Incidental Mutation 'R9687:Pxk'
ID 728932
Institutional Source Beutler Lab
Gene Symbol Pxk
Ensembl Gene ENSMUSG00000033885
Gene Name PX domain containing serine/threonine kinase
Synonyms MONaKA, D14Ertd813e, C230080L11Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # R9687 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 14304656-14371562 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8151567 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 461 (I461V)
Ref Sequence ENSEMBL: ENSMUSP00000035265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036682] [ENSMUST00000112689] [ENSMUST00000225653]
AlphaFold Q8BX57
Predicted Effect possibly damaging
Transcript: ENSMUST00000036682
AA Change: I461V

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035265
Gene: ENSMUSG00000033885
AA Change: I461V

DomainStartEndE-ValueType
PX 17 122 1.62e-16 SMART
Pfam:Pkinase 183 441 1.1e-9 PFAM
Pfam:Pkinase_Tyr 185 309 2.5e-7 PFAM
low complexity region 483 536 N/A INTRINSIC
Pfam:WH2 549 577 1.8e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112689
AA Change: I461V

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108309
Gene: ENSMUSG00000033885
AA Change: I461V

DomainStartEndE-ValueType
PX 17 122 1.62e-16 SMART
Pfam:Pkinase_Tyr 185 309 3e-7 PFAM
Pfam:Pkinase 185 441 1.4e-10 PFAM
low complexity region 483 509 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000225653
AA Change: I461V

