Incidental Mutation 'R9516:Kcnq2'
ID 718536
Institutional Source Beutler Lab
Gene Symbol Kcnq2
Ensembl Gene ENSMUSG00000016346
Gene Name potassium voltage-gated channel, subfamily Q, member 2
Synonyms Nmf134, KQT2
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9516 (G1)
Quality Score 220.009
Status Not validated
Chromosome 2
Chromosomal Location 180717372-180777093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180776753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 45 (S45P)
Ref Sequence ENSEMBL: ENSMUSP00000122915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016491] [ENSMUST00000049792] [ENSMUST00000081528] [ENSMUST00000103047] [ENSMUST00000103048] [ENSMUST00000103050] [ENSMUST00000149964] [ENSMUST00000103051] [ENSMUST00000197015]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000016491
AA Change: S45P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000016491
Gene: ENSMUSG00000016346
AA Change: S45P

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 7.3e-29 PFAM
Pfam:Ion_trans_2 237 317 2.5e-14 PFAM
Pfam:KCNQ_channel 436 595 2e-59 PFAM
Pfam:KCNQ_channel 593 673 1.7e-22 PFAM
low complexity region 711 723 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000049792
AA Change: S45P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000052453
Gene: ENSMUSG00000016346
AA Change: S45P

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 7.2e-29 PFAM
Pfam:Ion_trans_2 237 317 2.5e-14 PFAM
Pfam:KCNQ_channel 436 565 3.1e-55 PFAM
Pfam:KCNQ_channel 587 668 6.8e-23 PFAM
low complexity region 706 718 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081528
AA Change: S45P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000080243
Gene: ENSMUSG00000016346
AA Change: S45P

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 4.3e-29 PFAM
Pfam:Ion_trans_2 237 317 1.7e-14 PFAM
Pfam:KCNQ_channel 436 564 2.3e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103047
AA Change: S45P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099336
Gene: ENSMUSG00000016346
AA Change: S45P

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 7.1e-29 PFAM
Pfam:Ion_trans_2 237 317 2.5e-14 PFAM
Pfam:KCNQ_channel 424 583 2e-59 PFAM
Pfam:KCNQ_channel 581 661 1.7e-22 PFAM
low complexity region 699 711 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103048
AA Change: S45P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000099337
Gene: ENSMUSG00000016346
AA Change: S45P

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 6.7e-29 PFAM
Pfam:Ion_trans_2 237 317 2.4e-14 PFAM
Pfam:KCNQ_channel 436 637 1.3e-82 PFAM
low complexity region 675 687 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103049
SMART Domains Protein: ENSMUSP00000099338
Gene: ENSMUSG00000016346

DomainStartEndE-ValueType
Pfam:Ion_trans 35 268 3.7e-32 PFAM
Pfam:Ion_trans_2 181 261 1.1e-14 PFAM
Pfam:KCNQ_channel 392 584 1e-92 PFAM
Pfam:KCNQ2_u3 591 679 3.9e-39 PFAM
Pfam:KCNQC3-Ank-G_bd 692 791 1.1e-48 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000099339
Gene: ENSMUSG00000016346
AA Change: S45P

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 8.7e-29 PFAM
Pfam:Ion_trans_2 237 317 2.9e-14 PFAM
Pfam:KCNQ_channel 436 637 1.7e-82 PFAM
low complexity region 675 687 N/A INTRINSIC
Pfam:KCNQC3-Ank-G_bd 737 839 1.6e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149964
AA Change: S45P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122915
Gene: ENSMUSG00000016346
AA Change: S45P

DomainStartEndE-ValueType
Pfam:Ion_trans 91 324 4.4e-32 PFAM
Pfam:Ion_trans_2 237 317 1.3e-14 PFAM
low complexity region 418 431 N/A INTRINSIC
Pfam:KCNQ_channel 466 659 6.2e-94 PFAM
Pfam:KCNQ2_u3 666 754 4.5e-39 PFAM
Pfam:KCNQC3-Ank-G_bd 767 866 1.2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103051
AA Change: S45P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000099340
Gene: ENSMUSG00000016346
AA Change: S45P

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 8.9e-29 PFAM
Pfam:Ion_trans_2 237 317 2.9e-14 PFAM
Pfam:KCNQ_channel 446 647 1.7e-82 PFAM
low complexity region 685 697 N/A INTRINSIC
Pfam:KCNQC3-Ank-G_bd 747 849 1.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197015
AA Change: S45P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000143263
Gene: ENSMUSG00000016346
AA Change: S45P

