Mutagenetix > Incidental Mutation

Incidental Mutation 'R5990:Ppp1r9a'

481936

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r9a

Ensembl Gene

ENSMUSG00000032827

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 9A

Synonyms

A230094E16Rik, Neurabin I, 2810430P21Rik, neurabin-I, NRB, 4930518N04Rik

MMRRC Submission

044170-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.533) question?

Stock #

R5990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4902917-5165661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5134660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 928 (H928N)

Ref Sequence

ENSEMBL: ENSMUSP00000135485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035813] [ENSMUST00000175889] [ENSMUST00000176263] [ENSMUST00000176729] [ENSMUST00000177153] [ENSMUST00000177456]

AlphaFold

H3BJD6

Predicted Effect

probably benign
Transcript: ENSMUST00000035813

SMART Domains

Protein: ENSMUSP00000046906
Gene: ENSMUSG00000032827

Domain	Start	End	E-Value	Type
low complexity region	416	435	N/A	INTRINSIC
PDZ	513	593	4.26e-18	SMART
low complexity region	608	620	N/A	INTRINSIC
Blast:PDZ	741	778	5e-15	BLAST
low complexity region	784	798	N/A	INTRINSIC
SAM	986	1052	6.41e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164110

Predicted Effect

probably benign
Transcript: ENSMUST00000175889

SMART Domains

Protein: ENSMUSP00000135629
Gene: ENSMUSG00000032827

Domain	Start	End	E-Value	Type
low complexity region	416	435	N/A	INTRINSIC
PDZ	513	593	4.26e-18	SMART
low complexity region	608	620	N/A	INTRINSIC
Blast:PDZ	741	778	2e-15	BLAST
low complexity region	784	798	N/A	INTRINSIC
SAM	986	1041	1.72e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176263
AA Change: H950N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134937
Gene: ENSMUSG00000032827
AA Change: H950N

Domain	Start	End	E-Value	Type
low complexity region	416	435	N/A	INTRINSIC
PDZ	513	593	4.26e-18	SMART
low complexity region	608	620	N/A	INTRINSIC
low complexity region	643	649	N/A	INTRINSIC
Blast:PDZ	763	800	2e-15	BLAST
low complexity region	806	820	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176729

SMART Domains

Protein: ENSMUSP00000134909
Gene: ENSMUSG00000032827

Domain	Start	End	E-Value	Type
low complexity region	96	115	N/A	INTRINSIC
PDB:3HVQ\|D	116	232	4e-79	PDB
SCOP:d1be9a_	174	232	5e-9	SMART
Blast:PDZ	193	232	1e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000177153
AA Change: H928N

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000135485
Gene: ENSMUSG00000032827
AA Change: H928N

Domain	Start	End	E-Value	Type
low complexity region	416	435	N/A	INTRINSIC
PDZ	513	593	4.26e-18	SMART
low complexity region	608	620	N/A	INTRINSIC
Blast:PDZ	741	778	2e-15	BLAST
low complexity region	784	798	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177456

