Mutagenetix > Incidental Mutation

Incidental Mutation 'R5256:Ppp4r3b'

399685

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r3b

Ensembl Gene

ENSMUSG00000020463

Gene Name

protein phosphatase 4 regulatory subunit 3B

Synonyms

Smek2

MMRRC Submission

042827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29172890-29220797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29188293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 214 (F214L)

Ref Sequence

ENSEMBL: ENSMUSP00000099920 (fasta)

Gene Model

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

AlphaFold

Q922R5

Predicted Effect

probably benign
Transcript: ENSMUST00000020755
AA Change: F214L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: F214L

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: F214L

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: F214L

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: F176L

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119241
Gene: ENSMUSG00000020463
AA Change: F176L

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

0.2807

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (95/98)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730015C16Rik	C	A	4: 108,848,065		probably benign	Het
Actr1b	T	C	1: 36,700,092	H372R	probably benign	Het
Ampd2	C	A	3: 108,079,549		probably benign	Het
Anapc4	A	G	5: 52,863,594	S612G	probably benign	Het
Arhgef7	T	C	8: 11,800,811	L141P	probably damaging	Het
Atl1	A	G	12: 69,959,333	D471G	probably damaging	Het
Atrn	A	G	2: 130,946,019	D247G	probably benign	Het
Bag1	T	A	4: 40,948,022	R61W	probably damaging	Het
Card10	C	T	15: 78,778,251	R898H	probably damaging	Het
Cct6b	G	A	11: 82,764,220	A3V	probably damaging	Het
Cfap54	A	T	10: 92,935,091	L2097*	probably null	Het
Cfap54	T	C	10: 93,045,023		probably null	Het
Chd5	T	C	4: 152,372,097	F964L	probably benign	Het
Cog5	A	G	12: 31,886,205	T584A	probably benign	Het
Cpa2	T	A	6: 30,547,197	N157K	probably damaging	Het
Cpeb1	A	T	7: 81,351,839	M440K	probably damaging	Het
Cracr2a	G	A	6: 127,604,029	C56Y	probably damaging	Het
Ddb2	A	C	2: 91,236,728	L30R	probably damaging	Het
Dlk1	T	A	12: 109,459,771	I190N	probably damaging	Het
Dnajc13	T	A	9: 104,203,329	Y851F	possibly damaging	Het
Dopey1	T	A	9: 86,515,328	L895Q	probably damaging	Het
Dyx1c1	T	C	9: 72,972,080		probably null	Het
F7	G	A	8: 13,030,763	C122Y	probably damaging	Het
Frrs1	T	C	3: 116,903,100	V573A	possibly damaging	Het
Gm17541	A	T	12: 4,689,672		probably benign	Het
Gm20388	T	C	8: 122,270,436		probably benign	Het
Gm5519	A	T	19: 33,823,176	H90L	probably damaging	Het
Gm5526	T	A	1: 45,857,409		noncoding transcript	Het
Gm5709	A	T	3: 59,602,550		noncoding transcript	Het
Golga4	T	A	9: 118,556,501	V869D	possibly damaging	Het
Grm7	A	T	6: 111,358,221	Q531L	probably benign	Het
Hnrnpu	C	A	1: 178,335,893	C265F	unknown	Het
Hoxd3	G	A	2: 74,746,867	V364I	possibly damaging	Het
Hspb8	T	C	5: 116,409,473	D150G	probably damaging	Het
Hydin	C	A	8: 110,587,223	N4244K	possibly damaging	Het
Ik	A	G	18: 36,748,873	D136G	probably benign	Het
Il11ra1	T	C	4: 41,767,932		probably benign	Het
