Incidental Mutation 'R3888:Kctd2'
ID312873
Institutional Source Beutler Lab
Gene Symbol Kctd2
Ensembl Gene ENSMUSG00000016940
Gene Namepotassium channel tetramerisation domain containing 2
Synonyms2310012I15Rik
MMRRC Submission 040800-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.421) question?
Stock #R3888 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location115420128-115431274 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 115427519 bp
ZygosityHeterozygous
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]
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: 85,940,551 probably null Het
Acbd6 A G 1: 155,624,897 D201G probably damaging Het
Adam17 G A 12: 21,325,587 R744C probably damaging Het
Adss A G 1: 177,767,769 Y402H probably damaging Het
Ano3 T A 2: 110,885,000 K31I probably damaging Het
B930094E09Rik G A 18: 31,609,689 S59N unknown Het
Cmya5 T G 13: 93,093,656 R1641S probably benign Het
Cps1 C A 1: 67,165,500 T493K possibly damaging Het
Dmxl1 T A 18: 49,878,259 M1161K probably damaging Het
Etl4 C T 2: 20,529,961 Q76* probably null Het
Fn1 T C 1: 71,640,306 Y511C probably damaging Het
Foxd2 T C 4: 114,908,286 H179R unknown Het
Frem1 T C 4: 82,913,607 R1991G probably benign Het
Gimap7 G A 6: 48,723,845 E122K probably benign Het
Hps3 A G 3: 20,003,223 probably null Het
Lcor T A 19: 41,558,356 S126R probably damaging Het
Lct T C 1: 128,304,226 M629V probably damaging Het
Lrp5 G A 19: 3,612,330 R173C probably damaging Het
Muc5ac T C 7: 141,791,224 V144A possibly damaging Het
Mypn T C 10: 63,192,510 Y258C probably damaging Het
Ntf3 T C 6: 126,102,442 M21V probably benign Het
Olfr1243 T A 2: 89,527,732 H226L possibly damaging Het
Olfr1447 A T 19: 12,901,133 C216S probably benign Het
Olfr802 G A 10: 129,682,218 H174Y possibly damaging Het
Olfr802 A T 10: 129,682,219 D173E probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rbm45 A G 2: 76,375,424 S207G probably benign Het
Robo3 G A 9: 37,422,181 Q723* probably null Het
Rreb1 G T 13: 37,893,965 R51L probably damaging Het
Slc12a6 T A 2: 112,267,030 L70Q possibly damaging Het
Slc15a2 A G 16: 36,782,304 F65S probably damaging Het
Slitrk5 T A 14: 111,679,797 C284* probably null Het
Smim17 G T 7: 6,429,280 G74C probably damaging Het
Snapc4 G A 2: 26,365,498 Q1005* probably null Het
Suv39h2 G A 2: 3,464,808 T170I probably benign Het
Thrb A G 14: 18,033,551 K424R probably damaging Het
Tm4sf4 C T 3: 57,437,745 Q191* probably null Het
Trak1 G T 9: 121,442,797 probably null Het
Ttn A G 2: 76,710,274 S25796P probably damaging Het
Ugp2 T C 11: 21,353,366 R80G probably benign Het
Utp15 C T 13: 98,259,166 V103I probably benign Het
Wdr3 A T 3: 100,153,906 S249T probably benign Het
Zeb1 T A 18: 5,748,743 D86E probably damaging Het
Other mutations in Kctd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02831:Kctd2 APN 11 115430340 makesense probably null
IGL03274:Kctd2 APN 11 115429382 missense possibly damaging 0.68
R0066:Kctd2 UTSW 11 115429517 intron probably benign
R0066:Kctd2 UTSW 11 115429517 intron probably benign
R4393:Kctd2 UTSW 11 115429500 intron probably benign
R4868:Kctd2 UTSW 11 115429379 missense probably damaging 0.99
R7248:Kctd2 UTSW 11 115422019 missense possibly damaging 0.46
R8254:Kctd2 UTSW 11 115420348 missense unknown
R8485:Kctd2 UTSW 11 115429608 intron probably benign
R8527:Kctd2 UTSW 11 115429484 intron probably benign
R8542:Kctd2 UTSW 11 115429484 intron probably benign
R8768:Kctd2 UTSW 11 115420453 missense probably damaging 1.00
Z1088:Kctd2 UTSW 11 115421987 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 On2015-04-30