Mutagenetix > Incidental Mutation

Incidental Mutation 'R4426:Ppp1r9b'

328191

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r9b

Ensembl Gene

ENSMUSG00000038976

Gene Name

protein phosphatase 1, regulatory subunit 9B

Synonyms

neurabin II, Spn, SPL, spinophilin

MMRRC Submission

041697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4426 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94882038-94897724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94892150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 188 (R188S)

Ref Sequence

ENSEMBL: ENSMUSP00000103377 (fasta)

Gene Model

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

AlphaFold

Q6R891

Predicted Effect

probably benign
Transcript: ENSMUST00000038696
AA Change: R612S

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000041732
Gene: ENSMUSG00000038976
AA Change: R612S

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

possibly damaging
Transcript: ENSMUST00000107748
AA Change: R188S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103377
Gene: ENSMUSG00000038976
AA Change: R188S

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

0.0609

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Albfm1	G	T	5: 90,720,642 (GRCm39)	C271F	probably damaging	Het
Arhgef39	C	T	4: 43,497,112 (GRCm39)	G293E	possibly damaging	Het
Atp8a1	A	C	5: 67,932,171 (GRCm39)	I206S	probably benign	Het
Cacnb2	A	T	2: 14,980,026 (GRCm39)	R290*	probably null	Het
Ccdc137	T	C	11: 120,351,074 (GRCm39)	S159P	probably damaging	Het
Chil5	A	G	3: 105,926,943 (GRCm39)	S231P	probably damaging	Het
Cic	C	T	7: 24,993,433 (GRCm39)		probably benign	Het
Csmd3	A	G	15: 47,532,581 (GRCm39)	V2434A	possibly damaging	Het
Csnk1a1	A	G	18: 61,718,381 (GRCm39)		probably benign	Het
Eif4e1b	T	C	13: 54,932,296 (GRCm39)	S49P	probably benign	Het
Far1	C	A	7: 113,149,208 (GRCm39)	P194Q	probably benign	Het
Fut4	T	C	9: 14,662,677 (GRCm39)	T206A	possibly damaging	Het
Galnt7	G	T	8: 58,005,606 (GRCm39)	S209*	probably null	Het
Gas2l1	A	G	11: 5,013,908 (GRCm39)	V184A	probably benign	Het
Herc1	T	C	9: 66,403,287 (GRCm39)	L4402P	probably damaging	Het
Hoxa13	C	A	6: 52,237,714 (GRCm39)		probably benign	Het
Ighv1-9	T	A	12: 114,547,416 (GRCm39)	K42*	probably null	Het
Kif20a	C	T	18: 34,764,994 (GRCm39)	R743W	probably damaging	Het
Lama2	G	A	10: 27,298,554 (GRCm39)	R181C	probably damaging	Het
Lrp2	G	T	2: 69,336,692 (GRCm39)	T1360K	probably benign	Het
Map4k1	G	A	7: 28,688,020 (GRCm39)	V177I	probably damaging	Het
Nbea	G	A	3: 55,989,800 (GRCm39)	T352I	probably damaging	Het
Nde1	A	G	16: 14,006,200 (GRCm39)	T82A	possibly damaging	Het
Nes	A	G	3: 87,883,349 (GRCm39)	E536G	probably damaging	Het
Nms	C	T	1: 38,978,377 (GRCm39)	P4L	probably benign	Het
Nrip1	T	C	16: 76,088,293 (GRCm39)	Q1088R	possibly damaging	Het
Nwd1	A	G	8: 73,393,423 (GRCm39)	K229E	probably damaging	Het
Or51f1d	T	C	7: 102,701,018 (GRCm39)	L171P	probably damaging	Het
Or52ad1	A	G	7: 102,995,290 (GRCm39)	Y282H	probably damaging	Het
Pcdhac2	T	A	18: 37,277,796 (GRCm39)	S259T	probably benign	Het
Pdcd5	T	C	7: 35,345,605 (GRCm39)	D102G	possibly damaging	Het
Pgm1	T	C	4: 99,819,337 (GRCm39)	V169A	probably benign	Het
Pitpnm2	C	T	5: 124,280,186 (GRCm39)	E121K	probably benign	Het
Plin3	T	C	17: 56,593,555 (GRCm39)	Y53C	probably damaging	Het
Poc1b	T	C	10: 98,991,001 (GRCm39)		probably null	Het
Polr2c	A	T	8: 95,590,090 (GRCm39)	N232Y	probably damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rab3gap2	G	A	1: 184,967,539 (GRCm39)	S141N	probably damaging	Het
Radx	T	C	X: 138,381,645 (GRCm39)	V134A	possibly damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rnf166	A	G	8: 123,196,979 (GRCm39)	L91P	probably damaging	Het
Robo2	T	A	16: 73,745,154 (GRCm39)	M200L	probably damaging	Het
Rp1	A	T	1: 4,418,147 (GRCm39)	H988Q	probably benign	Het
Sbno2	T	C	10: 79,908,192 (GRCm39)	K69R	probably null	Het
Sgce	G	A	6: 4,691,459 (GRCm39)	A295V	probably damaging	Het
Shc3	C	G	13: 51,634,130 (GRCm39)		probably null	Het
Slc44a1	T	C	4: 53,563,286 (GRCm39)	V671A	probably benign	Het
Sptbn4	A	C	7: 27,123,223 (GRCm39)	L233R	probably damaging	Het
Stx5a	A	G	19: 8,727,104 (GRCm39)	T252A	probably benign	Het
Timd6	T	A	11: 46,475,247 (GRCm39)	F147L	probably benign	Het
Tmem87b	C	T	2: 128,688,670 (GRCm39)	A485V	probably benign	Het
Tns1	A	G	1: 74,024,908 (GRCm39)	I403T	probably damaging	Het
Ttll10	G	C	4: 156,133,018 (GRCm39)	T22R	possibly damaging	Het
Uevld	A	T	7: 46,589,890 (GRCm39)	S293T	probably benign	Het
Utp18	T	C	11: 93,757,264 (GRCm39)	N467D	probably damaging	Het
Vmn1r39	A	T	6: 66,782,345 (GRCm39)		probably null	Het
Vmn2r106	A	G	17: 20,505,641 (GRCm39)	S18P	probably benign	Het
Vmn2r61	A	T	7: 41,950,157 (GRCm39)	H859L	probably benign	Het
Vmn2r61	T	C	7: 41,950,159 (GRCm39)	S860P	probably benign	Het
Vmn2r72	G	A	7: 85,387,036 (GRCm39)	R843*	probably null	Het
Vwc2	A	G	11: 11,104,235 (GRCm39)	T256A	probably damaging	Het
Zfp715	T	C	7: 42,960,516 (GRCm39)	D25G	probably damaging	Het

