Incidental Mutation 'R7391:Kcnn3'
ID 573415
Institutional Source Beutler Lab
Gene Symbol Kcnn3
Ensembl Gene ENSMUSG00000000794
Gene Name potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3
Synonyms SK3, small conductance calcium-activated potassium channel 3
MMRRC Submission 045473-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.514) question?
Stock # R7391 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 89427471-89579801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89516778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 396 (T396S)
Ref Sequence ENSEMBL: ENSMUSP00000000811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000811]
AlphaFold P58391
Predicted Effect probably benign
Transcript: ENSMUST00000000811
AA Change: T396S

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: T396S

DomainStartEndE-ValueType
low complexity region 30 96 N/A INTRINSIC
low complexity region 139 154 N/A INTRINSIC
low complexity region 213 224 N/A INTRINSIC
Pfam:SK_channel 270 383 3.1e-51 PFAM
Pfam:Ion_trans_2 462 548 2.2e-14 PFAM
CaMBD 562 638 1.04e-49 SMART
low complexity region 684 690 N/A INTRINSIC
low complexity region 718 731 N/A INTRINSIC
Meta Mutation Damage Score 0.0712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (79/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for an insertion of a tetracycline-regulated gene switch display no overt phenotype when expression is abolished by doxycycline treatment; in contrast, untreated homozygotes show abnormal respiratory responses to hypoxia, impaired parturition, and pregnancy-related premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 A T 10: 18,522,007 (GRCm39) I673K probably benign Het
Arhgap32 C A 9: 32,093,235 (GRCm39) T196K probably benign Het
Azi2 T A 9: 117,879,960 (GRCm39) probably null Het
B3gnt2 A T 11: 22,786,482 (GRCm39) C235* probably null Het
Capn5 C T 7: 97,780,426 (GRCm39) V315M probably benign Het
Ccl24 T A 5: 135,599,676 (GRCm39) R111S possibly damaging Het
Cdk9 A G 2: 32,602,083 (GRCm39) V45A probably damaging Het
Cep162 G T 9: 87,130,547 (GRCm39) S21* probably null Het
Chil3 T A 3: 106,071,496 (GRCm39) Y56F probably damaging Het
Ctr9 T A 7: 110,642,378 (GRCm39) L368* probably null Het
Ctss A G 3: 95,436,852 (GRCm39) E45G probably benign Het
Cyp2c29 A T 19: 39,296,211 (GRCm39) Q214L probably null Het
Cyp2d34 T A 15: 82,502,587 (GRCm39) N183I probably benign Het
Dhx29 T A 13: 113,099,393 (GRCm39) N1139K probably benign Het
Elp1 C A 4: 56,781,211 (GRCm39) Q487H possibly damaging Het
Elp1 T G 4: 56,781,212 (GRCm39) Q487P probably benign Het
Ermp1 C A 19: 29,604,468 (GRCm39) probably null Het
Ermp1 T A 19: 29,604,469 (GRCm39) probably null Het
Evi2 A G 11: 79,406,493 (GRCm39) S361P probably benign Het
Ext2 T A 2: 93,560,612 (GRCm39) K518M probably damaging Het
Fgl1 A C 8: 41,663,483 (GRCm39) M15R probably benign Het
Fsip2 T G 2: 82,820,663 (GRCm39) D5465E possibly damaging Het
Hdlbp A T 1: 93,358,783 (GRCm39) I256N possibly damaging Het
Hmmr G T 11: 40,598,613 (GRCm39) probably null Het
Hnrnpu T C 1: 178,164,643 (GRCm39) Q165R unknown Het
Homer3 G A 8: 70,742,134 (GRCm39) A132T probably benign Het
Ift70a1 T C 2: 75,810,359 (GRCm39) K575E probably benign Het
