Mutagenetix > Incidental Mutation

Incidental Mutation 'R0359:Ppp1r1a'

30022

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r1a

Ensembl Gene

ENSMUSG00000022490

Gene Name

protein phosphatase 1, regulatory inhibitor subunit 1A

Synonyms

inhibitor-1, 0610038N18Rik, protein phosphatase inhibitor-1, I-1

MMRRC Submission

038565-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0359 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103438706-103446430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103441915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 51 (D51V)

Ref Sequence

ENSEMBL: ENSMUSP00000023133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023132] [ENSMUST00000023133] [ENSMUST00000226468] [ENSMUST00000227955]

AlphaFold

Q9ERT9

Predicted Effect

probably benign
Transcript: ENSMUST00000023132

SMART Domains

Protein: ENSMUSP00000023132
Gene: ENSMUSG00000022489

Domain	Start	End	E-Value	Type
coiled coil region	38	60	N/A	INTRINSIC
Pfam:PDEase_I_N	76	136	1.2e-33	PFAM
HDc	219	383	8.77e-5	SMART
Blast:HDc	394	443	1e-20	BLAST
low complexity region	467	478	N/A	INTRINSIC
low complexity region	511	527	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000023133
AA Change: D51V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023133
Gene: ENSMUSG00000022490
AA Change: D51V

Domain	Start	End	E-Value	Type
Pfam:DARPP-32	2	165	2.2e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226468

Predicted Effect

probably benign
Transcript: ENSMUST00000227955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228813

Meta Mutation Damage Score

0.5890

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (65/65)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice show decreased long term poteniation, but normal performance in water maze tests. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
2310003L06Rik	A	T	5: 88,112,455 (GRCm39)		probably benign	Het
Abcb5	A	G	12: 118,904,067 (GRCm39)	S213P	probably damaging	Het
Agpat1	A	G	17: 34,829,551 (GRCm39)	I42V	probably benign	Het
Apoh	A	T	11: 108,288,199 (GRCm39)	I106F	probably damaging	Het
BB014433	G	T	8: 15,092,540 (GRCm39)	C104*	probably null	Het
Bsn	C	T	9: 107,989,045 (GRCm39)	G2236S	possibly damaging	Het
Casp9	A	G	4: 141,521,221 (GRCm39)	E19G	probably damaging	Het
Ces1g	T	C	8: 94,055,163 (GRCm39)		probably benign	Het
Cfap65	T	A	1: 74,959,760 (GRCm39)	M797L	probably benign	Het
Col14a1	A	G	15: 55,271,264 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col27a1	G	T	4: 63,232,964 (GRCm39)		probably null	Het
Col6a4	T	A	9: 105,874,345 (GRCm39)	H2214L	probably benign	Het
Ctu2	T	G	8: 123,204,932 (GRCm39)	S72R	probably damaging	Het
Cyp24a1	T	A	2: 170,333,619 (GRCm39)	M245L	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Diaph3	T	C	14: 87,206,938 (GRCm39)	R501G	probably benign	Het
Dip2b	A	G	15: 100,109,874 (GRCm39)	D1453G	probably damaging	Het
Dnah2	G	A	11: 69,420,357 (GRCm39)	T119M	probably benign	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Farp1	A	T	14: 121,492,808 (GRCm39)		probably benign	Het
Fcsk	T	C	8: 111,619,891 (GRCm39)		probably null	Het
Foxf1	T	C	8: 121,811,742 (GRCm39)	V202A	possibly damaging	Het
Fras1	G	A	5: 96,910,449 (GRCm39)	V3293I	probably damaging	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Gclm	T	C	3: 122,049,269 (GRCm39)		probably benign	Het
Gemin4	G	A	11: 76,102,988 (GRCm39)	T591M	probably benign	Het
Glrx3	T	C	7: 137,055,214 (GRCm39)	S119P	possibly damaging	Het
Gm16485	G	T	9: 8,972,437 (GRCm39)		probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hs6st1	G	A	1: 36,108,266 (GRCm39)		probably null	Het
Kpna2	A	G	11: 106,882,148 (GRCm39)	L226S	probably damaging	Het
Myom3	G	A	4: 135,505,454 (GRCm39)	V448M	probably damaging	Het
Nalcn	A	G	14: 123,536,580 (GRCm39)	S1224P	probably damaging	Het
Or52n2	A	T	7: 104,542,521 (GRCm39)	F105I	probably damaging	Het
Or56b1b	C	T	7: 108,164,721 (GRCm39)	D94N	probably benign	Het
Or7a38	A	G	10: 78,753,177 (GRCm39)	T168A	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pot1a	G	A	6: 25,771,679 (GRCm39)		probably benign	Het
Ppfia1	T	C	7: 144,038,929 (GRCm39)	D494G	probably damaging	Het
Ptprz1	T	A	6: 22,973,175 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,911,704 (GRCm39)	V61D	probably damaging	Het
Reln	G	A	5: 22,253,798 (GRCm39)	L605F	probably damaging	Het
Riok3	T	C	18: 12,282,006 (GRCm39)	I325T	probably damaging	Het
Sclt1	A	T	3: 41,616,005 (GRCm39)		probably null	Het
Slc25a39	A	G	11: 102,297,395 (GRCm39)	V24A	possibly damaging	Het
Slc9a3	T	G	13: 74,305,726 (GRCm39)	S248A	probably damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Spen	T	C	4: 141,244,181 (GRCm39)	S285G	unknown	Het
Stxbp5l	A	G	16: 37,036,440 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,352,030 (GRCm39)	P1055L	probably damaging	Het
Tmed3	C	T	9: 89,581,842 (GRCm39)	S207N	possibly damaging	Het
Trerf1	G	T	17: 47,652,062 (GRCm39)		noncoding transcript	Het
Triml1	A	T	8: 43,583,542 (GRCm39)	V353E	probably damaging	Het
Ttn	G	A	2: 76,549,401 (GRCm39)	R31759C	probably damaging	Het
Ugt2b37	T	C	5: 87,398,443 (GRCm39)	Q331R	probably benign	Het
Urb1	A	G	16: 90,588,048 (GRCm39)	I420T	probably damaging	Het
Vmn1r68	A	T	7: 10,261,201 (GRCm39)	L299Q	probably damaging	Het
Vmn1r81	T	A	7: 11,993,877 (GRCm39)	T244S	probably damaging	Het
Vps13a	A	G	19: 16,618,941 (GRCm39)	F2875S	probably damaging	Het
Wscd1	A	G	11: 71,657,692 (GRCm39)	M166V	probably damaging	Het
Zfp296	T	C	7: 19,313,864 (GRCm39)	Y240H	possibly damaging	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably damaging	Het

