Incidental Mutation 'R6032:Kcns2'
ID 486347
Institutional Source Beutler Lab
Gene Symbol Kcns2
Ensembl Gene ENSMUSG00000050963
Gene Name K+ voltage-gated channel, subfamily S, 2
Synonyms Kv9.2, E130006J24Rik
MMRRC Submission 044204-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6032 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 34837501-34843553 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34839080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 148 (F148L)
Ref Sequence ENSEMBL: ENSMUSP00000153984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072868] [ENSMUST00000228725]
AlphaFold O35174
Predicted Effect probably benign
Transcript: ENSMUST00000072868
AA Change: F148L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000072645
Gene: ENSMUSG00000050963
AA Change: F148L

DomainStartEndE-ValueType
BTB 17 126 3.35e-8 SMART
Pfam:Ion_trans 186 421 1.2e-44 PFAM
Pfam:Ion_trans_2 330 415 4e-15 PFAM
low complexity region 463 476 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000228725
AA Change: F148L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Meta Mutation Damage Score 0.0694 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 98% (54/55)
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in no obvious phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A2ml1 T A 6: 128,526,799 (GRCm39) K1071* probably null Het
Abca13 G T 11: 9,247,752 (GRCm39) V2500F possibly damaging Het
Adamdec1 T C 14: 68,816,633 (GRCm39) E85G probably damaging Het
Aldh8a1 T C 10: 21,264,970 (GRCm39) V199A probably benign Het
Aoc2 G A 11: 101,216,627 (GRCm39) V237M probably damaging Het
Aplp2 C T 9: 31,062,240 (GRCm39) R672H probably damaging Het
Apob A G 12: 8,045,513 (GRCm39) N886S probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atp6v1a T C 16: 43,927,303 (GRCm39) Y328C probably damaging Het
Bag4 T C 8: 26,267,521 (GRCm39) Y103C probably damaging Het
Crem C T 18: 3,267,673 (GRCm39) R190Q probably damaging Het
Crybg1 A G 10: 43,832,756 (GRCm39) S2000P probably damaging Het
Cubn T A 2: 13,329,995 (GRCm39) T2629S probably benign Het
Cyp3a44 G T 5: 145,714,756 (GRCm39) S465Y probably damaging Het
Daam2 A C 17: 49,793,525 (GRCm39) F331V probably damaging Het
Dnajc3 T C 14: 119,205,443 (GRCm39) S146P possibly damaging Het
Dscam A G 16: 96,451,191 (GRCm39) probably null Het
Fam184b G A 5: 45,740,238 (GRCm39) S316L probably benign Het
Fat2 G C 11: 55,144,760 (GRCm39) T4038S probably damaging Het
Fbxl19 C T 7: 127,360,437 (GRCm39) R439C probably damaging Het
Gm3454 T A 15: 75,183,448 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,617 (GRCm39) E284G probably benign Het
Grm1 A T 10: 10,595,549 (GRCm39) I693N probably damaging Het
Gsdme T A 6: 50,222,934 (GRCm39) Q127L probably damaging Het
Ifnlr1 A G 4: 135,432,937 (GRCm39) K458E probably benign Het
Lama1 A G 17: 68,057,638 (GRCm39) T571A probably benign Het
Loxhd1 G A 18: 77,469,254 (GRCm39) V108M probably damaging Het
Mef2c A T 13: 83,810,478 (GRCm39) T375S probably benign Het
Ncor1 A T 11: 62,264,147 (GRCm39) D144E possibly damaging Het
Nos3 A T 5: 24,584,809 (GRCm39) T738S probably benign Het
Nrxn2 A T 19: 6,567,162 (GRCm39) T1353S probably damaging Het
Or2b7 G T 13: 21,740,077 (GRCm39) S38R probably benign Het
