Mutagenetix > Incidental Mutation

Incidental Mutation 'R0332:Ppp1r36'

35940

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r36

Ensembl Gene

ENSMUSG00000052221

Gene Name

protein phosphatase 1, regulatory subunit 36

Synonyms

MMRRC Submission

038541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R0332 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76464312-76486266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76474677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 86 (F86L)

Ref Sequence

ENSEMBL: ENSMUSP00000069849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063977] [ENSMUST00000220187]

AlphaFold

D3Z0R2

Predicted Effect

probably benign
Transcript: ENSMUST00000063977
AA Change: F86L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000069849
Gene: ENSMUSG00000052221
AA Change: F86L

Domain	Start	End	E-Value	Type
Pfam:PPPI_inhib	52	402	5.7e-109	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218732

Predicted Effect

probably benign
Transcript: ENSMUST00000220187
AA Change: F57L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,505,954 (GRCm39)	E211G	probably damaging	Het
Aox3	A	G	1: 58,181,910 (GRCm39)	N299S	probably benign	Het
Arhgef7	T	A	8: 11,874,701 (GRCm39)	Y777*	probably null	Het
Atad1	A	G	19: 32,679,934 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,268 (GRCm39)		probably null	Het
Bop1	A	G	15: 76,340,187 (GRCm39)	Y130H	probably damaging	Het
Ccar2	G	T	14: 70,379,384 (GRCm39)		probably benign	Het
Ccdc110	G	T	8: 46,396,001 (GRCm39)	E631*	probably null	Het
Cfap54	C	T	10: 92,871,319 (GRCm39)	D634N	probably damaging	Het
Cldn8	C	T	16: 88,359,246 (GRCm39)		silent	Het
Cstf3	G	T	2: 104,476,812 (GRCm39)		probably null	Het
Dgkq	T	C	5: 108,802,965 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,366,204 (GRCm39)	L546*	probably null	Het
Eif3g	A	T	9: 20,809,280 (GRCm39)		probably benign	Het
Fam228a	T	A	12: 4,785,018 (GRCm39)	I38F	probably damaging	Het
Fto	A	T	8: 92,128,518 (GRCm39)		probably benign	Het
Gcnt4	G	T	13: 97,083,018 (GRCm39)	V105L	probably benign	Het
Gm10644	A	G	8: 84,660,210 (GRCm39)	L45S	possibly damaging	Het
Gm7275	A	T	16: 47,894,132 (GRCm39)		noncoding transcript	Het
Gm7579	T	C	7: 141,766,112 (GRCm39)	S173P	unknown	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Grep1	A	T	17: 23,933,578 (GRCm39)		probably benign	Het
Hspb8	T	A	5: 116,547,532 (GRCm39)	D150V	probably damaging	Het
Ifitm1	T	C	7: 140,548,366 (GRCm39)		probably benign	Het
Ifnl2	T	C	7: 28,208,756 (GRCm39)	T99A	possibly damaging	Het
Ints4	T	C	7: 97,166,925 (GRCm39)	L577P	probably damaging	Het
Jph4	T	C	14: 55,351,467 (GRCm39)	E183G	possibly damaging	Het
Loxhd1	T	A	18: 77,471,526 (GRCm39)		probably null	Het
Mug1	G	A	6: 121,826,856 (GRCm39)		probably null	Het
Nlrp2	C	A	7: 5,320,629 (GRCm39)	C836F	probably damaging	Het
Nup210l	G	T	3: 90,039,616 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or51h1	A	T	7: 102,308,672 (GRCm39)	I215F	probably damaging	Het
Or7e178	A	G	9: 20,225,352 (GRCm39)	L288S	probably benign	Het
Phykpl	A	G	11: 51,477,502 (GRCm39)	E98G	probably benign	Het
Pikfyve	A	G	1: 65,303,558 (GRCm39)	N1648D	probably benign	Het
Plppr5	A	T	3: 117,465,581 (GRCm39)	R277S	probably benign	Het
Ptgis	A	T	2: 167,056,753 (GRCm39)	L278Q	probably damaging	Het
Rasa2	A	T	9: 96,488,229 (GRCm39)	F90Y	probably damaging	Het
Setd3	T	C	12: 108,073,838 (GRCm39)	K480E	probably benign	Het
Slc66a1	C	T	4: 139,027,610 (GRCm39)	S244N	possibly damaging	Het
Snx2	T	C	18: 53,345,983 (GRCm39)	F389L	probably benign	Het
Sulf2	G	A	2: 165,931,119 (GRCm39)	T296M	probably benign	Het
Supt16	A	T	14: 52,418,614 (GRCm39)	H214Q	probably damaging	Het
Tbx4	A	T	11: 85,789,356 (GRCm39)	M12L	probably benign	Het
Tlk1	A	T	2: 70,575,909 (GRCm39)		probably null	Het
Tmprss7	C	T	16: 45,501,001 (GRCm39)	V267M	probably benign	Het
Tmub2	G	A	11: 102,179,174 (GRCm39)	R291H	probably damaging	Het
Trpm2	A	T	10: 77,783,822 (GRCm39)	V217E	probably damaging	Het
Try10	T	A	6: 41,331,154 (GRCm39)	V10E	probably benign	Het
Ttn	A	G	2: 76,596,226 (GRCm39)	V20229A	probably benign	Het
Ttn	A	C	2: 76,608,538 (GRCm39)		probably null	Het
Usf2	T	A	7: 30,654,604 (GRCm39)	M199L	possibly damaging	Het
Usp37	A	T	1: 74,534,869 (GRCm39)	S26T	possibly damaging	Het
Vrk1	G	C	12: 106,024,884 (GRCm39)	Q253H	probably benign	Het
Wdr72	A	T	9: 74,064,534 (GRCm39)		probably null	Het
Xrra1	T	C	7: 99,525,449 (GRCm39)	F123L	probably damaging	Het
Zfhx3	T	C	8: 109,673,255 (GRCm39)	I1435T	probably damaging	Het
Zfp712	T	A	13: 67,188,877 (GRCm39)	H550L	probably damaging	Het

