Incidental Mutation 'R4758:Kcnt2'
ID 358283
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 # R4758 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 140173896-140539805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140446635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 677 (Y677H)
Ref Sequence ENSEMBL: ENSMUSP00000112887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119786] [ENSMUST00000120709] [ENSMUST00000120796]
AlphaFold D3Z649
Predicted Effect probably damaging
Transcript: ENSMUST00000119786
AA Change: Y627H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113535
Gene: ENSMUSG00000052726
AA Change: Y627H

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 probably damaging
Transcript: ENSMUST00000120709
AA Change: Y677H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112887
Gene: ENSMUSG00000052726
AA Change: Y677H

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: Y677H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113333
Gene: ENSMUSG00000052726
AA Change: Y677H

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 unknown
Transcript: ENSMUST00000193606
AA Change: Y37H
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T A 3: 36,127,754 (GRCm39) Y119N probably damaging Het
Actn2 T A 13: 12,303,472 (GRCm39) K443* probably null Het
Adgrb2 A G 4: 129,903,143 (GRCm39) N581S probably damaging Het
Afg2a T A 3: 37,487,385 (GRCm39) S416T probably benign Het
Alb A T 5: 90,616,452 (GRCm39) H319L probably benign Het
Aox1 A G 1: 58,371,741 (GRCm39) I802V probably benign Het
Arhgap45 G A 10: 79,866,127 (GRCm39) G995E probably benign Het
Capn12 A C 7: 28,592,148 (GRCm39) T689P possibly damaging Het
Cars1 T C 7: 143,125,304 (GRCm39) S312G probably benign Het
Cast T A 13: 74,887,999 (GRCm39) D216V possibly damaging Het
Ccdc13 C T 9: 121,662,800 (GRCm39) E72K possibly damaging Het
Cd300lg G T 11: 101,944,417 (GRCm39) probably null Het
Cep41 A G 6: 30,671,368 (GRCm39) probably benign Het
Chrna3 A G 9: 54,929,560 (GRCm39) Y93H probably damaging Het
Cic A G 7: 24,991,636 (GRCm39) R1309G possibly damaging Het
Clcnkb A G 4: 141,135,160 (GRCm39) V526A probably benign Het
Clec4a1 G T 6: 122,910,825 (GRCm39) V227F probably damaging Het
Cpa5 C A 6: 30,615,159 (GRCm39) H99N possibly damaging Het
Crem C A 18: 3,327,527 (GRCm39) C4F probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Decr2 C A 17: 26,307,914 (GRCm39) E46D probably damaging Het
Dlg1 G A 16: 31,610,570 (GRCm39) V284I possibly damaging Het
Dnah3 T C 7: 119,678,629 (GRCm39) E360G probably benign Het
Dnajc1 A T 2: 18,313,757 (GRCm39) Y121* probably null Het
Dnajc13 A G 9: 104,049,773 (GRCm39) F1783L probably damaging Het
Eps8l2 T A 7: 140,940,286 (GRCm39) D505E probably damaging Het
Eral1 G A 11: 77,966,425 (GRCm39) T251I probably benign Het
Eya3 T C 4: 132,422,196 (GRCm39) probably null Het
Fam120a G A 13: 49,034,333 (GRCm39) T1093I probably benign Het
Fbn2 C T 18: 58,159,458 (GRCm39) A2424T probably benign Het
Git2 G A 5: 114,868,412 (GRCm39) T256M probably damaging Het
Gm9805 A T 17: 22,689,871 (GRCm38) Y34F probably benign Het
Itgb7 T G 15: 102,124,642 (GRCm39) T792P probably benign Het
Jakmip1 T A 5: 37,285,966 (GRCm39) I665N probably damaging Het
Klhdc4 G A 8: 122,524,783 (GRCm39) P382S probably benign Het
Knl1 TCC TC 2: 118,902,213 (GRCm39) probably null Het
