Incidental Mutation 'R5537:Kctd12'
ID 434894
Institutional Source Beutler Lab
Gene Symbol Kctd12
Ensembl Gene ENSMUSG00000098557
Gene Name potassium channel tetramerisation domain containing 12
Synonyms Pfetin, Pfet1
MMRRC Submission 043095-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R5537 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 103214017-103220073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103219713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 55 (V55A)
Ref Sequence ENSEMBL: ENSMUSP00000139261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000184744]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183756
Predicted Effect probably benign
Transcript: ENSMUST00000184744
AA Change: V55A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139261
Gene: ENSMUSG00000098557
AA Change: V55A

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
BTB 34 137 1.91e-3 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased fear learning of a discrete auditory-conditioned stimulus, increased activity during the inactive (light) phase and increased intrinsic excitability of pyramidal neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 9,005,485 (GRCm39) I1123F probably damaging Het
Acsl3 C T 1: 78,684,073 (GRCm39) R702C probably damaging Het
Ank1 A G 8: 23,604,892 (GRCm39) E1031G probably damaging Het
Ankle2 T C 5: 110,397,361 (GRCm39) S536P probably damaging Het
Arfgef2 G T 2: 166,698,513 (GRCm39) probably null Het
Bahd1 G T 2: 118,746,461 (GRCm39) D27Y probably damaging Het
Brinp2 C T 1: 158,082,583 (GRCm39) V246I probably damaging Het
Ccdc187 C A 2: 26,166,237 (GRCm39) A731S probably benign Het
Cdc37l1 T A 19: 28,972,518 (GRCm39) N70K probably damaging Het
Cdk5r1 A G 11: 80,368,825 (GRCm39) Y164C probably damaging Het
Clrn3 A T 7: 135,115,791 (GRCm39) H186Q probably benign Het
Col12a1 G A 9: 79,606,872 (GRCm39) T517I probably damaging Het
Crhr1 T A 11: 104,054,682 (GRCm39) N98K possibly damaging Het
Dst C T 1: 34,228,959 (GRCm39) S2362L probably benign Het
Eapp G A 12: 54,738,844 (GRCm39) T98I probably benign Het
Iqsec3 T C 6: 121,389,603 (GRCm39) probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lgr5 T C 10: 115,292,594 (GRCm39) D432G probably benign Het
Mrgprx1 T A 7: 47,670,898 (GRCm39) H283L probably benign Het
Nlrp4e T C 7: 23,019,914 (GRCm39) F134L probably benign Het
Or1e34 T C 11: 73,778,523 (GRCm39) K225R probably benign Het
Or4f14b A T 2: 111,775,393 (GRCm39) M136K probably damaging Het
Or5m5 T A 2: 85,814,570 (GRCm39) Y129N possibly damaging Het
Or8b43 T A 9: 38,360,538 (GRCm39) Y123* probably null Het
Pfkp C A 13: 6,669,278 (GRCm39) W235L probably damaging Het
Prom1 C T 5: 44,158,118 (GRCm39) probably null Het
Psma5-ps A G 10: 85,149,913 (GRCm39) noncoding transcript Het
Rab14 A T 2: 35,082,649 (GRCm39) F12L possibly damaging Het
Rnf40 T A 7: 127,195,261 (GRCm39) I429N probably benign Het
S100pbp G A 4: 129,075,981 (GRCm39) P115S probably benign Het
Scarf1 G A 11: 75,416,357 (GRCm39) A600T probably damaging Het
Slc6a5 T C 7: 49,609,059 (GRCm39) F755L probably benign Het
Slc7a2 A T 8: 41,367,023 (GRCm39) I510F probably benign Het
Spag16 T C 1: 69,866,175 (GRCm39) S5P probably benign Het
Tex15 A G 8: 34,061,641 (GRCm39) Y631C probably damaging Het
Tmem182 A T 1: 40,894,069 (GRCm39) I195F probably benign Het
Tox A G 4: 6,697,510 (GRCm39) L431P probably damaging Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Tsg101 T C 7: 46,540,876 (GRCm39) K294E probably benign Het
Tubb2a C A 13: 34,259,434 (GRCm39) V119L probably benign Het
Vps37d C T 5: 135,103,256 (GRCm39) E129K possibly damaging Het
Zfp974 TAATCTGTCTCCAAATCTG TAATCTG 7: 27,611,671 (GRCm39) probably benign Het
Zpld1 A G 16: 55,054,003 (GRCm39) V263A possibly damaging Het
Other mutations in Kctd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2413:Kctd12 UTSW 14 103,219,603 (GRCm39) missense probably damaging 0.98
R3035:Kctd12 UTSW 14 103,218,942 (GRCm39) missense possibly damaging 0.93
R5057:Kctd12 UTSW 14 103,219,045 (GRCm39) missense possibly damaging 0.92
R6180:Kctd12 UTSW 14 103,219,027 (GRCm39) missense probably damaging 1.00
R6659:Kctd12 UTSW 14 103,219,622 (GRCm39) missense probably damaging 1.00
R6850:Kctd12 UTSW 14 103,219,414 (GRCm39) missense probably benign 0.02
R7188:Kctd12 UTSW 14 103,219,230 (GRCm39) missense probably benign 0.18
R8465:Kctd12 UTSW 14 103,218,901 (GRCm39) missense probably damaging 1.00
R9333:Kctd12 UTSW 14 103,219,054 (GRCm39) missense probably damaging 1.00
Z1176:Kctd12 UTSW 14 103,219,354 (GRCm39) missense not run
Z1177:Kctd12 UTSW 14 103,219,354 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- AGAGAGCCCTCCTTGTGCAC -3'
(R):5'- TCCCCGATAAGAGCCGCTG -3'

Sequencing Primer
(F):5'- TCCGGCAGCTCGAAGTACTC -3'
(R):5'- CGGGCCACCTCTTTTTGG -3'
Posted On 2016-10-24