Mutagenetix > Incidental Mutation

Incidental Mutation 'R6364:Ppp4r3b'

513427

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r3b

Ensembl Gene

ENSMUSG00000020463

Gene Name

protein phosphatase 4 regulatory subunit 3B

Synonyms

Smek2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6364 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29172890-29220797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29188035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 90 (T90S)

Ref Sequence

ENSEMBL: ENSMUSP00000119241 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020755] [ENSMUST00000102856] [ENSMUST00000156280]

AlphaFold

Q922R5

Predicted Effect

probably benign
Transcript: ENSMUST00000020755
AA Change: T128S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: T128S

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	2e-24	SMART
low complexity region	116	127	N/A	INTRINSIC
Pfam:SMK-1	168	359	3.6e-84	PFAM
low complexity region	511	519	N/A	INTRINSIC
low complexity region	800	809	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102856
AA Change: T128S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: T128S

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	2e-25	SMART
low complexity region	116	127	N/A	INTRINSIC
Pfam:SMK-1	166	359	3.8e-87	PFAM
low complexity region	511	519	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156280
AA Change: T90S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000119241
Gene: ENSMUSG00000020463
AA Change: T90S

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	6	58	2e-9	SMART
low complexity region	78	89	N/A	INTRINSIC
Pfam:SMK-1	128	194	3e-27	PFAM

