Mutagenetix > Incidental Mutations

Incidental Mutation 'R0068:Ppp1r9b'

64426

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r9b

Ensembl Gene

ENSMUSG00000038976

Gene Name

protein phosphatase 1, regulatory subunit 9B

Synonyms

SPL, Spn, spinophilin, neurabin II

MMRRC Submission

038359-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0068 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

94991035-95006899 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 95001220 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 154 (F154V)

Ref Sequence

ENSEMBL: ENSMUSP00000103377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038696] [ENSMUST00000107748]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038696
AA Change: F578V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041732
Gene: ENSMUSG00000038976
AA Change: F578V

Domain	Start	End	E-Value	Type
low complexity region	64	83	N/A	INTRINSIC
low complexity region	126	142	N/A	INTRINSIC
low complexity region	226	237	N/A	INTRINSIC
low complexity region	253	260	N/A	INTRINSIC
low complexity region	281	317	N/A	INTRINSIC
low complexity region	332	361	N/A	INTRINSIC
low complexity region	399	430	N/A	INTRINSIC
Blast:PDZ	431	458	4e-10	BLAST
PDZ	504	584	7.03e-19	SMART
low complexity region	600	612	N/A	INTRINSIC
Blast:PDZ	731	768	2e-10	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000107748
AA Change: F154V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103377
Gene: ENSMUSG00000038976
AA Change: F154V

Domain	Start	End	E-Value	Type
PDZ	80	160	7.03e-19	SMART
low complexity region	176	188	N/A	INTRINSIC
Blast:PDZ	307	344	4e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151771

Meta Mutation Damage Score

0.2211

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 92.6%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal glutamatergic synaptic transmission, reduced long-term depression, resistance to kainate-induced seizures, impaired taste aversion learning, and increased dendritic spine density. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,952,221	T1675A	probably benign	Het
Abca6	T	C	11: 110,182,882	T1448A	probably damaging	Het
Aldoart2	G	T	12: 55,565,448	E53*	probably null	Het
Ankra2	C	T	13: 98,273,383	Q137*	probably null	Het
Arpc1a	C	T	5: 145,091,244	T21I	possibly damaging	Het
Arvcf	T	C	16: 18,396,954		probably benign	Het
Ash1l	C	A	3: 89,007,317	S1751R	probably benign	Het
Bsn	C	A	9: 108,112,137	G2139C	probably damaging	Het
Ccdc148	T	C	2: 58,827,617	E530G	probably benign	Het
Cct3	A	G	3: 88,318,465	D365G	probably benign	Het
Chd2	A	T	7: 73,484,534	S688R	probably damaging	Het
Crispld1	A	G	1: 17,752,988	T398A	possibly damaging	Het
Ctbp2	A	C	7: 132,990,059	V906G	possibly damaging	Het
Cwf19l1	A	T	19: 44,131,499	Y68N	probably damaging	Het
Dlc1	T	A	8: 36,937,721	M305L	probably benign	Het
Dnm1l	C	A	16: 16,324,019	G288C	probably damaging	Het
Fignl2	A	T	15: 101,054,248	I51N	probably damaging	Het
Flnb	A	G	14: 7,915,290	N1474D	possibly damaging	Het
Ghrhr	C	T	6: 55,380,864		probably benign	Het
Gm11639	T	C	11: 104,720,822	S497P	probably benign	Het
Hltf	G	A	3: 20,059,090	R9H	probably damaging	Het
Hps5	A	G	7: 46,777,042		probably benign	Het
Itpr3	T	C	17: 27,104,060		probably benign	Het
Kansl1l	A	G	1: 66,720,888	V911A	probably benign	Het
Kdm3b	C	T	18: 34,824,774	T1064I	probably benign	Het
Lrriq1	T	A	10: 103,063,418	Q1654L	probably benign	Het
Ltbp1	A	G	17: 75,359,409	T1366A	probably damaging	Het
Mroh1	A	G	15: 76,446,692		probably benign	Het
Mroh2a	GT	GTT	1: 88,256,166		probably null	Het
Napb	G	A	2: 148,698,923		probably benign	Het
Npc1	G	C	18: 12,208,367	P532A	probably benign	Het
Nrp2	G	T	1: 62,745,377	K228N	possibly damaging	Het
Olfr275	T	A	4: 52,825,503	Y35*	probably null	Het
Plekhg1	A	T	10: 3,940,504	K241*	probably null	Het
Poln	T	C	5: 34,077,088		probably benign	Het
Ppil1	A	T	17: 29,252,256	F92I	probably damaging	Het
Ptchd3	T	G	11: 121,842,972	L896R	probably damaging	Het
Rev3l	A	G	10: 39,824,831	N1775D	possibly damaging	Het
Rusc2	T	C	4: 43,424,100		probably benign	Het
Selenbp2	T	C	3: 94,703,509	V294A	probably benign	Het
Slc25a48	T	C	13: 56,451,211	V118A	probably damaging	Het
Slc38a10	T	C	11: 120,134,853	D219G	probably damaging	Het
Slc38a2	C	T	15: 96,691,292		probably null	Het
Slc39a12	A	G	2: 14,435,678	E480G	probably benign	Het
Tab2	C	A	10: 7,919,677	R347L	probably damaging	Het
Tas2r123	T	C	6: 132,847,992	I284T	possibly damaging	Het
Tnks1bp1	T	A	2: 85,062,352	D212E	probably benign	Het
Trim67	T	C	8: 124,794,568	V223A	probably damaging	Het
Ugcg	A	G	4: 59,217,130	D218G	probably benign	Het
Vmn2r59	A	G	7: 42,046,301	L229S	probably damaging	Het
Zfp451	A	T	1: 33,777,625	L198I	probably damaging	Het

