Mutagenetix > Incidental Mutation

Incidental Mutation 'R9131:Ppp1r9a'

693617

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

R9131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4902917-5165661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5134106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 898 (R898G)

Ref Sequence

ENSEMBL: ENSMUSP00000135629 (fasta)

Gene Model

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

AlphaFold

H3BJD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035813
AA Change: R898G

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046906
Gene: ENSMUSG00000032827
AA Change: R898G

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

possibly damaging
Transcript: ENSMUST00000175889
AA Change: R898G

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135629
Gene: ENSMUSG00000032827
AA Change: R898G

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

possibly damaging
Transcript: ENSMUST00000176263
AA Change: R920G

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134937
Gene: ENSMUSG00000032827
AA Change: R920G

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

possibly damaging
Transcript: ENSMUST00000177153
AA Change: R898G

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135485
Gene: ENSMUSG00000032827
AA Change: R898G

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 damaging
Transcript: ENSMUST00000177456
AA Change: R898G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134943
Gene: ENSMUSG00000032827
AA Change: R898G

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

Coding Region Coverage

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

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,332,508	Y148F	possibly damaging	Het
Adamtsl3	A	G	7: 82,595,514	T1393A	probably benign	Het
Adgrf4	G	T	17: 42,667,367	Q362K	probably benign	Het
Akr1d1	A	G	6: 37,554,516	K163R	probably benign	Het
Arhgap42	A	G	9: 9,011,363	L474P	probably damaging	Het
Arhgef18	G	A	8: 3,437,007	R242Q	possibly damaging	Het
Asah1	A	G	8: 41,354,012		probably null	Het
Atm	A	T	9: 53,533,744	I34N	probably benign	Het
Brms1l	A	G	12: 55,860,128	E160G	possibly damaging	Het
Camk2a	C	T	18: 60,943,255	H102Y	unknown	Het
Cd300lb	A	G	11: 114,928,308	V165A	probably damaging	Het
Cela1	G	A	15: 100,681,157	R207C	probably benign	Het
Chd7	T	C	4: 8,785,642	S649P		Het
Clic3	A	G	2: 25,458,313	Q130R	probably benign	Het
Clns1a	G	A	7: 97,713,918	G166R	probably damaging	Het
Cngb1	A	T	8: 95,253,265	H1002Q	probably benign	Het
Cnnm1	C	A	19: 43,441,400	A319E	probably benign	Het
Cntnap5b	C	T	1: 100,050,643	T128I	probably benign	Het
Csf3r	G	A	4: 126,030,020	D108N	probably benign	Het
Ctsc	G	A	7: 88,309,808	W432*	probably null	Het
Dapk1	G	A	13: 60,761,394	G1274R	probably damaging	Het
Dennd2c	C	A	3: 103,157,715	P718Q	probably damaging	Het
Dmxl1	C	G	18: 49,939,572	N2744K	probably damaging	Het
Dnah7b	C	T	1: 46,227,020	R2250C	probably damaging	Het
Dnmt3a	A	T	12: 3,866,136	Q107L	probably benign	Het
Eml2	A	G	7: 19,184,826	D67G		Het
Eml5	A	T	12: 98,858,840	V706E	probably damaging	Het
Eps8l1	A	G	7: 4,477,574	D509G		Het
Farsb	T	C	1: 78,483,314	K43E	probably benign	Het
Fbxw20	A	G	9: 109,223,446	F273S	probably damaging	Het
Fig4	A	T	10: 41,265,411	F284Y	possibly damaging	Het
Fsd1l	C	A	4: 53,694,756	N403K	probably damaging	Het
Fsip2	A	T	2: 82,982,826	H3163L	probably benign	Het
