Mutagenetix > Incidental Mutation

Incidental Mutation 'R7490:Ppp1r16b'

580657

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r16b

Ensembl Gene

ENSMUSG00000037754

Gene Name

protein phosphatase 1, regulatory subunit 16B

Synonyms

C130078N17Rik, Wdt4, ANKRD4

MMRRC Submission

045564-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7490 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

158508653-158608254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 158603388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 438 (Y438H)

Ref Sequence

ENSEMBL: ENSMUSP00000039540 (fasta)

Gene Model

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

AlphaFold

Q8VHQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000045503
AA Change: Y438H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: Y438H

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 damaging
Transcript: ENSMUST00000052927
AA Change: Y438H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: Y438H

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 damaging
Transcript: ENSMUST00000103116
AA Change: Y438H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: Y438H

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: Y338H

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: Y338H

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: 98.8%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	C	1: 53,202,389 (GRCm39)	D132G	possibly damaging	Het
Abca5	T	C	11: 110,168,437 (GRCm39)	E1424G	possibly damaging	Het
Adamts4	C	T	1: 171,084,169 (GRCm39)	Q549*	probably null	Het
Adcy4	A	G	14: 56,007,890 (GRCm39)	I893T	possibly damaging	Het
Ago1	A	T	4: 126,333,298 (GRCm39)	*858R	probably null	Het
Ank2	T	A	3: 126,752,538 (GRCm39)	I393L	probably damaging	Het
Ankrd44	T	C	1: 54,687,459 (GRCm39)	T987A	probably benign	Het
Ap2a1	G	T	7: 44,552,213 (GRCm39)	N790K	probably benign	Het
Aqr	A	G	2: 113,989,349 (GRCm39)		probably null	Het
Arel1	G	T	12: 84,988,685 (GRCm39)	F21L	probably damaging	Het
Atp1a3	T	C	7: 24,686,895 (GRCm39)	D743G	probably damaging	Het
Atp9a	A	T	2: 168,517,272 (GRCm39)	F354I	probably benign	Het
Bag6	A	G	17: 35,359,818 (GRCm39)	H259R	unknown	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TGGTT	TGGTTCTGTGGTCACGGGTT	3: 95,795,498 (GRCm39)		probably benign	Het
BC028528	GTCACTGGTTCTGTG	GTCACTGGTTCTGTGTTCACTGGTTCTGTG	3: 95,795,478 (GRCm39)		probably benign	Het
Bckdk	T	A	7: 127,504,145 (GRCm39)	S15T	unknown	Het
C4b	G	T	17: 34,950,054 (GRCm39)	Y1405*	probably null	Het
Camk4	G	A	18: 33,072,598 (GRCm39)		probably null	Het
Car11	T	A	7: 45,349,742 (GRCm39)	W16R	probably benign	Het
Ccdc80	A	C	16: 44,916,763 (GRCm39)	E506D	probably damaging	Het
Chmp6	C	T	11: 119,806,269 (GRCm39)	Q32*	probably null	Het
Colq	G	A	14: 31,267,043 (GRCm39)	P166S	possibly damaging	Het
Ctxn3	T	C	18: 57,610,357 (GRCm39)	M58T	probably damaging	Het
Cxcl3	A	T	5: 90,934,516 (GRCm39)	I93L	unknown	Het
Dnaaf2	T	C	12: 69,244,380 (GRCm39)	Y227C	probably damaging	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dnmt3a	G	A	12: 3,954,204 (GRCm39)	G792D	probably damaging	Het
