Incidental Mutation 'IGL03218:Prkx'
ID 413542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkx
Ensembl Gene ENSMUSG00000035725
Gene Name protein kinase, X-linked
Synonyms Pkare
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # IGL03218
Quality Score
Status
Chromosome X
Chromosomal Location 76805017-76839884 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76829806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 85 (L85Q)
Ref Sequence ENSEMBL: ENSMUSP00000045304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036333] [ENSMUST00000114044]
AlphaFold Q922R0
Predicted Effect probably damaging
Transcript: ENSMUST00000036333
AA Change: L85Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045304
Gene: ENSMUSG00000035725
AA Change: L85Q

DomainStartEndE-ValueType
S_TKc 46 300 5.53e-99 SMART
S_TK_X 301 355 8.04e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114044
AA Change: L85Q

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109678
Gene: ENSMUSG00000035725
AA Change: L85Q

DomainStartEndE-ValueType
Pfam:Pkinase 46 237 1.1e-59 PFAM
Pfam:Pkinase_Tyr 47 237 2.6e-33 PFAM
Pfam:Kinase-like 131 237 1.3e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,561,727 (GRCm39) probably null Het
Acot9 T A X: 154,078,207 (GRCm39) V251E possibly damaging Het
Agtpbp1 A G 13: 59,648,021 (GRCm39) S600P possibly damaging Het
Amfr A T 8: 94,726,964 (GRCm39) M157K probably damaging Het
Arvcf T C 16: 18,222,875 (GRCm39) probably benign Het
Ascc3 T C 10: 50,699,949 (GRCm39) V1924A possibly damaging Het
Atp10a T A 7: 58,438,196 (GRCm39) probably null Het
Atp1a2 T A 1: 172,116,870 (GRCm39) E249V probably null Het
C1qc A G 4: 136,617,598 (GRCm39) L166P probably damaging Het
Col4a3 C A 1: 82,620,927 (GRCm39) probably benign Het
Def8 A G 8: 124,183,175 (GRCm39) D258G probably damaging Het
Dll1 T C 17: 15,593,830 (GRCm39) D179G probably benign Het
Dnah14 C A 1: 181,582,834 (GRCm39) H3124Q probably benign Het
Fabp5 T A 3: 10,080,023 (GRCm39) probably benign Het
Fam133b C T 5: 3,604,684 (GRCm39) Q24* probably null Het
Fam13c A C 10: 70,284,599 (GRCm39) D25A possibly damaging Het
Flna A G X: 73,278,208 (GRCm39) probably null Het
Frem1 T A 4: 82,832,883 (GRCm39) T1917S probably benign Het
Frmd4b T C 6: 97,285,075 (GRCm39) T337A probably benign Het
Fxyd7 C T 7: 30,743,995 (GRCm39) probably null Het
Galnt5 T G 2: 57,889,401 (GRCm39) S334A possibly damaging Het
Gm10220 T C 5: 26,323,696 (GRCm39) K117R probably damaging Het
Gpd2 T A 2: 57,197,066 (GRCm39) L207H probably damaging Het
H2-M10.3 T A 17: 36,678,279 (GRCm39) Y182F probably damaging Het
Itga8 T C 2: 12,115,836 (GRCm39) I1018V possibly damaging Het
Letmd1 T C 15: 100,367,709 (GRCm39) F89S probably damaging Het
Mcm3ap A G 10: 76,318,567 (GRCm39) Y696C probably damaging Het
Mcpt9 A G 14: 56,264,908 (GRCm39) Y198H probably damaging Het
Mmp1b A G 9: 7,387,907 (GRCm39) V29A probably benign Het
Myom1 A G 17: 71,391,311 (GRCm39) D940G possibly damaging Het
Myzap A G 9: 71,462,871 (GRCm39) M225T probably benign Het
Naa25 A G 5: 121,564,133 (GRCm39) Y516C probably damaging Het
Nsdhl T A X: 72,000,052 (GRCm39) probably benign Het
Olfml1 A G 7: 107,170,476 (GRCm39) E121G possibly damaging Het
Or11j4 A T 14: 50,631,115 (GRCm39) M301L probably damaging Het
Or4a72 A G 2: 89,405,935 (GRCm39) V45A probably benign Het
Or8k38 A G 2: 86,488,703 (GRCm39) I33T probably benign Het
Phex C T X: 155,961,783 (GRCm39) G636E probably damaging Het
Pkd2l2 A T 18: 34,563,373 (GRCm39) I475F probably damaging Het
Polr2b T A 5: 77,463,764 (GRCm39) S54T probably benign Het
Smc1b A T 15: 84,973,914 (GRCm39) I914N probably benign Het
Susd2 A G 10: 75,478,459 (GRCm39) L39P probably benign Het
Teddm2 C T 1: 153,726,770 (GRCm39) V35I probably benign Het
Tspo T A 15: 83,455,631 (GRCm39) V6E possibly damaging Het
Vps41 G T 13: 19,013,440 (GRCm39) V353F possibly damaging Het
Wfdc18 T A 11: 83,600,033 (GRCm39) probably null Het
Wsb1 C T 11: 79,139,324 (GRCm39) S124N probably damaging Het
Zfp445 T C 9: 122,686,594 (GRCm39) E177G probably benign Het
Zfp759 G T 13: 67,287,480 (GRCm39) V344L probably benign Het
Other mutations in Prkx
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2019:Prkx UTSW X 76,809,010 (GRCm39) missense probably damaging 1.00
R2157:Prkx UTSW X 76,814,920 (GRCm39) missense probably benign 0.12
R3149:Prkx UTSW X 76,814,881 (GRCm39) missense probably damaging 0.99
R3176:Prkx UTSW X 76,814,881 (GRCm39) missense probably damaging 0.99
R3276:Prkx UTSW X 76,814,881 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02