Other mutations in Ppp1r1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0133:Ppp1r1a	UTSW	15	103,446,247 (GRCm39)	missense	probably damaging	0.97
R0422:Ppp1r1a	UTSW	15	103,440,783 (GRCm39)	missense	probably benign	0.01
R0732:Ppp1r1a	UTSW	15	103,441,514 (GRCm39)	missense	possibly damaging	0.75
R1676:Ppp1r1a	UTSW	15	103,441,915 (GRCm39)	missense	probably damaging	1.00
R1711:Ppp1r1a	UTSW	15	103,441,919 (GRCm39)	missense	possibly damaging	0.61
R1941:Ppp1r1a	UTSW	15	103,441,528 (GRCm39)	splice site	probably null
R2049:Ppp1r1a	UTSW	15	103,439,833 (GRCm39)	missense	probably damaging	0.98
R4049:Ppp1r1a	UTSW	15	103,440,881 (GRCm39)	missense	probably damaging	1.00
R4050:Ppp1r1a	UTSW	15	103,440,881 (GRCm39)	missense	probably damaging	1.00
R4914:Ppp1r1a	UTSW	15	103,446,265 (GRCm39)	missense	probably damaging	0.99
R5221:Ppp1r1a	UTSW	15	103,441,477 (GRCm39)	missense	probably damaging	1.00
R6592:Ppp1r1a	UTSW	15	103,439,799 (GRCm39)	missense	probably damaging	0.96
R6920:Ppp1r1a	UTSW	15	103,441,513 (GRCm39)	missense	probably damaging	1.00
R7534:Ppp1r1a	UTSW	15	103,440,816 (GRCm39)	missense	probably benign	0.00
R7544:Ppp1r1a	UTSW	15	103,439,776 (GRCm39)	splice site	probably null
R8046:Ppp1r1a	UTSW	15	103,446,305 (GRCm39)	start codon destroyed	possibly damaging	0.79
R9777:Ppp1r1a	UTSW	15	103,439,857 (GRCm39)	missense	possibly damaging	0.93
X0028:Ppp1r1a	UTSW	15	103,439,842 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GAGCTTGGAGACAGTGTATGATGGC -3'
(R):5'- GGACCCTGACCAGAATGAGTTTGC -3'

Sequencing Primer
(F):5'- CATCAAAGGTCCTACTGGTGAG -3'
(R):5'- aaacaaaaacaaaaacaaaaacGCC -3'

Posted On

2013-04-24