Incidental Mutation 'R7883:Kcnt2'
ID 608853
Institutional Source Beutler Lab
Gene Symbol Kcnt2
Ensembl Gene ENSMUSG00000052726
Gene Name potassium channel, subfamily T, member 2
Synonyms E330038N15Rik
MMRRC Submission 045935-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R7883 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 140173896-140539805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140450888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 722 (I722M)
Ref Sequence ENSEMBL: ENSMUSP00000113333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119786] [ENSMUST00000120709] [ENSMUST00000120796]
AlphaFold D3Z649
Predicted Effect possibly damaging
Transcript: ENSMUST00000119786
AA Change: I672M

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113535
Gene: ENSMUSG00000052726
AA Change: I672M

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: I722M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112887
Gene: ENSMUSG00000052726
AA Change: I722M

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: I722M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113333
Gene: ENSMUSG00000052726
AA Change: I722M

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 probably benign
Transcript: ENSMUST00000193606
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (79/80)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110065P20Rik A T 4: 124,744,440 (GRCm39) W5R unknown Het
Abcb6 A T 1: 75,154,660 (GRCm39) S258R possibly damaging Het
Abcc10 A G 17: 46,618,027 (GRCm39) V1082A probably benign Het
Adrb2 A G 18: 62,312,447 (GRCm39) V126A probably damaging Het
Apol11a A G 15: 77,400,774 (GRCm39) E87G probably damaging Het
Arhgap45 T A 10: 79,863,423 (GRCm39) C755* probably null Het
Arl13b A T 16: 62,647,629 (GRCm39) I93K probably damaging Het
Aspm A G 1: 139,406,405 (GRCm39) K1764R possibly damaging Het
Atp8b5 A G 4: 43,342,471 (GRCm39) I381V probably damaging Het
Atxn2 A G 5: 121,940,180 (GRCm39) H985R possibly damaging Het
Bms1 G T 6: 118,365,735 (GRCm39) N1150K probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camta2 T C 11: 70,566,037 (GRCm39) D749G probably damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Cep152 G A 2: 125,454,978 (GRCm39) A274V possibly damaging Het
Chd7 A G 4: 8,826,504 (GRCm39) N956S probably damaging Het
Cpt1c A T 7: 44,613,438 (GRCm39) probably null Het
Cttn C T 7: 143,999,555 (GRCm39) V338I probably benign Het
Dab2ip G A 2: 35,610,218 (GRCm39) G811D possibly damaging Het
Dmtf1 T C 5: 9,190,397 (GRCm39) T106A probably benign Het
Dync2h1 T C 9: 7,005,566 (GRCm39) E3768G possibly damaging Het
Exoc1 T A 5: 76,709,229 (GRCm39) D612E probably damaging Het
Fat2 T C 11: 55,144,190 (GRCm39) probably null Het
Fat4 G A 3: 39,035,968 (GRCm39) E3207K probably damaging Het
Fbxw18 A G 9: 109,517,474 (GRCm39) Y410H probably damaging Het
Fgfr3 T A 5: 33,891,235 (GRCm39) S518T probably damaging Het
Fzr1 G A 10: 81,204,469 (GRCm39) T377M probably damaging Het
Gcnt3 T A 9: 69,941,453 (GRCm39) I372F probably damaging Het
Gm10577 A T 4: 100,877,719 (GRCm39) Y59N unknown Het
Gm826 A G 2: 160,169,213 (GRCm39) L32P unknown Het
Grid1 T G 14: 35,172,259 (GRCm39) probably null Het