SMART Domains

Protein: ENSMUSP00000134943
Gene: ENSMUSG00000032827

Domain	Start	End	E-Value	Type
low complexity region	416	435	N/A	INTRINSIC
PDZ	513	593	4.26e-18	SMART
low complexity region	608	620	N/A	INTRINSIC
Blast:PDZ	741	778	2e-15	BLAST
low complexity region	784	798	N/A	INTRINSIC
low complexity region	966	987	N/A	INTRINSIC
low complexity region	1040	1049	N/A	INTRINSIC
low complexity region	1103	1114	N/A	INTRINSIC
SAM	1183	1249	6.41e-16	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in dopamine-mediated neuromodulation, deficient long-term potentiation at corticostriatal synapses, increased spontaneous excitatory post-synaptic current frequency, and enhanced locomotor activationin response to cocaine treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	T	10: 76,449,289	M11L	probably benign	Het
Acad10	A	G	5: 121,645,405	L319P	probably damaging	Het
Adam12	C	A	7: 133,931,736	C471F	probably damaging	Het
Arfgef1	A	G	1: 10,172,921	Y1065H	probably damaging	Het
Atp8b3	G	A	10: 80,525,697	T797M	possibly damaging	Het
Auts2	G	A	5: 131,476,895		probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Ccdc146	A	G	5: 21,318,182	S286P	probably benign	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Cmtr1	T	C	17: 29,702,161	Y794H	probably benign	Het
Copb2	A	G	9: 98,570,325	E54G	probably damaging	Het
Ctsk	A	T	3: 95,501,456	H77L	probably damaging	Het
Dnah3	T	C	7: 120,073,541	Y546C	probably benign	Het
Ephb2	A	T	4: 136,696,055	V304E	probably benign	Het
Ern1	C	T	11: 106,411,769	V420I	probably benign	Het
Esrrg	A	T	1: 188,198,798	E339V	probably damaging	Het
Fbxo10	A	C	4: 45,061,960	F189V	probably damaging	Het
Foxl1	G	T	8: 121,128,421	A154S	probably damaging	Het
Frs3	A	G	17: 47,701,677	D103G	possibly damaging	Het
Gdpd4	A	G	7: 98,040,930	T610A	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm4847	C	T	1: 166,643,373	S36N	probably benign	Het
Grm8	G	T	6: 27,363,624	L631I	probably damaging	Het
Ints9	T	A	14: 65,039,328	L648Q	probably damaging	Het
Kansl1l	T	C	1: 66,735,726	H647R	probably damaging	Het
Kcnq1	T	A	7: 143,261,368	H501Q	probably damaging	Het
Kctd20	T	C	17: 28,966,910	L409P	probably benign	Het
Kiss1r	A	G	10: 79,918,707	T12A	probably benign	Het
Kndc1	T	A	7: 139,927,420	V1173E	probably damaging	Het
Kprp	T	C	3: 92,824,774	E323G	probably damaging	Het
Krtap10-4	A	T	10: 77,826,607		probably benign	Het
Lrrc37a	A	G	11: 103,500,958	Y1214H	probably benign	Het
Lysmd3	G	A	13: 81,669,588	G228D	probably damaging	Het
Muc16	G	A	9: 18,659,243	A660V	unknown	Het
Muc5b	T	C	7: 141,858,161	C1615R	unknown	Het
Nans	A	T	4: 46,489,441	N28I	probably damaging	Het
Nlrp4b	C	T	7: 10,714,491	S207L	possibly damaging	Het
Nrd1	T	G	4: 109,019,071	F355V	probably damaging	Het
Nrip2	C	T	6: 128,400,016		probably benign	Het
Nufip1	C	T	14: 76,114,188	P161L	probably damaging	Het
Ogdhl	C	T	14: 32,327,114	H114Y	possibly damaging	Het
Olfr1295	T	A	2: 111,564,674	I257F	probably damaging	Het
Olfr160	G	T	9: 37,712,110	H56Q	probably damaging	Het
Opa1	T	A	16: 29,587,018	W134R	probably damaging	Het
Parp14	G	A	16: 35,841,457	P1403S	probably benign	Het
Patl2	T	C	2: 122,124,484	D361G	probably damaging	Het
Pcx	A	G	19: 4,621,266	D1172G	probably damaging	Het
Phax	A	G	18: 56,575,603	T58A	probably benign	Het
Phf11b	T	A	14: 59,324,926	I177L	possibly damaging	Het
Pole	T	A	5: 110,302,144	V819D	probably damaging	Het
Poll	T	C	19: 45,553,155	D458G	possibly damaging	Het
Polr2m	G	A	9: 71,479,320		probably null	Het
Prdm2	T	C	4: 143,170,113	N102D	probably damaging	Het
Rbm45	A	T	2: 76,370,412	D95V	probably benign	Het
Rdh19	A	G	10: 127,859,594	M226V	probably benign	Het
Rev3l	T	G	10: 39,823,811	S1435A	probably benign	Het
Rgs20	A	G	1: 4,912,330	I305T	probably benign	Het
Rhobtb2	T	C	14: 69,796,369	N469S	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rps6ka1	A	G	4: 133,866,397	I177T	probably damaging	Het
Samd12	T	A	15: 53,719,623	D105V	probably damaging	Het
Setd3	A	T	12: 108,160,335	D88E	probably benign	Het
Sfmbt2	G	T	2: 10,579,381	V850L	possibly damaging	Het
Slc26a10	C	A	10: 127,178,758	A195S	possibly damaging	Het
Smcp	C	A	3: 92,584,250	A97S	unknown	Het
Stxbp5	G	A	10: 9,835,933	H248Y	probably damaging	Het
Syne2	T	C	12: 76,024,144	L4457P	probably benign	Het
Tbx3	A	G	5: 119,680,529	T390A	probably benign	Het
Tmeff2	G	A	1: 50,979,442	W194*	probably null	Het
Tmem120b	G	A	5: 123,104,481	R174Q	probably damaging	Het
Trio	A	G	15: 27,891,459	V402A	probably benign	Het
Ttll2	C	A	17: 7,352,367	G54W	possibly damaging	Het
Uba7	G	A	9: 107,981,234	V786M	probably damaging	Het
Vmn2r32	T	C	7: 7,479,810	E55G	probably damaging	Het
Wdr35	A	G	12: 9,016,511	D724G	probably damaging	Het
Xrcc1	G	A	7: 24,567,868	V381M	probably damaging	Het
Zdhhc11	T	A	13: 73,979,184	W227R	probably benign	Het
Zfp341	T	C	2: 154,645,659	S681P	probably damaging	Het
Zfp735	T	A	11: 73,690,348	D70E	possibly damaging	Het
Zmat4	G	A	8: 23,929,263	A104T	probably damaging	Het

