Mutagenetix > Incidental Mutation

Incidental Mutation 'R3606:Ppp1r9a'

269084

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r9a

Ensembl Gene

ENSMUSG00000032827

Gene Name

protein phosphatase 1, regulatory subunit 9A

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.433) question?

Stock #

R3606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4902917-5165661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5113674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 726 (N726S)

Ref Sequence

ENSEMBL: ENSMUSP00000135485 (fasta)

Gene Model

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

AlphaFold

H3BJD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035813
AA Change: N726S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046906
Gene: ENSMUSG00000032827
AA Change: N726S

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: ENSMUST00000065842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164110

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175889
AA Change: N726S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135629
Gene: ENSMUSG00000032827
AA Change: N726S

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

noncoding transcript
Transcript: ENSMUST00000176136

Predicted Effect

probably benign
Transcript: ENSMUST00000176263
AA Change: N748S

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134937
Gene: ENSMUSG00000032827
AA Change: N748S

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: ENSMUST00000177456
AA Change: N726S

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134943
Gene: ENSMUSG00000032827
AA Change: N726S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177153
AA Change: N726S

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135485
Gene: ENSMUSG00000032827
AA Change: N726S

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

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.0%
20x: 93.8%

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4b	T	C	13: 14,294,826 (GRCm39)	V36A	probably damaging	Het
Cd101	A	T	3: 100,927,913 (GRCm39)	I56N	probably damaging	Het
Cs	A	T	10: 128,195,892 (GRCm39)	H367L	probably benign	Het
Ddb1	A	G	19: 10,605,857 (GRCm39)	E1095G	probably damaging	Het
Fgfrl1	C	A	5: 108,853,289 (GRCm39)	T213K	probably damaging	Het
Ift70a1	T	C	2: 75,811,621 (GRCm39)	D154G	probably benign	Het
Kprp	C	A	3: 92,731,588 (GRCm39)	Q487H	unknown	Het
Myom2	T	C	8: 15,119,775 (GRCm39)	V177A	probably damaging	Het
Nelfcd	A	G	2: 174,268,337 (GRCm39)	Y525C	probably benign	Het
Or2t49	C	T	11: 58,392,957 (GRCm39)	V148M	possibly damaging	Het
Or5i1	C	A	2: 87,613,551 (GRCm39)	F222L	probably benign	Het
Pcdhgc5	A	G	18: 37,953,560 (GRCm39)	D278G	probably benign	Het
Peg3	T	C	7: 6,711,508 (GRCm39)	E1238G	probably damaging	Het
Plekha7	T	C	7: 115,763,477 (GRCm39)	D313G	possibly damaging	Het
Psmd3	C	T	11: 98,581,780 (GRCm39)	R302W	probably damaging	Het
Ptbp2	A	G	3: 119,541,281 (GRCm39)	L223P	probably damaging	Het
Ranbp10	A	G	8: 106,502,667 (GRCm39)	S300P	probably benign	Het
Rundc3b	A	T	5: 8,562,386 (GRCm39)	D327E	probably damaging	Het
Tsr1	T	C	11: 74,796,059 (GRCm39)	S562P	probably benign	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het