DomainStartEndE-ValueType
transmembrane domain 93 115 N/A INTRINSIC
Pfam:Ion_trans 128 312 8.7e-29 PFAM
Pfam:Ion_trans_2 237 317 2.9e-14 PFAM
Pfam:KCNQ_channel 436 637 1.7e-82 PFAM
low complexity region 675 687 N/A INTRINSIC
Pfam:KCNQC3-Ank-G_bd 737 839 1.6e-51 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die perinatally with pulmonary atelectasis. Heterozygous mice exhibit a hypersensitivity to the epileptic inducer pentylenetetrazole. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik T C 2: 150,153,122 (GRCm39) N88D possibly damaging Het
4933430I17Rik A G 4: 62,460,916 (GRCm39) I264V probably benign Het
Abcc8 A G 7: 45,787,429 (GRCm39) F591L probably benign Het
Abr G T 11: 76,310,658 (GRCm39) T810K probably damaging Het
Abracl T C 10: 17,894,631 (GRCm39) E6G unknown Het
Adamts3 A T 5: 89,834,750 (GRCm39) Y871N probably damaging Het
Akap13 T C 7: 75,354,275 (GRCm39) Y80H probably benign Het
Alas1 A G 9: 106,115,840 (GRCm39) probably null Het
Anapc1 A C 2: 128,517,633 (GRCm39) L337R possibly damaging Het
Apaf1 T C 10: 90,915,816 (GRCm39) Y24C probably damaging Het
Arhgef16 A G 4: 154,365,432 (GRCm39) V561A possibly damaging Het
Atp10b T A 11: 43,121,224 (GRCm39) H962Q probably benign Het
Brsk2 A G 7: 141,546,852 (GRCm39) T432A probably benign Het
C1rl T A 6: 124,485,802 (GRCm39) V391E probably damaging Het
Caps2 A T 10: 112,036,637 (GRCm39) H399L probably benign Het
Ccdc43 C A 11: 102,577,207 (GRCm39) K199N probably benign Het
Ccdc7a G T 8: 129,555,774 (GRCm39) P1198T unknown Het
Cct7 A G 6: 85,444,625 (GRCm39) Y423C possibly damaging Het
Cep112 A G 11: 108,648,514 (GRCm39) T783A probably damaging Het
Cep250 A G 2: 155,833,459 (GRCm39) T1795A probably benign Het
Clasp1 T G 1: 118,431,560 (GRCm39) S397A possibly damaging Het
Clock A C 5: 76,377,227 (GRCm39) F691V possibly damaging Het
Cmklr1 A G 5: 113,752,341 (GRCm39) V220A probably benign Het
Coro2b A T 9: 62,335,291 (GRCm39) Y298* probably null Het
Cspg4b A T 13: 113,455,649 (GRCm39) N565I Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dlk2 G A 17: 46,613,432 (GRCm39) G186D probably damaging Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
Dok3 A G 13: 55,672,186 (GRCm39) I164T probably benign Het
Ercc5 T A 1: 44,207,041 (GRCm39) D651E probably damaging Het
Erp27 T C 6: 136,885,066 (GRCm39) K244R probably benign Het
Fhip1a G A 3: 85,580,559 (GRCm39) Q549* probably null Het
Flvcr2 T C 12: 85,793,954 (GRCm39) V110A possibly damaging Het
Gsta3 T C 1: 21,320,060 (GRCm39) L22P probably damaging Het
Hdac5 T C 11: 102,093,522 (GRCm39) T493A probably benign Het
Hivep2 T A 10: 14,005,523 (GRCm39) I707N probably benign Het
Hmox1 A G 8: 75,823,544 (GRCm39) N71D probably benign Het
Hnrnpr G T 4: 136,063,615 (GRCm39) V342F probably damaging Het
Ifi44 T C 3: 151,438,108 (GRCm39) D393G probably damaging Het
Ighv1-82 A T 12: 115,916,566 (GRCm39) F9I probably damaging Het
Kalrn A G 16: 33,854,864 (GRCm39) S1999P probably damaging Het
Krt77 A T 15: 101,769,779 (GRCm39) Y364N probably damaging Het
Kti12 T C 4: 108,705,476 (GRCm39) V130A probably benign Het
Lama2 T C 10: 27,100,015 (GRCm39) E830G probably benign Het
Lrrn1 T A 6: 107,545,505 (GRCm39) H434Q probably benign Het
Med13 A T 11: 86,179,801 (GRCm39) N1382K probably benign Het
Mrpl42 A G 10: 95,332,684 (GRCm39) probably null Het