Hid1 T A 11: 115,245,435 (GRCm39) T457S probably damaging Het
Hsd3b5 A G 3: 98,529,456 (GRCm39) V58A probably benign Het
Iqcj A G 3: 67,954,641 (GRCm39) K49E probably damaging Het
Itpk1 A G 12: 102,572,434 (GRCm39) V93A probably benign Het
Klhl36 T C 8: 120,601,217 (GRCm39) V412A possibly damaging Het
Krt18 G A 15: 101,936,885 (GRCm39) V58M possibly damaging Het
Lats2 T C 14: 57,934,657 (GRCm39) Y691C probably damaging Het
Lrp1b A T 2: 40,555,141 (GRCm39) I4095N Het
Map1a A G 2: 121,135,853 (GRCm39) E2223G probably damaging Het
Med25 A G 7: 44,541,232 (GRCm39) F94L possibly damaging Het
Mertk A G 2: 128,618,265 (GRCm39) I499V probably benign Het
Mrps12 A G 7: 28,439,568 (GRCm39) L49P probably benign Het
Nwd1 T A 8: 73,393,754 (GRCm39) V339D probably damaging Het
Obscn G A 11: 58,960,835 (GRCm39) Q3159* probably null Het
Patj G A 4: 98,499,372 (GRCm39) V1349I probably benign Het
Pcdha8 T A 18: 37,126,196 (GRCm39) V226D probably damaging Het
Pdgfd T A 9: 6,293,939 (GRCm39) probably null Het
Pdzd7 A C 19: 45,018,679 (GRCm39) I600S probably damaging Het
Pgpep1l G A 7: 67,888,897 (GRCm39) R45* probably null Het
Pik3c3 T C 18: 30,407,416 (GRCm39) S55P probably benign Het
Pkhd1l1 A T 15: 44,392,522 (GRCm39) D1619V probably damaging Het
Pkp1 A G 1: 135,812,641 (GRCm39) probably null Het
Ppan T A 9: 20,802,777 (GRCm39) I311N probably benign Het
Ppih C A 4: 119,167,987 (GRCm39) G175W probably damaging Het
Ppp1r8 G T 4: 132,562,026 (GRCm39) Q65K probably damaging Het
Psmd5 T A 2: 34,746,524 (GRCm39) K351M possibly damaging Het
Pth1r T C 9: 110,560,626 (GRCm39) K53R probably benign Het
Ptprn A T 1: 75,239,007 (GRCm39) F9L probably damaging Het
Rgl3 T C 9: 21,892,723 (GRCm39) I288V probably benign Het
Sds A G 5: 120,617,278 (GRCm39) I45V possibly damaging Het
Sfxn4 A T 19: 60,847,187 (GRCm39) probably null Het
Sis A T 3: 72,828,329 (GRCm39) C1220S possibly damaging Het
Slc22a16 T G 10: 40,479,660 (GRCm39) D577E probably benign Het
Slc25a10 T A 11: 120,385,340 (GRCm39) M43K possibly damaging Het
Smpd1 T C 7: 105,206,192 (GRCm39) I440T probably damaging Het
Spata6l A C 19: 28,906,013 (GRCm39) S297A probably benign Het
St6galnac6 A G 2: 32,504,941 (GRCm39) N151S probably benign Het
Taf4 G T 2: 179,571,088 (GRCm39) L742M probably damaging Het
Tctn1 A G 5: 122,402,375 (GRCm39) S20P possibly damaging Het
Tkfc A T 19: 10,572,394 (GRCm39) probably null Het
Tmem270 A G 5: 134,931,681 (GRCm39) V87A possibly damaging Het
Tpo T C 12: 30,153,169 (GRCm39) H395R probably damaging Het
Tufm T C 7: 126,088,114 (GRCm39) F206L possibly damaging Het
Tulp2 A G 7: 45,166,188 (GRCm39) probably null Het
Tulp3 G A 6: 128,303,807 (GRCm39) T264M probably damaging Het
Uqcrc2 A G 7: 120,244,440 (GRCm39) D194G possibly damaging Het
Vill C A 9: 118,894,589 (GRCm39) C415* probably null Het
Zfp799 A G 17: 33,039,256 (GRCm39) C337R probably damaging Het
Zhx2 A G 15: 57,685,270 (GRCm39) E213G 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
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
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'- CAAAGACAAATGCAACTGTGTTCC -3'
(R):5'- ATCTCCCAATGATTTGTGCACC -3'

Sequencing Primer
(F):5'- GCAACTGTGTTCCAATTTGTTAG -3'
(R):5'- CGGGTTATCCAATAGCAGAA -3'
Posted On 2019-12-20