Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02717:Ppp4r3b'

304808

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 #

IGL02717

Quality Score

Status

Chromosome

Chromosomal Location

29122890-29170797 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29123315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 4 (T4A)

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: T4A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: T4A

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: T4A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: T4A

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

noncoding transcript
Transcript: ENSMUST00000129876

Predicted Effect

probably benign
Transcript: ENSMUST00000156280

SMART Domains

Protein: ENSMUSP00000119241
Gene: ENSMUSG00000020463

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	G	A	14: 54,499,079 (GRCm39)		probably benign	Het
Adgra1	A	T	7: 139,456,094 (GRCm39)	N574I	probably damaging	Het
Agbl2	C	T	2: 90,636,212 (GRCm39)	R583W	probably damaging	Het
Ahnak	A	G	19: 8,979,751 (GRCm39)	D345G	probably benign	Het
Alpk1	T	A	3: 127,474,749 (GRCm39)	H418L	possibly damaging	Het
B4gat1	C	A	19: 5,088,997 (GRCm39)		probably benign	Het
Cdh18	A	T	15: 23,410,801 (GRCm39)	R429*	probably null	Het
Chd1l	T	C	3: 97,491,223 (GRCm39)	N423S	probably damaging	Het
Eef1a2	A	C	2: 180,794,694 (GRCm39)	D168E	probably benign	Het
Eif4g2	A	G	7: 110,677,320 (GRCm39)	I205T	probably benign	Het
Fam227b	T	C	2: 125,845,763 (GRCm39)	I409V	probably null	Het
Fsip2	A	G	2: 82,781,370 (GRCm39)		probably benign	Het
Hadh	T	C	3: 131,043,559 (GRCm39)	T52A	probably benign	Het
Herc1	T	A	9: 66,279,203 (GRCm39)	L37*	probably null	Het
Hoxc4	A	G	15: 102,943,273 (GRCm39)	E42G	possibly damaging	Het
Ifna16	T	C	4: 88,594,777 (GRCm39)	D106G	possibly damaging	Het
Iqgap3	C	A	3: 88,005,666 (GRCm39)	T498K	probably benign	Het
Kmt2b	G	A	7: 30,282,869 (GRCm39)	T1031M	probably damaging	Het
Or11j4	G	T	14: 50,631,104 (GRCm39)	R297L	probably damaging	Het
Or5g23	A	T	2: 85,439,116 (GRCm39)	I46N	probably damaging	Het
Pilrb1	G	A	5: 137,856,213 (GRCm39)		probably benign	Het
Polq	T	A	16: 36,843,102 (GRCm39)	V212E	probably damaging	Het
Saxo5	C	T	8: 3,536,970 (GRCm39)	R439C	probably damaging	Het
Scn5a	T	A	9: 119,358,076 (GRCm39)	T722S	probably benign	Het
Slc7a4	C	T	16: 17,392,439 (GRCm39)	V332I	possibly damaging	Het
Taar7b	T	C	10: 23,876,258 (GRCm39)	I141T	probably damaging	Het
Wrn	T	C	8: 33,833,601 (GRCm39)	Y104C	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
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

2015-04-16