Mutagenetix > Incidental Mutation

Incidental Mutation 'R3907:Ppp1r16b'

310234

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

040908-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

158665398-158766334 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 158761490 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 345 (I345T)

Ref Sequence

ENSEMBL: ENSMUSP00000117310 (fasta)

Gene Model

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

AlphaFold

Q8VHQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000045503
AA Change: I445T

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

SMART Domains

Protein: ENSMUSP00000039540
Gene: ENSMUSG00000037754
AA Change: I445T

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: I445T

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

SMART Domains

Protein: ENSMUSP00000062615
Gene: ENSMUSG00000037754
AA Change: I445T

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: I445T

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

SMART Domains

Protein: ENSMUSP00000099405
Gene: ENSMUSG00000037754
AA Change: I445T

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

noncoding transcript
Transcript: ENSMUST00000129902

Predicted Effect

probably benign
Transcript: ENSMUST00000145073
AA Change: I345T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000117310
Gene: ENSMUSG00000037754
AA Change: I345T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

97% (56/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,736,576	A663T	probably damaging	Het
Adamts3	C	A	5: 89,861,355	G150C	probably damaging	Het
Ampd3	A	G	7: 110,793,670	D215G	possibly damaging	Het
Ank2	A	G	3: 127,016,898	L513P	probably damaging	Het
Apba1	T	C	19: 23,937,506	I690T	probably damaging	Het
Arid1a	T	C	4: 133,692,912		probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Asns	C	T	6: 7,682,270		probably null	Het
Aspg	T	A	12: 112,112,259	Y57*	probably null	Het
Asph	T	C	4: 9,474,934	K680R	probably benign	Het
Atp2b4	A	T	1: 133,738,586	S243T	probably damaging	Het
Cacna1s	T	A	1: 136,084,269	M483K	probably damaging	Het
Car4	G	A	11: 84,964,357	V141M	probably damaging	Het
Cct4	A	G	11: 23,001,560	I376V	probably benign	Het
Chrm4	C	T	2: 91,927,739	A164V	probably damaging	Het
Csf3r	A	T	4: 126,034,447	D291V	probably benign	Het
Dcaf6	A	T	1: 165,424,380	C58*	probably null	Het
Ddi2	T	C	4: 141,684,281	D440G	probably benign	Het
Defb4	A	T	8: 19,201,261	Q48L	possibly damaging	Het
Duox2	C	T	2: 122,283,060		probably null	Het
E130308A19Rik	C	T	4: 59,752,393	T502I	probably benign	Het
Ephb1	A	G	9: 102,001,726	C522R	probably benign	Het
Fam76a	T	C	4: 132,916,121	K101E	probably damaging	Het
Fat1	G	C	8: 45,023,035	R1706T	probably benign	Het
Fn1	C	T	1: 71,607,913	G1482R	probably damaging	Het
Gm10110	T	C	14: 89,898,147		noncoding transcript	Het
Gphn	T	A	12: 78,493,942		probably benign	Het
Hars	A	T	18: 36,782,716	D48E	probably benign	Het
Hmgcll1	G	A	9: 76,072,661	R111H	probably benign	Het
Ighv3-4	A	G	12: 114,253,918	S18P	probably damaging	Het
Iws1	G	A	18: 32,079,920	E134K	possibly damaging	Het
Kcnj4	G	T	15: 79,485,745	H11Q	probably benign	Het
Krt16	A	G	11: 100,247,163	V329A	possibly damaging	Het
Loxhd1	A	T	18: 77,408,768	M1575L	possibly damaging	Het
Mapkapk2	A	T	1: 131,056,914	S234T	probably damaging	Het
Mum1	T	C	10: 80,238,316	V401A	probably damaging	Het
Mxd1	G	T	6: 86,650,960	Q199K	probably benign	Het
Nlrp5	T	A	7: 23,433,646	D905E	possibly damaging	Het
Olfr1222	A	C	2: 89,125,583	Y49*	probably null	Het
Olfr5	A	T	7: 6,480,679	V159D	probably damaging	Het
Otoa	A	T	7: 121,125,565	Q489L	probably damaging	Het
Pced1b	T	C	15: 97,384,550	S157P	probably damaging	Het
Prrt4	G	T	6: 29,177,174	L199M	probably damaging	Het
Ptpn6	T	C	6: 124,725,276	D347G	possibly damaging	Het
Rcan1	A	G	16: 92,466,029		probably benign	Het
Rif1	C	T	2: 52,112,545	L2004F	probably benign	Het
Rnf185	A	G	11: 3,426,681		probably benign	Het
Shank2	C	T	7: 144,409,576	P307L	probably damaging	Het
Slc19a3	G	A	1: 83,014,813	R396C	possibly damaging	Het
Stn1	T	C	19: 47,507,823	D321G	probably damaging	Het
Taar7a	T	C	10: 23,992,559	Y308C	probably benign	Het
Tespa1	T	C	10: 130,356,797		probably benign	Het
Tmcc2	T	C	1: 132,360,638	D359G	probably damaging	Het
Trhde	C	T	10: 114,800,696	G202E	possibly damaging	Het
Trip12	T	C	1: 84,732,106	T469A	possibly damaging	Het
Trip4	A	G	9: 65,833,426	I533T	probably benign	Het
Tsc22d1	T	C	14: 76,416,543	I154T	probably damaging	Het
Ttn	C	A	2: 76,903,342		probably benign	Het
Ugt8a	T	C	3: 125,914,982	T160A	possibly damaging	Het
Usp54	A	T	14: 20,586,113	S288T	probably damaging	Het
Utrn	C	T	10: 12,710,182		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
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
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
R9610:Ppp1r16b	UTSW	2	158696078	missense	probably damaging	1.00
R9611:Ppp1r16b	UTSW	2	158696078	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'- AACGATGATACTGATGCTATCCTC -3'
(R):5'- TTCTGCCTCCAATCAAGGGG -3'

Sequencing Primer
(F):5'- GATGATACTGATGCTATCCTCTTGTC -3'
(R):5'- GGCCTTGCCTTCGCTGC -3'

Posted On

2015-04-17