Incidental Mutation 'R6248:Kcnt2'
ID 505567
Institutional Source Beutler Lab
Gene Symbol Kcnt2
Ensembl Gene ENSMUSG00000052726
Gene Name potassium channel, subfamily T, member 2
Synonyms E330038N15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6248 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 140173896-140539805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140437216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 500 (C500S)
Ref Sequence ENSEMBL: ENSMUSP00000113535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119786] [ENSMUST00000120709] [ENSMUST00000120796]
AlphaFold D3Z649
Predicted Effect probably damaging
Transcript: ENSMUST00000119786
AA Change: C500S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113535
Gene: ENSMUSG00000052726
AA Change: C500S

DomainStartEndE-ValueType
transmembrane domain 64 83 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 138 160 N/A INTRINSIC
Pfam:Ion_trans_2 199 282 2.6e-15 PFAM
Pfam:BK_channel_a 422 476 2.3e-16 PFAM
low complexity region 598 613 N/A INTRINSIC
low complexity region 620 632 N/A INTRINSIC
low complexity region 699 714 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000120709
AA Change: C550S

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112887
Gene: ENSMUSG00000052726
AA Change: C550S

DomainStartEndE-ValueType
transmembrane domain 64 83 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 138 160 N/A INTRINSIC
Pfam:Ion_trans_2 199 282 2.7e-15 PFAM
Pfam:BK_channel_a 422 527 1.5e-39 PFAM
low complexity region 648 663 N/A INTRINSIC
low complexity region 670 682 N/A INTRINSIC
low complexity region 749 764 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120796
AA Change: C550S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113333
Gene: ENSMUSG00000052726
AA Change: C550S

DomainStartEndE-ValueType
transmembrane domain 64 83 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 138 160 N/A INTRINSIC
Pfam:Ion_trans_2 199 282 2.8e-15 PFAM
Pfam:BK_channel_a 422 527 1.5e-39 PFAM
low complexity region 648 663 N/A INTRINSIC
low complexity region 670 682 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145077
SMART Domains Protein: ENSMUSP00000123677
Gene: ENSMUSG00000052726

DomainStartEndE-ValueType
Pfam:BK_channel_a 1 88 1.2e-23 PFAM
low complexity region 209 224 N/A INTRINSIC
low complexity region 231 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193606
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 100% (92/92)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele are viable with normal pain and itch responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 159,902,978 (GRCm39) S83P possibly damaging Het
Actr10 A T 12: 70,999,733 (GRCm39) E176D probably benign Het
Adcy3 G A 12: 4,258,662 (GRCm39) probably null Het
AI429214 T A 8: 37,461,278 (GRCm39) I142N probably damaging Het
Alox12 A G 11: 70,143,936 (GRCm39) L148S probably damaging Het
Ank3 A G 10: 69,809,680 (GRCm39) I1147V probably benign Het
Apoc2 C T 7: 19,407,493 (GRCm39) V12I probably benign Het
Arap3 T C 18: 38,124,407 (GRCm39) S311G probably benign Het
Arih2 G T 9: 108,488,841 (GRCm39) H292Q probably damaging Het
Cdc14a A T 3: 116,101,843 (GRCm39) D312E probably benign Het
Cdh12 T G 15: 21,237,800 (GRCm39) W12G possibly damaging Het
