Mutagenetix > Incidental Mutation

Incidental Mutation 'R7534:Ppp1r1a'

583472

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

045606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7534 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103438706-103446430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103440816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 114 (C114R)

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 benign
Transcript: ENSMUST00000023133
AA Change: C114R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000023133
Gene: ENSMUSG00000022490
AA Change: C114R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	A	C	17: 35,390,390 (GRCm39)	M120R	possibly damaging	Het
Ank2	T	C	3: 126,727,982 (GRCm39)		probably null	Het
Ankrd11	A	T	8: 123,621,149 (GRCm39)	I901N	probably damaging	Het
Apc	T	C	18: 34,450,015 (GRCm39)	S2304P	probably damaging	Het
AW551984	A	T	9: 39,502,777 (GRCm39)	C632S	probably benign	Het
Bicra	T	C	7: 15,705,860 (GRCm39)	N1527S	probably damaging	Het
Cacna1d	A	G	14: 29,801,319 (GRCm39)	L1363P	probably damaging	Het
Cacna1g	G	A	11: 94,301,904 (GRCm39)	P2037S	probably benign	Het
Cdc27	A	G	11: 104,399,240 (GRCm39)	L724S	probably damaging	Het
Cttnbp2	C	T	6: 18,420,764 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,421,580 (GRCm39)	A280V	probably benign	Het
Dclk3	G	A	9: 111,297,286 (GRCm39)	G277R	probably benign	Het
Ddr1	A	G	17: 35,993,514 (GRCm39)		probably null	Het
Dnah7c	A	C	1: 46,809,227 (GRCm39)	D3515A	probably damaging	Het
Elovl4	G	A	9: 83,672,172 (GRCm39)	T49M	probably damaging	Het
Fam13b	A	T	18: 34,631,060 (GRCm39)	F40I	probably damaging	Het
Fancd2os	T	C	6: 113,574,601 (GRCm39)	H135R	probably benign	Het
Fer1l6	A	G	15: 58,509,875 (GRCm39)	I1446V	probably damaging	Het
Fyb2	T	A	4: 104,856,545 (GRCm39)	Y584*	probably null	Het
Galnt16	A	T	12: 80,643,909 (GRCm39)	L442F	probably damaging	Het
Garem1	T	A	18: 21,432,973 (GRCm39)		probably benign	Het
Ggta1	C	T	2: 35,292,440 (GRCm39)	R289Q	probably damaging	Het
Gm11564	T	C	11: 99,706,347 (GRCm39)	T28A	unknown	Het
Hcn1	A	G	13: 118,111,961 (GRCm39)	T642A	unknown	Het
Hhat	A	T	1: 192,408,612 (GRCm39)	L173H	probably damaging	Het
Hook1	T	G	4: 95,905,834 (GRCm39)	I585S	probably benign	Het
Ighg1	A	T	12: 113,293,349 (GRCm39)	S114T		Het
Kmt2d	G	A	15: 98,749,899 (GRCm39)	P2598L	unknown	Het
Macc1	A	T	12: 119,411,254 (GRCm39)	H674L	probably benign	Het
Mypn	T	C	10: 63,028,910 (GRCm39)	E51G	probably benign	Het
Or2n1	T	A	17: 38,486,188 (GRCm39)	M71K	probably benign	Het
Or7e170	A	G	9: 19,795,472 (GRCm39)	V43A	probably benign	Het
Or9g3	A	C	2: 85,589,803 (GRCm39)	L306V	probably benign	Het
Pnliprp2	T	A	19: 58,763,574 (GRCm39)	S408T	probably benign	Het
Ppara	A	C	15: 85,661,927 (GRCm39)	Y56S	probably benign	Het
Pycard	C	T	7: 127,592,657 (GRCm39)	V57I	probably damaging	Het
Relch	G	A	1: 105,668,748 (GRCm39)	R993Q	probably benign	Het
Rin3	T	G	12: 102,317,200 (GRCm39)	Y143D	unknown	Het
Slc12a7	A	G	13: 73,912,187 (GRCm39)		probably benign	Het
Slitrk3	C	T	3: 72,957,440 (GRCm39)	R444H	probably damaging	Het
Ttf2	C	T	3: 100,857,728 (GRCm39)		probably null	Het
Ufsp2	T	A	8: 46,433,361 (GRCm39)	I25N	probably benign	Het
Uqcrc2	A	G	7: 120,240,912 (GRCm39)	T115A	possibly damaging	Het
Vmn2r43	T	A	7: 8,258,230 (GRCm39)	R328*	probably null	Het
Vmn2r8	T	A	5: 108,950,040 (GRCm39)	Y269F	possibly damaging	Het
Zbtb5	T	C	4: 44,995,030 (GRCm39)	Y118C	probably damaging	Het
Zeb1	T	C	18: 5,766,611 (GRCm39)	V374A	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
R0359:Ppp1r1a	UTSW	15	103,441,915 (GRCm39)	missense	probably damaging	1.00
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
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'- TCCTTGACTGGGCTTTTAGC -3'
(R):5'- CCAGTTCTGGGAAATTAAAGCAC -3'

Sequencing Primer
(F):5'- GACTGGGCTTTTAGCTATTATTCCAC -3'
(R):5'- CCAATGGTGGGACTAGTGAATTTAG -3'

Posted On

2019-10-17