Or4f4b T C 2: 111,314,195 (GRCm39) L140P probably damaging Het
Or8g17 A G 9: 38,930,261 (GRCm39) I192T probably benign Het
Pfpl A G 19: 12,406,747 (GRCm39) T333A probably damaging Het
Postn A T 3: 54,284,137 (GRCm39) I565F possibly damaging Het
Ppef2 A G 5: 92,378,383 (GRCm39) V604A probably benign Het
Pramel13 A C 4: 144,119,598 (GRCm39) I323S possibly damaging Het
Prmt1 A G 7: 44,626,526 (GRCm39) probably null Het
Rel A G 11: 23,692,684 (GRCm39) S450P probably benign Het
Rpap2 A C 5: 107,745,661 (GRCm39) D3A probably damaging Het
Shisa9 T C 16: 11,802,772 (GRCm39) F110L possibly damaging Het
Slc25a10 A T 11: 120,385,784 (GRCm39) probably null Het
Slx4 A T 16: 3,798,021 (GRCm39) F1454L probably damaging Het
Smc1b A T 15: 84,950,430 (GRCm39) V1198D possibly damaging Het
Supt5 T C 7: 28,015,600 (GRCm39) Y879C probably damaging Het
Tbx15 T C 3: 99,259,833 (GRCm39) M568T probably benign Het
Tle4 T C 19: 14,429,472 (GRCm39) H698R possibly damaging Het
Trappc9 T C 15: 72,797,379 (GRCm39) N803D probably benign Het
Trim10 A T 17: 37,182,606 (GRCm39) R157S possibly damaging Het
Wsb1 T C 11: 79,131,025 (GRCm39) probably benign Het
Zfp106 T C 2: 120,365,874 (GRCm39) S178G probably benign Het
Zftraf1 C T 15: 76,543,058 (GRCm39) R34Q probably damaging Het
Other mutations in Kcns2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02524:Kcns2 APN 15 34,838,981 (GRCm39) missense probably benign 0.25
IGL02723:Kcns2 APN 15 34,838,961 (GRCm39) missense probably damaging 1.00
R0380:Kcns2 UTSW 15 34,839,318 (GRCm39) missense possibly damaging 0.57
R0927:Kcns2 UTSW 15 34,839,242 (GRCm39) missense probably benign 0.31
R1673:Kcns2 UTSW 15 34,838,966 (GRCm39) missense probably damaging 1.00
R1754:Kcns2 UTSW 15 34,839,663 (GRCm39) missense possibly damaging 0.62
R1829:Kcns2 UTSW 15 34,838,949 (GRCm39) missense probably damaging 1.00
R1913:Kcns2 UTSW 15 34,839,855 (GRCm39) missense probably damaging 1.00
R2290:Kcns2 UTSW 15 34,838,655 (GRCm39) missense possibly damaging 0.95
R4983:Kcns2 UTSW 15 34,839,751 (GRCm39) missense probably damaging 1.00
R5024:Kcns2 UTSW 15 34,839,683 (GRCm39) missense probably benign 0.26
R5195:Kcns2 UTSW 15 34,839,677 (GRCm39) missense possibly damaging 0.90
R5641:Kcns2 UTSW 15 34,839,199 (GRCm39) missense possibly damaging 0.82
R5771:Kcns2 UTSW 15 34,839,068 (GRCm39) missense probably benign 0.06
R5788:Kcns2 UTSW 15 34,839,000 (GRCm39) missense probably benign 0.01
R5970:Kcns2 UTSW 15 34,839,930 (GRCm39) missense probably benign 0.03
R6032:Kcns2 UTSW 15 34,839,080 (GRCm39) missense probably benign 0.02
R6157:Kcns2 UTSW 15 34,839,504 (GRCm39) missense possibly damaging 0.95
R6925:Kcns2 UTSW 15 34,840,059 (GRCm39) missense unknown
R7059:Kcns2 UTSW 15 34,838,981 (GRCm39) missense probably damaging 0.97
R7378:Kcns2 UTSW 15 34,839,849 (GRCm39) nonsense probably null
R7572:Kcns2 UTSW 15 34,839,318 (GRCm39) missense possibly damaging 0.57
R7854:Kcns2 UTSW 15 34,839,917 (GRCm39) missense probably benign 0.00
R8041:Kcns2 UTSW 15 34,839,291 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTTGCATTTCTACCACACCGG -3'
(R):5'- GATTTGGAAGTCTGGCAGGC -3'

Sequencing Primer
(F):5'- GCAAGCTTCACGTCATGGCTG -3'
(R):5'- AAGTCTGGCAGGCTATTGAG -3'
Posted On 2017-08-16