Mtor A G 4: 148,569,103 (GRCm39) D1140G probably benign Het
Mtrr A G 13: 68,720,755 (GRCm39) I280T probably benign Het
Myh4 A T 11: 67,139,290 (GRCm39) I536F probably damaging Het
Myh4 T A 11: 67,141,129 (GRCm39) N730K probably damaging Het
Nat10 A C 2: 103,563,364 (GRCm39) L545R probably damaging Het
Nav3 T A 10: 109,520,015 (GRCm39) D2356V probably damaging Het
Nbea A T 3: 55,937,366 (GRCm39) S748R probably damaging Het
Nlrp1a T C 11: 70,998,488 (GRCm39) T904A probably benign Het
Nod2 A T 8: 89,397,050 (GRCm39) N820I probably damaging Het
Nptx1 A G 11: 119,433,381 (GRCm39) V406A probably damaging Het
Nrdc T A 4: 108,901,863 (GRCm39) I644K probably benign Het
Or4e1 T C 14: 52,700,873 (GRCm39) I198V probably benign Het
Ostf1 T A 19: 18,573,735 (GRCm39) I38F probably benign Het
Pacc1 G A 1: 191,082,004 (GRCm39) R337Q probably damaging Het
Pde4b G T 4: 102,462,183 (GRCm39) D605Y probably damaging Het
Pde4d A G 13: 109,397,196 (GRCm39) T3A Het
Pknox1 A G 17: 31,822,183 (GRCm39) I317V probably damaging Het
Plekhh2 A G 17: 84,918,240 (GRCm39) N1283S probably benign Het
Ppp3cb G A 14: 20,573,868 (GRCm39) A289V probably damaging Het
Prag1 A G 8: 36,607,208 (GRCm39) D983G probably damaging Het
Psmd13 C T 7: 140,478,455 (GRCm39) T62M Het
Rab42 C T 4: 132,029,890 (GRCm39) V111I Het
Rabl2 T A 15: 89,474,631 (GRCm39) probably null Het
Rapgef6 T A 11: 54,582,169 (GRCm39) S1365R probably damaging Het
Rassf4 G T 6: 116,617,265 (GRCm39) H247N possibly damaging Het
Rbfox1 A G 16: 7,227,573 (GRCm39) T363A probably benign Het
Rbmyf9 T A Y: 3,774,888 (GRCm39) F28L probably damaging Het
Sbf1 T C 15: 89,184,742 (GRCm39) D1091G probably damaging Het
Scaper A G 9: 55,593,275 (GRCm39) V454A probably benign Het
Selenbp2 G A 3: 94,607,352 (GRCm39) D258N probably benign Het
Sirpa A T 2: 129,457,555 (GRCm39) I210F probably damaging Het
Skint4 T C 4: 112,015,236 (GRCm39) S434P probably benign Het
Slc26a5 G A 5: 22,016,337 (GRCm39) Q682* probably null Het
Slco4a1 C T 2: 180,115,943 (GRCm39) S693F possibly damaging Het
Smpd3 A G 8: 106,992,119 (GRCm39) F145L probably benign Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Spata31d1c A T 13: 65,184,040 (GRCm39) L527F probably damaging Het
Srd5a3 A G 5: 76,297,794 (GRCm39) N199D probably benign Het
Stard9 C G 2: 120,534,564 (GRCm39) P3607R probably damaging Het
Sytl1 A G 4: 132,986,291 (GRCm39) probably null Het
Tas2r126 A G 6: 42,412,307 (GRCm39) H280R probably null Het
Tcf4 C T 18: 69,652,944 (GRCm39) probably benign Het
Tlcd2 A G 11: 75,359,112 (GRCm39) T28A probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem119 A G 5: 113,933,267 (GRCm39) L178P probably damaging Het
Tmprss7 T C 16: 45,484,564 (GRCm39) D532G probably benign Het
Tnfaip8l3 A G 9: 53,934,777 (GRCm39) I66T probably benign Het
Tor1b A G 2: 30,843,185 (GRCm39) Y50C probably damaging Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Tpra1 T C 6: 88,887,221 (GRCm39) V193A probably benign Het
Trip12 A T 1: 84,735,215 (GRCm39) V932E probably damaging Het
Ttn T A 2: 76,777,104 (GRCm39) T1479S unknown Het
Unc13c A T 9: 73,392,220 (GRCm39) V2044D probably damaging Het
Usp25 T G 16: 76,852,076 (GRCm39) V197G probably damaging Het
Vmn2r34 A G 7: 7,675,366 (GRCm39) V674A probably benign Het
Zfp7 T C 15: 76,775,484 (GRCm39) S509P probably damaging Het
