Incidental Mutation 'IGL00977:Kcnk10'
ID 28787
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk10
Ensembl Gene ENSMUSG00000033854
Gene Name potassium channel, subfamily K, member 10
Synonyms Trek2, 3010005K24Rik, 1700024D23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL00977
Quality Score
Status
Chromosome 12
Chromosomal Location 98395691-98544472 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98484792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 115 (C115S)
Ref Sequence ENSEMBL: ENSMUSP00000152473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110113] [ENSMUST00000221240] [ENSMUST00000221305]
AlphaFold Q8BUW1
Predicted Effect possibly damaging
Transcript: ENSMUST00000110113
AA Change: C101S

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105740
Gene: ENSMUSG00000033854
AA Change: C101S

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Ion_trans 55 207 9.3e-8 PFAM
Pfam:Ion_trans_2 126 204 3.3e-20 PFAM
Pfam:Ion_trans_2 223 321 8.5e-21 PFAM
low complexity region 449 462 N/A INTRINSIC
low complexity region 479 489 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000221240
AA Change: C115S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000221305
AA Change: C118S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221906
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit normal glucose hyperpolarization of hypothalamic neurons in response to glucose. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,349,284 (GRCm39) F3619L probably damaging Het
Asic5 T A 3: 81,911,953 (GRCm39) V183E possibly damaging Het
Atp2b1 T C 10: 98,822,837 (GRCm39) V164A possibly damaging Het
Bend3 A G 10: 43,386,945 (GRCm39) Q446R possibly damaging Het
Ccdc80 C A 16: 44,916,627 (GRCm39) T461K probably benign Het
Cep350 T A 1: 155,808,611 (GRCm39) E655V probably null Het
Chi3l1 T C 1: 134,115,711 (GRCm39) F232L possibly damaging Het
Degs1 T A 1: 182,106,774 (GRCm39) I162F probably benign Het
Dhdds A T 4: 133,727,571 (GRCm39) probably benign Het
Herc4 A T 10: 63,147,346 (GRCm39) Y821F probably damaging Het
Hpf1 A G 8: 61,358,753 (GRCm39) H303R probably benign Het
Map3k13 T C 16: 21,740,514 (GRCm39) S614P probably benign Het
Me2 A T 18: 73,924,248 (GRCm39) N321K probably benign Het
Med16 A T 10: 79,743,459 (GRCm39) M1K probably null Het
Mycbp2 A G 14: 103,410,078 (GRCm39) F2651L probably damaging Het
Prrc2b C T 2: 32,103,822 (GRCm39) T1100I probably benign Het
Scn9a T A 2: 66,314,645 (GRCm39) Q1680L probably damaging Het
Sh3rf2 A G 18: 42,244,283 (GRCm39) T250A probably benign Het
Sting1 C T 18: 35,867,620 (GRCm39) E359K probably damaging Het
Tpp2 T C 1: 44,022,451 (GRCm39) F950L possibly damaging Het
Vmn2r129 C A 4: 156,686,491 (GRCm39) noncoding transcript Het
Other mutations in Kcnk10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Kcnk10 APN 12 98,456,322 (GRCm39) missense probably damaging 1.00
IGL02149:Kcnk10 APN 12 98,485,099 (GRCm39) splice site probably benign
R0467:Kcnk10 UTSW 12 98,456,204 (GRCm39) missense probably benign 0.43
R0558:Kcnk10 UTSW 12 98,402,560 (GRCm39) missense possibly damaging 0.89
R0665:Kcnk10 UTSW 12 98,406,944 (GRCm39) missense probably benign 0.00
R1033:Kcnk10 UTSW 12 98,484,929 (GRCm39) missense possibly damaging 0.93
R1036:Kcnk10 UTSW 12 98,462,445 (GRCm39) splice site probably benign
R1398:Kcnk10 UTSW 12 98,402,485 (GRCm39) missense probably damaging 0.99
R1482:Kcnk10 UTSW 12 98,456,207 (GRCm39) missense probably damaging 0.99
R1675:Kcnk10 UTSW 12 98,462,547 (GRCm39) missense probably benign 0.31
R2858:Kcnk10 UTSW 12 98,401,548 (GRCm39) missense possibly damaging 0.64
R2871:Kcnk10 UTSW 12 98,401,072 (GRCm39) missense probably benign 0.41
R2871:Kcnk10 UTSW 12 98,401,072 (GRCm39) missense probably benign 0.41
R3736:Kcnk10 UTSW 12 98,456,171 (GRCm39) missense probably benign 0.31
R3845:Kcnk10 UTSW 12 98,407,003 (GRCm39) missense probably benign 0.11
R4077:Kcnk10 UTSW 12 98,401,205 (GRCm39) missense probably benign 0.03
R4541:Kcnk10 UTSW 12 98,402,536 (GRCm39) missense probably damaging 1.00
R4605:Kcnk10 UTSW 12 98,456,219 (GRCm39) missense probably damaging 1.00
R4841:Kcnk10 UTSW 12 98,401,175 (GRCm39) missense probably benign 0.00
R4842:Kcnk10 UTSW 12 98,401,175 (GRCm39) missense probably benign 0.00
R4886:Kcnk10 UTSW 12 98,401,418 (GRCm39) missense possibly damaging 0.89
R4968:Kcnk10 UTSW 12 98,401,161 (GRCm39) missense probably benign 0.01
R4977:Kcnk10 UTSW 12 98,406,946 (GRCm39) missense probably benign 0.07
R5108:Kcnk10 UTSW 12 98,401,560 (GRCm39) missense probably benign 0.39
R5166:Kcnk10 UTSW 12 98,401,254 (GRCm39) missense probably damaging 0.98
R5936:Kcnk10 UTSW 12 98,456,191 (GRCm39) missense probably benign 0.12
R6193:Kcnk10 UTSW 12 98,407,031 (GRCm39) missense probably benign 0.07
R7107:Kcnk10 UTSW 12 98,485,002 (GRCm39) nonsense probably null
R7611:Kcnk10 UTSW 12 98,484,899 (GRCm39) missense probably damaging 1.00
R7687:Kcnk10 UTSW 12 98,401,355 (GRCm39) missense probably damaging 0.97
R8225:Kcnk10 UTSW 12 98,406,849 (GRCm39) critical splice donor site probably null
R8270:Kcnk10 UTSW 12 98,401,358 (GRCm39) missense
R9040:Kcnk10 UTSW 12 98,401,098 (GRCm39) missense probably benign 0.00
R9094:Kcnk10 UTSW 12 98,484,775 (GRCm39) missense probably benign 0.01
X0067:Kcnk10 UTSW 12 98,485,083 (GRCm39) missense possibly damaging 0.88
Posted On 2013-04-17