Incidental Mutation 'R0543:Kcnt2'
ID 50026
Institutional Source Beutler Lab
Gene Symbol Kcnt2
Ensembl Gene ENSMUSG00000052726
Gene Name potassium channel, subfamily T, member 2
Synonyms E330038N15Rik
MMRRC Submission 038735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R0543 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 140173896-140539805 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 140537352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 1037 (P1037T)
Ref Sequence ENSEMBL: ENSMUSP00000113535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119786] [ENSMUST00000120709] [ENSMUST00000120796]
AlphaFold D3Z649
Predicted Effect probably damaging
Transcript: ENSMUST00000060201
AA Change: P1111T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054623
Gene: ENSMUSG00000052726
AA Change: P1111T

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 424 533 1.3e-31 PFAM
low complexity region 655 670 N/A INTRINSIC
low complexity region 677 689 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119786
AA Change: P1037T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113535
Gene: ENSMUSG00000052726
AA Change: P1037T

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: P1080T

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112887
Gene: ENSMUSG00000052726
AA Change: P1080T

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: P1104T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113333
Gene: ENSMUSG00000052726
AA Change: P1104T

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: ENSMUST00000193820
Meta Mutation Damage Score 0.0849 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox5 T A 6: 116,431,278 (GRCm39) probably null Het
Apol9b A G 15: 77,619,840 (GRCm39) N212S probably damaging Het
Ash1l T A 3: 88,971,085 (GRCm39) probably null Het
Bltp1 G A 3: 37,050,607 (GRCm39) S2981N probably benign Het
Ccdc180 A T 4: 45,900,041 (GRCm39) K200* probably null Het
Ccser2 A T 14: 36,662,149 (GRCm39) M345K probably benign Het
Cdcp2 A T 4: 106,954,873 (GRCm39) probably null Het
Clca3a1 T C 3: 144,454,155 (GRCm39) probably benign Het
Cntn3 G A 6: 102,246,051 (GRCm39) probably benign Het
Col28a1 T A 6: 8,075,326 (GRCm39) probably benign Het
Dock2 A G 11: 34,244,325 (GRCm39) F1035S probably damaging Het
Dsg1a A T 18: 20,473,920 (GRCm39) S998C probably damaging Het
Ecrg4 C A 1: 43,781,449 (GRCm39) N110K possibly damaging Het
Enox1 T C 14: 77,744,399 (GRCm39) probably benign Het
Fgfr3 A G 5: 33,887,054 (GRCm39) M1V probably null Het
Fuca2 T A 10: 13,378,870 (GRCm39) Y5N probably damaging Het
Git2 G T 5: 114,883,592 (GRCm39) H42Q probably damaging Het
Gm7964 G A 7: 83,405,602 (GRCm39) noncoding transcript Het
Hars2 G A 18: 36,922,477 (GRCm39) E337K probably damaging Het
Hells A G 19: 38,956,194 (GRCm39) R797G probably benign Het
Hnf1a G A 5: 115,088,803 (GRCm39) S571L probably benign Het
Hoxa5 T C 6: 52,181,320 (GRCm39) Y4C probably damaging Het
Inpp4a G A 1: 37,408,573 (GRCm39) probably benign Het
Ints6 T C 14: 62,934,060 (GRCm39) I816V probably damaging Het
Itpr1 T C 6: 108,492,709 (GRCm39) probably benign Het
Itprid2 T A 2: 79,474,850 (GRCm39) S270T possibly damaging Het
Lyg2 T A 1: 37,950,188 (GRCm39) M47L possibly damaging Het
Macf1 G T 4: 123,270,171 (GRCm39) A4648D probably damaging Het
Mcf2l T C 8: 13,046,728 (GRCm39) probably null Het
Mcm9 C T 10: 53,417,694 (GRCm39) R3H probably damaging Het
Met T A 6: 17,491,969 (GRCm39) Y244N probably damaging Het
Mettl14 A T 3: 123,168,411 (GRCm39) C210S possibly damaging Het
Mrgpra4 T C 7: 47,631,058 (GRCm39) Y181C probably benign Het
Mtch2 T C 2: 90,680,026 (GRCm39) V86A possibly damaging Het
Mttp A T 3: 137,817,457 (GRCm39) I446N possibly damaging Het
Muc4 T A 16: 32,577,120 (GRCm39) S2207T unknown Het
Muc5b A G 7: 141,405,522 (GRCm39) T944A unknown Het
Myo15a A T 11: 60,369,877 (GRCm39) H879L probably benign Het
Nherf4 A C 9: 44,160,231 (GRCm39) H324Q probably damaging Het
Nkiras2 G A 11: 100,515,018 (GRCm39) probably benign Het
Nostrin T G 2: 69,019,475 (GRCm39) *507E probably null Het
Nup205 T C 6: 35,175,904 (GRCm39) V589A probably benign Het
Or12j3 A G 7: 139,953,307 (GRCm39) I72T probably benign Het
Or5b21 G T 19: 12,839,252 (GRCm39) V38F probably benign Het
Or5w17 C A 2: 87,583,994 (GRCm39) L114F probably damaging Het
Oxct2b T A 4: 123,010,782 (GRCm39) M234K possibly damaging Het
Pcdha1 A T 18: 37,318,121 (GRCm39) I945F probably damaging Het
Pik3ca G A 3: 32,504,410 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,386,887 (GRCm39) probably null Het
Plscr1 A T 9: 92,140,099 (GRCm39) probably null Het
Prkn G A 17: 11,286,066 (GRCm39) D20N probably damaging Het
Psd T C 19: 46,307,956 (GRCm39) E684G possibly damaging Het
Rab11fip3 T C 17: 26,213,199 (GRCm39) E870G probably damaging Het
Rpl22l1 C A 3: 28,861,423 (GRCm39) Y103* probably null Het
Semp2l2b T C 10: 21,942,823 (GRCm39) S386G possibly damaging Het
Slc38a4 A T 15: 96,914,720 (GRCm39) N44K possibly damaging Het
Slco6c1 T A 1: 97,055,623 (GRCm39) I93F probably damaging Het
Strip1 G A 3: 107,534,091 (GRCm39) T181M possibly damaging Het
Stxbp5l G A 16: 37,028,458 (GRCm39) A535V probably damaging Het
Tg A T 15: 66,601,446 (GRCm39) Q152L probably benign Het
Thada T C 17: 84,730,591 (GRCm39) T1036A probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tns1 T A 1: 73,991,856 (GRCm39) T941S probably benign Het
Tppp3 T C 8: 106,194,840 (GRCm39) D97G probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Trpm7 T C 2: 126,690,449 (GRCm39) I210V probably damaging Het
Ubr1 A G 2: 120,711,574 (GRCm39) L1440P probably damaging Het
Utp18 A T 11: 93,766,661 (GRCm39) Y317N probably damaging Het
Zdhhc5 T A 2: 84,522,824 (GRCm39) probably benign Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null 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
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
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'- GGAGCTTTGACCAATCGGAAATCTTCA -3'
(R):5'- GATTTTAAGCAAGATCCCTGCAAGGACT -3'

Sequencing Primer
(F):5'- aattgtcctggtcctcttagtg -3'
(R):5'- GATCCCTGCAAGGACTACAATG -3'
Posted On 2013-06-12