Incidental Mutation 'IGL02717:Ppp4r3b'
ID304808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp4r3b
Ensembl Gene ENSMUSG00000020463
Gene Nameprotein phosphatase 4 regulatory subunit 3B
SynonymsSmek2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02717
Quality Score
Status
Chromosome11
Chromosomal Location29172890-29220797 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29173315 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 G A 14: 54,261,622 probably benign Het
Adgra1 A T 7: 139,876,178 N574I probably damaging Het
Agbl2 C T 2: 90,805,868 R583W probably damaging Het
Ahnak A G 19: 9,002,387 D345G probably benign Het
Alpk1 T A 3: 127,681,100 H418L possibly damaging Het
B4gat1 C A 19: 5,038,969 probably benign Het
Cdh18 A T 15: 23,410,715 R429* probably null Het
Chd1l T C 3: 97,583,907 N423S probably damaging Het
Eef1a2 A C 2: 181,152,901 D168E probably benign Het
Eif4g2 A G 7: 111,078,113 I205T probably benign Het
Fam227b T C 2: 126,003,843 I409V probably null Het
Fsip2 A G 2: 82,951,026 probably benign Het
Hadh T C 3: 131,249,910 T52A probably benign Het
Herc1 T A 9: 66,371,921 L37* probably null Het
Hoxc4 A G 15: 103,034,847 E42G possibly damaging Het
Ifna16 T C 4: 88,676,540 D106G possibly damaging Het
Iqgap3 C A 3: 88,098,359 T498K probably benign Het
Kmt2b G A 7: 30,583,444 T1031M probably damaging Het
Olfr1000 A T 2: 85,608,772 I46N probably damaging Het
Olfr736 G T 14: 50,393,647 R297L probably damaging Het
Pilrb1 G A 5: 137,857,951 probably benign Het
Polq T A 16: 37,022,740 V212E probably damaging Het
Scn5a T A 9: 119,529,010 T722S probably benign Het
Slc7a4 C T 16: 17,574,575 V332I possibly damaging Het
Taar7b T C 10: 24,000,360 I141T probably damaging Het
Tex45 C T 8: 3,486,970 R439C probably damaging Het
Wrn T C 8: 33,343,573 Y104C probably damaging Het
Other mutations in Ppp4r3b
AlleleSourceChrCoordTypePredicted EffectPPH 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 unclassified probably null
IGL02588:Ppp4r3b APN 11 29198853 nonsense probably null
IGL02713:Ppp4r3b APN 11 29188445 missense probably damaging 0.98
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
Posted On2015-04-16