Mutagenetix > Incidental Mutations

Incidental Mutation 'R7255:Ppp1r16b'

564183

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r16b

Ensembl Gene

ENSMUSG00000037754

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 16B

Synonyms

C130078N17Rik, Wdt4, ANKRD4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158665398-158766334 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 158761391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 412 (F412S)

Ref Sequence

ENSEMBL: ENSMUSP00000039540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045503] [ENSMUST00000052927] [ENSMUST00000103116] [ENSMUST00000145073]

AlphaFold

Q8VHQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000045503
AA Change: F412S

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: F412S

Domain	Start	End	E-Value	Type
low complexity region	22	39	N/A	INTRINSIC
low complexity region	46	55	N/A	INTRINSIC
ANK	67	96	5.69e2	SMART
ANK	100	129	5.04e-6	SMART
ANK	133	162	1.76e-5	SMART
ANK	228	257	4.43e-2	SMART
ANK	261	290	1.38e-3	SMART
low complexity region	301	314	N/A	INTRINSIC
low complexity region	327	342	N/A	INTRINSIC
low complexity region	504	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000052927
AA Change: F412S

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: F412S

Domain	Start	End	E-Value	Type
low complexity region	22	39	N/A	INTRINSIC
low complexity region	46	55	N/A	INTRINSIC
ANK	67	96	5.69e2	SMART
ANK	100	129	5.04e-6	SMART
ANK	133	162	1.76e-5	SMART
ANK	228	257	4.43e-2	SMART
ANK	261	290	1.38e-3	SMART
low complexity region	301	314	N/A	INTRINSIC
low complexity region	327	342	N/A	INTRINSIC
low complexity region	504	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103116
AA Change: F412S

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: F412S

Domain	Start	End	E-Value	Type
low complexity region	22	39	N/A	INTRINSIC
low complexity region	46	55	N/A	INTRINSIC
ANK	67	96	5.69e2	SMART
ANK	100	129	5.04e-6	SMART
ANK	133	162	1.76e-5	SMART
ANK	228	257	4.43e-2	SMART
ANK	261	290	1.38e-3	SMART
low complexity region	301	314	N/A	INTRINSIC
low complexity region	327	342	N/A	INTRINSIC
low complexity region	504	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145073
AA Change: F312S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: F312S

