Incidental Mutation 'IGL01894:Pknox2'
ID179344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pknox2
Ensembl Gene ENSMUSG00000035934
Gene NamePbx/knotted 1 homeobox 2
SynonymsD230005H23Rik, Prep2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.727) question?
Stock #IGL01894
Quality Score
Status
Chromosome9
Chromosomal Location36890982-37147407 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 36923742 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 144 (H144N)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039674] [ENSMUST00000080754] [ENSMUST00000175938] [ENSMUST00000177218]
Predicted Effect probably damaging
Transcript: ENSMUST00000039674
AA Change: H144N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035806
Gene: ENSMUSG00000035934
AA Change: H144N

DomainStartEndE-ValueType
HOX 288 353 8.54e-12 SMART
low complexity region 415 424 N/A INTRINSIC
coiled coil region 428 465 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000080754
AA Change: H144N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079578
Gene: ENSMUSG00000035934
AA Change: H144N

DomainStartEndE-ValueType
HOX 288 353 8.54e-12 SMART
low complexity region 415 424 N/A INTRINSIC
coiled coil region 428 465 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175938
Predicted Effect probably damaging
Transcript: ENSMUST00000176471
AA Change: H144N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135249
Gene: ENSMUSG00000035934
AA Change: H144N

DomainStartEndE-ValueType
Pfam:Meis_PKNOX_N 96 181 4.6e-42 PFAM
HOX 288 353 8.54e-12 SMART
low complexity region 415 424 N/A INTRINSIC
coiled coil region 428 465 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177080
SMART Domains Protein: ENSMUSP00000135444
Gene: ENSMUSG00000035934

DomainStartEndE-ValueType
HOX 259 324 4.4e-14 SMART
low complexity region 386 395 N/A INTRINSIC
coiled coil region 399 436 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177218
AA Change: H144N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135581
Gene: ENSMUSG00000035934
AA Change: H144N

DomainStartEndE-ValueType
HOX 288 353 8.54e-12 SMART
low complexity region 415 424 N/A INTRINSIC
coiled coil region 428 465 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T A 8: 55,871,830 I530L probably benign Het
Adam3 T C 8: 24,687,938 D653G probably benign Het
Car13 T C 3: 14,661,465 F227S probably damaging Het
Cdc27 T C 11: 104,526,921 N300S probably benign Het
Fat3 C T 9: 16,375,849 V793I probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gpa33 T A 1: 166,165,216 D299E probably benign Het
Kif5a C T 10: 127,262,779 V40I probably benign Het
Lama3 A G 18: 12,572,064 H1455R probably benign Het
Lamc1 T C 1: 153,247,082 K751E possibly damaging Het
Nek5 T A 8: 22,113,819 H114L probably damaging Het
Nipal1 G A 5: 72,663,539 A37T probably benign Het
Olfr1446 T C 19: 12,889,643 probably benign Het
Olfr1453 G T 19: 13,028,285 L15I probably damaging Het
Olfr538 T C 7: 140,574,770 Y206H possibly damaging Het
Pik3ca T C 3: 32,450,026 Y622H possibly damaging Het
Ppp4r4 A G 12: 103,593,138 Y526C probably damaging Het
Prdm10 A G 9: 31,316,261 D54G probably damaging Het
Rpn2 C T 2: 157,294,173 T167I probably benign Het
Slc22a30 G T 19: 8,386,657 H218Q probably benign Het
Supt6 A G 11: 78,222,838 S878P probably benign Het
Tmem184c A T 8: 77,597,146 C362* probably null Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wscd2 C T 5: 113,572,296 R294W probably damaging Het
Other mutations in Pknox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Pknox2 APN 9 36923633 missense probably damaging 1.00
IGL02706:Pknox2 APN 9 36936379 missense probably benign 0.18
IGL03018:Pknox2 APN 9 36954697 missense probably damaging 1.00
IGL03374:Pknox2 APN 9 36923670 missense probably damaging 0.98
PIT4494001:Pknox2 UTSW 9 36954691 critical splice donor site probably null
R0585:Pknox2 UTSW 9 36909760 splice site probably benign
R1786:Pknox2 UTSW 9 36909684 missense probably damaging 1.00
R1843:Pknox2 UTSW 9 36954831 missense possibly damaging 0.77
R1861:Pknox2 UTSW 9 36923661 missense probably damaging 1.00
R2252:Pknox2 UTSW 9 36910520 missense probably benign 0.12
R2696:Pknox2 UTSW 9 36909691 nonsense probably null
R2843:Pknox2 UTSW 9 36894328 missense probably benign 0.00
R4576:Pknox2 UTSW 9 36923548 intron probably benign
R4632:Pknox2 UTSW 9 36894413 missense probably benign 0.00
R4705:Pknox2 UTSW 9 36923638 missense possibly damaging 0.92
R4754:Pknox2 UTSW 9 36909720 missense probably damaging 0.98
R5974:Pknox2 UTSW 9 36936322 missense probably damaging 1.00
R5984:Pknox2 UTSW 9 36923726 missense probably damaging 1.00
R7014:Pknox2 UTSW 9 36909667 missense probably damaging 1.00
R7387:Pknox2 UTSW 9 36957068 intron probably benign
R7488:Pknox2 UTSW 9 36954831 missense probably benign 0.26
R7769:Pknox2 UTSW 9 36895306 splice site probably null
R7914:Pknox2 UTSW 9 36892823 makesense probably null
R8221:Pknox2 UTSW 9 36909744 missense possibly damaging 0.86
R8296:Pknox2 UTSW 9 36911163 missense probably benign 0.31
RF016:Pknox2 UTSW 9 36909609 critical splice donor site probably benign
RF061:Pknox2 UTSW 9 36909609 critical splice donor site probably benign
X0063:Pknox2 UTSW 9 36923769 missense probably damaging 0.96
Posted On2014-05-07