Dsg4	T	A	18: 20,584,993 (GRCm39)		probably null	Het
Ecm2	C	T	13: 49,683,818 (GRCm39)	Q599*	probably null	Het
Fbxl13	T	A	5: 21,728,058 (GRCm39)	R550*	probably null	Het
Gm4302	A	T	10: 100,177,445 (GRCm39)	Q243L	unknown	Het
Gm7168	A	T	17: 14,169,275 (GRCm39)	Y214F	probably benign	Het
Gtf3c1	C	T	7: 125,246,663 (GRCm39)	D1549N	probably damaging	Het
Gtf3c5	A	T	2: 28,461,153 (GRCm39)	D320E	probably damaging	Het
Hivep1	T	A	13: 42,311,126 (GRCm39)	V1122D	probably damaging	Het
Ibtk	T	C	9: 85,600,987 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,264,985 (GRCm39)	Q1077L	probably damaging	Het
Ivd	A	T	2: 118,707,373 (GRCm39)	M296L	possibly damaging	Het
Katnal1	T	C	5: 148,828,492 (GRCm39)	D318G	probably null	Het
L3mbtl3	C	T	10: 26,215,129 (GRCm39)	V194I	unknown	Het
Malt1	C	A	18: 65,581,282 (GRCm39)	Q237K	probably benign	Het
Marchf11	C	T	15: 26,311,187 (GRCm39)	A221V	possibly damaging	Het
Nfe2l3	A	G	6: 51,434,524 (GRCm39)	I361M	possibly damaging	Het
Nrg1	G	A	8: 32,308,682 (GRCm39)	R493C	probably damaging	Het
Oga	G	A	19: 45,755,886 (GRCm39)	R586*	probably null	Het
Or10g9b	T	A	9: 39,917,720 (GRCm39)	H175L	probably damaging	Het
Or2f1	T	C	6: 42,721,739 (GRCm39)	I256T	probably damaging	Het
Or4c107	A	C	2: 88,789,392 (GRCm39)	Y194S	probably benign	Het
Or51g2	G	A	7: 102,623,017 (GRCm39)	P61S	probably damaging	Het
Or5ar1	A	T	2: 85,671,307 (GRCm39)	V276E	probably damaging	Het
Or7g16	A	T	9: 18,727,229 (GRCm39)	Y120*	probably null	Het
Orai3	C	T	7: 127,372,799 (GRCm39)	A100V	possibly damaging	Het
Oxsm	T	A	14: 16,241,066 (GRCm38)	M328L	probably benign	Het
Pan2	T	C	10: 128,144,309 (GRCm39)	V186A	probably benign	Het
Pkd1l1	T	A	11: 8,866,265 (GRCm39)	D980V		Het
Ppp4c	A	T	7: 126,386,504 (GRCm39)	H164Q	probably damaging	Het
Prl8a2	C	A	13: 27,536,753 (GRCm39)	T125K	possibly damaging	Het
Rasa2	T	C	9: 96,448,175 (GRCm39)	N494S	possibly damaging	Het
Rpl18a	T	C	8: 71,348,150 (GRCm39)	D147G	probably benign	Het
Scg3	T	C	9: 75,576,559 (GRCm39)	D272G	possibly damaging	Het
Serpinb6c	T	A	13: 34,077,818 (GRCm39)	D184V	probably benign	Het
Simc1	T	G	13: 54,672,162 (GRCm39)	L170R	possibly damaging	Het
Slx4	T	C	16: 3,797,995 (GRCm39)	E1463G	possibly damaging	Het
Stk31	T	A	6: 49,416,166 (GRCm39)		probably null	Het
Tas1r3	A	G	4: 155,946,480 (GRCm39)	I375T	probably damaging	Het
Tbc1d24	T	C	17: 24,401,494 (GRCm39)	D405G	probably damaging	Het
Tcerg1l	G	A	7: 137,861,557 (GRCm39)	P391S	probably damaging	Het
Tiam1	T	C	16: 89,695,083 (GRCm39)	S125G	probably benign	Het
Trim16	C	A	11: 62,724,949 (GRCm39)	H246N	probably damaging	Het
Tti1	T	A	2: 157,837,392 (GRCm39)	N896I	probably damaging	Het
Ubash3a	A	G	17: 31,451,286 (GRCm39)	N395S	probably damaging	Het
Uggt1	T	C	1: 36,203,589 (GRCm39)	I1014V	probably benign	Het
Vmn1r30	T	A	6: 58,412,214 (GRCm39)	Q206L	possibly damaging	Het
Washc5	T	A	15: 59,209,053 (GRCm39)	N1057I	probably benign	Het
Xpo4	GGTATTAGCGGAGT	GGT	14: 57,840,078 (GRCm39)		probably null	Het
Zcchc14	A	T	8: 122,331,756 (GRCm39)	S536T	unknown	Het