Kcnb1 T C 2: 166,947,370 (GRCm39) R493G probably damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Krtap4-1 A G 11: 99,518,810 (GRCm39) S67P unknown Het
Lama4 G T 10: 38,963,383 (GRCm39) probably null Het
Lrrtm2 T A 18: 35,345,818 (GRCm39) I495F possibly damaging Het
Mical2 A T 7: 111,919,816 (GRCm39) E442V probably damaging Het
Muc16 C T 9: 18,550,832 (GRCm39) V5154I probably benign Het
Nav3 A T 10: 109,539,317 (GRCm39) M2028K probably benign Het
Ncr1 T A 7: 4,347,470 (GRCm39) W249R possibly damaging Het
Neurod6 T C 6: 55,656,616 (GRCm39) D7G probably damaging Het
Nwd1 A G 8: 73,389,046 (GRCm39) E158G probably damaging Het
Or10ak7 A T 4: 118,791,198 (GRCm39) N282K possibly damaging Het
Or2h15 A T 17: 38,441,941 (GRCm39) F47L probably benign Het
Or2t26 A G 11: 49,039,806 (GRCm39) T241A probably damaging Het
Or2y11 T C 11: 49,443,371 (GRCm39) S266P probably damaging Het
Or51a39 T C 7: 102,363,189 (GRCm39) N144D probably benign Het
Padi2 A G 4: 140,665,266 (GRCm39) D457G probably benign Het
Parn C A 16: 13,485,870 (GRCm39) probably null Het
Pcdh1 C T 18: 38,335,838 (GRCm39) E266K possibly damaging Het
Pigr A G 1: 130,777,303 (GRCm39) D703G probably damaging Het
Ppm1f T A 16: 16,732,098 (GRCm39) S183T probably benign Het
Ppp2r5b T A 19: 6,278,544 (GRCm39) Q455L probably benign Het
Pramel20 T A 4: 143,298,876 (GRCm39) L273H probably damaging Het
Ptpn13 C T 5: 103,688,847 (GRCm39) S880L probably damaging Het
R3hdm4 T C 10: 79,746,943 (GRCm39) K240R probably benign Het
Rin1 T C 19: 5,100,888 (GRCm39) M1T probably null Het
Rundc3b T A 5: 8,609,455 (GRCm39) M170L probably benign Het
Ryr3 A T 2: 112,611,322 (GRCm39) probably null Het
Scn11a T C 9: 119,624,783 (GRCm39) D513G probably damaging Het
Slc27a2 C A 2: 126,395,082 (GRCm39) P3Q unknown Het
Slc4a8 A G 15: 100,682,743 (GRCm39) I187M probably damaging Het
Slc6a11 A T 6: 114,215,422 (GRCm39) I441F probably benign Het
Stx2 C T 5: 129,065,867 (GRCm39) R263Q probably damaging Het
Svep1 A T 4: 58,145,185 (GRCm39) W427R probably damaging Het
Tes T A 6: 17,096,166 (GRCm39) H51Q probably damaging Het
Thnsl2 T C 6: 71,108,914 (GRCm39) D299G probably damaging Het
Tmem30b T C 12: 73,592,702 (GRCm39) S138G probably benign Het
Tmprss11c T A 5: 86,385,650 (GRCm39) H274L probably damaging Het
Trim10 G A 17: 37,180,773 (GRCm39) M1I probably null Het
Unc13b A G 4: 43,216,459 (GRCm39) I253V probably benign Het
Unc80 A G 1: 66,734,687 (GRCm39) S3305G probably benign Het
Ush2a TCACC TC 1: 188,694,205 (GRCm39) probably benign Het
Virma A G 4: 11,508,099 (GRCm39) D267G probably damaging Het
Vmn1r46 C T 6: 89,953,607 (GRCm39) S152L probably benign Het
Wdr90 T C 17: 26,065,502 (GRCm39) N1621S probably benign Het
Zfhx3 G A 8: 109,674,475 (GRCm39) A1842T probably damaging Het
Zfp583 A G 7: 6,319,498 (GRCm39) S505P probably damaging Het
Zfp608 T C 18: 55,030,619 (GRCm39) Y1107C possibly damaging Het
Zfp616 A G 11: 73,976,155 (GRCm39) H808R probably benign Het
Zfp677 T C 17: 21,618,653 (GRCm39) F570S possibly damaging Het
Zfp85 A T 13: 67,897,410 (GRCm39) Y221N probably damaging Het
Other mutations in Kcnn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02263:Kcnn3 APN 3 89,568,525 (GRCm39) missense possibly damaging 0.73
IGL02444:Kcnn3 APN 3 89,559,359 (GRCm39) missense possibly damaging 0.50