Other mutations in Ppp1r9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01714:Ppp1r9b	APN	11	95005354	missense	probably damaging	0.96
IGL02261:Ppp1r9b	APN	11	95002110	missense	probably damaging	1.00
R0719:Ppp1r9b	UTSW	11	95001835	splice site	probably null
R1185:Ppp1r9b	UTSW	11	95001986	missense	possibly damaging	0.95
R1185:Ppp1r9b	UTSW	11	95001986	missense	possibly damaging	0.95
R1185:Ppp1r9b	UTSW	11	95001986	missense	possibly damaging	0.95
R1385:Ppp1r9b	UTSW	11	94992211	missense	probably benign	0.06
R1639:Ppp1r9b	UTSW	11	94996610	missense	probably damaging	1.00
R1642:Ppp1r9b	UTSW	11	95001324	synonymous	silent
R2000:Ppp1r9b	UTSW	11	94996620	missense	probably damaging	1.00
R2162:Ppp1r9b	UTSW	11	94998051	missense	probably damaging	1.00
R2332:Ppp1r9b	UTSW	11	94996609	missense	probably damaging	0.96
R3815:Ppp1r9b	UTSW	11	94992533	missense	probably damaging	1.00
R4426:Ppp1r9b	UTSW	11	95001324	missense	possibly damaging	0.93
R4427:Ppp1r9b	UTSW	11	95001324	missense	possibly damaging	0.93
R5121:Ppp1r9b	UTSW	11	94996653	missense	probably damaging	0.99
R5205:Ppp1r9b	UTSW	11	95001298	missense	probably benign	0.11
R5348:Ppp1r9b	UTSW	11	94996612	nonsense	probably null
R5397:Ppp1r9b	UTSW	11	95002110	missense	probably damaging	1.00
R5399:Ppp1r9b	UTSW	11	94992148	missense	probably benign
R6188:Ppp1r9b	UTSW	11	94991836	missense	probably damaging	0.99
R6860:Ppp1r9b	UTSW	11	94992148	missense	probably benign
R7308:Ppp1r9b	UTSW	11	95004571	missense	possibly damaging	0.86
R7357:Ppp1r9b	UTSW	11	95004598	missense	probably benign	0.00
R7479:Ppp1r9b	UTSW	11	94992032	missense	possibly damaging	0.85
R7587:Ppp1r9b	UTSW	11	95001940	missense	possibly damaging	0.65
R7651:Ppp1r9b	UTSW	11	95001942	missense	probably benign	0.03
R7871:Ppp1r9b	UTSW	11	95001909	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAGGCTATTCCCCATTCCCGAG -3'
(R):5'- CGCTGCTTCATCTAACCACCAGAG -3'

Sequencing Primer
(F):5'- AAGCATGGTTGACAGCCC -3'
(R):5'- TCTAACCACCAGAGGGCAG -3'

Posted On

2013-08-06