Other mutations in Ppp1r9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01714:Ppp1r9b	APN	11	94,896,180 (GRCm39)	missense	probably damaging	0.96
IGL02261:Ppp1r9b	APN	11	94,892,936 (GRCm39)	missense	probably damaging	1.00
R0068:Ppp1r9b	UTSW	11	94,892,046 (GRCm39)	missense	probably damaging	1.00
R0719:Ppp1r9b	UTSW	11	94,892,661 (GRCm39)	splice site	probably null
R1185:Ppp1r9b	UTSW	11	94,892,812 (GRCm39)	missense	possibly damaging	0.95
R1185:Ppp1r9b	UTSW	11	94,892,812 (GRCm39)	missense	possibly damaging	0.95
R1185:Ppp1r9b	UTSW	11	94,892,812 (GRCm39)	missense	possibly damaging	0.95
R1385:Ppp1r9b	UTSW	11	94,883,037 (GRCm39)	missense	probably benign	0.06
R1639:Ppp1r9b	UTSW	11	94,887,436 (GRCm39)	missense	probably damaging	1.00
R1642:Ppp1r9b	UTSW	11	94,892,150 (GRCm39)	synonymous	silent
R2000:Ppp1r9b	UTSW	11	94,887,446 (GRCm39)	missense	probably damaging	1.00
R2162:Ppp1r9b	UTSW	11	94,888,877 (GRCm39)	missense	probably damaging	1.00
R2332:Ppp1r9b	UTSW	11	94,887,435 (GRCm39)	missense	probably damaging	0.96
R3815:Ppp1r9b	UTSW	11	94,883,359 (GRCm39)	missense	probably damaging	1.00
R4427:Ppp1r9b	UTSW	11	94,892,150 (GRCm39)	missense	possibly damaging	0.93
R5121:Ppp1r9b	UTSW	11	94,887,479 (GRCm39)	missense	probably damaging	0.99
R5205:Ppp1r9b	UTSW	11	94,892,124 (GRCm39)	missense	probably benign	0.11
R5348:Ppp1r9b	UTSW	11	94,887,438 (GRCm39)	nonsense	probably null
R5397:Ppp1r9b	UTSW	11	94,892,936 (GRCm39)	missense	probably damaging	1.00
R5399:Ppp1r9b	UTSW	11	94,882,974 (GRCm39)	missense	probably benign
R6188:Ppp1r9b	UTSW	11	94,882,662 (GRCm39)	missense	probably damaging	0.99
R6860:Ppp1r9b	UTSW	11	94,882,974 (GRCm39)	missense	probably benign
R7308:Ppp1r9b	UTSW	11	94,895,397 (GRCm39)	missense	possibly damaging	0.86
R7357:Ppp1r9b	UTSW	11	94,895,424 (GRCm39)	missense	probably benign	0.00
R7479:Ppp1r9b	UTSW	11	94,882,858 (GRCm39)	missense	possibly damaging	0.85
R7587:Ppp1r9b	UTSW	11	94,892,766 (GRCm39)	missense	possibly damaging	0.65
R7651:Ppp1r9b	UTSW	11	94,892,768 (GRCm39)	missense	probably benign	0.03
R7871:Ppp1r9b	UTSW	11	94,892,735 (GRCm39)	missense	probably damaging	1.00
R8692:Ppp1r9b	UTSW	11	94,891,077 (GRCm39)	missense	probably damaging	1.00
R8964:Ppp1r9b	UTSW	11	94,882,705 (GRCm39)	missense	probably damaging	0.99
R9009:Ppp1r9b	UTSW	11	94,887,467 (GRCm39)	missense	probably benign	0.15
R9059:Ppp1r9b	UTSW	11	94,883,254 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- AGTGGCATTCCCAGCTGTAG -3'
(R):5'- AGTGGGACTCTCCTGTTTGAC -3'

Sequencing Primer
(F):5'- ATTCCCAGCTGTAGCCAGG -3'
(R):5'- TGACCCGGAGTTCTCTGAG -3'

Posted On

2015-07-07