Mutagenetix > Incidental Mutation

Incidental Mutation 'R6920:Ppp1r1a'

539609

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r1a

Ensembl Gene

ENSMUSG00000022490

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 1A

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6920 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103530279-103538003 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103533086 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 67 (S67P)

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: S67P

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

SMART Domains

Protein: ENSMUSP00000023133
Gene: ENSMUSG00000022490
AA Change: S67P

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: 99.1%
20x: 97.2%

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
1110002E22Rik	A	T	3: 138,068,050	Y1000F	probably damaging	Het
1700018B08Rik	A	G	8: 121,535,421		probably null	Het
Aadat	T	C	8: 60,529,433	F245L	probably damaging	Het
Adcy10	T	G	1: 165,575,658	L1575W	probably damaging	Het
Anks4b	A	T	7: 120,183,008	T421S	probably damaging	Het
Anpep	A	T	7: 79,825,349	I155N	probably damaging	Het
Arnt	T	C	3: 95,490,621	F572L	probably damaging	Het
Brip1	G	A	11: 86,148,536	Q391*	probably null	Het
Brpf3	C	A	17: 28,823,996	H1004N	probably benign	Het
Cand2	T	A	6: 115,791,289	V465D	possibly damaging	Het
Card10	G	T	15: 78,802,409	Y69*	probably null	Het
Catsperd	A	T	17: 56,655,175	K450*	probably null	Het
Ccdc137	T	C	11: 120,460,183	L137P	probably damaging	Het
Cic	T	C	7: 25,290,682	S1905P	probably damaging	Het
Csmd3	C	T	15: 47,644,205	G2971S	probably damaging	Het
Dmxl2	A	G	9: 54,472,212	Y183H	probably damaging	Het
Drosha	T	C	15: 12,834,310	Y167H	unknown	Het
E330034G19Rik	A	G	14: 24,308,242	K214R	unknown	Het
Fam180a	T	G	6: 35,313,830	I73L	possibly damaging	Het
Fbxo28	G	T	1: 182,341,421	H51N	probably benign	Het
Gm12728	T	G	4: 105,790,336		probably null	Het
Gm973	T	C	1: 59,552,461	C335R	possibly damaging	Het
Gpx8	A	G	13: 113,043,236	V177A	probably damaging	Het
Hdlbp	A	G	1: 93,412,361		probably null	Het
Htt	T	G	5: 34,877,100	Y1972D	probably null	Het
Igkv6-14	T	C	6: 70,435,132	Y56C	possibly damaging	Het
Kcnma1	A	G	14: 23,526,534		probably null	Het
Klc1	T	C	12: 111,787,585	S105P	probably damaging	Het
Klhl20	T	C	1: 161,093,696	D63G	possibly damaging	Het
Lamc3	A	G	2: 31,908,689	D469G	probably damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Mboat4	G	A	8: 34,124,711	R434H	probably benign	Het
Mttp	T	C	3: 138,115,282	K270E	possibly damaging	Het
Muc5ac	G	A	7: 141,793,298	C337Y	possibly damaging	Het
Nars	A	G	18: 64,501,400	V484A	probably damaging	Het
Noxa1	G	T	2: 25,091,832		probably null	Het
Olfr297	A	G	7: 86,527,314	T186A	probably benign	Het
Olfr830	T	A	9: 18,875,525	L63H	probably damaging	Het
Osbpl7	G	A	11: 97,050,758	G36S	probably damaging	Het
P4htm	C	T	9: 108,583,613	G220D	probably benign	Het
Pcdhga7	A	G	18: 37,715,146	I69V	probably benign	Het
Pla2g4e	C	T	2: 120,185,314	E250K	possibly damaging	Het
Plcd4	A	G	1: 74,565,835		probably benign	Het
Ppfia3	C	A	7: 45,358,807	G213V	possibly damaging	Het
Prss43	T	C	9: 110,828,612	F193S	probably benign	Het
Rfx1	A	G	8: 84,095,488	Y872C	probably damaging	Het
Rhot1	T	A	11: 80,242,095	N218K	probably benign	Het
Sall1	A	G	8: 89,030,393	F1028L	probably damaging	Het
Siglec1	G	A	2: 131,078,077	Q845*	probably null	Het
Slc38a9	C	T	13: 112,701,526	T275I	possibly damaging	Het
Slc39a4	A	T	15: 76,613,270	S481T	probably damaging	Het
Ssr1	A	T	13: 37,986,022	N191K	probably damaging	Het
Tenm4	A	T	7: 96,895,550	S2258C	probably damaging	Het
Tm7sf3	T	G	6: 146,606,147	R472S	possibly damaging	Het
Tmprss11a	G	A	5: 86,428,635	T119M	probably benign	Het
Traip	C	T	9: 107,961,041	R142*	probably null	Het
Utrn	T	C	10: 12,750,470	N100D	probably damaging	Het
Vmn1r74	T	C	7: 11,847,648	S292P	probably benign	Het
Vmn2r71	A	T	7: 85,623,900	I641F	probably damaging	Het
Vmn2r9	T	A	5: 108,849,046	Y119F	possibly damaging	Het
Vmn2r98	A	G	17: 19,065,248	N110S	probably damaging	Het
Vwce	A	G	19: 10,664,693	T928A	probably benign	Het
Zfp608	T	A	18: 54,988,265	K83N	probably damaging	Het
Zfp808	A	G	13: 62,173,168	H737R	probably benign	Het
Zswim4	T	C	8: 84,214,085	N795S	probably benign	Het

Other mutations in Ppp1r1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0133:Ppp1r1a	UTSW	15	103537820	missense	probably damaging	0.97
R0359:Ppp1r1a	UTSW	15	103533488	missense	probably damaging	1.00
R0422:Ppp1r1a	UTSW	15	103532356	missense	probably benign	0.01
R0732:Ppp1r1a	UTSW	15	103533087	missense	possibly damaging	0.75
R1676:Ppp1r1a	UTSW	15	103533488	missense	probably damaging	1.00
R1711:Ppp1r1a	UTSW	15	103533492	missense	possibly damaging	0.61
R1941:Ppp1r1a	UTSW	15	103533101	splice site	probably null
R2049:Ppp1r1a	UTSW	15	103531406	missense	probably damaging	0.98
R4049:Ppp1r1a	UTSW	15	103532454	missense	probably damaging	1.00
R4050:Ppp1r1a	UTSW	15	103532454	missense	probably damaging	1.00
R4914:Ppp1r1a	UTSW	15	103537838	missense	probably damaging	0.99
R5221:Ppp1r1a	UTSW	15	103533050	missense	probably damaging	1.00
R6592:Ppp1r1a	UTSW	15	103531372	missense	probably damaging	0.96
R7534:Ppp1r1a	UTSW	15	103532389	missense	probably benign	0.00
R7544:Ppp1r1a	UTSW	15	103531349	splice site	probably null
R8046:Ppp1r1a	UTSW	15	103537878	start codon destroyed	possibly damaging	0.79
R9777:Ppp1r1a	UTSW	15	103531430	missense	possibly damaging	0.93
X0028:Ppp1r1a	UTSW	15	103531415	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CAGGAGCCTTCTTCACATCG -3'
(R):5'- ACCAGTAGGACCTTTGATGTC -3'

Sequencing Primer
(F):5'- GGAGCCTTCTTCACATCGCAATAAC -3'
(R):5'- GACCTTTGATGTCCTCTTCTATGCAC -3'

Posted On

2018-11-06