Jph1	T	C	1: 17,091,398	I347V	probably benign	Het
Klk1	T	A	7: 44,221,561		probably benign	Het
Lmcd1	T	A	6: 112,288,126		probably benign	Het
Lnx1	C	T	5: 74,685,654	C45Y	probably damaging	Het
Macc1	T	A	12: 119,446,529	M344K	possibly damaging	Het
Madcam1	A	G	10: 79,664,945	E32G	possibly damaging	Het
Mat2a	T	C	6: 72,434,333	D383G	probably benign	Het
Mpst	T	A	15: 78,413,649	I289N	probably damaging	Het
Myh6	C	T	14: 54,952,661	R1055Q	probably damaging	Het
Myh7	T	C	14: 54,979,508	K1131E	probably damaging	Het
Ndrg3	A	T	2: 156,931,205		probably benign	Het
Nebl	A	G	2: 17,433,975	S209P	probably benign	Het
Nid2	A	G	14: 19,768,208		probably null	Het
Nup188	A	T	2: 30,330,749	S945C	probably damaging	Het
Olfr1000	C	T	2: 85,608,473	V146I	probably benign	Het
Olfr251	A	G	9: 38,377,917	N12S	probably benign	Het
Olfr50	A	G	2: 36,793,673	M146V	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Patl2	A	G	2: 122,128,887	L32P	probably damaging	Het
Pcdh20	T	A	14: 88,468,377	M496L	probably benign	Het
Pdzd2	A	G	15: 12,372,942	V2369A	possibly damaging	Het
Pfn2	A	G	3: 57,847,391	V31A	probably damaging	Het
Plxna4	T	C	6: 32,251,072	N533S	probably benign	Het
Plxnb1	T	C	9: 109,114,593	F1916S	probably damaging	Het
Prox1	T	C	1: 190,161,441	D269G	probably benign	Het
Rapgef4	T	C	2: 72,034,034	F71S	probably damaging	Het
Rft1	A	G	14: 30,661,286	I94M	probably benign	Het
S100z	T	C	13: 95,478,619	I13V	probably damaging	Het
Serhl	T	A	15: 83,102,634	V117E	probably damaging	Het
Shroom1	G	A	11: 53,465,507	R336Q	probably benign	Het
Sik3	A	T	9: 46,212,254	Q1067L	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc28a1	G	A	7: 81,122,121	V118M	probably damaging	Het
Slco1a6	T	A	6: 142,132,701	I153F	probably benign	Het
Ss18l1	T	C	2: 180,061,942	Y323H	unknown	Het
Susd4	G	T	1: 182,892,259	A480S	possibly damaging	Het
Syne3	A	T	12: 104,975,880	M1K	probably null	Het
Synpo2l	A	T	14: 20,661,014	S513T	probably benign	Het
Tat	A	T	8: 109,998,334	N388I	probably benign	Het
Tbc1d1	A	G	5: 64,282,009	Y619C	probably damaging	Het
Tbk1	G	A	10: 121,570,685	T216M	probably damaging	Het
Tns1	C	T	1: 73,995,426		probably benign	Het
Trbv5	T	C	6: 41,062,384	V9A	possibly damaging	Het
Trpm5	A	G	7: 143,082,303	Y575H	probably damaging	Het
Ttn	A	T	2: 76,739,701	Y25203*	probably null	Het
Tubb3	C	A	8: 123,421,652	D441E	probably benign	Het
Usp33	T	A	3: 152,391,696	C850*	probably null	Het
Vdac1	G	A	11: 52,384,078		probably null	Het
Vmn1r232	T	C	17: 20,913,584	I251M	probably damaging	Het
Vmn2r11	T	G	5: 109,054,792	I140L	probably benign	Het
Vmn2r6	A	T	3: 64,556,842	N190K	probably benign	Het
Vps51	T	A	19: 6,070,488	H465L	probably benign	Het
Zfp318	T	G	17: 46,412,069	I1666S	probably benign	Het
Zfp446	C	T	7: 12,979,304	R90*	probably null	Het
Zgrf1	T	A	3: 127,602,445	F547I	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
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
R6364:Ppp4r3b	UTSW	11	29188035	missense	probably benign	0.00
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'- CCCGCATGTGAACTCAGTAAAC -3'
(R):5'- TGTACTGTACCCTGTAAGTCTGATG -3'

Sequencing Primer
(F):5'- GAGATTGCTGACTTAGTTACCTCAG -3'
(R):5'- ATGTCTTTTTGGCTGAGCC -3'

Posted On

2016-07-06