
Atp8b4	A	G	2: 126,433,867		probably null	Het
Bcl6b	A	C	11: 70,228,183	I200M	probably damaging	Het
Btbd19	T	A	4: 117,120,999	E234V	probably benign	Het
Csmd1	G	A	8: 15,910,443	T3324I	probably damaging	Het
Cyp2a5	G	A	7: 26,837,153	V186I	probably benign	Het
Glb1l2	G	A	9: 26,766,003	T533I	possibly damaging	Het
Gm10471	T	C	5: 26,084,706	D241G	probably damaging	Het
Gm8994	T	C	6: 136,328,624	F28L	probably benign	Het
Helz	G	T	11: 107,685,534	E1851*	probably null	Het
Igkv15-103	T	A	6: 68,437,505	F13Y	unknown	Het
Kcnq2	T	C	2: 181,087,008	H548R	probably damaging	Het
Mcm3ap	T	C	10: 76,481,142		probably null	Het
Micall2	T	C	5: 139,706,911		probably null	Het
Mill2	A	G	7: 18,840,064	R25G	probably benign	Het
Mtcl1	G	A	17: 66,368,280	H1041Y	probably damaging	Het
Olfr180	T	C	16: 58,916,630	T4A	probably benign	Het
Olfr926	G	A	9: 38,877,869	R231H	probably damaging	Het
Pigt	A	G	2: 164,507,454	E559G	possibly damaging	Het
Pkdrej	A	G	15: 85,815,453	V2094A	probably benign	Het
Prkdc	T	A	16: 15,783,157	L2894Q	probably damaging	Het
Tmem63b	A	G	17: 45,670,000	V256A	possibly damaging	Het
Zfp516	T	C	18: 82,956,514	L279P	probably damaging	Het
Zfp780b	T	A	7: 27,964,622	K169N	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
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'- TATGCAATGGGTAGAGGTGC -3'
(R):5'- TCCAAAGCAAGGCCTGAATG -3'

Sequencing Primer
(F):5'- CTACTTCAGCTTGCTAGAGGAAC -3'
(R):5'- AGATGATGCTCCTGGGAATAAGTAC -3'

Posted On

2017-06-26