Other mutations in Ppp1r9a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Ppp1r9a	APN	6	5,158,195 (GRCm39)	missense	possibly damaging	0.72
IGL00796:Ppp1r9a	APN	6	5,157,014 (GRCm39)	missense	probably benign	0.37
IGL00906:Ppp1r9a	APN	6	5,157,023 (GRCm39)	missense	possibly damaging	0.62
IGL01662:Ppp1r9a	APN	6	5,115,322 (GRCm39)	missense	probably damaging	1.00
IGL01695:Ppp1r9a	APN	6	5,064,003 (GRCm39)	missense	probably damaging	1.00
IGL01807:Ppp1r9a	APN	6	5,158,248 (GRCm39)	nonsense	probably null
IGL02126:Ppp1r9a	APN	6	5,156,229 (GRCm39)	missense	probably damaging	1.00
IGL02423:Ppp1r9a	APN	6	4,906,537 (GRCm39)	missense	probably benign	0.25
IGL03343:Ppp1r9a	APN	6	5,046,015 (GRCm39)	missense	probably damaging	1.00
IGL03365:Ppp1r9a	APN	6	5,110,993 (GRCm39)	splice site	probably benign
R0545:Ppp1r9a	UTSW	6	5,115,357 (GRCm39)	missense	probably benign	0.45
R1126:Ppp1r9a	UTSW	6	4,906,795 (GRCm39)	missense	possibly damaging	0.93
R1137:Ppp1r9a	UTSW	6	5,159,697 (GRCm39)	missense	possibly damaging	0.46
R1443:Ppp1r9a	UTSW	6	5,057,557 (GRCm39)	missense	probably damaging	1.00
R1484:Ppp1r9a	UTSW	6	5,113,712 (GRCm39)	nonsense	probably null
R1545:Ppp1r9a	UTSW	6	5,156,242 (GRCm39)	critical splice donor site	probably null
R1627:Ppp1r9a	UTSW	6	4,906,168 (GRCm39)	missense	possibly damaging	0.50
R1672:Ppp1r9a	UTSW	6	5,143,491 (GRCm39)	critical splice donor site	probably null
R1826:Ppp1r9a	UTSW	6	5,111,060 (GRCm39)	splice site	probably benign
R1834:Ppp1r9a	UTSW	6	5,113,710 (GRCm39)	missense	probably damaging	0.98
R1874:Ppp1r9a	UTSW	6	4,906,348 (GRCm39)	missense	possibly damaging	0.87
R2224:Ppp1r9a	UTSW	6	5,154,074 (GRCm39)	missense	probably benign
R2227:Ppp1r9a	UTSW	6	5,154,074 (GRCm39)	missense	probably benign
R2898:Ppp1r9a	UTSW	6	4,906,558 (GRCm39)	missense	probably benign	0.01
R3732:Ppp1r9a	UTSW	6	4,906,259 (GRCm39)	unclassified	probably benign
R3927:Ppp1r9a	UTSW	6	5,057,531 (GRCm39)	missense	probably damaging	1.00
R4631:Ppp1r9a	UTSW	6	4,906,537 (GRCm39)	missense	possibly damaging	0.62
R4682:Ppp1r9a	UTSW	6	4,905,477 (GRCm39)	missense	possibly damaging	0.48
R4766:Ppp1r9a	UTSW	6	5,157,016 (GRCm39)	missense	probably benign	0.11
R5197:Ppp1r9a	UTSW	6	5,156,177 (GRCm39)	missense	probably damaging	1.00
R5217:Ppp1r9a	UTSW	6	5,115,367 (GRCm39)	missense	probably damaging	1.00
R5493:Ppp1r9a	UTSW	6	5,159,702 (GRCm39)	missense	probably damaging	0.99
R5790:Ppp1r9a	UTSW	6	5,134,363 (GRCm39)	intron	probably benign
R5828:Ppp1r9a	UTSW	6	5,158,200 (GRCm39)	missense	probably damaging	1.00
R5896:Ppp1r9a	UTSW	6	5,159,648 (GRCm39)	missense	probably damaging	1.00
R5930:Ppp1r9a	UTSW	6	5,157,002 (GRCm39)	critical splice acceptor site	probably null
R5990:Ppp1r9a	UTSW	6	5,134,660 (GRCm39)	missense	probably benign	0.05
