Incidental Mutation 'R5284:Kcnk13'
ID 402955
Institutional Source Beutler Lab
Gene Symbol Kcnk13
Ensembl Gene ENSMUSG00000045404
Gene Name potassium channel, subfamily K, member 13
Synonyms THIK-1, F730021E22Rik, LOC380778, LOC381712
MMRRC Submission 042841-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5284 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 99930758-100028941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 100027548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 208 (I208L)
Ref Sequence ENSEMBL: ENSMUSP00000136882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049788] [ENSMUST00000160413] [ENSMUST00000177549]
AlphaFold Q8R1P5
Predicted Effect probably benign
Transcript: ENSMUST00000049788
AA Change: I208L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000051846
Gene: ENSMUSG00000045404
AA Change: I208L

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Ion_trans_2 75 151 4.7e-18 PFAM
Pfam:Ion_trans_2 195 285 3.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160413
AA Change: I208L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000123916
Gene: ENSMUSG00000045404
AA Change: I208L

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Ion_trans_2 74 151 6e-17 PFAM
Pfam:Ion_trans_2 195 285 7.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177549
AA Change: I208L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000136882
Gene: ENSMUSG00000045404
AA Change: I208L

DomainStartEndE-ValueType
low complexity region 21 36 N/A INTRINSIC
Pfam:Ion_trans_2 75 151 4.7e-18 PFAM
Pfam:Ion_trans_2 195 285 3.3e-18 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a potassium channel containing two pore-forming domains. This protein is an open channel that can be stimulated by arachidonic acid and inhibited by the anesthetic halothane. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous knockout reduces the surveillance activity of microglial cells in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T A 7: 45,630,483 (GRCm39) Q1259L probably benign Het
Arhgef26 T C 3: 62,327,052 (GRCm39) S522P probably damaging Het
Asic5 C T 3: 81,915,830 (GRCm39) P218L probably damaging Het
Atad1 T C 19: 32,664,671 (GRCm39) M248V probably benign Het
Bank1 T C 3: 135,769,915 (GRCm39) D522G probably damaging Het
Bod1l G A 5: 41,977,810 (GRCm39) S1168L probably benign Het
Cactin A G 10: 81,159,596 (GRCm39) D51G probably damaging Het
Camkk1 A G 11: 72,928,381 (GRCm39) D261G probably benign Het
Cep152 A G 2: 125,421,941 (GRCm39) S930P probably damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Crim1 A T 17: 78,620,695 (GRCm39) R378S possibly damaging Het
Dcun1d4 T C 5: 73,680,025 (GRCm39) probably null Het
Dhdds A G 4: 133,707,523 (GRCm39) V187A probably benign Het
Ecpas C T 4: 58,836,172 (GRCm39) E723K possibly damaging Het
Egfem1 A G 3: 29,704,936 (GRCm39) E251G possibly damaging Het
Ehhadh T C 16: 21,582,094 (GRCm39) probably null Het
Ep400 A G 5: 110,815,990 (GRCm39) V2724A probably damaging Het
Epb41l4a T A 18: 33,931,853 (GRCm39) T581S probably damaging Het
Erg C T 16: 95,260,102 (GRCm39) M1I probably null Het
Fastkd1 T C 2: 69,542,532 (GRCm39) T92A probably benign Het
Gabpb1 T C 2: 126,494,277 (GRCm39) H116R possibly damaging Het