Gm38119	C	A	3: 92,738,096	G64*	probably null	Het
Gpr18	A	G	14: 121,911,761	V284A	probably benign	Het
Hacd3	A	G	9: 65,001,004	V170A	probably damaging	Het
Hps3	T	C	3: 20,029,186	E281G	probably damaging	Het
Ick	A	T	9: 78,166,948	S551C	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,926	V10G	probably benign	Het
Lrp1b	G	A	2: 40,699,578	R3862*	probably null	Het
Ltbp4	A	G	7: 27,337,551	L6P	unknown	Het
Ly6h	T	A	15: 75,565,673	T53S	probably damaging	Het
Ly6i	A	G	15: 74,983,157		probably benign	Het
Mat2a	G	A	6: 72,436,244	R168C	probably damaging	Het
Mdn1	T	A	4: 32,762,275	D5066E	possibly damaging	Het
Med23	T	A	10: 24,904,381	F976I		Het
Muc5ac	T	C	7: 141,809,792	I2280T	unknown	Het
Mylk	G	T	16: 34,956,465	C1336F	probably benign	Het
Myo9a	G	C	9: 59,861,489	R918P	probably damaging	Het
Naglu	T	A	11: 101,076,905	D560E	probably damaging	Het
Nrg2	C	T	18: 36,024,343	V430M	probably damaging	Het
Oit3	T	C	10: 59,435,929	N202S	probably benign	Het
Olfr1453	T	A	19: 13,027,996	Y111F	probably benign	Het
Olfr211	A	G	6: 116,493,920	T104A	probably benign	Het
Olfr389	A	T	11: 73,777,324	M1K	probably null	Het
Olfr569	T	C	7: 102,887,979	H58R	probably benign	Het
Olfr766-ps1	C	A	10: 129,063,228	V260F	probably damaging	Het
Otog	T	A	7: 46,303,173	C423*	probably null	Het
Pcolce	T	A	5: 137,605,508	T401S	probably benign	Het
Pcsk2	T	C	2: 143,813,663	M589T	possibly damaging	Het
Pik3r5	T	C	11: 68,492,273	L306P	possibly damaging	Het
Pikfyve	T	A	1: 65,246,080	M826K	probably damaging	Het
Prl7b1	A	G	13: 27,606,985	V39A	probably benign	Het
Pros1	T	A	16: 62,928,034	D623E	probably damaging	Het
Psg16	A	G	7: 17,098,099	D320G	probably benign	Het
Ptpre	T	A	7: 135,679,146	H612Q	probably damaging	Het
Rbm34	A	G	8: 126,953,178	S283P	probably damaging	Het
Rc3h2	A	T	2: 37,414,690	N19K	possibly damaging	Het
Sacm1l	T	A	9: 123,552,762	L143*	probably null	Het
Sept9	T	A	11: 117,290,634	S105T	probably damaging	Het
Shprh	T	C	10: 11,162,845	M448T	possibly damaging	Het
Slc6a20a	A	C	9: 123,636,998	*593E	probably null	Het
Smarcc1	A	G	9: 110,135,642	D89G	possibly damaging	Het
Svep1	T	A	4: 58,087,778	Y1767F	possibly damaging	Het
Tanc2	T	C	11: 105,798,777	V255A	probably benign	Het
Tiam1	A	G	16: 89,860,267	S694P	probably damaging	Het
Tmem130	T	C	5: 144,743,719	T292A		Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	11: 94,214,377		probably benign	Het
Tpcn2	A	G	7: 145,260,925	Y480H	probably damaging	Het
Trf	G	T	9: 103,211,888	A600D	probably damaging	Het
Ttc16	A	T	2: 32,769,220	L346Q	probably damaging	Het
Vars	A	C	17: 35,004,797	K229N	possibly damaging	Het
Vmn1r113	G	T	7: 20,787,417	G45C	probably damaging	Het
Vmn1r32	A	G	6: 66,553,036	V252A	probably benign	Het
Vmn2r93	A	G	17: 18,325,881	T672A	probably damaging	Het
Wdfy4	T	A	14: 33,097,850	T1466S		Het
Zcwpw1	T	C	5: 137,810,920	Y317H	probably damaging	Het
Zfp169	T	C	13: 48,491,081	E190G	unknown	Het
Zfp273	A	T	13: 67,825,566	H271L	probably damaging	Het
Zfp764	C	A	7: 127,406,547	E20*	probably null	Het
Znfx1	A	T	2: 167,050,378	N639K	probably benign	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
R5990:Ppp1r9a	UTSW	6	5134660	missense	probably benign	0.05
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
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'- TGGAGTGTTAGACAAGCTGG -3'
(R):5'- CTTCCAAGTAAGGCACAGATCAG -3'

Sequencing Primer
(F):5'- GGAAAAATTGGCTTCTGTCCC -3'
(R):5'- GATCAGTAAAACCGCTATCACGTTC -3'

Posted On

2022-01-20