Other mutations in Ppp1r36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01585:Ppp1r36	APN	12	76,485,891 (GRCm39)	critical splice acceptor site	probably null
IGL01744:Ppp1r36	APN	12	76,486,006 (GRCm39)	missense	possibly damaging	0.83
IGL03295:Ppp1r36	APN	12	76,485,192 (GRCm39)	missense	probably damaging	0.97
R0099:Ppp1r36	UTSW	12	76,483,056 (GRCm39)	splice site	probably null
R0463:Ppp1r36	UTSW	12	76,465,741 (GRCm39)	missense	probably damaging	0.98
R0491:Ppp1r36	UTSW	12	76,486,065 (GRCm39)	missense	probably benign	0.01
R1664:Ppp1r36	UTSW	12	76,483,028 (GRCm39)	missense	possibly damaging	0.84
R2011:Ppp1r36	UTSW	12	76,465,700 (GRCm39)	critical splice acceptor site	probably null
R3918:Ppp1r36	UTSW	12	76,464,431 (GRCm39)	missense	probably benign	0.00
R5352:Ppp1r36	UTSW	12	76,474,857 (GRCm39)	missense	probably damaging	1.00
R5464:Ppp1r36	UTSW	12	76,474,852 (GRCm39)	critical splice acceptor site	probably null
R5490:Ppp1r36	UTSW	12	76,484,761 (GRCm39)	missense	possibly damaging	0.85
R5490:Ppp1r36	UTSW	12	76,484,760 (GRCm39)	missense	probably damaging	0.98
R5523:Ppp1r36	UTSW	12	76,484,892 (GRCm39)	missense	possibly damaging	0.71
R5844:Ppp1r36	UTSW	12	76,473,566 (GRCm39)	missense	possibly damaging	0.71
R5849:Ppp1r36	UTSW	12	76,485,931 (GRCm39)	missense	probably damaging	0.99
R5866:Ppp1r36	UTSW	12	76,473,579 (GRCm39)	missense	possibly damaging	0.71
R5996:Ppp1r36	UTSW	12	76,485,936 (GRCm39)	missense	possibly damaging	0.71
R6443:Ppp1r36	UTSW	12	76,464,413 (GRCm39)	missense	probably benign
R6612:Ppp1r36	UTSW	12	76,484,378 (GRCm39)	missense	possibly damaging	0.52
R6756:Ppp1r36	UTSW	12	76,474,696 (GRCm39)	missense	probably benign	0.28
R7896:Ppp1r36	UTSW	12	76,474,923 (GRCm39)	splice site	probably null
R7938:Ppp1r36	UTSW	12	76,485,180 (GRCm39)	missense	probably damaging	0.99
R8377:Ppp1r36	UTSW	12	76,485,215 (GRCm39)	missense	possibly damaging	0.86
R8468:Ppp1r36	UTSW	12	76,482,979 (GRCm39)	missense	probably damaging	0.98
R8784:Ppp1r36	UTSW	12	76,485,967 (GRCm39)	missense	probably benign	0.00
R9567:Ppp1r36	UTSW	12	76,485,900 (GRCm39)	missense	probably benign	0.06
R9720:Ppp1r36	UTSW	12	76,485,298 (GRCm39)	missense	possibly damaging	0.87
X0025:Ppp1r36	UTSW	12	76,473,584 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCAAGCCAATTCCCTGTGTATCTC -3'
(R):5'- AGATCCGCTGCATTTCAGTGTCC -3'

Sequencing Primer
(F):5'- ctgccctttccacaggac -3'
(R):5'- TCAGTGTCCTGGAGGGACAG -3'

Posted On

2013-05-09