Mutagenetix > Incidental Mutation

Incidental Mutation 'R3546:Ppp1r27'

268210

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r27

Ensembl Gene

ENSMUSG00000025129

Gene Name

protein phosphatase 1, regulatory subunit 27

Synonyms

Dysfip1, toonin, 1110033I14Rik

MMRRC Submission

040665-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R3546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120440805-120441958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120441511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 90 (I90F)

Ref Sequence

ENSEMBL: ENSMUSP00000026121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026121] [ENSMUST00000034913]

AlphaFold

Q9D119

Predicted Effect

probably damaging
Transcript: ENSMUST00000026121
AA Change: I90F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026121
Gene: ENSMUSG00000025129
AA Change: I90F

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
ANK	63	92	1.64e-5	SMART
ANK	96	125	3.1e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000034913

SMART Domains

Protein: ENSMUSP00000034913
Gene: ENSMUSG00000061111

Domain	Start	End	E-Value	Type
Pfam:FAM195	4	94	3.3e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135515

Meta Mutation Damage Score

0.6303

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,668,926 (GRCm39)		probably benign	Het
Bves	A	G	10: 45,230,907 (GRCm39)	R293G	probably damaging	Het
Ceacam1	T	C	7: 25,171,339 (GRCm39)	N375S	probably benign	Het
Celf3	T	G	3: 94,395,845 (GRCm39)	C304G	probably damaging	Het
Clcc1	T	A	3: 108,575,429 (GRCm39)	C169S	probably benign	Het
Cyth1	A	G	11: 118,083,262 (GRCm39)	V46A	probably damaging	Het
Ddx23	G	A	15: 98,548,613 (GRCm39)	T365M	probably damaging	Het
Etaa1	A	G	11: 17,903,823 (GRCm39)		probably benign	Het
Fap	A	C	2: 62,349,355 (GRCm39)	L478R	probably damaging	Het
Golga7b	T	C	19: 42,255,510 (GRCm39)	M129T	possibly damaging	Het
Hdac7	G	T	15: 97,705,890 (GRCm39)	Q361K	probably damaging	Het
Itk	A	G	11: 46,246,675 (GRCm39)	L181P	probably benign	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Khdc4	A	G	3: 88,600,443 (GRCm39)		probably benign	Het
Lrp1b	A	T	2: 40,490,300 (GRCm39)	L287H	probably damaging	Het
Mei1	A	G	15: 81,982,243 (GRCm39)	Y677C	probably damaging	Het
Mslnl	T	C	17: 25,963,943 (GRCm39)	V424A	probably damaging	Het
Nbeal1	T	C	1: 60,317,939 (GRCm39)	F1959L	probably damaging	Het
Nlrp6	T	G	7: 140,506,682 (GRCm39)	V849G	probably benign	Het
Or6b13	A	G	7: 139,782,014 (GRCm39)	I223T	probably damaging	Het
Pdilt	C	A	7: 119,099,711 (GRCm39)	E186*	probably null	Het
Reln	A	G	5: 22,432,598 (GRCm39)	V134A	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc16a7	T	A	10: 125,130,569 (GRCm39)	K39*	probably null	Het
Sult6b1	G	A	17: 79,214,336 (GRCm39)	T29I	probably benign	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Ttn	T	A	2: 76,575,450 (GRCm39)	I25148F	probably damaging	Het
Ush1g	T	A	11: 115,209,723 (GRCm39)	H157L	probably damaging	Het
Utp20	T	C	10: 88,618,551 (GRCm39)	K1150E	probably damaging	Het
Vmn1r7	A	G	6: 57,001,834 (GRCm39)	I142T	possibly damaging	Het

Other mutations in Ppp1r27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3547:Ppp1r27	UTSW	11	120,441,511 (GRCm39)	missense	probably damaging	0.99
R3917:Ppp1r27	UTSW	11	120,441,785 (GRCm39)	missense	possibly damaging	0.89
R4640:Ppp1r27	UTSW	11	120,441,553 (GRCm39)	missense	possibly damaging	0.79
R5305:Ppp1r27	UTSW	11	120,441,743 (GRCm39)	missense	probably benign	0.41
R7574:Ppp1r27	UTSW	11	120,441,856 (GRCm39)	nonsense	probably null
R9004:Ppp1r27	UTSW	11	120,441,849 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGCTGTGGCCAGATTTTCCG -3'
(R):5'- TAACTGAGAGTCTGGCCTTCTG -3'

Sequencing Primer
(F):5'- TAGAAACTGCCAGAATCCCTGAGTTG -3'
(R):5'- CTTCTGTCCATAAGGAGGCAG -3'

Posted On

2015-02-19