Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Ppp1r9a'

669358

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

MMRRC Submission

068562-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4902917-5165661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 5115196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 804 (V804G)

Ref Sequence

ENSEMBL: ENSMUSP00000135629 (fasta)

Gene Model

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

AlphaFold

H3BJD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000035813
AA Change: V804G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046906
Gene: ENSMUSG00000032827
AA Change: V804G

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

probably damaging
Transcript: ENSMUST00000175889
AA Change: V804G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135629
Gene: ENSMUSG00000032827
AA Change: V804G

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: V826G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134937
Gene: ENSMUSG00000032827
AA Change: V826G

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: V804G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135485
Gene: ENSMUSG00000032827
AA Change: V804G

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

possibly damaging
Transcript: ENSMUST00000177456
AA Change: V804G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134943
Gene: ENSMUSG00000032827
AA Change: V804G

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

0.3631

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,403,400 (GRCm39)	K230R	probably damaging	Het
Ajm1	C	A	2: 25,467,814 (GRCm39)	R699L	possibly damaging	Het
Akp3	T	A	1: 87,054,091 (GRCm39)	Y236*	probably null	Het
Alg11	T	C	8: 22,555,129 (GRCm39)	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,394,756 (GRCm39)	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,727,344 (GRCm39)	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,573,169 (GRCm39)	T68A	probably benign	Het
Arhgap23	A	G	11: 97,343,238 (GRCm39)	T507A	probably benign	Het
Arid1a	A	T	4: 133,409,145 (GRCm39)	D1787E	unknown	Het
Atad2b	T	A	12: 5,011,253 (GRCm39)	D504E	probably damaging	Het
Atg2b	T	A	12: 105,635,687 (GRCm39)		probably benign	Het
Bptf	C	A	11: 106,964,139 (GRCm39)	S1685I	probably damaging	Het
Bptf	T	A	11: 106,964,140 (GRCm39)	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,604,416 (GRCm39)	I1437N		Het
Capn1	T	C	19: 6,061,328 (GRCm39)	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,805,891 (GRCm39)	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,863,095 (GRCm39)	M9I	probably benign	Het
Celf1	T	A	2: 90,840,925 (GRCm39)		probably null	Het
Ckap5	T	A	2: 91,425,823 (GRCm39)	N1285K	probably benign	Het
Col24a1	C	T	3: 145,251,020 (GRCm39)	T1673I	probably damaging	Het
Dbp	A	G	7: 45,359,225 (GRCm39)	E300G	probably damaging	Het
Dchs2	C	A	3: 83,036,049 (GRCm39)	H265Q	probably benign	Het
Dicer1	A	T	12: 104,694,704 (GRCm39)	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,661,266 (GRCm39)	F86L	probably benign	Het
Dnhd1	T	G	7: 105,343,487 (GRCm39)	Y1610*	probably null	Het
Dock5	A	G	14: 68,004,820 (GRCm39)	V1529A	probably benign	Het
Egfr	G	T	11: 16,817,300 (GRCm39)		probably benign	Het
Exph5	T	A	9: 53,287,096 (GRCm39)	H1392Q	probably benign	Het
Fam78b	A	G	1: 166,906,332 (GRCm39)	K164E	possibly damaging	Het
Fignl2	C	A	15: 100,950,734 (GRCm39)	R516L	unknown	Het
Fndc7	C	T	3: 108,774,528 (GRCm39)	E577K	probably benign	Het
Fryl	T	C	5: 73,289,905 (GRCm39)	E107G	probably benign	Het
Gbp10	A	T	5: 105,368,831 (GRCm39)	M336K	probably damaging	Het
Gm11444	A	T	11: 85,737,723 (GRCm39)	C156S		Het
Golga3	C	A	5: 110,350,721 (GRCm39)	A752E	probably benign	Het
Gper1	G	T	5: 139,411,690 (GRCm39)	V12L	probably benign	Het
Hmbox1	G	T	14: 65,061,089 (GRCm39)	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,705,955 (GRCm39)	I77L	probably benign	Het
Ing4	A	T	6: 125,024,895 (GRCm39)	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824 (GRCm39)		probably null	Het
Itpa	T	A	2: 130,517,639 (GRCm39)	V129E	probably damaging	Het
Itpripl1	T	A	2: 126,983,262 (GRCm39)	M287L	probably benign	Het
