Incidental Mutation 'IGL01925:Dipk2a'
ID 180263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dipk2a
Ensembl Gene ENSMUSG00000045414
Gene Name divergent protein kinase domain 2A
Synonyms GoPro49, 1190002N15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL01925
Quality Score
Status
Chromosome 9
Chromosomal Location 94399917-94420134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 94402509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 384 (D384E)
Ref Sequence ENSEMBL: ENSMUSP00000108651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113028]
AlphaFold Q3USZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000113028
AA Change: D384E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108651
Gene: ENSMUSG00000045414
AA Change: D384E

DomainStartEndE-ValueType
low complexity region 7 38 N/A INTRINSIC
low complexity region 97 113 N/A INTRINSIC
Pfam:PIP49_C 206 405 2e-56 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,019,459 (GRCm39) D124G probably damaging Het
Arap3 C T 18: 38,117,299 (GRCm39) V926I probably benign Het
Catspere2 T A 1: 177,842,687 (GRCm39) probably benign Het
Col6a3 C T 1: 90,729,958 (GRCm39) V1176M possibly damaging Het
D5Ertd579e A T 5: 36,771,628 (GRCm39) D922E possibly damaging Het
Epm2a T A 10: 11,324,502 (GRCm39) I197N possibly damaging Het
Faim T G 9: 98,872,972 (GRCm39) probably benign Het
Fkbp15 A G 4: 62,241,450 (GRCm39) I565T probably damaging Het
Fli1 G A 9: 32,377,127 (GRCm39) P47L probably damaging Het
Gli2 T C 1: 118,781,106 (GRCm39) K187R probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hspa5 G A 2: 34,664,730 (GRCm39) V395I probably benign Het
Ide T C 19: 37,255,296 (GRCm39) T836A unknown Het
Il9 T A 13: 56,629,684 (GRCm39) probably benign Het
Ints8 C T 4: 11,235,617 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,389,245 (GRCm39) H2060L probably benign Het
Mok T C 12: 110,774,646 (GRCm39) N208S probably benign Het
Morn3 T C 5: 123,184,825 (GRCm39) K5R probably damaging Het
Nalcn C T 14: 123,529,260 (GRCm39) C1405Y possibly damaging Het
Ndufv3 T C 17: 31,746,460 (GRCm39) S117P possibly damaging Het
Ninl A T 2: 150,812,979 (GRCm39) C226S probably damaging Het
Onecut2 T C 18: 64,474,585 (GRCm39) W360R probably damaging Het
Or10al4 A G 17: 38,037,002 (GRCm39) E29G probably benign Het
Or13f5 A G 4: 52,825,910 (GRCm39) N171S probably benign Het
Or1af1 A G 2: 37,110,058 (GRCm39) T186A probably benign Het
Or2d3b T A 7: 106,514,235 (GRCm39) F277I probably damaging Het
Or2w2 T C 13: 21,758,341 (GRCm39) D95G possibly damaging Het
Or51e1 T C 7: 102,359,410 (GRCm39) S315P probably damaging Het
Rai14 A G 15: 10,595,948 (GRCm39) S118P possibly damaging Het
Serpinb7 T C 1: 107,379,399 (GRCm39) S269P probably benign Het
Sesn3 C T 9: 14,231,696 (GRCm39) T209I probably damaging Het
Slit1 T A 19: 41,596,817 (GRCm39) N1094I probably damaging Het
Tep1 C T 14: 51,061,955 (GRCm39) probably benign Het
Top1mt A G 15: 75,528,992 (GRCm39) F584S possibly damaging Het
Trim44 A T 2: 102,230,362 (GRCm39) L223Q probably benign Het
Trim69 T A 2: 121,998,397 (GRCm39) L123Q probably damaging Het
Ubr2 A T 17: 47,265,875 (GRCm39) L1153I possibly damaging Het
Unc13a G A 8: 72,087,187 (GRCm39) T1520I possibly damaging Het
Vmn2r105 A C 17: 20,428,973 (GRCm39) I701S possibly damaging Het
Wrn T C 8: 33,809,208 (GRCm39) T263A probably benign Het
Yeats2 T G 16: 19,998,430 (GRCm39) probably benign Het
Ythdf2 T C 4: 131,938,085 (GRCm39) Y37C probably damaging Het
Zfp169 T C 13: 48,644,239 (GRCm39) probably benign Het
Other mutations in Dipk2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0153:Dipk2a UTSW 9 94,406,533 (GRCm39) missense probably benign 0.17
R2109:Dipk2a UTSW 9 94,406,498 (GRCm39) missense probably damaging 0.99
R2986:Dipk2a UTSW 9 94,402,570 (GRCm39) missense probably damaging 1.00
R4623:Dipk2a UTSW 9 94,402,451 (GRCm39) missense possibly damaging 0.48
R4677:Dipk2a UTSW 9 94,402,457 (GRCm39) missense probably damaging 1.00
R4705:Dipk2a UTSW 9 94,402,688 (GRCm39) missense possibly damaging 0.68
R4876:Dipk2a UTSW 9 94,419,630 (GRCm39) missense probably damaging 0.99
R4994:Dipk2a UTSW 9 94,419,486 (GRCm39) missense probably benign 0.06
R5322:Dipk2a UTSW 9 94,402,615 (GRCm39) missense probably benign 0.00
R5425:Dipk2a UTSW 9 94,419,745 (GRCm39) missense probably damaging 0.99
R5739:Dipk2a UTSW 9 94,402,594 (GRCm39) missense possibly damaging 0.84
R6788:Dipk2a UTSW 9 94,406,502 (GRCm39) missense probably benign 0.14
R7390:Dipk2a UTSW 9 94,419,436 (GRCm39) missense probably damaging 1.00
R7557:Dipk2a UTSW 9 94,402,591 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07