Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00593:Ppp4r3b'

6074

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp4r3b

Ensembl Gene

ENSMUSG00000020463

Gene Name

protein phosphatase 4 regulatory subunit 3B

Synonyms

Smek2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00593

Quality Score

Status

Chromosome

Chromosomal Location

29122890-29170797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29147205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 3 (D3G)

Ref Sequence

ENSEMBL: ENSMUSP00000117918 (fasta)

Gene Model

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

AlphaFold

Q922R5

Predicted Effect

probably benign
Transcript: ENSMUST00000020755
AA Change: D410G

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: D410G

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: D410G

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: D410G

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

possibly damaging
Transcript: ENSMUST00000127621
AA Change: D3G

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117918
Gene: ENSMUSG00000020463
AA Change: D3G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139283

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr2	A	T	X: 21,352,719 (GRCm39)	K118*	probably null	Het
Akap14	A	T	X: 36,414,484 (GRCm39)	H525Q	possibly damaging	Het
Crb1	T	C	1: 139,250,983 (GRCm39)	I323V	probably benign	Het
H60b	T	C	10: 22,162,962 (GRCm39)	I179T	possibly damaging	Het
Krt34	A	G	11: 99,929,520 (GRCm39)		probably benign	Het
Mroh9	T	C	1: 162,873,350 (GRCm39)	N541D	possibly damaging	Het
Plxnb1	A	T	9: 108,942,936 (GRCm39)	I1841F	probably benign	Het
Rp1	T	C	1: 4,415,626 (GRCm39)	T1829A	possibly damaging	Het
Ssx2ip	T	C	3: 146,142,307 (GRCm39)	F468L	probably damaging	Het
Togaram1	A	G	12: 65,053,173 (GRCm39)	E1301G	probably damaging	Het
Tpd52l2	A	T	2: 181,141,689 (GRCm39)	D24V	probably damaging	Het
Trmo	A	G	4: 46,382,490 (GRCm39)	V209A	probably benign	Het
Zfp141	A	T	7: 42,124,731 (GRCm39)	C580*	probably null	Het
Zfp422	C	A	6: 116,603,919 (GRCm39)	A27S	probably benign	Het
Zfp786	A	T	6: 47,796,605 (GRCm39)	*778R	probably null	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
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
R5354:Ppp4r3b	UTSW	11	29,161,646 (GRCm39)	missense	probably benign	0.26
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

Posted On

2012-04-20