Domain	Start	End	E-Value	Type
ANK	9	38	5.69e2	SMART
ANK	42	71	5.04e-6	SMART
ANK	75	104	1.76e-5	SMART
Blast:ANK	149	190	5e-18	BLAST
low complexity region	201	214	N/A	INTRINSIC
low complexity region	227	242	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal with no detectable defects in thymopoiesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	G	A	11: 23,620,465	P145L	probably benign	Het
9530003J23Rik	T	C	10: 117,234,422	H150R	probably benign	Het
Aldh1a7	A	G	19: 20,714,728	S234P	probably damaging	Het
Arhgap28	T	C	17: 67,853,004	H650R	probably damaging	Het
Asic1	A	G	15: 99,697,457	D355G	probably damaging	Het
Atp8b1	T	A	18: 64,556,868	S598C	probably damaging	Het
Bcat1	C	A	6: 145,032,785	E237*	probably null	Het
Btbd16	A	T	7: 130,785,992	I114F	probably benign	Het
Casp2	A	G	6: 42,268,907	D166G	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cpsf1	G	A	15: 76,597,543	T1099M	probably damaging	Het
Crisp4	C	A	1: 18,130,231	A116S	probably damaging	Het
Cyb5r3	A	G	15: 83,160,165	I168T	probably damaging	Het
Dip2b	G	A	15: 100,209,627	D1407N	probably benign	Het
Dnajc8	A	G	4: 132,551,573	K201R	probably benign	Het
Dock10	C	T	1: 80,543,099		probably null	Het
Dopey2	C	A	16: 93,770,146	H1272N	probably damaging	Het
Dsc1	C	T	18: 20,097,273	R325Q	probably benign	Het
Enpp1	A	T	10: 24,645,315	I838K	possibly damaging	Het
Fcna	T	G	2: 25,626,028	D159A	probably damaging	Het
Flnc	G	T	6: 29,445,766	G840C	probably damaging	Het
Flt1	C	T	5: 147,580,406	A1024T	probably damaging	Het
Galc	T	C	12: 98,246,255	K207R	probably null	Het
Gbp2b	T	A	3: 142,608,117	L386Q	probably damaging	Het
Gm8297	T	A	14: 4,984,874	N48K	probably damaging	Het
Gm9639	G	A	10: 77,794,538	P180L	unknown	Het
Inpp5a	A	G	7: 139,511,448	N116S	probably damaging	Het
Ipo9	T	C	1: 135,385,988	E984G	probably benign	Het
Klra4	A	G	6: 130,059,642	F145L	probably damaging	Het
Lag3	A	G	6: 124,910,235	L123P	probably benign	Het
Med7	T	A	11: 46,440,995	M139K	probably damaging	Het
Mfsd2a	A	C	4: 122,952,021	L153R	possibly damaging	Het
Mup9	A	G	4: 60,421,337	V71A	probably benign	Het
Myo16	A	T	8: 10,499,169	Q927L	unknown	Het
Myo9b	T	C	8: 71,290,891	Y199H	probably damaging	Het
Nefm	A	G	14: 68,116,000	F406L	probably benign	Het
Olfr1123	T	A	2: 87,418,942	L296Q	probably damaging	Het
Olfr1333	A	T	4: 118,829,952	F162I	probably benign	Het
Pamr1	T	C	2: 102,611,584	F173L	probably damaging	Het
Pds5b	T	A	5: 150,796,667	D1205E	probably benign	Het
Plxna2	T	G	1: 194,752,103	F646V	probably benign	Het
Pnrc1	C	T	4: 33,248,045	G118D	probably benign	Het
Prcc	A	T	3: 87,870,091	V192E	probably damaging	Het
Psg19	A	G	7: 18,794,048	Y257H	probably benign	Het
Rfx7	T	G	9: 72,619,828	S1433R	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Sbspon	G	T	1: 15,883,797	C86*	probably null	Het
Sdhb	A	G	4: 140,977,418	E230G	possibly damaging	Het
Sema6b	T	C	17: 56,125,336	T581A	probably benign	Het
Shkbp1	G	T	7: 27,342,748	T594K	possibly damaging	Het
Shpk	A	G	11: 73,199,660	S48G	probably benign	Het
Slc1a3	A	G	15: 8,642,999	V332A	possibly damaging	Het
Slc25a25	T	C	2: 32,421,372	E135G	possibly damaging	Het
Slc5a8	A	T	10: 88,909,631	D367V	probably damaging	Het
Slco1c1	A	G	6: 141,569,325	T649A	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spats1	T	A	17: 45,454,205	D163V	probably damaging	Het
Ssh2	T	A	11: 77,425,593	M304K	probably damaging	Het
Sulf1	T	A	1: 12,859,008	D166E	probably benign	Het
Syne1	A	G	10: 5,333,446	S1540P	probably damaging	Het
Tcf7l1	A	T	6: 72,627,347		probably null	Het
Tet1	A	T	10: 62,822,636	M1477K	probably benign	Het
Tlr5	T	C	1: 182,974,316	F395S	probably damaging	Het
Trrap	T	C	5: 144,858,954	L3847P	probably damaging	Het
Tsks	C	T	7: 44,952,688	S276L	probably benign	Het
Uggt1	T	C	1: 36,146,106	E1519G	probably damaging	Het
Vps13a	A	G	19: 16,654,339		probably null	Het
Wdfy4	A	G	14: 32,974,282	V2768A		Het
Wdr26	A	C	1: 181,181,324	I627R	probably benign	Het
Zfp160	T	A	17: 21,025,487	S100T	probably benign	Het