Other mutations in Ppp1r9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Ppp1r9a	APN	6	5158195	missense	possibly damaging	0.72
IGL00796:Ppp1r9a	APN	6	5157014	missense	probably benign	0.37
IGL00906:Ppp1r9a	APN	6	5157023	missense	possibly damaging	0.62
IGL01662:Ppp1r9a	APN	6	5115322	missense	probably damaging	1.00
IGL01695:Ppp1r9a	APN	6	5064003	missense	probably damaging	1.00
IGL01807:Ppp1r9a	APN	6	5158248	nonsense	probably null
IGL02126:Ppp1r9a	APN	6	5156229	missense	probably damaging	1.00
IGL02423:Ppp1r9a	APN	6	4906537	missense	probably benign	0.25
IGL03343:Ppp1r9a	APN	6	5046015	missense	probably damaging	1.00
IGL03365:Ppp1r9a	APN	6	5110993	splice site	probably benign
R0545:Ppp1r9a	UTSW	6	5115357	missense	probably benign	0.45
R1126:Ppp1r9a	UTSW	6	4906795	missense	possibly damaging	0.93
R1137:Ppp1r9a	UTSW	6	5159697	missense	possibly damaging	0.46
R1443:Ppp1r9a	UTSW	6	5057557	missense	probably damaging	1.00
R1484:Ppp1r9a	UTSW	6	5113712	nonsense	probably null
R1545:Ppp1r9a	UTSW	6	5156242	critical splice donor site	probably null
R1627:Ppp1r9a	UTSW	6	4906168	missense	possibly damaging	0.50
R1672:Ppp1r9a	UTSW	6	5143491	critical splice donor site	probably null
R1826:Ppp1r9a	UTSW	6	5111060	splice site	probably benign
R1834:Ppp1r9a	UTSW	6	5113710	missense	probably damaging	0.98
R1874:Ppp1r9a	UTSW	6	4906348	missense	possibly damaging	0.87
R2224:Ppp1r9a	UTSW	6	5154074	missense	probably benign
R2227:Ppp1r9a	UTSW	6	5154074	missense	probably benign
R2898:Ppp1r9a	UTSW	6	4906558	missense	probably benign	0.01
R3606:Ppp1r9a	UTSW	6	5113674	missense	possibly damaging	0.90
R3732:Ppp1r9a	UTSW	6	4906259	unclassified	probably benign
R3927:Ppp1r9a	UTSW	6	5057531	missense	probably damaging	1.00
R4631:Ppp1r9a	UTSW	6	4906537	missense	possibly damaging	0.62
R4682:Ppp1r9a	UTSW	6	4905477	missense	possibly damaging	0.48
R4766:Ppp1r9a	UTSW	6	5157016	missense	probably benign	0.11
R5197:Ppp1r9a	UTSW	6	5156177	missense	probably damaging	1.00
R5217:Ppp1r9a	UTSW	6	5115367	missense	probably damaging	1.00
R5493:Ppp1r9a	UTSW	6	5159702	missense	probably damaging	0.99
R5790:Ppp1r9a	UTSW	6	5134363	intron	probably benign
R5828:Ppp1r9a	UTSW	6	5158200	missense	probably damaging	1.00
R5896:Ppp1r9a	UTSW	6	5159648	missense	probably damaging	1.00
R5930:Ppp1r9a	UTSW	6	5157002	critical splice acceptor site	probably null