Klc3	T	C	7: 19,129,784 (GRCm39)	I362V	probably damaging	Het
Ky	T	A	9: 102,402,590 (GRCm39)		probably benign	Het
Lasp1	A	G	11: 97,697,709 (GRCm39)	N43S	possibly damaging	Het
Limk2	A	G	11: 3,300,763 (GRCm39)	M380T	probably benign	Het
Lrp2	T	A	2: 69,289,957 (GRCm39)	E3627D	probably damaging	Het
Lrrc25	T	C	8: 71,070,459 (GRCm39)	L80P	probably damaging	Het
Mcoln3	A	T	3: 145,846,276 (GRCm39)	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854 (GRCm39)	D2591A	probably damaging	Het
Med12l	A	G	3: 59,159,751 (GRCm39)	I1267V	probably benign	Het
Mei4	C	A	9: 81,809,595 (GRCm39)	S226*	probably null	Het
Mios	G	A	6: 8,234,255 (GRCm39)	V809M	probably benign	Het
Mmp17	G	A	5: 129,672,486 (GRCm39)	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,527,218 (GRCm39)	Q36*	probably null	Het
Myo3a	T	A	2: 22,296,607 (GRCm39)		probably benign	Het
Naca	A	T	10: 127,883,943 (GRCm39)	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,322,564 (GRCm39)	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,068,603 (GRCm39)	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,874,758 (GRCm39)		probably null	Het
Or1af1	T	A	2: 37,109,956 (GRCm39)	S152T	probably damaging	Het
Or4a72	C	A	2: 89,405,623 (GRCm39)	G149V	probably damaging	Het
Or5b124	T	C	19: 13,611,401 (GRCm39)	S309P	probably benign	Het
Or6c5	T	A	10: 129,074,678 (GRCm39)	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,634,063 (GRCm39)	D107G	probably benign	Het
Pde2a	A	G	7: 101,159,588 (GRCm39)	D816G	probably damaging	Het
Phf10	T	A	17: 15,176,261 (GRCm39)	T131S	possibly damaging	Het
Phf11	A	T	14: 59,482,262 (GRCm39)	C164S	probably damaging	Het
Phrf1	A	G	7: 140,812,446 (GRCm39)	D70G	unknown	Het
Piezo2	A	G	18: 63,226,086 (GRCm39)	L850S	probably damaging	Het
Plcg1	T	A	2: 160,596,473 (GRCm39)		probably benign	Het
Plekhh2	A	T	17: 84,882,421 (GRCm39)	I676L	probably benign	Het
Ppt2	T	C	17: 34,844,613 (GRCm39)	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,618,066 (GRCm39)	H398R	unknown	Het
Rab26	A	T	17: 24,748,772 (GRCm39)	M208K	probably damaging	Het
Rab31	A	C	17: 65,974,859 (GRCm39)		probably benign	Het
Radil	A	G	5: 142,471,204 (GRCm39)	V1024A	probably damaging	Het
Rorb	A	G	19: 18,960,780 (GRCm39)	I65T	probably damaging	Het
Sall1	A	T	8: 89,759,483 (GRCm39)	V207E	probably damaging	Het
Sart3	A	T	5: 113,882,728 (GRCm39)	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,431,457 (GRCm39)	S277T	probably benign	Het
Septin5	A	G	16: 18,443,622 (GRCm39)	V100A	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Ski	A	T	4: 155,245,119 (GRCm39)	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,673,715 (GRCm39)	D566E	probably benign	Het
Srgap2	G	A	1: 131,273,544 (GRCm39)	Q372*	probably null	Het
Stard9	A	G	2: 120,534,059 (GRCm39)	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769 (GRCm39)		probably benign	Het
Tmco3	A	G	8: 13,345,998 (GRCm39)	M279V	probably benign	Het
Tmem39b	T	C	4: 129,570,191 (GRCm39)		probably benign	Het
Trio	T	A	15: 27,732,632 (GRCm39)	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,531,151 (GRCm39)	R215Q	probably benign	Het
Ubr1	T	C	2: 120,696,964 (GRCm39)	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,776,108 (GRCm39)	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,682,687 (GRCm39)	N839I	probably damaging	Het
Vmn2r75	A	T	7: 85,812,476 (GRCm39)	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,689,489 (GRCm39)	V3016L		Het
Wdr11	A	G	7: 129,200,780 (GRCm39)	N77S	probably benign	Het
Wdr17	C	A	8: 55,093,127 (GRCm39)		probably benign	Het
Wrn	T	A	8: 33,782,671 (GRCm39)	N753I	probably damaging	Het
Zan	A	G	5: 137,461,539 (GRCm39)		probably null	Het
Zfat	T	A	15: 67,956,278 (GRCm39)	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,312,509 (GRCm39)	S62A	probably benign	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
R3606:Ppp1r9a	UTSW	6	5,113,674 (GRCm39)	missense	possibly damaging	0.90
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
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'- TATCCCGCGGTGTACTTGAG -3'
(R):5'- CAGGATGTTTGCTTGACTTCC -3'

Sequencing Primer
(F):5'- GAGTGCTTCTGAAAGAATTTCCAC -3'
(R):5'- GGAGATGGTCTTCTCTCAAAGATG -3'

Posted On

2021-04-30