Incidental Mutation 'R3149:Prkx'
ID 264375
Institutional Source Beutler Lab
Gene Symbol Prkx
Ensembl Gene ENSMUSG00000035725
Gene Name protein kinase, X-linked
Synonyms Pkare
MMRRC Submission 040601-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R3149 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 76805017-76839884 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76814881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 260 (F260I)
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: F260I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045304
Gene: ENSMUSG00000035725
AA Change: F260I

DomainStartEndE-ValueType
S_TKc 46 300 5.53e-99 SMART
S_TK_X 301 355 8.04e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114044
SMART Domains Protein: ENSMUSP00000109678
Gene: ENSMUSG00000035725

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
Meta Mutation Damage Score 0.7454 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 G A 17: 57,183,348 (GRCm39) A30T probably benign Het
Atox1 A G 11: 55,341,379 (GRCm39) L52P possibly damaging Het
Cel T C 2: 28,446,143 (GRCm39) D576G probably benign Het
Csf2ra C A 19: 61,215,758 (GRCm39) A16S possibly damaging Het
Cyp4f18 T C 8: 72,747,044 (GRCm39) D317G possibly damaging Het
Dus1l T C 11: 120,683,930 (GRCm39) T173A possibly damaging Het
Dzip1 T C 14: 119,148,780 (GRCm39) T300A probably benign Het
Ggta1 A T 2: 35,292,635 (GRCm39) I224N probably damaging Het
Gm5150 A G 3: 16,060,479 (GRCm39) L3P probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gm7137 T C 10: 77,623,839 (GRCm39) probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hoxa13 G T 6: 52,237,284 (GRCm39) probably benign Het
Ift46 A G 9: 44,695,045 (GRCm39) D65G probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Mapk11 T C 15: 89,029,653 (GRCm39) probably null Het
Mettl25 T C 10: 105,662,214 (GRCm39) D252G probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Or10ab4 C T 7: 107,654,989 (GRCm39) R267C probably benign Het
Pecam1 A G 11: 106,575,107 (GRCm39) V601A possibly damaging Het
Rassf9 A T 10: 102,380,687 (GRCm39) D21V possibly damaging Het
Rmnd5a T A 6: 71,406,085 (GRCm39) I68L probably benign Het
Rock2 T C 12: 17,015,092 (GRCm39) S762P probably damaging Het
Septin4 T C 11: 87,458,070 (GRCm39) V148A possibly damaging Het
Srgap2 T C 1: 131,220,327 (GRCm39) T216A probably benign Het
Tasor2 G A 13: 3,624,359 (GRCm39) P1182S probably damaging Het
Vmn1r86 T A 7: 12,836,358 (GRCm39) K123* probably null Het
Vmn2r68 A C 7: 84,886,875 (GRCm39) V13G probably benign Het
Vps13d G C 4: 144,853,147 (GRCm39) N2322K possibly damaging Het
Xpo5 A G 17: 46,553,173 (GRCm39) probably null Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly damaging Het
Other mutations in Prkx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03218:Prkx APN X 76,829,806 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCGTTAATTTCAACACTGTCCATC -3'
(R):5'- CAAGCAGTGGATCCATTTGAC -3'

Sequencing Primer
(F):5'- AACTGAAACGTTTTTCTTTCCTGGTG -3'
(R):5'- CTCTACTAAATATCCATGCTTCT -3'
Posted On 2015-02-05