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,721,814	Y234C	possibly damaging	Het
Als2cr12	G	T	1: 58,658,372	A403D	probably damaging	Het
Ambra1	C	A	2: 91,773,316	H548Q	possibly damaging	Het
Ap3d1	T	C	10: 80,710,494		probably null	Het
Apol11b	A	G	15: 77,638,058	V13A	possibly damaging	Het
Arhgdib	C	T	6: 136,932,255		probably null	Het
B3galt1	T	A	2: 68,118,672	S244T	probably damaging	Het
Bace2	A	G	16: 97,413,433	I274V	probably benign	Het
Bfsp2	A	T	9: 103,448,628	V272D	probably damaging	Het
Blm	A	T	7: 80,494,526	C782*	probably null	Het
Cfi	G	A	3: 129,872,846	S406N	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cic	C	A	7: 25,272,823	H660N	possibly damaging	Het
Cops3	A	G	11: 59,835,404		probably benign	Het
Dlec1	G	A	9: 119,121,871	V502I	possibly damaging	Het
Epop	A	G	11: 97,628,687	S199P	probably benign	Het
Evi5	G	T	5: 107,842,113	P80Q	probably damaging	Het
Faf1	T	C	4: 109,961,800	V623A	possibly damaging	Het
Fam129c	G	A	8: 71,599,089	G23S	probably benign	Het
Fam83c	T	C	2: 155,834,523	D109G	probably damaging	Het
Fam83d	T	C	2: 158,783,259		probably null	Het
Foxn3	T	C	12: 99,388,693	N71D	probably benign	Het
Gm7298	A	G	6: 121,779,443	R1016G	possibly damaging	Het
Grin2d	T	C	7: 45,858,454	E396G	possibly damaging	Het
Htra2	C	A	6: 83,053,046	V311F	probably damaging	Het
Kif6	A	T	17: 49,620,623	T33S	probably benign	Het
Kmt2c	T	C	5: 25,309,636	I3070V	probably null	Het
Krtap5-2	A	T	7: 142,175,063	C293*	probably null	Het
Lrp3	T	A	7: 35,203,709	D404V	probably benign	Het
Mc2r	T	G	18: 68,407,536	I229L	probably benign	Het
Mtnr1b	A	G	9: 15,863,004	M253T	possibly damaging	Het
Nfat5	A	G	8: 107,368,277	N531S	probably benign	Het
Npr2	T	A	4: 43,643,622	I550N	probably damaging	Het
Npy6r	T	C	18: 44,276,511	I333T	possibly damaging	Het
Nup88	C	T	11: 70,947,786	R468Q	probably benign	Het
Nup98	G	A	7: 102,176,315	T422I	probably damaging	Het
Olfr433	T	A	1: 174,042,212	H87Q	possibly damaging	Het
Oraov1	A	G	7: 144,919,268	D105G	probably benign	Het
Otud4	A	G	8: 79,646,341	N96S	probably damaging	Het
Paqr6	T	C	3: 88,365,958	F86L	probably damaging	Het
Ptbp2	A	T	3: 119,740,442	N23K	probably damaging	Het
Ralgapb	G	T	2: 158,462,109	G596V	probably damaging	Het
Rdm1	G	A	11: 101,630,242	R94H	probably benign	Het
Rergl	A	T	6: 139,500,748	F28I	probably damaging	Het
Rif1	G	T	2: 52,107,669	S1000I	probably damaging	Het
Rnf141	C	T	7: 110,821,309	A163T	possibly damaging	Het
Scaf4	G	A	16: 90,260,248	Q72*	probably null	Het
Sdk1	G	T	5: 141,962,709	S603I	probably benign	Het
Sdsl	T	C	5: 120,460,609	I147M	probably damaging	Het
Serpina6	T	C	12: 103,654,236	N85D	probably benign	Het
Serpinf2	A	G	11: 75,436,489	I204T	probably damaging	Het
Shank2	A	G	7: 144,410,409	S795G	probably benign	Het
Simc1	C	T	13: 54,524,600	Q254*	probably null	Het
Slc30a3	G	A	5: 31,088,739	P216S	possibly damaging	Het
Smim14	T	A	5: 65,453,296	I53F	probably benign	Het
Sp3	T	C	2: 72,970,941	T243A	probably benign	Het
Srpk2	A	G	5: 23,540,467	F164L	probably damaging	Het
Stard9	T	C	2: 120,713,429	F4403L	probably damaging	Het
Tbc1d30	T	C	10: 121,294,725	T267A	possibly damaging	Het
Tgm7	T	A	2: 121,096,397	R424*	probably null	Het
Tmbim6	T	C	15: 99,406,185	L113P	probably damaging	Het
Tmcc1	G	A	6: 116,043,761		probably benign	Het
Tomm7	A	G	5: 23,844,030	L15P	probably damaging	Het
Tpcn1	T	C	5: 120,553,810	Y263C	probably damaging	Het
Trim34b	T	C	7: 104,336,526	F456S	probably damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r108	A	G	17: 20,470,998	I421T	probably benign	Het
Wdr43	A	G	17: 71,657,654	E676G	probably damaging	Het
Wdr60	A	T	12: 116,241,732	D412E	probably damaging	Het
Zcchc14	G	T	8: 121,604,859		probably benign	Het
Zfp64	C	A	2: 168,912,266	G25V	probably damaging	Het
Zswim8	C	A	14: 20,713,011	P326H	probably damaging	Het

