Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01546:Ppp4r3b'

90351

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 #

IGL01546

Quality Score

Status

Chromosome

Chromosomal Location

29122890-29170797 bp(+) (GRCm39)

Type of Mutation

splice site (2 bp from exon)

DNA Base Change (assembly)

T to C at 29159488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117918 (fasta)

Gene Model

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

AlphaFold

Q922R5

Predicted Effect

probably null
Transcript: ENSMUST00000020755

SMART Domains

Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463

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

possibly damaging
Transcript: ENSMUST00000102856
AA Change: V614A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: V614A

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 null
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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amdhd2	C	A	17: 24,382,574 (GRCm39)	R22L	probably benign	Het
Arg2	T	C	12: 79,196,633 (GRCm39)		probably benign	Het
Catip	T	C	1: 74,401,954 (GRCm39)	L43P	probably damaging	Het
Ccdc30	A	C	4: 119,255,385 (GRCm39)	L123R	probably damaging	Het
Cep89	T	C	7: 35,120,325 (GRCm39)	L369P	probably damaging	Het
Dolpp1	T	C	2: 30,287,107 (GRCm39)	F180L	probably damaging	Het
Kctd19	T	C	8: 106,113,594 (GRCm39)	H670R	probably benign	Het
Kntc1	T	A	5: 123,903,068 (GRCm39)	I315N	probably benign	Het
Mfsd4b2	A	T	10: 39,797,471 (GRCm39)	W295R	probably damaging	Het
Mgam	A	G	6: 40,631,627 (GRCm39)	T116A	probably damaging	Het
Mn1	A	T	5: 111,569,114 (GRCm39)	D1028V	probably damaging	Het
Or1e17	G	A	11: 73,832,020 (GRCm39)	G316D	probably benign	Het
Or2ag1b	A	G	7: 106,288,738 (GRCm39)	S67P	probably damaging	Het
Or52b1	T	C	7: 104,978,899 (GRCm39)	R167G	probably damaging	Het
Or52j3	A	T	7: 102,836,617 (GRCm39)	I270F	probably damaging	Het
Or7a40	A	G	16: 16,491,129 (GRCm39)	S239P	probably damaging	Het
Or7g27	T	G	9: 19,250,068 (GRCm39)	V104G	possibly damaging	Het
Phc3	C	A	3: 31,015,888 (GRCm39)	A108S	probably damaging	Het
Pkhd1l1	A	G	15: 44,429,712 (GRCm39)	Y3310C	probably damaging	Het
Slx4ip	A	G	2: 136,908,119 (GRCm39)	T159A	probably benign	Het
Sos1	T	A	17: 80,716,040 (GRCm39)	Y974F	probably damaging	Het
Spaca7b	T	A	8: 11,706,136 (GRCm39)	M133L	probably benign	Het
Taar8a	A	T	10: 23,952,813 (GRCm39)	Y139F	possibly damaging	Het
Vcam1	A	G	3: 115,909,591 (GRCm39)	C579R	possibly damaging	Het
Zdhhc17	C	T	10: 110,782,054 (GRCm39)	V547M	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
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

2013-12-03