Other mutations in Ppp1r16b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Ppp1r16b	APN	2	158756965	missense	probably damaging	1.00
IGL01024:Ppp1r16b	APN	2	158740816	splice site	probably benign
IGL01080:Ppp1r16b	APN	2	158757172	missense	probably damaging	0.99
IGL02106:Ppp1r16b	APN	2	158746531	missense	possibly damaging	0.51
IGL03084:Ppp1r16b	APN	2	158761493	nonsense	probably null
R0037:Ppp1r16b	UTSW	2	158757209	missense	probably damaging	0.98
R0037:Ppp1r16b	UTSW	2	158757209	missense	probably damaging	0.98
R0190:Ppp1r16b	UTSW	2	158696063	missense	probably damaging	1.00
R0294:Ppp1r16b	UTSW	2	158746603	missense	probably damaging	1.00
R1735:Ppp1r16b	UTSW	2	158761495	missense	possibly damaging	0.94
R1746:Ppp1r16b	UTSW	2	158746665	critical splice donor site	probably null
R1847:Ppp1r16b	UTSW	2	158761435	missense	probably damaging	0.99
R2297:Ppp1r16b	UTSW	2	158761366	missense	possibly damaging	0.88
R2509:Ppp1r16b	UTSW	2	158761463	missense	possibly damaging	0.87
R2923:Ppp1r16b	UTSW	2	158756957	missense	probably damaging	1.00
R3907:Ppp1r16b	UTSW	2	158761490	missense	probably benign	0.00
R4344:Ppp1r16b	UTSW	2	158749186	missense	probably damaging	1.00
R4373:Ppp1r16b	UTSW	2	158761765	missense	probably damaging	1.00
R4423:Ppp1r16b	UTSW	2	158757254	missense	probably benign	0.00
R4424:Ppp1r16b	UTSW	2	158757254	missense	probably benign	0.00
R4425:Ppp1r16b	UTSW	2	158757254	missense	probably benign	0.00
R4623:Ppp1r16b	UTSW	2	158761463	missense	possibly damaging	0.87
R5436:Ppp1r16b	UTSW	2	158757333	intron	probably benign
R6029:Ppp1r16b	UTSW	2	158755217	missense	possibly damaging	0.74
R6119:Ppp1r16b	UTSW	2	158751127	missense	probably benign	0.00
R6816:Ppp1r16b	UTSW	2	158761675	missense	probably benign	0.00
R6941:Ppp1r16b	UTSW	2	158696148	missense	probably damaging	1.00
R7048:Ppp1r16b	UTSW	2	158757254	missense	probably benign	0.00
R7101:Ppp1r16b	UTSW	2	158761763	missense	probably damaging	1.00
R7490:Ppp1r16b	UTSW	2	158761468	missense	probably damaging	0.99
R8300:Ppp1r16b	UTSW	2	158746651	missense	probably damaging	0.98
R8359:Ppp1r16b	UTSW	2	158761375	missense	probably benign
R8677:Ppp1r16b	UTSW	2	158751178	missense	probably damaging	1.00
R8678:Ppp1r16b	UTSW	2	158751178	missense	probably damaging	1.00
R8678:Ppp1r16b	UTSW	2	158757022	missense	probably damaging	1.00
R8679:Ppp1r16b	UTSW	2	158751178	missense	probably damaging	1.00
R8711:Ppp1r16b	UTSW	2	158761366	missense	possibly damaging	0.88
R8755:Ppp1r16b	UTSW	2	158751178	missense	probably damaging	1.00
R8756:Ppp1r16b	UTSW	2	158751178	missense	probably damaging	1.00
R8758:Ppp1r16b	UTSW	2	158751178	missense	probably damaging	1.00
X0064:Ppp1r16b	UTSW	2	158751127	missense	probably benign	0.00
Z1177:Ppp1r16b	UTSW	2	158761434	missense	probably benign	0.18
Z1177:Ppp1r16b	UTSW	2	158761814	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACCATACAGAGCCTGGTG -3'
(R):5'- AATGGGTGACTGAGCAGCTTG -3'

Sequencing Primer
(F):5'- TGCCCCAGAGCTACATAGGAG -3'
(R):5'- TTGAAGCCACTCCAGGGTG -3'

Posted On

2019-06-26