Mutagenetix > Incidental Mutation

Incidental Mutation 'R8157:Ppp1r32'

633109

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 #

R8157 (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 10478265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 207 (F207I)

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: F207I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310011J03Rik	T	A	10: 80,319,527	R51W	probably damaging	Het
3110002H16Rik	T	C	18: 12,188,633	V497A	possibly damaging	Het
Adam3	A	G	8: 24,707,437	I326T	probably benign	Het
Alpk3	A	G	7: 81,093,722	K1096E	probably benign	Het
Aph1a	T	C	3: 95,894,838	V44A	possibly damaging	Het
Ash1l	T	A	3: 89,063,707		probably null	Het
Atg2b	A	G	12: 105,662,940	M410T	probably damaging	Het
Ccdc15	C	T	9: 37,315,457	G407D	probably benign	Het
Cd200r4	T	A	16: 44,833,141	N137K	probably damaging	Het
Clec18a	A	G	8: 111,072,051	L438P	probably damaging	Het
Clip1	A	G	5: 123,630,719	S606P	probably benign	Het
Col11a2	G	A	17: 34,061,256	G1193E	unknown	Het
Col6a4	A	G	9: 106,067,898	S1006P	possibly damaging	Het
Ctsc	A	T	7: 88,302,208	D221V	probably benign	Het
Ctse	T	C	1: 131,672,511	Y333H	probably damaging	Het
Cyp2c23	T	C	19: 44,021,627	N93S	probably benign	Het
Daam1	A	T	12: 71,952,489	D633V	probably damaging	Het
Dlg2	G	A	7: 92,386,932	R607H	probably damaging	Het
Dsg2	T	A	18: 20,580,549	D192E	probably damaging	Het
Dync2h1	A	T	9: 7,001,473	N3838K	possibly damaging	Het
Ephx2	A	C	14: 66,108,057	S153A	probably damaging	Het
Eprs	C	A	1: 185,398,394	H651N	probably benign	Het
Fat2	T	C	11: 55,252,084	D4313G	possibly damaging	Het
Fras1	A	G	5: 96,554,855	K252R	probably benign	Het
Galt	A	T	4: 41,757,226	Q193L	probably benign	Het
Gatsl2	T	C	5: 134,137,097	F228S	possibly damaging	Het
Gm21964	A	G	8: 110,108,861	M24V	probably benign	Het
Gm7356	T	C	17: 14,001,321	K149E	probably damaging	Het
Gmcl1	G	T	6: 86,721,426	A163E	probably damaging	Het
Hectd1	T	A	12: 51,791,290	R696S	possibly damaging	Het
Hydin	A	G	8: 110,452,036	I1088V	probably benign	Het
Igkv4-68	A	T	6: 69,305,322	S14R	probably benign	Het
Lamb2	C	T	9: 108,480,646	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,254,222	R202*	probably null	Het
Lrit3	T	C	3: 129,800,635	T98A	probably benign	Het
Macc1	A	G	12: 119,445,993	I165M	probably benign	Het
Mapre2	T	A	18: 23,858,161	M162K	probably benign	Het
Mzf1	T	A	7: 13,044,352	H454L	probably damaging	Het
Naa30	T	A	14: 49,173,408	N264K	probably benign	Het
Olfr199	A	G	16: 59,215,989	V208A	probably benign	Het
Olfr924	T	A	9: 38,848,466	Y117*	probably null	Het
Osr2	T	C	15: 35,301,917	I221T	probably benign	Het
Pcdh12	A	T	18: 38,282,797	I425K	probably benign	Het
Pcdhb3	T	G	18: 37,303,239	Y753D	probably damaging	Het
Pcdhb9	T	A	18: 37,403,155	V734E	probably damaging	Het
Pibf1	T	A	14: 99,196,395	L593I	probably benign	Het
Prag1	G	A	8: 36,147,239	C1315Y	probably damaging	Het
Prl3c1	T	C	13: 27,199,347	S19P	probably damaging	Het
Ptprz1	A	T	6: 23,002,540	D1543V	probably damaging	Het
Ripor2	A	G	13: 24,695,617	N356S	probably benign	Het
Scrib	T	C	15: 76,059,188	H914R	possibly damaging	Het
Sema6b	G	A	17: 56,128,448	A265V	probably damaging	Het
Tdrd9	C	G	12: 111,985,066	L97V	probably benign	Het
Trabd	T	A	15: 89,085,821	L340H	probably damaging	Het
Trpm1	T	C	7: 64,199,269	W88R	probably damaging	Het
Txndc12	G	T	4: 108,853,222		probably null	Het
Vmn1r175	T	C	7: 23,809,098	I35V	probably benign	Het
Vmn1r48	A	T	6: 90,036,012	V277E	probably damaging	Het
Vmn2r72	G	A	7: 85,751,233	H203Y	probably benign	Het
Zbtb7c	A	G	18: 76,137,327	E162G	probably benign	Het
Zfp93	T	A	7: 24,276,460	C623*	probably null	Het
Zzz3	A	G	3: 152,449,648	I645V	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
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'- CATTCCATACTTGTCTGGAGGG -3'
(R):5'- CTGGGCTGATTTCAGTGCTC -3'

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

Posted On

2020-06-30