Mutagenetix > Incidental Mutation

Incidental Mutation 'R5354:Ppp4r3b'

423989

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r3b

Ensembl Gene

ENSMUSG00000020463

Gene Name

protein phosphatase 4 regulatory subunit 3B

Synonyms

Smek2

MMRRC Submission

042933-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5354 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29122890-29170797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29161646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 673 (D673E)

Ref Sequence

ENSEMBL: ENSMUSP00000020755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020755] [ENSMUST00000102856] [ENSMUST00000127621]

AlphaFold

Q922R5

Predicted Effect

probably benign
Transcript: ENSMUST00000020755
AA Change: D673E

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: D673E

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

SMART Domains

Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463

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: ENSMUST00000127621

SMART Domains

Protein: ENSMUSP00000117918
Gene: ENSMUSG00000020463

Domain	Start	End	E-Value	Type
low complexity region	90	98	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127818

Predicted Effect

probably benign
Transcript: ENSMUST00000148759

Meta Mutation Damage Score

0.0716

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	G	16: 14,436,535 (GRCm39)	K196R	probably benign	Het
Ablim1	T	C	19: 57,119,355 (GRCm39)	E243G	probably benign	Het
Acat1	T	A	9: 53,500,483 (GRCm39)	E271V	possibly damaging	Het
Aco1	T	C	4: 40,180,290 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Agbl3	T	A	6: 34,791,687 (GRCm39)	H596Q	probably benign	Het
Anxa7	A	G	14: 20,514,977 (GRCm39)	L177P	possibly damaging	Het
Atp11a	A	T	8: 12,856,753 (GRCm39)	N48I	probably damaging	Het
Bcas1	T	A	2: 170,191,316 (GRCm39)	N492I	possibly damaging	Het
Bclaf1	A	G	10: 20,209,278 (GRCm39)	Y498C	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Ccdc170	G	A	10: 4,484,188 (GRCm39)	C338Y	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Ckap2	A	C	8: 22,667,581 (GRCm39)	N93K	probably damaging	Het
Clca3a1	A	T	3: 144,442,766 (GRCm39)	S759R	possibly damaging	Het
Coro1c	A	T	5: 113,984,226 (GRCm39)	I347N	possibly damaging	Het
Cpox	A	G	16: 58,491,205 (GRCm39)	T139A	probably damaging	Het
Cyp4a12b	C	A	4: 115,290,661 (GRCm39)		probably null	Het
Dctn1	T	G	6: 83,160,108 (GRCm39)	V116G	possibly damaging	Het
Dhx38	A	G	8: 110,282,378 (GRCm39)	V683A	probably damaging	Het
Dnah12	G	A	14: 26,496,299 (GRCm39)		probably null	Het
Dnajb7	T	C	15: 81,292,208 (GRCm39)	E43G	probably damaging	Het
Dsc1	A	T	18: 20,220,632 (GRCm39)	V714E	probably damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
