Mutagenetix > Incidental Mutation

Incidental Mutation 'R6233:Ppp1r9a'

504745

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

044361-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

R6233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4902917-5165661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5077610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 630 (D630Y)

Ref Sequence

ENSEMBL: ENSMUSP00000135485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035813] [ENSMUST00000168998] [ENSMUST00000175889] [ENSMUST00000176263] [ENSMUST00000176729] [ENSMUST00000177153] [ENSMUST00000177456]

AlphaFold

H3BJD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000035813
AA Change: D630Y

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

SMART Domains

Protein: ENSMUSP00000046906
Gene: ENSMUSG00000032827
AA Change: D630Y

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 damaging
Transcript: ENSMUST00000168998
AA Change: D630Y

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

SMART Domains

Protein: ENSMUSP00000126643
Gene: ENSMUSG00000032827
AA Change: D630Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000175889
AA Change: D630Y

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

SMART Domains

Protein: ENSMUSP00000135629
Gene: ENSMUSG00000032827
AA Change: D630Y

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 damaging
Transcript: ENSMUST00000176263
AA Change: D630Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134937
Gene: ENSMUSG00000032827
AA Change: D630Y

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 damaging
Transcript: ENSMUST00000177153
AA Change: D630Y

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

SMART Domains

Protein: ENSMUSP00000135485
Gene: ENSMUSG00000032827
AA Change: D630Y

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: D630Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134943
Gene: ENSMUSG00000032827
AA Change: D630Y