Cisd2 A T 3: 135,114,616 (GRCm39) N118K probably damaging Het
Cntnap5b A G 1: 99,999,827 (GRCm39) Q195R probably benign Het
Cyp2r1 A G 7: 114,161,966 (GRCm39) probably null Het
Cyp4f37 A G 17: 32,848,864 (GRCm39) D244G possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dido1 T A 2: 180,302,048 (GRCm39) H1952L probably damaging Het
Dnah10 T A 5: 124,871,283 (GRCm39) probably null Het
Dnal4 T A 15: 79,646,714 (GRCm39) M56L probably damaging Het
Emilin2 A G 17: 71,581,112 (GRCm39) V538A probably benign Het
Eps8l2 A G 7: 140,922,015 (GRCm39) D31G probably damaging Het
Erp44 A T 4: 48,219,479 (GRCm39) L112* probably null Het
Etl4 C T 2: 20,813,900 (GRCm39) T1907I possibly damaging Het
Exoc3 A G 13: 74,330,400 (GRCm39) F510L probably benign Het
Fam114a2 G T 11: 57,383,942 (GRCm39) T324K possibly damaging Het
Fer1l4 G A 2: 155,888,091 (GRCm39) R465C probably damaging Het
Frmd4b A C 6: 97,436,173 (GRCm39) S2R probably benign Het
Fscn1 A T 5: 142,946,778 (GRCm39) D192V possibly damaging Het
Gm3486 T A 14: 41,206,472 (GRCm39) *200C probably null Het
Gusb A T 5: 130,029,366 (GRCm39) H138Q probably benign Het
Hdac9 A T 12: 34,578,293 (GRCm39) M4K possibly damaging Het
Hhipl1 G T 12: 108,284,964 (GRCm39) R439L probably benign Het
Hoxd9 A G 2: 74,528,980 (GRCm39) E194G probably benign Het
Itgb1 A G 8: 129,448,902 (GRCm39) S503G possibly damaging Het
Kdm7a G A 6: 39,123,983 (GRCm39) S727L possibly damaging Het
Klhdc4 A G 8: 122,540,507 (GRCm39) F92L probably damaging Het
Klrb1a A G 6: 128,596,137 (GRCm39) V62A probably damaging Het
Krit1 A G 5: 3,863,032 (GRCm39) probably null Het
Krt40 A G 11: 99,432,566 (GRCm39) I150T possibly damaging Het
Larp4b A G 13: 9,208,738 (GRCm39) T464A probably benign Het
Lrrc52 T G 1: 167,293,964 (GRCm39) D107A probably damaging Het
Mapkap1 G T 2: 34,408,692 (GRCm39) V35F probably damaging Het
Mccc1 A G 3: 36,044,313 (GRCm39) V171A probably damaging Het
Metap1d A T 2: 71,346,104 (GRCm39) R222* probably null Het
Mrgpre G A 7: 143,334,603 (GRCm39) A300V probably benign Het
Mterf1b C A 5: 4,246,606 (GRCm39) N82K probably benign Het
Myh9 C T 15: 77,669,422 (GRCm39) W533* probably null Het
Myom2 A G 8: 15,148,472 (GRCm39) probably null Het
Ncor1 G A 11: 62,257,808 (GRCm39) P329S probably damaging Het
Nr2f1 T C 13: 78,344,611 (GRCm39) probably benign Het
Or10x1 T G 1: 174,197,236 (GRCm39) V251G probably benign Het
Or11a4 T A 17: 37,536,451 (GRCm39) L145* probably null Het
Or2a57 C T 6: 43,212,838 (GRCm39) Q99* probably null Het
Or2w6 A T 13: 21,843,244 (GRCm39) I83N possibly damaging Het
Or52p2 T C 7: 102,237,237 (GRCm39) T238A probably benign Het
Or6c210 A G 10: 129,496,532 (GRCm39) I286V probably benign Het
Or6z1 A T 7: 6,504,675 (GRCm39) C183* probably null Het
Pcdha11 T C 18: 37,138,950 (GRCm39) L193P probably benign Het
Pcdhb20 T A 18: 37,639,285 (GRCm39) F604I probably damaging Het
Pde1a T C 2: 79,708,545 (GRCm39) H291R probably damaging Het
Pfkm G A 15: 98,024,260 (GRCm39) V423M probably damaging Het
Pira1 C A 7: 3,739,337 (GRCm39) E510D probably benign Het
Pkd2l1 G T 19: 44,146,108 (GRCm39) Q149K probably benign Het
Pkhd1l1 T A 15: 44,392,955 (GRCm39) N1763K probably benign Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Prpf39 A C 12: 65,089,528 (GRCm39) N89H probably damaging Het
