Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00495:Ppp4r3b'

6073

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 #

IGL00495

Quality Score

Status

Chromosome

Chromosomal Location

29172890-29220797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 29211782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 719 (T719P)

Ref Sequence

ENSEMBL: ENSMUSP00000020755 (fasta)

Gene Model

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

AlphaFold

Q922R5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020755
AA Change: T719P

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: T719P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,415,843	T679A	probably benign	Het
Bhlhe40	T	A	6: 108,661,178	M33K	probably benign	Het
Cacna2d1	T	C	5: 16,370,609	S1059P	probably benign	Het
Cdkn1a	C	A	17: 29,098,520	A38E	possibly damaging	Het
Chrm2	A	T	6: 36,523,420	I71F	possibly damaging	Het
Cntnap5c	A	G	17: 58,162,277	Q618R	probably benign	Het
Cog5	T	A	12: 31,837,309	N476K	probably benign	Het
Dhx36	G	A	3: 62,470,558		probably benign	Het
Dnajb8	G	T	6: 88,222,854	R124L	possibly damaging	Het
Dnajc16	A	T	4: 141,763,563		probably null	Het
Dzip1	T	C	14: 118,883,394	D717G	probably benign	Het
Eps15	G	T	4: 109,309,149	V80L	probably damaging	Het
Fmn1	G	A	2: 113,444,467		probably benign	Het
Gm12185	A	G	11: 48,907,861	S602P	probably damaging	Het
Gm28539	T	G	16: 18,954,780		probably benign	Het
Grm3	T	C	5: 9,512,290	N520S	probably benign	Het
Hivep2	A	G	10: 14,142,244	N1825S	probably damaging	Het
Igfbp2	A	G	1: 72,849,128	H143R	probably benign	Het
Igsf8	T	G	1: 172,317,544	V146G	possibly damaging	Het
Kif13b	T	G	14: 64,714,113	S68A	probably benign	Het
Lrrc15	T	A	16: 30,274,030	I164F	possibly damaging	Het
Mrrf	G	A	2: 36,141,631	R53H	possibly damaging	Het
Ms4a6d	G	A	19: 11,601,885	T76I	probably damaging	Het
Pkd1l1	T	C	11: 8,868,493	R1332G	probably benign	Het
Plekha1	A	G	7: 130,877,839	Y29C	probably damaging	Het
Pnliprp1	A	T	19: 58,734,730	H221L	probably damaging	Het
Pomt2	T	C	12: 87,124,856	D380G	probably damaging	Het
Ppm1f	C	A	16: 16,910,971	T79N	possibly damaging	Het
Socs4	G	A	14: 47,290,252	V215I	probably benign	Het
Spg11	A	G	2: 122,094,456		probably null	Het
Stk31	T	A	6: 49,437,443	C459S	probably benign	Het
Ttn	A	G	2: 76,709,202	V26153A	possibly damaging	Het
Twf1	C	T	15: 94,580,936		probably benign	Het
Vrk3	A	T	7: 44,769,647	K383M	probably damaging	Het
Wdr83	A	T	8: 85,079,814	N118K	probably damaging	Het

Other mutations in Ppp4r3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5256:Ppp4r3b	UTSW	11	29188293	missense	probably benign	0.22
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

Posted On

2012-04-20