Incidental Mutation 'R4393:Kctd2'
ID 326486
Institutional Source Beutler Lab
Gene Symbol Kctd2
Ensembl Gene ENSMUSG00000016940
Gene Name potassium channel tetramerisation domain containing 2
Synonyms 2310012I15Rik
MMRRC Submission 041128-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.533) question?
Stock # R4393 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 115310954-115322100 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 115320326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000103035] [ENSMUST00000106533]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000103035
SMART Domains Protein: ENSMUSP00000099324
Gene: ENSMUSG00000016940

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: ENSMUST00000106533
AA Change: L286P
SMART Domains Protein: ENSMUSP00000102143
Gene: ENSMUSG00000016940
AA Change: L286P

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 benign
Transcript: ENSMUST00000123345
SMART Domains Protein: ENSMUSP00000115862
Gene: ENSMUSG00000016940

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 95% (71/75)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik C A 9: 3,134,944 (GRCm39) noncoding transcript Het
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Adgrl1 T C 8: 84,665,222 (GRCm39) V1353A probably benign Het
Cep68 A T 11: 20,188,544 (GRCm39) N620K probably benign Het
Clcnkb A G 4: 141,139,547 (GRCm39) S152P probably benign Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Cyp26c1 G A 19: 37,675,105 (GRCm39) R142H probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg5 T A 14: 24,228,057 (GRCm39) probably null Het
Dnai7 T C 6: 145,140,304 (GRCm39) T166A possibly damaging Het
Ebf3 C T 7: 136,826,886 (GRCm39) R342H probably damaging Het
Ece2 T C 16: 20,451,598 (GRCm39) V380A probably damaging Het
Epb41l4a C T 18: 34,024,473 (GRCm39) probably null Het
Erbb3 G T 10: 128,408,639 (GRCm39) Q815K probably damaging Het
Ercc3 T A 18: 32,398,674 (GRCm39) M651K probably benign Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Foxp2 A C 6: 15,377,689 (GRCm39) probably benign Het
Gdf10 T C 14: 33,654,695 (GRCm39) Y401H probably damaging Het
Gm21738 G C 14: 19,417,178 (GRCm38) L117V probably benign Het
Gm6408 A T 5: 146,419,147 (GRCm39) D54V probably damaging Het
H2-T5 C A 17: 36,472,861 (GRCm39) probably benign Het
Hcn4 A G 9: 58,751,583 (GRCm39) E403G unknown Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hjurp A G 1: 88,194,283 (GRCm39) probably benign Het
Hyou1 T A 9: 44,293,169 (GRCm39) V125E probably damaging Het
Il11ra1 T C 4: 41,768,577 (GRCm39) probably null Het
Immt T A 6: 71,849,784 (GRCm39) S435T probably benign Het
Kcnip2 A G 19: 45,800,669 (GRCm39) L19P probably benign Het
Mdga1 T C 17: 30,069,491 (GRCm39) D185G probably damaging Het
Mdn1 C T 4: 32,754,482 (GRCm39) T4666M possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Msl2 A G 9: 100,978,676 (GRCm39) E350G probably damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo3a A T 2: 22,467,866 (GRCm39) K373N probably damaging Het
Nr5a1 T C 2: 38,584,231 (GRCm39) E396G probably damaging Het
Ogdh G A 11: 6,266,772 (GRCm39) G141D probably damaging Het
Or10q1b T C 19: 13,682,554 (GRCm39) I121T possibly damaging Het
Or2h2c T C 17: 37,424,971 (GRCm39) probably benign Het
Or5w1b A T 2: 87,476,256 (GRCm39) C70* probably null Het
Orc2 C A 1: 58,506,809 (GRCm39) probably null Het
P4ha3 C T 7: 99,954,814 (GRCm39) P291S probably benign Het
Pign T C 1: 105,449,751 (GRCm39) K925R probably benign Het
Plekhm1 A G 11: 103,267,791 (GRCm39) S727P possibly damaging Het
Prr36 G T 8: 4,264,901 (GRCm39) probably benign Het
Prrt3 A G 6: 113,471,907 (GRCm39) L755P probably benign Het
Secisbp2 A G 13: 51,808,502 (GRCm39) H89R probably damaging Het
Sgms2 A T 3: 131,135,466 (GRCm39) probably null Het
Slc35d3 T C 10: 19,725,352 (GRCm39) probably null Het
Slu7 T A 11: 43,330,096 (GRCm39) N174K possibly damaging Het
Teddm1a G T 1: 153,768,192 (GRCm39) D219Y probably damaging Het
Tgtp1 C A 11: 48,878,450 (GRCm39) G85V probably damaging Het
Tmem51 T C 4: 141,759,242 (GRCm39) T169A probably benign Het
Tmem69 C T 4: 116,411,964 (GRCm39) probably null Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Vwa3b T C 1: 37,084,259 (GRCm39) V144A probably damaging Het
Zdhhc21 A G 4: 82,765,891 (GRCm39) C15R possibly damaging Het
Zfp142 T C 1: 74,611,219 (GRCm39) T756A probably benign Het
Zfp606 C T 7: 12,226,776 (GRCm39) S241F probably damaging Het
Zfp804a A T 2: 82,087,265 (GRCm39) T365S probably benign 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
R3888:Kctd2 UTSW 11 115,318,345 (GRCm39) missense probably damaging 1.00
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'- AATTCCTCTGTGTTGTCTCCAGAG -3'
(R):5'- TGGCATAAGTGTGCACATGTG -3'

Sequencing Primer
(F):5'- AGGTAGGACACTGCTTCT -3'
(R):5'- AGAGTGGAAACGGCTCCTCTTG -3'
Posted On 2015-07-06