Incidental Mutation 'R3888:Kctd2'
ID 312873
Institutional Source Beutler Lab
Gene Symbol Kctd2
Ensembl Gene ENSMUSG00000016940
Gene Name potassium channel tetramerisation domain containing 2
Synonyms 2310012I15Rik
MMRRC Submission 040800-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.533) question?
Stock # R3888 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 115310954-115322100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115318345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 209 (K209N)
Ref Sequence ENSEMBL: ENSMUSP00000102143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103035] [ENSMUST00000106533]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000103035
AA Change: K209N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099324
Gene: ENSMUSG00000016940
AA Change: K209N

DomainStartEndE-ValueType
low complexity region 8 43 N/A INTRINSIC
low complexity region 46 71 N/A INTRINSIC
BTB 72 175 3.45e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106533
AA Change: K209N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102143
Gene: ENSMUSG00000016940
AA Change: K209N

DomainStartEndE-ValueType
low complexity region 8 43 N/A INTRINSIC
low complexity region 46 71 N/A INTRINSIC
BTB 72 175 3.45e-19 SMART
Predicted Effect unknown
Transcript: ENSMUST00000123345
AA Change: K204N
SMART Domains Protein: ENSMUSP00000115862
Gene: ENSMUSG00000016940
AA Change: K204N

DomainStartEndE-ValueType
low complexity region 4 39 N/A INTRINSIC
low complexity region 42 67 N/A INTRINSIC
BTB 68 171 3.45e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143775
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
Acbd6 A G 1: 155,500,643 (GRCm39) D201G probably damaging Het
Adam17 G A 12: 21,375,588 (GRCm39) R744C probably damaging Het
Adss2 A G 1: 177,595,335 (GRCm39) Y402H probably damaging Het
Ano3 T A 2: 110,715,345 (GRCm39) K31I probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Cmya5 T G 13: 93,230,164 (GRCm39) R1641S probably benign Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Frem1 T C 4: 82,831,844 (GRCm39) R1991G probably benign Het
Gimap7 G A 6: 48,700,779 (GRCm39) E122K probably benign Het
Hps3 A G 3: 20,057,387 (GRCm39) probably null Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Muc5ac T C 7: 141,344,961 (GRCm39) V144A possibly damaging Het
Mypn T C 10: 63,028,289 (GRCm39) Y258C probably damaging Het
Ntf3 T C 6: 126,079,405 (GRCm39) M21V probably benign Het
Or4a71 T A 2: 89,358,076 (GRCm39) H226L possibly damaging Het
Or5b97 A T 19: 12,878,497 (GRCm39) C216S probably benign Het
Or6c1 A T 10: 129,518,088 (GRCm39) D173E probably benign Het
Or6c1 G A 10: 129,518,087 (GRCm39) H174Y possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm45 A G 2: 76,205,768 (GRCm39) S207G probably benign Het
Robo3 G A 9: 37,333,477 (GRCm39) Q723* probably null Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Slc12a6 T A 2: 112,097,375 (GRCm39) L70Q possibly damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slitrk5 T A 14: 111,917,229 (GRCm39) C284* probably null Het
Smim17 G T 7: 6,432,279 (GRCm39) G74C probably damaging Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Suv39h2 G A 2: 3,465,845 (GRCm39) T170I probably benign Het
Thrb A G 14: 18,033,551 (GRCm38) K424R probably damaging Het
Tm4sf4 C T 3: 57,345,166 (GRCm39) Q191* probably null Het
Trak1 G T 9: 121,271,863 (GRCm39) probably null Het
Ttn A G 2: 76,540,618 (GRCm39) S25796P probably damaging Het
Ugp2 T C 11: 21,303,366 (GRCm39) R80G probably benign Het
Utp15 C T 13: 98,395,674 (GRCm39) V103I probably benign Het
Wdr3 A T 3: 100,061,222 (GRCm39) S249T probably benign Het
Zeb1 T A 18: 5,748,743 (GRCm39) D86E probably damaging Het
Other mutations in Kctd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02831:Kctd2 APN 11 115,321,166 (GRCm39) makesense probably null
IGL03274:Kctd2 APN 11 115,320,208 (GRCm39) missense possibly damaging 0.68
R0066:Kctd2 UTSW 11 115,320,343 (GRCm39) intron probably benign
R0066:Kctd2 UTSW 11 115,320,343 (GRCm39) intron probably benign
R4393:Kctd2 UTSW 11 115,320,326 (GRCm39) intron probably benign
R4868:Kctd2 UTSW 11 115,320,205 (GRCm39) missense probably damaging 0.99
R7248:Kctd2 UTSW 11 115,312,845 (GRCm39) missense possibly damaging 0.46
R8254:Kctd2 UTSW 11 115,311,174 (GRCm39) missense unknown
R8485:Kctd2 UTSW 11 115,320,434 (GRCm39) intron probably benign
R8527:Kctd2 UTSW 11 115,320,310 (GRCm39) intron probably benign
R8542:Kctd2 UTSW 11 115,320,310 (GRCm39) intron probably benign
R8768:Kctd2 UTSW 11 115,311,279 (GRCm39) missense probably damaging 1.00
R9429:Kctd2 UTSW 11 115,318,277 (GRCm39) missense probably damaging 1.00
Z1088:Kctd2 UTSW 11 115,312,813 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TGGGTGGTCTGAGAACCTACTC -3'
(R):5'- TGTGAAGCCAGAAAAGCCTC -3'

Sequencing Primer
(F):5'- TGGTCTGAGAACCTACTCCCAGG -3'
(R):5'- AGAAAAGCCTCGGTCCTCTTC -3'
Posted On 2015-04-30