Rad54l2 A G 9: 106,587,537 (GRCm39) F743L probably damaging Het
Raver2 A G 4: 100,991,320 (GRCm39) probably null Het
Ric8b T C 10: 84,783,709 (GRCm39) L189P probably damaging Het
Sccpdh T C 1: 179,495,957 (GRCm39) F13L probably benign Het
Scd2 T C 19: 44,291,448 (GRCm39) F296L probably damaging Het
Scg2 G T 1: 79,414,023 (GRCm39) D233E probably benign Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Skint5 A T 4: 113,636,286 (GRCm39) V644E unknown Het
Slc44a5 G T 3: 153,969,678 (GRCm39) V612F possibly damaging Het
Snd1 C T 6: 28,520,234 (GRCm39) R107* probably null Het
Sun5 G T 2: 153,702,589 (GRCm39) T189K probably damaging Het
Tap1 A T 17: 34,412,151 (GRCm39) E452V probably damaging Het
Tcam1 A G 11: 106,173,652 (GRCm39) N32S probably benign Het
Tep1 T C 14: 51,067,715 (GRCm39) E2167G probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Tmem175 T C 5: 108,793,821 (GRCm39) V317A probably damaging Het
Tsga13 A G 6: 30,874,139 (GRCm39) V231A probably benign Het
Tspan12 A G 6: 21,799,970 (GRCm39) S126P probably damaging Het
Uvrag G T 7: 98,637,398 (GRCm39) D143E probably damaging Het
Vmn1r230 T A 17: 21,067,036 (GRCm39) M75K possibly damaging Het
Vmn2r120 A T 17: 57,852,287 (GRCm39) F10I probably benign Het
Vmn2r57 T C 7: 41,049,284 (GRCm39) T822A probably benign Het
Vmn2r67 T C 7: 84,799,768 (GRCm39) Y490C probably damaging Het
Zc3h7b T A 15: 81,667,386 (GRCm39) W644R probably damaging Het
Zeb1 A G 18: 5,766,962 (GRCm39) D491G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp831 A T 2: 174,486,308 (GRCm39) T328S possibly damaging Het
Other mutations in Kcnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Kcnt2 APN 1 140,450,836 (GRCm39) missense probably damaging 1.00
IGL00673:Kcnt2 APN 1 140,523,789 (GRCm39) missense possibly damaging 0.60
IGL00806:Kcnt2 APN 1 140,450,949 (GRCm39) missense probably damaging 1.00
IGL01135:Kcnt2 APN 1 140,282,293 (GRCm39) critical splice donor site probably null 0.00
IGL01412:Kcnt2 APN 1 140,498,155 (GRCm39) missense probably benign 0.02
IGL01777:Kcnt2 APN 1 140,523,736 (GRCm39) missense probably benign 0.20
IGL01780:Kcnt2 APN 1 140,279,007 (GRCm39) missense probably benign 0.09
IGL02134:Kcnt2 APN 1 140,304,121 (GRCm39) missense probably benign
IGL02350:Kcnt2 APN 1 140,279,007 (GRCm39) missense probably benign 0.09
IGL02357:Kcnt2 APN 1 140,279,007 (GRCm39) missense probably benign 0.09
IGL02481:Kcnt2 APN 1 140,282,299 (GRCm39) splice site probably benign
IGL02483:Kcnt2 APN 1 140,282,299 (GRCm39) splice site probably benign
IGL02866:Kcnt2 APN 1 140,352,986 (GRCm39) missense probably damaging 1.00
IGL02891:Kcnt2 APN 1 140,502,544 (GRCm39) missense probably damaging 1.00
IGL03007:Kcnt2 APN 1 140,282,245 (GRCm39) missense possibly damaging 0.50
IGL03024:Kcnt2 APN 1 140,498,193 (GRCm39) missense probably benign 0.00
IGL03231:Kcnt2 APN 1 140,461,740 (GRCm39) intron probably benign
BB002:Kcnt2 UTSW 1 140,282,247 (GRCm39) nonsense probably null
BB012:Kcnt2 UTSW 1 140,282,247 (GRCm39) nonsense probably null
R0230:Kcnt2 UTSW 1 140,174,083 (GRCm39) missense probably benign 0.00
R0367:Kcnt2 UTSW 1 140,278,963 (GRCm39) missense probably damaging 1.00
R0486:Kcnt2 UTSW 1 140,437,218 (GRCm39) nonsense probably null
R0543:Kcnt2 UTSW 1 140,537,352 (GRCm39) missense probably damaging 1.00