IGL02500:Kcnn3 APN 3 89,568,419 (GRCm39) splice site probably benign
IGL02814:Kcnn3 APN 3 89,428,482 (GRCm39) missense possibly damaging 0.94
IGL02821:Kcnn3 APN 3 89,428,281 (GRCm39) missense possibly damaging 0.91
IGL02821:Kcnn3 APN 3 89,570,029 (GRCm39) missense possibly damaging 0.84
IGL02852:Kcnn3 APN 3 89,516,923 (GRCm39) missense probably damaging 0.96
IGL02942:Kcnn3 APN 3 89,559,383 (GRCm39) missense probably benign 0.00
IGL03118:Kcnn3 APN 3 89,574,468 (GRCm39) missense probably damaging 1.00
R0015:Kcnn3 UTSW 3 89,570,080 (GRCm39) missense probably damaging 1.00
R0015:Kcnn3 UTSW 3 89,570,080 (GRCm39) missense probably damaging 1.00
R0032:Kcnn3 UTSW 3 89,427,972 (GRCm39) small deletion probably benign
R0370:Kcnn3 UTSW 3 89,574,399 (GRCm39) missense probably damaging 0.98
R0619:Kcnn3 UTSW 3 89,559,337 (GRCm39) missense probably damaging 1.00
R1167:Kcnn3 UTSW 3 89,472,259 (GRCm39) nonsense probably null
R1255:Kcnn3 UTSW 3 89,559,416 (GRCm39) missense possibly damaging 0.84
R1643:Kcnn3 UTSW 3 89,427,804 (GRCm39) missense unknown
R1733:Kcnn3 UTSW 3 89,559,397 (GRCm39) missense probably benign 0.00
R1793:Kcnn3 UTSW 3 89,516,712 (GRCm39) missense probably benign 0.20
R1827:Kcnn3 UTSW 3 89,428,301 (GRCm39) missense possibly damaging 0.75
R1899:Kcnn3 UTSW 3 89,427,762 (GRCm39) start gained probably benign
R2055:Kcnn3 UTSW 3 89,428,682 (GRCm39) missense probably damaging 1.00
R2843:Kcnn3 UTSW 3 89,427,972 (GRCm39) small deletion probably benign
R2922:Kcnn3 UTSW 3 89,428,329 (GRCm39) missense probably damaging 1.00
R4078:Kcnn3 UTSW 3 89,568,495 (GRCm39) missense possibly damaging 0.68
R4227:Kcnn3 UTSW 3 89,428,482 (GRCm39) missense possibly damaging 0.94
R4604:Kcnn3 UTSW 3 89,427,727 (GRCm39) start gained probably benign
R4814:Kcnn3 UTSW 3 89,570,031 (GRCm39) missense probably damaging 1.00
R4822:Kcnn3 UTSW 3 89,574,596 (GRCm39) missense possibly damaging 0.93
R5175:Kcnn3 UTSW 3 89,516,746 (GRCm39) missense probably damaging 1.00
R5211:Kcnn3 UTSW 3 89,428,538 (GRCm39) missense probably benign 0.04
R5438:Kcnn3 UTSW 3 89,428,605 (GRCm39) missense probably damaging 1.00
R5496:Kcnn3 UTSW 3 89,516,797 (GRCm39) missense possibly damaging 0.95
R6244:Kcnn3 UTSW 3 89,552,830 (GRCm39) nonsense probably null
R7625:Kcnn3 UTSW 3 89,516,977 (GRCm39) missense probably damaging 0.99
R7834:Kcnn3 UTSW 3 89,428,661 (GRCm39) missense probably damaging 1.00
R8022:Kcnn3 UTSW 3 89,517,010 (GRCm39) missense possibly damaging 0.92
R8110:Kcnn3 UTSW 3 89,568,540 (GRCm39) missense probably damaging 0.99
R8220:Kcnn3 UTSW 3 89,568,548 (GRCm39) missense probably benign 0.14
R8787:Kcnn3 UTSW 3 89,552,757 (GRCm39) missense possibly damaging 0.93
R9124:Kcnn3 UTSW 3 89,428,536 (GRCm39) missense possibly damaging 0.47
R9256:Kcnn3 UTSW 3 89,574,407 (GRCm39) missense probably damaging 1.00
R9612:Kcnn3 UTSW 3 89,516,703 (GRCm39) missense probably benign 0.09
Z1088:Kcnn3 UTSW 3 89,574,437 (GRCm39) missense probably damaging 1.00
Z1177:Kcnn3 UTSW 3 89,568,443 (GRCm39) missense possibly damaging 0.72
Z1177:Kcnn3 UTSW 3 89,428,230 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGTGACACTCCTGCTCAC -3'
(R):5'- GATGGTCATGAGCGTCTTCATG -3'

Sequencing Primer
(F):5'- TGTCCTGGCCACACTAATG -3'
(R):5'- TCTTCATGACGAATCGGGTG -3'
Posted On 2019-09-13