Zfp821 A G 8: 110,447,856 (GRCm39) T66A probably damaging Het
Zfp97 T A 17: 17,365,930 (GRCm39) N476K possibly damaging Het
Other mutations in Kcnq2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Kcnq2 APN 2 180,751,582 (GRCm39) unclassified probably benign
IGL02064:Kcnq2 APN 2 180,750,819 (GRCm39) missense probably damaging 1.00
IGL02231:Kcnq2 APN 2 180,723,508 (GRCm39) missense probably benign 0.22
IGL02261:Kcnq2 APN 2 180,723,483 (GRCm39) missense probably damaging 0.98
IGL02510:Kcnq2 APN 2 180,723,154 (GRCm39) missense probably benign
IGL02583:Kcnq2 APN 2 180,723,295 (GRCm39) missense probably benign 0.01
IGL02627:Kcnq2 APN 2 180,724,120 (GRCm39) unclassified probably benign
IGL03303:Kcnq2 APN 2 180,724,182 (GRCm39) missense probably benign
R0269:Kcnq2 UTSW 2 180,738,767 (GRCm39) missense probably benign 0.00
R1535:Kcnq2 UTSW 2 180,776,618 (GRCm39) missense probably damaging 1.00
R1688:Kcnq2 UTSW 2 180,728,826 (GRCm39) missense probably damaging 1.00
R1776:Kcnq2 UTSW 2 180,742,350 (GRCm39) missense probably benign 0.01
R1946:Kcnq2 UTSW 2 180,730,244 (GRCm39) missense probably benign 0.09
R2105:Kcnq2 UTSW 2 180,723,145 (GRCm39) missense probably benign 0.03
R2382:Kcnq2 UTSW 2 180,753,900 (GRCm39) missense probably damaging 1.00
R2912:Kcnq2 UTSW 2 180,723,567 (GRCm39) missense probably damaging 1.00
R3826:Kcnq2 UTSW 2 180,746,693 (GRCm39) missense possibly damaging 0.56
R3898:Kcnq2 UTSW 2 180,751,479 (GRCm39) missense probably damaging 0.97
R4282:Kcnq2 UTSW 2 180,722,946 (GRCm39) missense probably damaging 1.00
R4938:Kcnq2 UTSW 2 180,728,766 (GRCm39) missense probably damaging 0.96
R4962:Kcnq2 UTSW 2 180,753,836 (GRCm39) missense possibly damaging 0.59
R5055:Kcnq2 UTSW 2 180,728,554 (GRCm39) intron probably benign
R5107:Kcnq2 UTSW 2 180,750,340 (GRCm39) intron probably benign
R5371:Kcnq2 UTSW 2 180,776,813 (GRCm39) missense probably damaging 1.00
R5557:Kcnq2 UTSW 2 180,776,690 (GRCm39) missense probably benign 0.07
R5839:Kcnq2 UTSW 2 180,751,544 (GRCm39) missense probably damaging 1.00
R5998:Kcnq2 UTSW 2 180,728,801 (GRCm39) missense probably damaging 1.00
R6084:Kcnq2 UTSW 2 180,729,449 (GRCm39) missense possibly damaging 0.53
R6207:Kcnq2 UTSW 2 180,755,026 (GRCm39) missense possibly damaging 0.49
R6744:Kcnq2 UTSW 2 180,727,099 (GRCm39) missense possibly damaging 0.94
R7018:Kcnq2 UTSW 2 180,723,517 (GRCm39) nonsense probably null
R7266:Kcnq2 UTSW 2 180,776,885 (GRCm39) start codon destroyed probably null 0.92
R7291:Kcnq2 UTSW 2 180,730,172 (GRCm39) missense possibly damaging 0.69
R7319:Kcnq2 UTSW 2 180,750,895 (GRCm39) missense probably damaging 1.00
R7447:Kcnq2 UTSW 2 180,754,887 (GRCm39) missense probably damaging 0.97
R7573:Kcnq2 UTSW 2 180,723,382 (GRCm39) missense probably benign 0.04
R7897:Kcnq2 UTSW 2 180,722,934 (GRCm39) missense probably damaging 1.00
R8942:Kcnq2 UTSW 2 180,724,244 (GRCm39) missense probably damaging 1.00
R9381:Kcnq2 UTSW 2 180,751,562 (GRCm39) missense probably damaging 0.97
R9394:Kcnq2 UTSW 2 180,724,217 (GRCm39) missense probably benign
R9544:Kcnq2 UTSW 2 180,729,407 (GRCm39) missense probably damaging 1.00
R9592:Kcnq2 UTSW 2 180,728,813 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAACCCGAGACTGCAATGC -3'
(R):5'- CAATGGCGTCGTAGGGGTTAAG -3'

Sequencing Primer
(F):5'- AGCTGCGCCTGCTATCAAC -3'
(R):5'- TAGGAACGCAGAGCCGC -3'
Posted On 2022-07-18