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,839,249 (GRCm39) L446P probably damaging Het
Abcc9 T C 6: 142,578,889 (GRCm39) T927A probably benign Het
Abraxas2 A G 7: 132,482,577 (GRCm39) T258A probably benign Het
Akna A T 4: 63,292,674 (GRCm39) C1078* probably null Het
Arhgap24 T A 5: 102,994,022 (GRCm39) F34L probably benign Het
Cpa5 C T 6: 30,614,041 (GRCm39) T61I probably benign Het
Crebrf A G 17: 26,982,601 (GRCm39) *654W probably null Het
Dchs1 C A 7: 105,407,191 (GRCm39) R2134L probably damaging Het
Dcps T C 9: 35,035,978 (GRCm39) N303D probably damaging Het
Ddhd1 C T 14: 45,848,190 (GRCm39) E527K probably damaging Het
Dnah14 T A 1: 181,425,978 (GRCm39) M174K probably benign Het
Ehd1 A G 19: 6,348,330 (GRCm39) D436G Het
Entrep1 A G 19: 23,957,029 (GRCm39) I327T probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etv1 T C 12: 38,911,361 (GRCm39) Y396H probably damaging Het
Fbxo11 A G 17: 88,316,494 (GRCm39) I293T Het
Gcfc2 T A 6: 81,918,323 (GRCm39) S338T probably damaging Het
Gm10272 T C 10: 77,542,764 (GRCm39) V102A possibly damaging Het
Gm11110 T C 17: 57,410,439 (GRCm39) T20A unknown Het
Gna14 G A 19: 16,582,350 (GRCm39) R206Q Het
Gpm6a T C 8: 55,503,209 (GRCm39) Y153H possibly damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
H2-M10.6 G A 17: 37,125,147 (GRCm39) V313I probably benign Het
Igkv8-19 T C 6: 70,318,005 (GRCm39) I74V probably benign Het
Kif24 A G 4: 41,428,546 (GRCm39) L138P probably damaging Het
Kif26a A G 12: 112,143,625 (GRCm39) E1293G probably damaging Het
Lrp1 A C 10: 127,402,562 (GRCm39) L2203R probably damaging Het
Ms4a6b A G 19: 11,497,806 (GRCm39) D35G possibly damaging Het
Myo1h A T 5: 114,458,769 (GRCm39) D184V Het
Ncdn G A 4: 126,642,467 (GRCm39) R397W probably damaging Het
Ncor1 A T 11: 62,260,193 (GRCm39) I519N possibly damaging Het
Obsl1 A G 1: 75,479,670 (GRCm39) V575A probably damaging Het
Or2y15 T C 11: 49,350,518 (GRCm39) F4S probably benign Het
Or5m8 G T 2: 85,822,220 (GRCm39) V20L probably benign Het
Or7a35 T A 10: 78,853,843 (GRCm39) I229N probably damaging Het
Osbpl5 A G 7: 143,247,598 (GRCm39) Y747H possibly damaging Het
Pcdh18 T A 3: 49,711,036 (GRCm39) D93V probably damaging Het
Ppef2 T A 5: 92,386,746 (GRCm39) D397V probably benign Het
Ppfia4 G A 1: 134,245,694 (GRCm39) T620I probably benign Het
Ppp1r9a T C 6: 4,905,978 (GRCm39) S178P probably damaging Het
Ptchd4 A G 17: 42,813,467 (GRCm39) Y456C probably damaging Het
Rab18 T A 18: 6,784,622 (GRCm39) N104K probably benign Het
Sars1 A G 3: 108,343,221 (GRCm39) L90P probably benign Het
Scaf8 T A 17: 3,221,410 (GRCm39) I299N unknown Het
Sh3bp2 C T 5: 34,716,977 (GRCm39) P463S probably benign Het
Slc12a3 A G 8: 95,075,208 (GRCm39) N734S possibly damaging Het
Slc12a7 G T 13: 73,938,796 (GRCm39) R191L probably damaging Het
Slc7a12 A G 3: 14,545,960 (GRCm39) Y35C possibly damaging Het
Spmip2 G A 3: 79,337,299 (GRCm39) D36N possibly damaging Het
Susd4 A G 1: 182,722,762 (GRCm39) probably null Het
Taar7f G A 10: 23,925,727 (GRCm39) R107K probably benign Het
Tarm1 T C 7: 3,544,457 (GRCm39) T237A probably benign Het
Tshr C A 12: 91,504,439 (GRCm39) A459E probably damaging Het
Tubgcp5 G T 7: 55,475,327 (GRCm39) probably null Het
Unc13b T C 4: 43,174,920 (GRCm39) V1916A unknown Het
Unc45b A G 11: 82,810,562 (GRCm39) D274G probably damaging Het
Vmn1r230 T A 17: 21,067,604 (GRCm39) Y264* probably null Het
Vmn2r109 G T 17: 20,775,332 (GRCm39) Q132K Het
Zbtb20 A G 16: 43,430,160 (GRCm39) S151G possibly damaging Het
Zbtb22 A C 17: 34,136,850 (GRCm39) T332P probably damaging Het
Zc3h6 A G 2: 128,859,281 (GRCm39) D1104G probably damaging Het
Zfp748 A G 13: 67,690,471 (GRCm39) V263A probably benign Het
Zhx3 A C 2: 160,623,678 (GRCm39) V163G probably benign Het
Other mutations in Pxk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Pxk APN 14 8,130,754 (GRCm38) missense probably damaging 1.00
IGL01865:Pxk APN 14 8,136,923 (GRCm38) missense possibly damaging 0.94
IGL03171:Pxk APN 14 8,151,014 (GRCm38) splice site probably benign
PIT4131001:Pxk UTSW 14 8,152,130 (GRCm38) missense probably benign 0.01
R0799:Pxk UTSW 14 8,148,123 (GRCm38) missense probably benign 0.02
R1367:Pxk UTSW 14 8,150,915 (GRCm38) splice site probably null
R1546:Pxk UTSW 14 8,164,091 (GRCm38) missense probably damaging 1.00
R1800:Pxk UTSW 14 8,151,507 (GRCm38) nonsense probably null
R1827:Pxk UTSW 14 8,151,507 (GRCm38) nonsense probably null
R1828:Pxk UTSW 14 8,151,507 (GRCm38) nonsense probably null
R1888:Pxk UTSW 14 8,151,540 (GRCm38) missense probably damaging 1.00
R1888:Pxk UTSW 14 8,151,540 (GRCm38) missense probably damaging 1.00
R1892:Pxk UTSW 14 8,151,507 (GRCm38) nonsense probably null
R1893:Pxk UTSW 14 8,151,507 (GRCm38) nonsense probably null
R3766:Pxk UTSW 14 8,136,863 (GRCm38) splice site probably benign
R4807:Pxk UTSW 14 8,144,133 (GRCm38) missense probably damaging 1.00
R4816:Pxk UTSW 14 8,136,893 (GRCm38) missense probably damaging 1.00
R4833:Pxk UTSW 14 8,130,653 (GRCm38) missense probably damaging 1.00
R4974:Pxk UTSW 14 8,140,734 (GRCm38) missense probably damaging 1.00
R5400:Pxk UTSW 14 8,136,911 (GRCm38) missense probably benign 0.45
R6075:Pxk UTSW 14 8,150,964 (GRCm38) missense probably benign 0.05
R6144:Pxk UTSW 14 8,138,011 (GRCm38) missense probably damaging 0.99
R6211:Pxk UTSW 14 8,163,952 (GRCm38) missense probably damaging 0.96
R6997:Pxk UTSW 14 8,122,371 (GRCm38) missense probably benign 0.29
R7266:Pxk UTSW 14 8,146,220 (GRCm38) missense probably benign 0.00
R7363:Pxk UTSW 14 8,152,118 (GRCm38) missense probably benign 0.01
R7949:Pxk UTSW 14 8,144,233 (GRCm38) missense probably damaging 1.00
R8302:Pxk UTSW 14 8,164,094 (GRCm38) missense probably damaging 1.00
R8754:Pxk UTSW 14 8,151,496 (GRCm38) missense probably damaging 0.98
R9250:Pxk UTSW 14 8,144,123 (GRCm38) missense probably damaging 1.00
R9670:Pxk UTSW 14 8,140,748 (GRCm38) critical splice donor site probably null
Z1176:Pxk UTSW 14 8,146,271 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTATCCCAAGAGCTTAATGTGGTC -3'
(R):5'- TCTACTGAACAGGAGCAGGG -3'

Sequencing Primer
(F):5'- GTCAAACACATAGAAGTCTCCTTGGG -3'
(R):5'- CAGACTGGGGCAGAGGCTG -3'
Posted On 2022-10-06