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: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	G	6: 48,930,965	T300A	probably benign	Het
9530053A07Rik	T	C	7: 28,131,460	C33R	probably damaging	Het
Acvr1	T	A	2: 58,448,399	N437I	probably benign	Het
Adgrg7	T	A	16: 56,778,642	T57S	possibly damaging	Het
Agbl2	T	A	2: 90,813,313	D792E	probably benign	Het
AI481877	T	A	4: 59,076,245	D566V	possibly damaging	Het
Ankrd9	A	T	12: 110,977,120	I160N	probably damaging	Het
Baz2b	T	A	2: 59,907,511	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,666,740	*174Q	probably null	Het
Cacna1a	A	G	8: 84,588,753	Y1539C	probably damaging	Het
Clmn	A	C	12: 104,785,455	L247R	probably damaging	Het
Cyp1b1	G	T	17: 79,714,266	L16M	probably damaging	Het
Dhx29	T	A	13: 112,964,537	S1205T	probably benign	Het
Dmkn	C	A	7: 30,779,679	A280E	probably damaging	Het
Dnah7b	G	A	1: 46,204,269	D1578N	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dsc3	C	T	18: 19,965,795	G776R	possibly damaging	Het
Eefsec	A	G	6: 88,358,544		probably null	Het
Efhb	A	G	17: 53,462,552	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 78,871,233	Y137*	probably null	Het
Eny2	A	G	15: 44,433,660		probably null	Het
F2rl3	A	G	8: 72,762,885	T247A	probably benign	Het
Fan1	A	T	7: 64,354,371	H782Q	probably damaging	Het
Fbxo28	A	G	1: 182,341,508	S22P	unknown	Het
Fcrlb	A	G	1: 170,908,889	I106T	probably damaging	Het
Fer1l5	T	C	1: 36,375,286		probably null	Het
Fgfbp1	T	C	5: 43,979,362	D196G	possibly damaging	Het
Gab1	A	T	8: 80,879,532	Y24*	probably null	Het
Gcc2	T	C	10: 58,270,984	S681P	probably damaging	Het
Git2	T	C	5: 114,767,114	N94S	probably benign	Het
Gm4756	T	C	12: 72,619,567	Y110C	probably damaging	Het
Gm5346	T	G	8: 43,625,912	N425T	probably benign	Het
Gm5799	T	G	14: 43,544,631	L87V	probably damaging	Het
Gm884	A	T	11: 103,613,388	L2585I	probably damaging	Het
Gna12	A	G	5: 140,760,692	F333L	possibly damaging	Het
Gria2	A	G	3: 80,707,203	I510T	probably damaging	Het
Hace1	T	A	10: 45,670,443	I391N	possibly damaging	Het
Il1rap	A	G	16: 26,710,506	T310A	probably benign	Het
Itpr3	T	C	17: 27,086,960	I164T	probably damaging	Het
Kcnk4	T	C	19: 6,928,329	N90S	probably benign	Het
Krt40	G	A	11: 99,543,094	A22V	possibly damaging	Het
Lamc1	A	T	1: 153,223,666	D1520E	probably benign	Het
Mipep	T	A	14: 60,872,105	W644R	probably damaging	Het
Mycl	A	G	4: 122,999,920	D171G	probably damaging	Het
Myh7b	C	T	2: 155,631,799	A1584V	possibly damaging	Het
Nf1	A	G	11: 79,565,975	Y629C	probably damaging	Het
Obscn	T	A	11: 58,997,207	E2164V	probably damaging	Het
Olfr1061	T	C	2: 86,413,207	I282V	probably damaging	Het
Olfr1152	T	C	2: 87,868,560	S190P	possibly damaging	Het
Olfr1474	T	C	19: 13,471,740	Y257H	probably damaging	Het
Olfr648	A	T	7: 104,179,754	V218D	possibly damaging	Het
Olfr799	T	C	10: 129,647,296	M56T	probably benign	Het
Pcdh20	T	C	14: 88,468,052	E604G	probably benign	Het
Pilra	T	C	5: 137,823,501	T291A	possibly damaging	Het
Pros1	A	C	16: 62,898,921	Q102P	possibly damaging	Het
Rad21l	T	C	2: 151,653,542	D407G	probably benign	Het
Rapgef5	G	A	12: 117,739,718		probably null	Het
Rbm25	G	A	12: 83,659,426	A182T	probably benign	Het
Rnf13	A	G	3: 57,832,970	E236G	possibly damaging	Het
Robo3	T	G	9: 37,420,929	Y891S	probably damaging	Het
Rsrp1	T	A	4: 134,926,802	I255K	probably damaging	Het
Scn1a	T	A	2: 66,277,618	Y1588F	possibly damaging	Het
Sdr16c6	T	A	4: 4,069,984	I119F	probably damaging	Het
Slc12a7	T	C	13: 73,805,471	S767P	possibly damaging	Het
Slc23a1	A	G	18: 35,624,444	I258T	probably damaging	Het
Spata13	G	A	14: 60,692,007	R338H	probably benign	Het
Sufu	G	A	19: 46,475,632	G428R	probably damaging	Het
Sult2a1	T	C	7: 13,832,675	D125G	probably damaging	Het
Tapbp	T	C	17: 33,919,982	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,210,565	K40*	probably null	Het
Tdrd6	A	G	17: 43,629,752	V135A	probably damaging	Het
Tenm3	A	C	8: 48,417,059	V233G	probably damaging	Het
Tmem87a	A	T	2: 120,392,175		probably null	Het
Tspan11	T	C	6: 127,938,264	Y114H	probably damaging	Het
Ttn	T	A	2: 76,737,653	Y27632F	probably benign	Het
Usp44	G	A	10: 93,850,340	C539Y	probably damaging	Het
Vmn2r73	G	A	7: 85,869,891	P508S	probably benign	Het
Zfp831	A	G	2: 174,646,697	D1055G	possibly damaging	Het
Zfp871	CCACAC	CC	17: 32,775,520		probably null	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
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'- TTAGTCTAAGTAGCCTGCTGC -3'
(R):5'- AAAGTTAAGACAGATTTGCTTCCGC -3'

Sequencing Primer
(F):5'- CGAGCTTGAGTGTGACCACATTC -3'
(R):5'- GCTTCCGCAGTGTTCACAAAC -3'

Posted On

2018-02-28