Egfem1	T	C	3: 29,136,361 (GRCm39)		probably null	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmo1	T	C	1: 162,657,714 (GRCm39)	T476A	probably benign	Het
Gm10237	T	C	16: 35,741,099 (GRCm39)		noncoding transcript	Het
Gm14496	A	G	2: 181,642,602 (GRCm39)	S758G	probably damaging	Het
Gpat2	T	A	2: 127,270,643 (GRCm39)	L97Q	probably damaging	Het
Gpr162	T	C	6: 124,836,600 (GRCm39)	D357G	probably benign	Het
Hax1	A	T	3: 89,905,262 (GRCm39)	D34E	probably damaging	Het
Hmgcr	C	T	13: 96,791,404 (GRCm39)	V97M	probably benign	Het
Hsd3b2	T	C	3: 98,619,631 (GRCm39)	T105A	probably benign	Het
Ints1	A	G	5: 139,752,183 (GRCm39)		probably null	Het
Islr	T	C	9: 58,064,895 (GRCm39)	E204G	probably damaging	Het
Lrrc36	A	G	8: 106,151,996 (GRCm39)	N60D	probably damaging	Het
Maf1	T	C	15: 76,237,330 (GRCm39)		probably benign	Het
Mrgprb4	T	A	7: 47,848,077 (GRCm39)	R284W	probably benign	Het
Myh4	A	T	11: 67,146,551 (GRCm39)	N1508I	possibly damaging	Het
Nufip2	A	G	11: 77,577,103 (GRCm39)	H17R	unknown	Het
Oasl1	A	T	5: 115,075,055 (GRCm39)	I372L	probably damaging	Het
Or5ae1	T	A	7: 84,565,357 (GRCm39)	Y123*	probably null	Het
Or6p1	T	C	1: 174,258,252 (GRCm39)	L86P	probably damaging	Het
Pald1	A	T	10: 61,184,440 (GRCm39)	Y226N	probably damaging	Het
Pcdhb13	G	T	18: 37,577,844 (GRCm39)	G741C	probably damaging	Het
Pcdhga10	A	G	18: 37,881,259 (GRCm39)	D340G	probably damaging	Het
Pclo	C	A	5: 14,728,822 (GRCm39)		probably benign	Het
Pcsk4	G	T	10: 80,159,523 (GRCm39)	N416K	probably damaging	Het
Pde10a	C	A	17: 9,180,812 (GRCm39)	R398S	probably damaging	Het
Plin1	T	A	7: 79,375,469 (GRCm39)	T227S	possibly damaging	Het
Pnpt1	A	G	11: 29,104,166 (GRCm39)	D542G	probably damaging	Het
Prr18	C	A	17: 8,559,892 (GRCm39)	P16Q	probably damaging	Het
Psmc3	T	A	2: 90,889,698 (GRCm39)	Y440N	probably damaging	Het
Rassf5	T	C	1: 131,108,385 (GRCm39)	I232V	probably benign	Het
Rims1	T	A	1: 22,577,592 (GRCm39)	D218V	probably damaging	Het
Skint10	T	C	4: 112,568,790 (GRCm39)	N309S	possibly damaging	Het
Slc6a1	T	C	6: 114,279,584 (GRCm39)	M121T	possibly damaging	Het
Slit3	A	G	11: 35,566,740 (GRCm39)	D1004G	probably damaging	Het
Snap91	C	T	9: 86,717,177 (GRCm39)	V215I	possibly damaging	Het
Son	T	C	16: 91,452,627 (GRCm39)	L458S	probably damaging	Het
St18	C	T	1: 6,914,395 (GRCm39)	A782V	probably damaging	Het
Synpo	A	G	18: 60,735,303 (GRCm39)		probably null	Het
Thbs3	A	G	3: 89,128,684 (GRCm39)	D458G	probably damaging	Het
Tpr	C	T	1: 150,321,675 (GRCm39)	R3C	probably damaging	Het
Trp63	A	G	16: 25,503,105 (GRCm39)		probably null	Het
Vmn1r27	C	A	6: 58,192,581 (GRCm39)	R141L	probably benign	Het
Wnk1	T	C	6: 119,945,484 (GRCm39)	I699V	probably benign	Het
Xkr6	A	G	14: 64,056,353 (GRCm39)	D88G	possibly damaging	Het
Zan	A	G	5: 137,379,050 (GRCm39)		probably benign	Het
Zbtb7b	T	C	3: 89,286,913 (GRCm39)		probably benign	Het
Zfp618	A	T	4: 62,998,265 (GRCm39)	D33V	probably damaging	Het