R6017:Ppp1r9a	UTSW	6	4906363	missense	probably benign	0.18
R6122:Ppp1r9a	UTSW	6	4905509	missense	probably damaging	1.00
R6164:Ppp1r9a	UTSW	6	5110715	intron	probably benign
R6175:Ppp1r9a	UTSW	6	4905639	nonsense	probably null
R6188:Ppp1r9a	UTSW	6	5158113	nonsense	probably null
R6233:Ppp1r9a	UTSW	6	5077610	missense	probably damaging	1.00
R6321:Ppp1r9a	UTSW	6	5115151	missense	probably damaging	1.00
R6449:Ppp1r9a	UTSW	6	5057458	missense	probably benign	0.44
R6454:Ppp1r9a	UTSW	6	4905827	missense	probably damaging	1.00
R6527:Ppp1r9a	UTSW	6	5045949	missense	probably damaging	1.00
R7053:Ppp1r9a	UTSW	6	4905670	missense	probably damaging	1.00
R7233:Ppp1r9a	UTSW	6	5134804	missense	probably benign
R7238:Ppp1r9a	UTSW	6	5159716	missense	probably damaging	1.00
R7438:Ppp1r9a	UTSW	6	5115378	missense	probably damaging	0.99
R7497:Ppp1r9a	UTSW	6	4905775	missense	probably damaging	1.00
R7666:Ppp1r9a	UTSW	6	5143238	missense	probably benign	0.00
R7698:Ppp1r9a	UTSW	6	4906430	missense	probably benign
R7850:Ppp1r9a	UTSW	6	4905894	missense	possibly damaging	0.77
R8029:Ppp1r9a	UTSW	6	5057518	missense	possibly damaging	0.76
R8392:Ppp1r9a	UTSW	6	5143491	critical splice donor site	probably null
R8411:Ppp1r9a	UTSW	6	5057568	missense	probably damaging	1.00
R8431:Ppp1r9a	UTSW	6	5115456	missense	probably benign	0.01
R8699:Ppp1r9a	UTSW	6	5115474	missense	probably benign	0.00
R8708:Ppp1r9a	UTSW	6	5115196	missense	probably damaging	1.00
R9039:Ppp1r9a	UTSW	6	5134657	missense	probably benign	0.00
R9096:Ppp1r9a	UTSW	6	4906012	missense	probably damaging	1.00
R9097:Ppp1r9a	UTSW	6	4906012	missense	probably damaging	1.00
R9131:Ppp1r9a	UTSW	6	5134106	missense	possibly damaging	0.86
R9279:Ppp1r9a	UTSW	6	5113757	missense	probably damaging	1.00
R9512:Ppp1r9a	UTSW	6	5113681	missense	probably benign	0.27
R9512:Ppp1r9a	UTSW	6	5115364	missense	probably damaging	0.99
R9567:Ppp1r9a	UTSW	6	5157004	missense	probably benign	0.34
R9672:Ppp1r9a	UTSW	6	5007889	missense	unknown
R9687:Ppp1r9a	UTSW	6	4905978	missense	probably damaging	1.00
R9715:Ppp1r9a	UTSW	6	5045936	missense	probably damaging	0.96
RF007:Ppp1r9a	UTSW	6	4906657	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACATGCCTTAGGTGCCTG -3'
(R):5'- GGATGAAGTGTCTCCCGAGATAG -3'

Sequencing Primer
(F):5'- TGCCTGTGTTAGCTGCAC -3'
(R):5'- TGTCTCCCGAGATAGAGGAG -3'

Posted On

2017-06-26