R0849:Kcnt2 UTSW 1 140,435,500 (GRCm39) missense probably damaging 1.00
R1123:Kcnt2 UTSW 1 140,501,346 (GRCm39) missense probably damaging 1.00
R1156:Kcnt2 UTSW 1 140,356,593 (GRCm39) missense probably damaging 1.00
R1425:Kcnt2 UTSW 1 140,310,766 (GRCm39) missense probably damaging 1.00
R1530:Kcnt2 UTSW 1 140,411,970 (GRCm39) nonsense probably null
R1546:Kcnt2 UTSW 1 140,359,116 (GRCm39) missense probably benign 0.01
R1728:Kcnt2 UTSW 1 140,282,285 (GRCm39) missense probably benign 0.00
R1729:Kcnt2 UTSW 1 140,282,285 (GRCm39) missense probably benign 0.00
R1730:Kcnt2 UTSW 1 140,282,285 (GRCm39) missense probably benign 0.00
R1739:Kcnt2 UTSW 1 140,282,285 (GRCm39) missense probably benign 0.00
R1762:Kcnt2 UTSW 1 140,282,285 (GRCm39) missense probably benign 0.00
R1783:Kcnt2 UTSW 1 140,282,285 (GRCm39) missense probably benign 0.00
R1784:Kcnt2 UTSW 1 140,282,285 (GRCm39) missense probably benign 0.00
R1785:Kcnt2 UTSW 1 140,282,285 (GRCm39) missense probably benign 0.00
R1862:Kcnt2 UTSW 1 140,353,068 (GRCm39) missense probably damaging 1.00
R1887:Kcnt2 UTSW 1 140,511,985 (GRCm39) missense probably damaging 0.99
R1889:Kcnt2 UTSW 1 140,512,031 (GRCm39) missense probably damaging 1.00
R1894:Kcnt2 UTSW 1 140,353,079 (GRCm39) missense probably damaging 1.00
R2005:Kcnt2 UTSW 1 140,480,756 (GRCm39) missense probably damaging 0.98
R2044:Kcnt2 UTSW 1 140,302,892 (GRCm39) missense probably benign 0.14
R2115:Kcnt2 UTSW 1 140,480,701 (GRCm39) missense probably damaging 1.00
R2135:Kcnt2 UTSW 1 140,356,551 (GRCm39) missense probably damaging 1.00
R2201:Kcnt2 UTSW 1 140,437,179 (GRCm39) missense probably damaging 1.00
R2212:Kcnt2 UTSW 1 140,458,538 (GRCm39) missense probably damaging 1.00
R2267:Kcnt2 UTSW 1 140,501,421 (GRCm39) splice site probably null
R2442:Kcnt2 UTSW 1 140,304,091 (GRCm39) missense possibly damaging 0.59
R3121:Kcnt2 UTSW 1 140,356,622 (GRCm39) missense probably damaging 0.97
R3176:Kcnt2 UTSW 1 140,537,377 (GRCm39) missense probably benign 0.16
R3276:Kcnt2 UTSW 1 140,537,377 (GRCm39) missense probably benign 0.16
R3704:Kcnt2 UTSW 1 140,461,706 (GRCm39) missense probably damaging 1.00
R3944:Kcnt2 UTSW 1 140,512,025 (GRCm39) missense probably damaging 1.00
R4164:Kcnt2 UTSW 1 140,537,368 (GRCm39) missense probably damaging 0.97
R4201:Kcnt2 UTSW 1 140,353,070 (GRCm39) missense probably damaging 0.98
R4501:Kcnt2 UTSW 1 140,480,718 (GRCm39) missense probably damaging 0.99
R4502:Kcnt2 UTSW 1 140,435,485 (GRCm39) missense probably damaging 0.99
R4632:Kcnt2 UTSW 1 140,450,886 (GRCm39) missense possibly damaging 0.90
R4758:Kcnt2 UTSW 1 140,446,635 (GRCm39) missense probably damaging 1.00
R4790:Kcnt2 UTSW 1 140,282,254 (GRCm39) missense probably damaging 0.99
R4892:Kcnt2 UTSW 1 140,440,763 (GRCm39) nonsense probably null
R4973:Kcnt2 UTSW 1 140,537,388 (GRCm39) missense probably damaging 1.00
R5154:Kcnt2 UTSW 1 140,278,994 (GRCm39) missense possibly damaging 0.94
R5296:Kcnt2 UTSW 1 140,537,353 (GRCm39) missense probably damaging 1.00
R5353:Kcnt2 UTSW 1 140,354,639 (GRCm39) missense probably damaging 1.00
R5605:Kcnt2 UTSW 1 140,502,481 (GRCm39) missense possibly damaging 0.59
R5806:Kcnt2 UTSW 1 140,437,234 (GRCm39) missense probably damaging 1.00
R5887:Kcnt2 UTSW 1 140,353,104 (GRCm39) missense probably damaging 1.00