Other mutations in Ppp4r3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Ppp4r3b	APN	11	29,161,782 (GRCm39)	missense	possibly damaging	0.64
IGL00593:Ppp4r3b	APN	11	29,147,205 (GRCm39)	missense	possibly damaging	0.88
IGL01109:Ppp4r3b	APN	11	29,138,288 (GRCm39)	missense	probably damaging	0.97
IGL01311:Ppp4r3b	APN	11	29,144,591 (GRCm39)	missense	probably benign
IGL01397:Ppp4r3b	APN	11	29,163,594 (GRCm39)	missense	probably benign	0.05
IGL01546:Ppp4r3b	APN	11	29,159,488 (GRCm39)	splice site	probably null
IGL02588:Ppp4r3b	APN	11	29,148,853 (GRCm39)	nonsense	probably null
IGL02713:Ppp4r3b	APN	11	29,138,445 (GRCm39)	missense	probably damaging	0.98
IGL02717:Ppp4r3b	APN	11	29,123,315 (GRCm39)	missense	probably benign	0.01
brando	UTSW	11	29,161,667 (GRCm39)	missense	probably benign
Debatable	UTSW	11	29,159,436 (GRCm39)	missense	possibly damaging	0.86
Kindness	UTSW	11	29,123,449 (GRCm39)	critical splice donor site	probably null
Maris	UTSW	11	29,159,356 (GRCm39)	missense	probably damaging	1.00
Stella	UTSW	11	29,146,290 (GRCm39)	missense	probably null
PIT1430001:Ppp4r3b	UTSW	11	29,159,434 (GRCm39)	missense	probably benign	0.04
PIT4677001:Ppp4r3b	UTSW	11	29,137,978 (GRCm39)	missense	probably benign
R0766:Ppp4r3b	UTSW	11	29,123,358 (GRCm39)	missense	probably benign	0.16
R1170:Ppp4r3b	UTSW	11	29,159,426 (GRCm39)	missense	probably damaging	0.99
R1312:Ppp4r3b	UTSW	11	29,123,358 (GRCm39)	missense	probably benign	0.16
R1511:Ppp4r3b	UTSW	11	29,132,460 (GRCm39)	missense	probably damaging	1.00
R1692:Ppp4r3b	UTSW	11	29,138,123 (GRCm39)	missense	probably benign	0.02
R1699:Ppp4r3b	UTSW	11	29,163,765 (GRCm39)	missense	possibly damaging	0.52
R2303:Ppp4r3b	UTSW	11	29,150,741 (GRCm39)	missense	possibly damaging	0.79
R2339:Ppp4r3b	UTSW	11	29,150,725 (GRCm39)	missense	possibly damaging	0.65
R4378:Ppp4r3b	UTSW	11	29,159,450 (GRCm39)	missense	possibly damaging	0.72
R4940:Ppp4r3b	UTSW	11	29,161,740 (GRCm39)	missense	probably benign
R5256:Ppp4r3b	UTSW	11	29,138,293 (GRCm39)	missense	probably benign	0.22
R5266:Ppp4r3b	UTSW	11	29,123,309 (GRCm39)	missense	possibly damaging	0.63
R5286:Ppp4r3b	UTSW	11	29,161,667 (GRCm39)	missense	probably benign
R5877:Ppp4r3b	UTSW	11	29,159,356 (GRCm39)	missense	probably damaging	1.00
R6364:Ppp4r3b	UTSW	11	29,138,035 (GRCm39)	missense	probably benign	0.00
R6539:Ppp4r3b	UTSW	11	29,168,503 (GRCm39)	missense	probably benign	0.00
R6773:Ppp4r3b	UTSW	11	29,155,639 (GRCm39)	missense	probably benign	0.02
R6931:Ppp4r3b	UTSW	11	29,161,786 (GRCm39)	missense	possibly damaging	0.88
R7051:Ppp4r3b	UTSW	11	29,132,507 (GRCm39)	missense	probably damaging	1.00
R7176:Ppp4r3b	UTSW	11	29,148,904 (GRCm39)	missense	probably damaging	1.00
R7569:Ppp4r3b	UTSW	11	29,138,540 (GRCm39)	missense	possibly damaging	0.91
R7741:Ppp4r3b	UTSW	11	29,155,701 (GRCm39)	missense	possibly damaging	0.78
R7746:Ppp4r3b	UTSW	11	29,123,352 (GRCm39)	missense	probably benign	0.00
R7810:Ppp4r3b	UTSW	11	29,138,086 (GRCm39)	missense	probably benign	0.02
R8129:Ppp4r3b	UTSW	11	29,159,364 (GRCm39)	missense	probably damaging	1.00
R8680:Ppp4r3b	UTSW	11	29,123,449 (GRCm39)	critical splice donor site	probably null
R8685:Ppp4r3b	UTSW	11	29,159,436 (GRCm39)	missense	possibly damaging	0.86
R8910:Ppp4r3b	UTSW	11	29,146,290 (GRCm39)	missense	probably null
R8928:Ppp4r3b	UTSW	11	29,144,598 (GRCm39)	missense	probably benign	0.00
R8947:Ppp4r3b	UTSW	11	29,150,758 (GRCm39)	missense	possibly damaging	0.63
R8954:Ppp4r3b	UTSW	11	29,155,669 (GRCm39)	missense	possibly damaging	0.64
R8991:Ppp4r3b	UTSW	11	29,123,306 (GRCm39)	start codon destroyed	probably damaging	1.00
R9068:Ppp4r3b	UTSW	11	29,159,396 (GRCm39)	missense	probably benign	0.01
R9225:Ppp4r3b	UTSW	11	29,155,648 (GRCm39)	missense	possibly damaging	0.95
R9417:Ppp4r3b	UTSW	11	29,144,598 (GRCm39)	missense	probably benign	0.00
R9487:Ppp4r3b	UTSW	11	29,124,697 (GRCm39)	missense	probably damaging	1.00
R9635:Ppp4r3b	UTSW	11	29,138,113 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTAAACTGTCTTTCTGCCACATC -3'
(R):5'- GGATCAAACTCAGGCTGTATAATTG -3'

Sequencing Primer
(F):5'- TCTGCCACATCAGTTAATTATATGAC -3'
(R):5'- CTGGAAAATCATCTTCAGTCT -3'

Posted On

2016-08-04