Other mutations in Ppp4r3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Ppp4r3b	APN	11	29211782	missense	possibly damaging	0.64
IGL00593:Ppp4r3b	APN	11	29197205	missense	possibly damaging	0.88
IGL01109:Ppp4r3b	APN	11	29188288	missense	probably damaging	0.97
IGL01311:Ppp4r3b	APN	11	29194591	missense	probably benign
IGL01397:Ppp4r3b	APN	11	29213594	missense	probably benign	0.05
IGL01546:Ppp4r3b	APN	11	29209488	splice site	probably null
IGL02588:Ppp4r3b	APN	11	29198853	nonsense	probably null
IGL02713:Ppp4r3b	APN	11	29188445	missense	probably damaging	0.98
IGL02717:Ppp4r3b	APN	11	29173315	missense	probably benign	0.01
brando	UTSW	11	29211667	missense	probably benign
Debatable	UTSW	11	29209436	missense	possibly damaging	0.86
Kindness	UTSW	11	29173449	critical splice donor site	probably null
Maris	UTSW	11	29209356	missense	probably damaging	1.00
Stella	UTSW	11	29196290	missense	probably null
PIT1430001:Ppp4r3b	UTSW	11	29209434	missense	probably benign	0.04
PIT4677001:Ppp4r3b	UTSW	11	29187978	missense	probably benign
R0766:Ppp4r3b	UTSW	11	29173358	missense	probably benign	0.16
R1170:Ppp4r3b	UTSW	11	29209426	missense	probably damaging	0.99
R1312:Ppp4r3b	UTSW	11	29173358	missense	probably benign	0.16
R1511:Ppp4r3b	UTSW	11	29182460	missense	probably damaging	1.00
R1692:Ppp4r3b	UTSW	11	29188123	missense	probably benign	0.02
R1699:Ppp4r3b	UTSW	11	29213765	missense	possibly damaging	0.52
R2303:Ppp4r3b	UTSW	11	29200741	missense	possibly damaging	0.79
R2339:Ppp4r3b	UTSW	11	29200725	missense	possibly damaging	0.65
R4378:Ppp4r3b	UTSW	11	29209450	missense	possibly damaging	0.72
R4940:Ppp4r3b	UTSW	11	29211740	missense	probably benign
R5256:Ppp4r3b	UTSW	11	29188293	missense	probably benign	0.22
R5266:Ppp4r3b	UTSW	11	29173309	missense	possibly damaging	0.63
R5286:Ppp4r3b	UTSW	11	29211667	missense	probably benign
R5354:Ppp4r3b	UTSW	11	29211646	missense	probably benign	0.26
R5877:Ppp4r3b	UTSW	11	29209356	missense	probably damaging	1.00
R6539:Ppp4r3b	UTSW	11	29218503	missense	probably benign	0.00
R6773:Ppp4r3b	UTSW	11	29205639	missense	probably benign	0.02
R6931:Ppp4r3b	UTSW	11	29211786	missense	possibly damaging	0.88
R7051:Ppp4r3b	UTSW	11	29182507	missense	probably damaging	1.00
R7176:Ppp4r3b	UTSW	11	29198904	missense	probably damaging	1.00
R7569:Ppp4r3b	UTSW	11	29188540	missense	possibly damaging	0.91
R7741:Ppp4r3b	UTSW	11	29205701	missense	possibly damaging	0.78
R7746:Ppp4r3b	UTSW	11	29173352	missense	probably benign	0.00
R7810:Ppp4r3b	UTSW	11	29188086	missense	probably benign	0.02
R8129:Ppp4r3b	UTSW	11	29209364	missense	probably damaging	1.00
R8680:Ppp4r3b	UTSW	11	29173449	critical splice donor site	probably null
R8685:Ppp4r3b	UTSW	11	29209436	missense	possibly damaging	0.86
R8910:Ppp4r3b	UTSW	11	29196290	missense	probably null
R8928:Ppp4r3b	UTSW	11	29194598	missense	probably benign	0.00
R8947:Ppp4r3b	UTSW	11	29200758	missense	possibly damaging	0.63
R8954:Ppp4r3b	UTSW	11	29205669	missense	possibly damaging	0.64
R8991:Ppp4r3b	UTSW	11	29173306	start codon destroyed	probably damaging	1.00
R9068:Ppp4r3b	UTSW	11	29209396	missense	probably benign	0.01
R9225:Ppp4r3b	UTSW	11	29205648	missense	possibly damaging	0.95
R9417:Ppp4r3b	UTSW	11	29194598	missense	probably benign	0.00
R9487:Ppp4r3b	UTSW	11	29174697	missense	probably damaging	1.00
R9635:Ppp4r3b	UTSW	11	29188113	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGATGCAGCATTGAGTTTCTTAC -3'
(R):5'- GGTTCTCACAAGCTTGGAATAGC -3'

Sequencing Primer
(F):5'- CCATGGCAAGGGTTTTACCAACTG -3'
(R):5'- ATTTTCCAAGGCCAGAGC -3'

Posted On

2018-04-27