Lamb3 T A 1: 193,022,269 (GRCm39) M1039K possibly damaging Het
Lipm A T 19: 34,078,570 (GRCm39) M1L possibly damaging Het
Lrrc37 A G 11: 103,505,290 (GRCm39) V2226A possibly damaging Het
Magi3 T A 3: 103,922,637 (GRCm39) D1360V probably benign Het
Mier2 C A 10: 79,386,182 (GRCm39) C23F probably damaging Het
Myo1h C T 5: 114,487,643 (GRCm39) R616C probably damaging Het
Nars2 A G 7: 96,622,735 (GRCm39) D187G probably damaging Het
Nbea T C 3: 55,912,824 (GRCm39) M988V probably benign Het
Nlrc5 C A 8: 95,238,956 (GRCm39) Q1465K possibly damaging Het
Nlrp4e T C 7: 23,020,043 (GRCm39) F177L probably benign Het
Oas1a A G 5: 121,045,401 (GRCm39) F47L probably damaging Het
Oas1f A G 5: 120,985,545 (GRCm39) E30G probably damaging Het
Obscn A T 11: 58,894,189 (GRCm39) M6689K unknown Het
Obscn A T 11: 59,026,743 (GRCm39) D153E probably damaging Het
Or52s6 A C 7: 103,092,076 (GRCm39) C85G probably damaging Het
Osmr A T 15: 6,882,036 (GRCm39) I36K probably benign Het
Pcf11 A T 7: 92,310,383 (GRCm39) F535Y probably damaging Het
Pde2a C T 7: 101,160,706 (GRCm39) R886C probably damaging Het
Pik3ca T A 3: 32,492,127 (GRCm39) C242S probably benign Het
Pikfyve T A 1: 65,311,674 (GRCm39) D1925E possibly damaging Het
Plekhm2 A T 4: 141,369,316 (GRCm39) Y123N possibly damaging Het
Pomt2 A T 12: 87,169,652 (GRCm39) V406D probably damaging Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Prdm10 A T 9: 31,273,708 (GRCm39) T985S probably benign Het
Proc T A 18: 32,256,863 (GRCm39) Y268F probably damaging Het
Prrc1 C T 18: 57,517,320 (GRCm39) T365M probably damaging Het
Rasa1 A T 13: 85,382,567 (GRCm39) D446E probably benign Het
Ribc2 T A 15: 85,025,867 (GRCm39) L281Q probably damaging Het
Runx1t1 A G 4: 13,865,907 (GRCm39) D385G probably damaging Het
Sdk2 A G 11: 113,717,880 (GRCm39) S1495P possibly damaging Het
Slc15a3 G T 19: 10,831,726 (GRCm39) probably null Het
Slc43a3 A G 2: 84,774,869 (GRCm39) N149S probably damaging Het
Specc1l A G 10: 75,082,182 (GRCm39) Q543R probably damaging Het
Spef1 T C 2: 131,014,661 (GRCm39) probably null Het
Spns1 A T 7: 125,969,966 (GRCm39) F478Y probably damaging Het
Srebf2 T C 15: 82,080,370 (GRCm39) V821A probably benign Het
Stac3 A G 10: 127,339,214 (GRCm39) M108V possibly damaging Het
Stradb A G 1: 59,027,730 (GRCm39) T87A probably benign Het
Stxbp5l A T 16: 36,954,592 (GRCm39) M906K probably benign Het
Tex14 T C 11: 87,405,311 (GRCm39) V741A probably benign Het
Thoc2l A C 5: 104,668,265 (GRCm39) E929A possibly damaging Het
Tpo C A 12: 30,125,870 (GRCm39) G830C probably damaging Het
Unc79 T A 12: 103,128,080 (GRCm39) C2308* probably null Het
Vmn1r205 T C 13: 22,777,016 (GRCm39) T29A possibly damaging Het
Vmn1r69 G A 7: 10,314,473 (GRCm39) T7I probably benign Het
Vmn2r27 T G 6: 124,208,596 (GRCm39) T50P possibly damaging Het
Wdr83 A G 8: 85,801,867 (GRCm39) Y302H probably benign Het
Xirp2 A T 2: 67,346,879 (GRCm39) E3040V probably damaging Het
Zfp629 C A 7: 127,209,758 (GRCm39) G684W probably 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
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
R6248:Kcnt2 UTSW 1 140,437,216 (GRCm39) missense probably damaging 1.00
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'- ATGCATGCAGAACTGAAAGCTC -3'
(R):5'- AGAGTCTTGTGCCTGTCGTC -3'

Sequencing Primer
(F):5'- GCAGGTCATAATACATTGCAATCTG -3'
(R):5'- CCTAACTGACTGGTTAACATAACTGG -3'
Posted On 2015-11-11