Gucy2c A G 6: 136,740,041 (GRCm39) L262P possibly damaging Het
Ifi203 C T 1: 173,756,274 (GRCm39) probably benign Het
Klhl7 A G 5: 24,364,615 (GRCm39) T550A probably benign Het
Krtap12-1 G T 10: 77,556,799 (GRCm39) C114F possibly damaging Het
Myh7b A G 2: 155,474,234 (GRCm39) T1650A probably benign Het
Myo19 T A 11: 84,776,098 (GRCm39) probably null Het
Nav1 C T 1: 135,377,701 (GRCm39) W1656* probably null Het
Nup188 A T 2: 30,220,647 (GRCm39) S907C probably damaging Het
Oplah A T 15: 76,190,759 (GRCm39) H125Q probably benign Het
Or6d12 T A 6: 116,493,513 (GRCm39) Y258* probably null Het
Pcnx1 A T 12: 81,965,803 (GRCm39) T657S probably benign Het
Phf14 C A 6: 11,997,119 (GRCm39) Q796K probably damaging Het
Plaa T C 4: 94,457,874 (GRCm39) I699V probably benign Het
Prex2 C A 1: 11,336,314 (GRCm39) S1504* probably null Het
Prpf18 G A 2: 4,650,481 (GRCm39) Q50* probably null Het
Rnf213 A G 11: 119,349,692 (GRCm39) Y3851C possibly damaging Het
Rpgrip1 A G 14: 52,386,733 (GRCm39) D726G probably damaging Het
Sacm1l T C 9: 123,415,485 (GRCm39) S487P probably damaging Het
Setdb1 G T 3: 95,234,881 (GRCm39) R941S probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Smg8 G A 11: 86,971,137 (GRCm39) S878L possibly damaging Het
Trpc4 T A 3: 54,187,368 (GRCm39) V440E probably damaging Het
Tsen15 A G 1: 152,247,624 (GRCm39) S123P probably damaging Het
Tspan12 G T 6: 21,835,466 (GRCm39) A69D probably damaging Het
Ubiad1 G A 4: 148,520,955 (GRCm39) T223M probably damaging Het
Ubtfl1 A T 9: 18,320,741 (GRCm39) K90* probably null Het
Wdr19 C T 5: 65,382,752 (GRCm39) T492I probably damaging Het
Zfp423 C T 8: 88,508,305 (GRCm39) D659N possibly damaging Het
Other mutations in Kcnk13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Kcnk13 APN 12 100,027,921 (GRCm39) missense probably benign 0.06
IGL01829:Kcnk13 APN 12 100,027,257 (GRCm39) splice site probably benign
IGL01940:Kcnk13 APN 12 100,027,683 (GRCm39) missense probably benign 0.01
IGL02549:Kcnk13 APN 12 100,028,010 (GRCm39) nonsense probably null
IGL03105:Kcnk13 APN 12 100,027,369 (GRCm39) missense probably damaging 1.00
R4730:Kcnk13 UTSW 12 100,027,974 (GRCm39) missense probably damaging 0.98
R4851:Kcnk13 UTSW 12 99,932,383 (GRCm39) missense probably damaging 0.98
R5411:Kcnk13 UTSW 12 100,027,510 (GRCm39) missense probably damaging 1.00
R6254:Kcnk13 UTSW 12 99,931,631 (GRCm39) start gained probably benign
R6836:Kcnk13 UTSW 12 100,027,948 (GRCm39) missense probably damaging 0.98
R6862:Kcnk13 UTSW 12 100,027,948 (GRCm39) missense probably damaging 0.98
R6863:Kcnk13 UTSW 12 100,027,948 (GRCm39) missense probably damaging 0.98
R6897:Kcnk13 UTSW 12 100,028,026 (GRCm39) missense probably benign 0.11
R7211:Kcnk13 UTSW 12 100,028,076 (GRCm39) missense probably damaging 0.96
R7438:Kcnk13 UTSW 12 100,027,985 (GRCm39) missense probably damaging 0.99
R8031:Kcnk13 UTSW 12 99,932,438 (GRCm39) missense probably damaging 1.00
R8813:Kcnk13 UTSW 12 100,027,647 (GRCm39) missense probably damaging 1.00
Z1177:Kcnk13 UTSW 12 100,027,788 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTCATCGCCTGTGTCATGAG -3'
(R):5'- ACAGTCTGTTTGATCAGGATGG -3'

Sequencing Primer
(F):5'- GTGTCATGAGATCCTGTCACCAG -3'
(R):5'- GTAGATGCAGCAGACACCCATG -3'
Posted On 2016-07-22