Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03118:Kcnn3'

409857

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnn3

Ensembl Gene

ENSMUSG00000000794

Gene Name

potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3

Synonyms

small conductance calcium-activated potassium channel 3, SK3

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.503) question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

89520164-89675132 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89667161 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 660 (L660Q)

Ref Sequence

ENSEMBL: ENSMUSP00000000811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000811]

Predicted Effect

probably damaging
Transcript: ENSMUST00000000811
AA Change: L660Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: L660Q

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124584

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,400,450	G921S	probably benign	Het
Abca8b	T	C	11: 109,947,181	T1082A	possibly damaging	Het
AF366264	C	T	8: 13,838,096		probably benign	Het
B9d2	T	C	7: 25,681,476		probably null	Het
Bfsp1	T	C	2: 143,827,333	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,236,753		probably benign	Het
Ccl1	A	G	11: 82,178,070	I47T	probably damaging	Het
Cln3	T	C	7: 126,575,397	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,432,976	R242I	possibly damaging	Het
Dcc	T	C	18: 71,420,273	T771A	probably benign	Het
Erbb4	T	C	1: 68,042,719	D1052G	probably benign	Het
Fcnb	T	C	2: 28,076,618	N301S	probably benign	Het
Gm28043	A	C	17: 29,634,731	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804		probably benign	Het
Ighv5-12	T	A	12: 113,702,578	M1L	probably benign	Het
Il17rd	A	G	14: 27,093,395		probably null	Het
Lcor	C	T	19: 41,558,369	P131S	probably damaging	Het
Leng1	T	C	7: 3,665,410	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,380,464	V827A	probably damaging	Het
Mapk13	A	G	17: 28,777,735	Y208C	probably benign	Het
Mybpc3	T	C	2: 91,124,503	V453A	probably damaging	Het
Odam	T	C	5: 87,885,754	S15P	unknown	Het
Olfr26	A	T	9: 38,855,230	H56L	probably damaging	Het
Olfr323	A	T	11: 58,625,443	V201D	probably damaging	Het
Pcdhb19	T	C	18: 37,499,565		probably benign	Het
Per2	G	T	1: 91,444,619	Y244*	probably null	Het
Pik3ca	A	T	3: 32,459,935	I857F	probably damaging	Het
Pold1	T	A	7: 44,539,400	I447F	probably benign	Het
Ppm1f	T	A	16: 16,914,078	W131R	probably null	Het
Ppp2r2c	A	G	5: 36,926,316	Y67C	probably damaging	Het
Psmb10	A	T	8: 105,936,900	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470	A149V	probably benign	Het
Pygb	T	A	2: 150,820,811	V566E	probably benign	Het
Rictor	G	A	15: 6,759,518	R205Q	possibly damaging	Het
Ryr1	T	A	7: 29,015,786	R4638W	unknown	Het
Sept3	G	A	15: 82,284,514		probably null	Het
Serpina3b	A	T	12: 104,131,054	D198V	probably benign	Het
Slc27a6	C	A	18: 58,556,743	H94N	probably benign	Het
Taf2	C	T	15: 55,052,163	V456M	probably damaging	Het
Tbpl2	T	C	2: 24,087,289	E238G	probably benign	Het
Ttn	C	T	2: 76,754,207	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,935,018		probably benign	Het
Zfp865	T	C	7: 5,034,645		probably benign	Het

Other mutations in Kcnn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02263:Kcnn3	APN	3	89661218	missense	possibly damaging	0.73
IGL02444:Kcnn3	APN	3	89652052	missense	possibly damaging	0.50
IGL02500:Kcnn3	APN	3	89661112	splice site	probably benign
IGL02814:Kcnn3	APN	3	89521175	missense	possibly damaging	0.94
IGL02821:Kcnn3	APN	3	89662722	missense	possibly damaging	0.84
IGL02821:Kcnn3	APN	3	89520974	missense	possibly damaging	0.91
IGL02852:Kcnn3	APN	3	89609616	missense	probably damaging	0.96
IGL02942:Kcnn3	APN	3	89652076	missense	probably benign	0.00
R0015:Kcnn3	UTSW	3	89662773	missense	probably damaging	1.00
R0015:Kcnn3	UTSW	3	89662773	missense	probably damaging	1.00
R0032:Kcnn3	UTSW	3	89520665	small deletion	probably benign
R0370:Kcnn3	UTSW	3	89667092	missense	probably damaging	0.98
R0619:Kcnn3	UTSW	3	89652030	missense	probably damaging	1.00
R1167:Kcnn3	UTSW	3	89564952	nonsense	probably null
R1255:Kcnn3	UTSW	3	89652109	missense	possibly damaging	0.84
R1643:Kcnn3	UTSW	3	89520497	missense	unknown
R1733:Kcnn3	UTSW	3	89652090	missense	probably benign	0.00
R1793:Kcnn3	UTSW	3	89609405	missense	probably benign	0.20
R1827:Kcnn3	UTSW	3	89520994	missense	possibly damaging	0.75
R1899:Kcnn3	UTSW	3	89520455	start gained	probably benign
R2055:Kcnn3	UTSW	3	89521375	missense	probably damaging	1.00
R2843:Kcnn3	UTSW	3	89520665	small deletion	probably benign
R2922:Kcnn3	UTSW	3	89521022	missense	probably damaging	1.00
R4078:Kcnn3	UTSW	3	89661188	missense	possibly damaging	0.68
R4227:Kcnn3	UTSW	3	89521175	missense	possibly damaging	0.94
R4604:Kcnn3	UTSW	3	89520420	start gained	probably benign
R4814:Kcnn3	UTSW	3	89662724	missense	probably damaging	1.00
R4822:Kcnn3	UTSW	3	89667289	missense	possibly damaging	0.93
R5175:Kcnn3	UTSW	3	89609439	missense	probably damaging	1.00
R5211:Kcnn3	UTSW	3	89521231	missense	probably benign	0.04
R5438:Kcnn3	UTSW	3	89521298	missense	probably damaging	1.00
R5496:Kcnn3	UTSW	3	89609490	missense	possibly damaging	0.95
R6244:Kcnn3	UTSW	3	89645523	nonsense	probably null
R7391:Kcnn3	UTSW	3	89609471	missense	probably benign	0.34
R7625:Kcnn3	UTSW	3	89609670	missense	probably damaging	0.99
R7834:Kcnn3	UTSW	3	89521354	missense	probably damaging	1.00
R8022:Kcnn3	UTSW	3	89609703	missense	possibly damaging	0.92
R8110:Kcnn3	UTSW	3	89661233	missense	probably damaging	0.99
R8220:Kcnn3	UTSW	3	89661241	missense	probably benign	0.14
R8787:Kcnn3	UTSW	3	89645450	missense	possibly damaging	0.93
Z1088:Kcnn3	UTSW	3	89667130	missense	probably damaging	1.00
Z1177:Kcnn3	UTSW	3	89520923	missense	probably damaging	1.00
Z1177:Kcnn3	UTSW	3	89661136	missense	possibly damaging	0.72

Posted On

2016-08-02