Mutagenetix > Incidental Mutations

Incidental Mutation 'R8359:Ppp1r16b'

645901

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 #

R8359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158665398-158766334 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 158761375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 407 (V407L)

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: V407L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: V407L

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: V407L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: V407L

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: V407L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: V407L

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: V307L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: V307L

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 24,806,486	V315D	probably damaging	Het
Adgrf1	A	T	17: 43,310,395	I508F	probably damaging	Het
Atpaf2	T	C	11: 60,407,303	D147G	probably damaging	Het
Brwd1	T	C	16: 96,016,209	T1368A	probably damaging	Het
Cacna1s	A	T	1: 136,116,061	E1626V	probably benign	Het
Carm1	G	A	9: 21,569,469	V80I	possibly damaging	Het
Casc4	A	T	2: 121,867,151		probably benign	Het
Cenpw	T	A	10: 30,198,488	D71V	probably damaging	Het
Cit	T	A	5: 115,984,544		probably null	Het
Ckmt1	A	T	2: 121,363,050	T364S	probably benign	Het
Col6a4	T	C	9: 106,068,384	S844G	probably benign	Het
Crybg1	T	C	10: 43,992,542	E1380G	probably benign	Het
Cyp21a1	A	G	17: 34,802,131		probably null	Het
D430042O09Rik	T	C	7: 125,868,851		probably null	Het
Dhodh	A	C	8: 109,606,406	D12E	probably benign	Het
Dnali1	T	A	4: 125,063,667	T95S	probably damaging	Het
Dynlrb1	A	G	2: 155,249,950	N93D	probably benign	Het
Edem1	C	T	6: 108,846,813	A390V	probably benign	Het
Enthd1	T	C	15: 80,474,155	D388G	probably benign	Het
Fam170a	A	G	18: 50,281,610	T108A	probably damaging	Het
Fryl	A	G	5: 73,075,933	S1531P	probably benign	Het
Hspbap1	C	A	16: 35,824,996	N350K	probably benign	Het
Htr3b	A	C	9: 48,947,296	S94R	probably damaging	Het
Ide	A	T	19: 37,330,487	V42E		Het
Igf2r	A	G	17: 12,683,861	V2434A	probably benign	Het
Kif16b	G	A	2: 142,711,857	A1007V	probably benign	Het
Mccc1	C	T	3: 35,964,344	V614I	probably benign	Het
Mos	A	G	4: 3,871,097	Y240H	probably damaging	Het
Myh11	C	T	16: 14,208,231		probably null	Het
Nexn	T	A	3: 152,248,361	D166V	probably damaging	Het
Olfr1192-ps1	A	T	2: 88,652,988	M279L	probably benign	Het
Olfr328	G	T	11: 58,552,203	T12N	probably benign	Het
Olfr510	T	A	7: 108,668,311	N298K	probably benign	Het
Olfr55	G	A	17: 33,176,921	C173Y	probably damaging	Het
Pkp4	A	G	2: 59,350,551	Y1061C	probably damaging	Het
Pla2g6	T	C	15: 79,287,170	D740G	probably damaging	Het
Pla2r1	T	A	2: 60,443,283	I920L	probably benign	Het
Plekha2	A	G	8: 25,088,391	I31T	probably damaging	Het
Prss50	A	G	9: 110,862,302	I225V	probably damaging	Het
Rmdn2	A	T	17: 79,628,151	E231V		Het
Sema3c	T	C	5: 17,653,728	S42P	possibly damaging	Het
Sh2d1b1	T	A	1: 170,283,124		probably null	Het
Slc22a20	T	C	19: 5,971,526	I483V	probably benign	Het
Slc30a2	T	C	4: 134,349,379	V275A	probably damaging	Het
Slc6a3	T	A	13: 73,544,883	F207L	probably benign	Het
Slc9a1	A	T	4: 133,420,616	Q648H	probably damaging	Het
Slpi	A	T	2: 164,356,055	M1K	probably null	Het
Smc5	A	C	19: 23,234,079	S564A	possibly damaging	Het
Smchd1	A	T	17: 71,431,243	F542L	probably damaging	Het
Sycp1	T	A	3: 102,820,593	K901N	probably damaging	Het
Synpo2l	T	A	14: 20,666,140	T126S	probably benign	Het
Upp2	A	G	2: 58,777,943	N216S	probably benign	Het
Wnk1	T	C	6: 119,992,447	D349G	probably damaging	Het
Zfp180	C	T	7: 24,104,912	A252V	probably benign	Het
Zfr2	C	T	10: 81,242,819	T295I	possibly damaging	Het
Zkscan16	C	T	4: 58,957,230	T504I	possibly damaging	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
R7255:Ppp1r16b	UTSW	2	158761391	missense	probably benign	0.41
R7490:Ppp1r16b	UTSW	2	158761468	missense	probably damaging	0.99
R8300:Ppp1r16b	UTSW	2	158746651	missense	probably damaging	0.98
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'- TCTGCCCTACCATACAGAGC -3'
(R):5'- ATGGGTGACTGAGCAGCTTG -3'

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

Posted On

2020-09-02