Incidental Mutation 'R5211:Kcnn3'
ID 403121
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 042785-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.514) question?
Stock # R5211 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89427471-89579801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89428538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 255 (T255A)
Ref Sequence ENSEMBL: ENSMUSP00000000811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000811]
AlphaFold P58391
Predicted Effect probably benign
Transcript: ENSMUST00000000811
AA Change: T255A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: T255A

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A G 14: 70,394,233 (GRCm39) S181P probably benign Het
Adgrf5 A T 17: 43,733,511 (GRCm39) T112S probably benign Het
Ascc2 T C 11: 4,623,399 (GRCm39) V545A possibly damaging Het
Bmp2 A T 2: 133,396,550 (GRCm39) S69C probably damaging Het
Btaf1 T A 19: 36,973,962 (GRCm39) I1378K probably benign Het
Ces2b C T 8: 105,561,695 (GRCm39) T263I possibly damaging Het
Cntn5 A T 9: 9,704,894 (GRCm39) V635D possibly damaging Het
Dock6 T C 9: 21,731,648 (GRCm39) E1218G probably benign Het
Eml6 T C 11: 29,804,145 (GRCm39) I319V probably benign Het
Esd T C 14: 74,978,632 (GRCm39) S65P probably damaging Het
Exoc1l C A 5: 76,664,250 (GRCm39) T113K possibly damaging Het
Fstl3 A T 10: 79,616,012 (GRCm39) Q166L probably benign Het
Garin1a A T 6: 29,286,098 (GRCm39) K128* probably null Het
Gcn1 T A 5: 115,757,371 (GRCm39) S2445T probably benign Het
Gfy C A 7: 44,827,282 (GRCm39) L271F possibly damaging Het
Gjc2 A G 11: 59,068,284 (GRCm39) V66A possibly damaging Het
H3c4 G T 13: 23,760,015 (GRCm39) G14C possibly damaging Het
Itm2c T A 1: 85,834,249 (GRCm39) V188E probably damaging Het
Jmjd1c C G 10: 67,067,795 (GRCm39) S1766C probably damaging Het
Kdm4d A C 9: 14,374,400 (GRCm39) V486G probably benign Het
Krt18 T G 15: 101,939,888 (GRCm39) I362S probably damaging Het
Lrrc8d G A 5: 105,961,606 (GRCm39) R672Q probably damaging Het
Ly6f G A 15: 75,143,652 (GRCm39) V120M probably damaging Het
Map3k4 A G 17: 12,451,321 (GRCm39) V1524A possibly damaging Het
Mrgprh T C 17: 13,095,889 (GRCm39) V43A probably benign Het
Mx2 A T 16: 97,348,633 (GRCm39) M269L probably damaging Het
Myrfl C T 10: 116,634,535 (GRCm39) V620I probably benign Het
Nlrp9b G A 7: 19,783,381 (GRCm39) C908Y probably damaging Het
Nyap2 T A 1: 81,064,991 (GRCm39) M1K probably null Het
Olfml3 A T 3: 103,644,515 (GRCm39) H51Q probably benign Het
Or11h6 C T 14: 50,880,710 (GRCm39) T324I possibly damaging Het
Pcdhb1 G A 18: 37,399,704 (GRCm39) V552I probably benign Het
Pm20d1 T A 1: 131,734,647 (GRCm39) I353N possibly damaging Het
Sbk2 A G 7: 4,965,966 (GRCm39) F73L possibly damaging Het
Scn10a A C 9: 119,490,298 (GRCm39) L548R possibly damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slmap T C 14: 26,204,117 (GRCm39) Y68C probably damaging Het
Syde2 T C 3: 145,707,093 (GRCm39) V611A probably benign Het
Sympk A G 7: 18,769,814 (GRCm39) M164V probably benign Het
Syt17 T C 7: 118,041,626 (GRCm39) S43G probably benign Het
Ubr1 T C 2: 120,723,651 (GRCm39) T1303A possibly damaging Het
Vmn2r100 A G 17: 19,746,257 (GRCm39) Y535C possibly 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
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
R7391:Kcnn3 UTSW 3 89,516,778 (GRCm39) missense probably benign 0.34
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'- AGCTCCTGCAAATACAGCGG -3'
(R):5'- TTGAGTACAAACCCCAAGACAGTTC -3'

Sequencing Primer
(F):5'- CTCTCGGAGAAACCTTATCGAGG -3'
(R):5'- GACAGTTCGGTCTCTATCACCATAAC -3'
Posted On 2016-07-22