R5917:Kcnt2 UTSW 1 140,461,666 (GRCm39) missense probably damaging 0.99
R5961:Kcnt2 UTSW 1 140,435,440 (GRCm39) missense possibly damaging 0.82
R6123:Kcnt2 UTSW 1 140,290,718 (GRCm39) missense probably damaging 1.00
R6225:Kcnt2 UTSW 1 140,354,661 (GRCm39) nonsense probably null
R6351:Kcnt2 UTSW 1 140,302,850 (GRCm39) missense probably damaging 1.00
R6380:Kcnt2 UTSW 1 140,437,322 (GRCm39) missense probably damaging 1.00
R6532:Kcnt2 UTSW 1 140,511,844 (GRCm39) missense probably damaging 0.97
R6693:Kcnt2 UTSW 1 140,278,965 (GRCm39) missense probably benign 0.00
R6817:Kcnt2 UTSW 1 140,173,931 (GRCm39) unclassified probably benign
R6856:Kcnt2 UTSW 1 140,523,742 (GRCm39) missense probably damaging 1.00
R6944:Kcnt2 UTSW 1 140,511,803 (GRCm39) missense probably benign 0.00
R6971:Kcnt2 UTSW 1 140,440,646 (GRCm39) missense probably benign 0.01
R7052:Kcnt2 UTSW 1 140,310,785 (GRCm39) missense probably damaging 0.99
R7138:Kcnt2 UTSW 1 140,523,778 (GRCm39) missense possibly damaging 0.80
R7261:Kcnt2 UTSW 1 140,282,255 (GRCm39) missense possibly damaging 0.71
R7474:Kcnt2 UTSW 1 140,498,216 (GRCm39) missense possibly damaging 0.84
R7524:Kcnt2 UTSW 1 140,511,793 (GRCm39) missense probably damaging 0.99
R7541:Kcnt2 UTSW 1 140,304,122 (GRCm39) missense probably benign 0.09
R7558:Kcnt2 UTSW 1 140,450,928 (GRCm39) missense probably damaging 0.98
R7651:Kcnt2 UTSW 1 140,498,199 (GRCm39) missense probably benign 0.40
R7730:Kcnt2 UTSW 1 140,446,686 (GRCm39) missense probably benign 0.34
R7875:Kcnt2 UTSW 1 140,501,385 (GRCm39) missense probably damaging 1.00
R7883:Kcnt2 UTSW 1 140,450,888 (GRCm39) missense probably damaging 0.99
R7925:Kcnt2 UTSW 1 140,282,247 (GRCm39) nonsense probably null
R8040:Kcnt2 UTSW 1 140,377,955 (GRCm39) missense probably damaging 1.00
R8041:Kcnt2 UTSW 1 140,537,398 (GRCm39) missense probably benign
R8171:Kcnt2 UTSW 1 140,437,203 (GRCm39) missense probably benign 0.13
R8268:Kcnt2 UTSW 1 140,450,954 (GRCm39) missense probably damaging 0.99
R8905:Kcnt2 UTSW 1 140,435,467 (GRCm39) missense possibly damaging 0.65
R8927:Kcnt2 UTSW 1 140,356,535 (GRCm39) splice site probably null
R8988:Kcnt2 UTSW 1 140,356,587 (GRCm39) missense probably benign 0.38
R9020:Kcnt2 UTSW 1 140,512,049 (GRCm39) missense probably benign 0.23
R9109:Kcnt2 UTSW 1 140,353,035 (GRCm39) missense probably damaging 1.00
R9167:Kcnt2 UTSW 1 140,506,200 (GRCm39) missense probably benign 0.11
R9232:Kcnt2 UTSW 1 140,411,931 (GRCm39) missense possibly damaging 0.56
R9297:Kcnt2 UTSW 1 140,352,933 (GRCm39) missense probably damaging 0.99
R9298:Kcnt2 UTSW 1 140,353,035 (GRCm39) missense probably damaging 1.00
R9318:Kcnt2 UTSW 1 140,352,933 (GRCm39) missense probably damaging 0.99
R9404:Kcnt2 UTSW 1 140,353,107 (GRCm39) missense probably damaging 1.00
X0062:Kcnt2 UTSW 1 140,440,729 (GRCm39) missense possibly damaging 0.50
Z1088:Kcnt2 UTSW 1 140,511,896 (GRCm39) nonsense probably null
Z1088:Kcnt2 UTSW 1 140,501,384 (GRCm39) missense probably damaging 1.00
Z1176:Kcnt2 UTSW 1 140,304,099 (GRCm39) missense probably damaging 1.00
Z1177:Kcnt2 UTSW 1 140,537,386 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- GGCTCCCTAGTTCTATTATTTGATG -3'
(R):5'- AGGCAAGCGCTTATAATCAGAATC -3'

Sequencing Primer
(F):5'- TTTTGTTCTGTTTAATTAGAGTTGGC -3'
(R):5'- TACTGACCCATGCTGGCAATG -3'
Posted On 2018-02-28