Incidental Mutation 'R2843:Pknox2'
ID 254393
Institutional Source Beutler Lab
Gene Symbol Pknox2
Ensembl Gene ENSMUSG00000035934
Gene Name Pbx/knotted 1 homeobox 2
Synonyms D230005H23Rik, Prep2
Accession Numbers
Essential gene? Possibly essential (E-score: 0.740) question?
Stock # R2843 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 36802275-37058638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36805624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 395 (N395S)
Ref Sequence ENSEMBL: ENSMUSP00000135581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039674] [ENSMUST00000080754] [ENSMUST00000175938] [ENSMUST00000177218]
AlphaFold Q8BG99
Predicted Effect probably benign
Transcript: ENSMUST00000039674
AA Change: N395S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035806
Gene: ENSMUSG00000035934
AA Change: N395S

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: ENSMUST00000080754
AA Change: N395S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000079578
Gene: ENSMUSG00000035934
AA Change: N395S

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 benign
Transcript: ENSMUST00000176471
AA Change: N395S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135249
Gene: ENSMUSG00000035934
AA Change: N395S

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: 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 benign
Transcript: ENSMUST00000177218
AA Change: N395S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135581
Gene: ENSMUSG00000035934
AA Change: N395S

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm C T 5: 90,674,324 (GRCm39) R279* probably null Het
Arhgef18 A G 8: 3,414,634 (GRCm39) E4G possibly damaging Het
Fbxw7 G A 3: 84,883,527 (GRCm39) R486Q probably damaging Het
Fhad1 G T 4: 141,632,279 (GRCm39) Q1287K probably benign Het
Hmg20b G C 10: 81,182,404 (GRCm39) R209G probably benign Het
Hydin T C 8: 111,245,746 (GRCm39) V2153A probably benign Het
Jade1 T C 3: 41,559,280 (GRCm39) Y454H probably damaging Het
Kcnn3 CGCAGCAGCAGCAGCAGCAGCAG CGCAGCAGCAGCAGCAGCAG 3: 89,427,972 (GRCm39) probably benign Het
Pdlim2 C T 14: 70,403,549 (GRCm39) V288I probably benign Het
Ppfia3 C A 7: 45,005,852 (GRCm39) R348L probably damaging Het
Rad51 T C 2: 118,949,114 (GRCm39) V38A probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Vmn2r18 T A 5: 151,485,749 (GRCm39) T582S probably damaging Het
Zbtb8os A T 4: 129,235,309 (GRCm39) E54D probably damaging Het
Zfp84 T G 7: 29,474,758 (GRCm39) probably null Het
Other mutations in Pknox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01894:Pknox2 APN 9 36,835,038 (GRCm39) missense probably damaging 1.00
IGL02019:Pknox2 APN 9 36,834,929 (GRCm39) missense probably damaging 1.00
IGL02706:Pknox2 APN 9 36,847,675 (GRCm39) missense probably benign 0.18
IGL03018:Pknox2 APN 9 36,865,993 (GRCm39) missense probably damaging 1.00
IGL03374:Pknox2 APN 9 36,834,966 (GRCm39) missense probably damaging 0.98
PIT4494001:Pknox2 UTSW 9 36,865,987 (GRCm39) critical splice donor site probably null
R0585:Pknox2 UTSW 9 36,821,056 (GRCm39) splice site probably benign
R1786:Pknox2 UTSW 9 36,820,980 (GRCm39) missense probably damaging 1.00
R1843:Pknox2 UTSW 9 36,866,127 (GRCm39) missense possibly damaging 0.77
R1861:Pknox2 UTSW 9 36,834,957 (GRCm39) missense probably damaging 1.00
R2252:Pknox2 UTSW 9 36,821,816 (GRCm39) missense probably benign 0.12
R2696:Pknox2 UTSW 9 36,820,987 (GRCm39) nonsense probably null
R4576:Pknox2 UTSW 9 36,834,844 (GRCm39) intron probably benign
R4632:Pknox2 UTSW 9 36,805,709 (GRCm39) missense probably benign 0.00
R4705:Pknox2 UTSW 9 36,834,934 (GRCm39) missense possibly damaging 0.92
R4754:Pknox2 UTSW 9 36,821,016 (GRCm39) missense probably damaging 0.98
R5974:Pknox2 UTSW 9 36,847,618 (GRCm39) missense probably damaging 1.00
R5984:Pknox2 UTSW 9 36,835,022 (GRCm39) missense probably damaging 1.00
R7014:Pknox2 UTSW 9 36,820,963 (GRCm39) missense probably damaging 1.00
R7387:Pknox2 UTSW 9 36,868,364 (GRCm39) intron probably benign
R7488:Pknox2 UTSW 9 36,866,127 (GRCm39) missense probably benign 0.26
R7769:Pknox2 UTSW 9 36,806,602 (GRCm39) splice site probably null
R8221:Pknox2 UTSW 9 36,821,040 (GRCm39) missense possibly damaging 0.86
R8296:Pknox2 UTSW 9 36,822,459 (GRCm39) missense probably benign 0.31
R8470:Pknox2 UTSW 9 36,834,986 (GRCm39) missense probably damaging 1.00
R8677:Pknox2 UTSW 9 36,821,887 (GRCm39) missense probably damaging 0.97
R8906:Pknox2 UTSW 9 36,804,167 (GRCm39) missense possibly damaging 0.82
R9026:Pknox2 UTSW 9 36,821,044 (GRCm39) missense possibly damaging 0.84
R9401:Pknox2 UTSW 9 36,835,041 (GRCm39) missense probably damaging 1.00
R9468:Pknox2 UTSW 9 36,822,495 (GRCm39) missense probably benign 0.00
R9565:Pknox2 UTSW 9 36,835,067 (GRCm39) missense probably damaging 1.00
R9582:Pknox2 UTSW 9 36,804,252 (GRCm39) missense probably damaging 0.97
RF016:Pknox2 UTSW 9 36,820,905 (GRCm39) critical splice donor site probably benign
RF061:Pknox2 UTSW 9 36,820,905 (GRCm39) critical splice donor site probably benign
X0063:Pknox2 UTSW 9 36,835,065 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGTGCACAGAACATCCCTTC -3'
(R):5'- GTGTCTAACCAGGTCTTCCC -3'

Sequencing Primer
(F):5'- TGCACAGAACATCCCTTCTTAGTAAG -3'
(R):5'- TAACCAGGTCTTCCCCATCAC -3'
Posted On 2014-12-04