R6017:Ppp1r9a	UTSW	6	4,906,363 (GRCm39)	missense	probably benign	0.18
R6122:Ppp1r9a	UTSW	6	4,905,509 (GRCm39)	missense	probably damaging	1.00
R6164:Ppp1r9a	UTSW	6	5,110,715 (GRCm39)	intron	probably benign
R6175:Ppp1r9a	UTSW	6	4,905,639 (GRCm39)	nonsense	probably null
R6188:Ppp1r9a	UTSW	6	5,158,113 (GRCm39)	nonsense	probably null
R6233:Ppp1r9a	UTSW	6	5,077,610 (GRCm39)	missense	probably damaging	1.00
R6321:Ppp1r9a	UTSW	6	5,115,151 (GRCm39)	missense	probably damaging	1.00
R6449:Ppp1r9a	UTSW	6	5,057,458 (GRCm39)	missense	probably benign	0.44
R6454:Ppp1r9a	UTSW	6	4,905,827 (GRCm39)	missense	probably damaging	1.00
R6527:Ppp1r9a	UTSW	6	5,045,949 (GRCm39)	missense	probably damaging	1.00
R7053:Ppp1r9a	UTSW	6	4,905,670 (GRCm39)	missense	probably damaging	1.00
R7233:Ppp1r9a	UTSW	6	5,134,804 (GRCm39)	missense	probably benign
R7238:Ppp1r9a	UTSW	6	5,159,716 (GRCm39)	missense	probably damaging	1.00
R7438:Ppp1r9a	UTSW	6	5,115,378 (GRCm39)	missense	probably damaging	0.99
R7497:Ppp1r9a	UTSW	6	4,905,775 (GRCm39)	missense	probably damaging	1.00
R7666:Ppp1r9a	UTSW	6	5,143,238 (GRCm39)	missense	probably benign	0.00
R7698:Ppp1r9a	UTSW	6	4,906,430 (GRCm39)	missense	probably benign
R7850:Ppp1r9a	UTSW	6	4,905,894 (GRCm39)	missense	possibly damaging	0.77
R8029:Ppp1r9a	UTSW	6	5,057,518 (GRCm39)	missense	possibly damaging	0.76
R8392:Ppp1r9a	UTSW	6	5,143,491 (GRCm39)	critical splice donor site	probably null
R8411:Ppp1r9a	UTSW	6	5,057,568 (GRCm39)	missense	probably damaging	1.00
R8431:Ppp1r9a	UTSW	6	5,115,456 (GRCm39)	missense	probably benign	0.01
R8699:Ppp1r9a	UTSW	6	5,115,474 (GRCm39)	missense	probably benign	0.00
R8708:Ppp1r9a	UTSW	6	5,115,196 (GRCm39)	missense	probably damaging	1.00
R9039:Ppp1r9a	UTSW	6	5,134,657 (GRCm39)	missense	probably benign	0.00
R9096:Ppp1r9a	UTSW	6	4,906,012 (GRCm39)	missense	probably damaging	1.00
R9097:Ppp1r9a	UTSW	6	4,906,012 (GRCm39)	missense	probably damaging	1.00
R9131:Ppp1r9a	UTSW	6	5,134,106 (GRCm39)	missense	possibly damaging	0.86
R9279:Ppp1r9a	UTSW	6	5,113,757 (GRCm39)	missense	probably damaging	1.00
R9512:Ppp1r9a	UTSW	6	5,115,364 (GRCm39)	missense	probably damaging	0.99
R9512:Ppp1r9a	UTSW	6	5,113,681 (GRCm39)	missense	probably benign	0.27
R9567:Ppp1r9a	UTSW	6	5,157,004 (GRCm39)	missense	probably benign	0.34
R9672:Ppp1r9a	UTSW	6	5,007,889 (GRCm39)	missense	unknown
R9687:Ppp1r9a	UTSW	6	4,905,978 (GRCm39)	missense	probably damaging	1.00
R9715:Ppp1r9a	UTSW	6	5,045,936 (GRCm39)	missense	probably damaging	0.96
RF007:Ppp1r9a	UTSW	6	4,906,657 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGCTAGCAAAGAGAGTTCATG -3'
(R):5'- GCTGCCCTTAGCTCACTATG -3'

Sequencing Primer
(F):5'- GGAAAGAACAGTTGCTCTTCTC -3'
(R):5'- TCACTATGAGCACTTACTTTTGC -3'

Posted On

2015-02-19