Other mutations in Ppp1r16b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Ppp1r16b	APN	2	158,598,885 (GRCm39)	missense	probably damaging	1.00
IGL01024:Ppp1r16b	APN	2	158,582,736 (GRCm39)	splice site	probably benign
IGL01080:Ppp1r16b	APN	2	158,599,092 (GRCm39)	missense	probably damaging	0.99
IGL02106:Ppp1r16b	APN	2	158,588,451 (GRCm39)	missense	possibly damaging	0.51
IGL03084:Ppp1r16b	APN	2	158,603,413 (GRCm39)	nonsense	probably null
R0037:Ppp1r16b	UTSW	2	158,599,129 (GRCm39)	missense	probably damaging	0.98
R0037:Ppp1r16b	UTSW	2	158,599,129 (GRCm39)	missense	probably damaging	0.98
R0190:Ppp1r16b	UTSW	2	158,537,983 (GRCm39)	missense	probably damaging	1.00
R0294:Ppp1r16b	UTSW	2	158,588,523 (GRCm39)	missense	probably damaging	1.00
R1735:Ppp1r16b	UTSW	2	158,603,415 (GRCm39)	missense	possibly damaging	0.94
R1746:Ppp1r16b	UTSW	2	158,588,585 (GRCm39)	critical splice donor site	probably null
R1847:Ppp1r16b	UTSW	2	158,603,355 (GRCm39)	missense	probably damaging	0.99
R2297:Ppp1r16b	UTSW	2	158,603,286 (GRCm39)	missense	possibly damaging	0.88
R2509:Ppp1r16b	UTSW	2	158,603,383 (GRCm39)	missense	possibly damaging	0.87
R2923:Ppp1r16b	UTSW	2	158,598,877 (GRCm39)	missense	probably damaging	1.00
R3907:Ppp1r16b	UTSW	2	158,603,410 (GRCm39)	missense	probably benign	0.00
R4344:Ppp1r16b	UTSW	2	158,591,106 (GRCm39)	missense	probably damaging	1.00
R4373:Ppp1r16b	UTSW	2	158,603,685 (GRCm39)	missense	probably damaging	1.00
R4423:Ppp1r16b	UTSW	2	158,599,174 (GRCm39)	missense	probably benign	0.00
R4424:Ppp1r16b	UTSW	2	158,599,174 (GRCm39)	missense	probably benign	0.00
R4425:Ppp1r16b	UTSW	2	158,599,174 (GRCm39)	missense	probably benign	0.00
R4623:Ppp1r16b	UTSW	2	158,603,383 (GRCm39)	missense	possibly damaging	0.87
R5436:Ppp1r16b	UTSW	2	158,599,253 (GRCm39)	intron	probably benign
R6029:Ppp1r16b	UTSW	2	158,597,137 (GRCm39)	missense	possibly damaging	0.74
R6119:Ppp1r16b	UTSW	2	158,593,047 (GRCm39)	missense	probably benign	0.00
R6816:Ppp1r16b	UTSW	2	158,603,595 (GRCm39)	missense	probably benign	0.00
R6941:Ppp1r16b	UTSW	2	158,538,068 (GRCm39)	missense	probably damaging	1.00
R7048:Ppp1r16b	UTSW	2	158,599,174 (GRCm39)	missense	probably benign	0.00
R7101:Ppp1r16b	UTSW	2	158,603,683 (GRCm39)	missense	probably damaging	1.00
R7255:Ppp1r16b	UTSW	2	158,603,311 (GRCm39)	missense	probably benign	0.41
R8300:Ppp1r16b	UTSW	2	158,588,571 (GRCm39)	missense	probably damaging	0.98
R8359:Ppp1r16b	UTSW	2	158,603,295 (GRCm39)	missense	probably benign
R8677:Ppp1r16b	UTSW	2	158,593,098 (GRCm39)	missense	probably damaging	1.00
R8678:Ppp1r16b	UTSW	2	158,598,942 (GRCm39)	missense	probably damaging	1.00
R8678:Ppp1r16b	UTSW	2	158,593,098 (GRCm39)	missense	probably damaging	1.00
R8679:Ppp1r16b	UTSW	2	158,593,098 (GRCm39)	missense	probably damaging	1.00
R8711:Ppp1r16b	UTSW	2	158,603,286 (GRCm39)	missense	possibly damaging	0.88
R8755:Ppp1r16b	UTSW	2	158,593,098 (GRCm39)	missense	probably damaging	1.00
R8756:Ppp1r16b	UTSW	2	158,593,098 (GRCm39)	missense	probably damaging	1.00
R8758:Ppp1r16b	UTSW	2	158,593,098 (GRCm39)	missense	probably damaging	1.00
R9610:Ppp1r16b	UTSW	2	158,537,998 (GRCm39)	missense	probably damaging	1.00
R9611:Ppp1r16b	UTSW	2	158,537,998 (GRCm39)	missense	probably damaging	1.00
X0064:Ppp1r16b	UTSW	2	158,593,047 (GRCm39)	missense	probably benign	0.00
Z1177:Ppp1r16b	UTSW	2	158,603,734 (GRCm39)	missense	probably damaging	1.00
Z1177:Ppp1r16b	UTSW	2	158,603,354 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- GTAGAGATTGGGTGTCCCTCAG -3'
(R):5'- TGCTTAAGAATGGGTGACTGAGC -3'

Sequencing Primer
(F):5'- ATTGGGTGTCCCTCAGCAGAG -3'
(R):5'- TGACTGAGCAGCTTGGC -3'

Posted On

2019-10-17