Incidental Mutation 'R6836:Kcnk13'
ID 534584
Institutional Source Beutler Lab
Gene Symbol Kcnk13
Ensembl Gene ENSMUSG00000045404
Gene Name potassium channel, subfamily K, member 13
Synonyms THIK-1, F730021E22Rik, LOC380778, LOC381712
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6836 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 99930758-100028941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100027948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 341 (R341L)
Ref Sequence ENSEMBL: ENSMUSP00000136882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049788] [ENSMUST00000160413] [ENSMUST00000177549]
AlphaFold Q8R1P5
Predicted Effect probably damaging
Transcript: ENSMUST00000049788
AA Change: R341L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051846
Gene: ENSMUSG00000045404
AA Change: R341L

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 damaging
Transcript: ENSMUST00000160413
AA Change: R341L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123916
Gene: ENSMUSG00000045404
AA Change: R341L

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 damaging
Transcript: ENSMUST00000177549
AA Change: R341L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136882
Gene: ENSMUSG00000045404
AA Change: R341L

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
Meta Mutation Damage Score 0.2609 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 T C 2: 26,971,718 (GRCm39) M1T probably null Het
Aim2 C G 1: 173,291,546 (GRCm39) T317R probably damaging Het
Alox8 T C 11: 69,077,331 (GRCm39) Y473C probably damaging Het
Alox8 T C 11: 69,080,715 (GRCm39) R209G possibly damaging Het
Asb5 A G 8: 55,038,106 (GRCm39) M210V probably benign Het
Atp2c2 T A 8: 120,461,154 (GRCm39) L249Q probably damaging Het
AU018091 T G 7: 3,213,986 (GRCm39) D77A probably damaging Het
Bahcc1 A T 11: 120,162,583 (GRCm39) K294* probably null Het
Baz2b C T 2: 59,747,769 (GRCm39) R1298Q probably damaging Het
Bivm T A 1: 44,182,296 (GRCm39) N501K possibly damaging Het
Bpifb5 T A 2: 154,069,985 (GRCm39) I145N probably benign Het
Casq2 A T 3: 101,994,076 (GRCm39) N41I probably damaging Het
Ccdc18 T C 5: 108,345,833 (GRCm39) L993P probably damaging Het
Cdcp3 A T 7: 130,798,233 (GRCm39) I81F possibly damaging Het
Cfap44 A G 16: 44,224,442 (GRCm39) D50G probably damaging Het
Clca3a2 T A 3: 144,512,144 (GRCm39) I91F probably damaging Het
Crebbp T A 16: 3,997,886 (GRCm39) H66L possibly damaging Het
Cyfip2 T C 11: 46,163,467 (GRCm39) T321A probably benign Het
Dido1 A G 2: 180,304,100 (GRCm39) V1268A probably benign Het
E030030I06Rik A C 10: 22,024,391 (GRCm39) V174G probably damaging Het
Gm20730 G T 6: 43,058,767 (GRCm39) probably null Het
Gm36176 T C 10: 77,682,976 (GRCm39) probably benign Het
Gper1 T A 5: 139,412,435 (GRCm39) M260K probably damaging Het
Igfbp2 T C 1: 72,888,817 (GRCm39) L89P probably damaging Het
Katnal1 T C 5: 148,830,974 (GRCm39) N200S probably damaging Het
Klhl20 T A 1: 160,932,976 (GRCm39) E277D probably benign Het
Lingo1 T C 9: 56,527,056 (GRCm39) Y517C probably damaging Het
Lrrk1 C T 7: 65,992,527 (GRCm39) E82K probably benign Het
Mtor T A 4: 148,573,955 (GRCm39) V1275D possibly damaging Het
Ncan C T 8: 70,552,965 (GRCm39) S1089N possibly damaging Het
Notch4 C T 17: 34,805,074 (GRCm39) T1643I probably damaging Het
Or13a25 A C 7: 140,248,093 (GRCm39) I298L possibly damaging Het
Or1i2 A G 10: 78,448,424 (GRCm39) L17P probably damaging Het
Or2y15 A T 11: 49,350,904 (GRCm39) T133S possibly damaging Het
Or4c10 T C 2: 89,760,683 (GRCm39) C177R probably damaging Het
Pcdhgb6 T C 18: 37,876,015 (GRCm39) V241A probably benign Het
Phf11b T A 14: 59,565,572 (GRCm39) T102S possibly damaging Het
Pkd1 T A 17: 24,800,233 (GRCm39) V2998E probably damaging Het
Ppp1r13b T C 12: 111,801,629 (GRCm39) S352G probably benign Het
Ptprh C T 7: 4,554,134 (GRCm39) V778M probably damaging Het
Ptprz1 C T 6: 23,030,664 (GRCm39) Q1008* probably null Het
Ralgapa1 A T 12: 55,651,058 (GRCm39) probably null Het
Rbm20 G A 19: 53,802,500 (GRCm39) G336E probably damaging Het
Sdsl T C 5: 120,600,167 (GRCm39) I77V probably benign Het
Serpina3b G A 12: 104,100,341 (GRCm39) E308K probably benign Het
Sfrp5 G A 19: 42,190,149 (GRCm39) T101I probably damaging Het
Slc2a13 C T 15: 91,205,835 (GRCm39) V451I probably benign Het
Slc6a9 C T 4: 117,725,083 (GRCm39) A559V possibly damaging Het
Spg11 C T 2: 121,890,016 (GRCm39) A2109T probably damaging Het
Stard9 C T 2: 120,530,324 (GRCm39) R2194C probably benign Het
Tfeb T C 17: 48,097,123 (GRCm39) probably null Het
Tiam2 T A 17: 3,464,655 (GRCm39) I128N probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tpr T G 1: 150,312,424 (GRCm39) probably null Het
Traf3ip1 T C 1: 91,448,722 (GRCm39) I456T probably benign Het
Ttll4 T A 1: 74,728,572 (GRCm39) D892E probably damaging Het
Ubr1 T A 2: 120,727,156 (GRCm39) probably null Het
Vmn2r74 T A 7: 85,606,630 (GRCm39) I239F probably benign Het
Wdfy3 C T 5: 102,100,865 (GRCm39) V251M probably damaging Het
Xylb T A 9: 119,220,820 (GRCm39) L531H probably damaging Het
Zfp960 T A 17: 17,308,434 (GRCm39) C383S probably 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
R5284:Kcnk13 UTSW 12 100,027,548 (GRCm39) missense probably benign 0.01
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
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'- TCTCCATCCTGATCAAACAGACTG -3'
(R):5'- AGCAGCTACTTCTGGTTCCTAC -3'

Sequencing Primer
(F):5'- CAGACTGTGAACTGGATCCTG -3'
(R):5'- ACTGGTCTCTGCCAACCTG -3'
Posted On 2018-09-12