Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Ppp4r3b'

304669

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 #

IGL02713

Quality Score

Status

Chromosome

Chromosomal Location

29172890-29220797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29188445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 264 (H264Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020755] [ENSMUST00000102856] [ENSMUST00000156280]

AlphaFold

Q922R5

Predicted Effect

probably damaging
Transcript: ENSMUST00000020755
AA Change: H264Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020755
Gene: ENSMUSG00000020463
AA Change: H264Q

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 damaging
Transcript: ENSMUST00000102856
AA Change: H264Q

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099920
Gene: ENSMUSG00000020463
AA Change: H264Q

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: 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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Acan	A	G	7: 79,100,244	T1588A	possibly damaging	Het
Apeh	A	T	9: 108,085,672	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Cd209f	T	A	8: 4,103,732	R191S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dgat1	C	A	15: 76,503,534	R291L	probably damaging	Het
Dyrk1a	C	A	16: 94,685,345		probably benign	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Ggt1	T	C	10: 75,574,344	Y37H	probably damaging	Het
Grsf1	A	T	5: 88,672,730	I64K	probably damaging	Het
Itga6	C	T	2: 71,816,713	T89I	possibly damaging	Het
Jph2	T	C	2: 163,375,917	T280A	probably damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stard13	G	A	5: 151,042,186	Q935*	probably null	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	probably damaging	Het

Other mutations in Ppp4r3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Ppp4r3b	APN	11	29211782	missense	possibly damaging	0.64
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
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

2015-04-16