Mutagenetix > Incidental Mutation

Incidental Mutation 'R0422:Ppp1r1a'

37155

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

038624-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103438706-103446430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103440783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 125 (S125P)

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: S125P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000023133
Gene: ENSMUSG00000022490
AA Change: S125P

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	A	7: 119,372,963 (GRCm39)	Y155*	probably null	Het
Adamts16	A	G	13: 70,887,074 (GRCm39)	C937R	probably damaging	Het
Akna	T	C	4: 63,310,391 (GRCm39)	D451G	probably damaging	Het
Alox12	A	T	11: 70,145,384 (GRCm39)	V63E	probably damaging	Het
Ap3b1	T	C	13: 94,598,968 (GRCm39)	I514T	probably damaging	Het
Arhgap23	T	C	11: 97,354,478 (GRCm39)	M286T	probably damaging	Het
Cdkl2	T	C	5: 92,168,171 (GRCm39)	D341G	probably benign	Het
Clip2	T	C	5: 134,526,967 (GRCm39)	D813G	probably benign	Het
Cntnap3	A	G	13: 64,905,099 (GRCm39)	V894A	probably damaging	Het
Coro2b	T	A	9: 62,335,259 (GRCm39)	Y304F	probably benign	Het
Dclre1a	T	A	19: 56,532,567 (GRCm39)	K676*	probably null	Het
Dmxl2	A	G	9: 54,307,224 (GRCm39)		probably null	Het
Dpep3	A	G	8: 106,702,750 (GRCm39)		probably null	Het
Efna5	C	T	17: 62,914,414 (GRCm39)	A177T	probably benign	Het
Fabp1	G	A	6: 71,180,077 (GRCm39)	V83I	possibly damaging	Het
H2-DMa	G	T	17: 34,356,921 (GRCm39)	G140C	probably damaging	Het
Hectd4	T	A	5: 121,481,145 (GRCm39)		probably null	Het
Hyou1	T	A	9: 44,300,539 (GRCm39)	N869K	probably damaging	Het
Ing1	G	A	8: 11,611,933 (GRCm39)	V124I	probably damaging	Het
Kalrn	T	A	16: 34,134,643 (GRCm39)	I380F	probably damaging	Het
Kcnh1	A	G	1: 192,019,888 (GRCm39)	I378V	probably benign	Het
Kmt2c	A	G	5: 25,520,662 (GRCm39)	V1816A	probably benign	Het
Matn2	G	A	15: 34,435,917 (GRCm39)		probably null	Het
Naip2	C	T	13: 100,297,621 (GRCm39)	S805N	probably benign	Het
Napsa	A	C	7: 44,234,530 (GRCm39)	Q254P	probably damaging	Het
Nat10	G	T	2: 103,557,074 (GRCm39)	S860*	probably null	Het
Nipbl	T	C	15: 8,381,112 (GRCm39)	D560G	probably benign	Het
Nr3c2	A	G	8: 77,912,596 (GRCm39)	M736V	probably benign	Het
Or4k44	A	T	2: 111,368,328 (GRCm39)	F102Y	probably damaging	Het
Or7e174	A	T	9: 20,012,744 (GRCm39)	R230*	probably null	Het
Or8u8	A	T	2: 86,011,566 (GRCm39)	D296E	probably benign	Het
Palm3	A	G	8: 84,755,492 (GRCm39)	S335G	possibly damaging	Het
Panx1	G	T	9: 14,919,112 (GRCm39)	S249*	probably null	Het
Parvb	A	G	15: 84,179,812 (GRCm39)	T231A	probably benign	Het
Pcdhb11	G	T	18: 37,554,923 (GRCm39)	L84F	probably damaging	Het
Pi4k2b	T	C	5: 52,925,096 (GRCm39)	*447Q	probably null	Het
Prss1	T	A	6: 41,440,246 (GRCm39)	D194E	probably damaging	Het
Rnf216	A	T	5: 143,001,409 (GRCm39)	C772*	probably null	Het
Rnf216	A	T	5: 143,076,125 (GRCm39)	F253Y	probably benign	Het
Rsf1	A	T	7: 97,330,024 (GRCm39)	E1183D	probably benign	Het
Rusc1	T	C	3: 88,994,132 (GRCm39)	T958A	probably benign	Het
Rxfp1	A	G	3: 79,558,038 (GRCm39)	M480T	probably benign	Het
Slc22a16	T	A	10: 40,467,886 (GRCm39)	V473E	probably damaging	Het
Slc26a3	A	G	12: 31,515,848 (GRCm39)	T583A	possibly damaging	Het
Slc7a15	T	C	12: 8,584,400 (GRCm39)	T117A	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Slitrk6	T	A	14: 110,989,725 (GRCm39)		probably benign	Het
Spata31g1	T	C	4: 42,972,199 (GRCm39)	S511P	possibly damaging	Het
Spata7	A	G	12: 98,624,524 (GRCm39)	Y110C	probably damaging	Het
Supt16	T	A	14: 52,421,453 (GRCm39)	I31F	probably benign	Het
Taar7a	T	C	10: 23,869,172 (GRCm39)	T70A	probably benign	Het
Top2a	A	G	11: 98,900,679 (GRCm39)	F594L	probably damaging	Het
Unc13d	C	T	11: 115,960,846 (GRCm39)		probably null	Het
Unc80	T	G	1: 66,522,497 (GRCm39)	V233G	probably damaging	Het
Wdr91	A	T	6: 34,857,781 (GRCm39)	D735E	probably damaging	Het
Zzef1	A	G	11: 72,756,917 (GRCm39)	T1141A	possibly 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
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'- GGAATACACCCATGTCCTTGACTGG -3'
(R):5'- AGTGTCTTCTGCACTGAAAGGCTC -3'

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

Posted On

2013-05-09