Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Kcnn3'

214060

Institutional Source

Beutler Lab

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

MMRRC Submission

039919-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.598) question?

Stock #

R1899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89520164-89675132 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

A to T at 89520455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000811 (fasta)

Gene Model

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

AlphaFold

P58391

Predicted Effect

probably benign
Transcript: ENSMUST00000000811

SMART Domains

Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794

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

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,258,342	W378R	probably benign	Het
4930522L14Rik	T	A	5: 109,736,798	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,810,132	K162T	probably damaging	Het
Abca8b	G	T	11: 109,937,918	T1353K	possibly damaging	Het
Abcg3	A	C	5: 104,938,199	C565G	probably damaging	Het
Actr3b	G	A	5: 25,829,538	V185I	possibly damaging	Het
Akap6	A	T	12: 53,141,852	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 3,978,662	V148A	possibly damaging	Het
Ankfy1	C	T	11: 72,754,407	Q771*	probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arrb1	T	C	7: 99,582,297		probably benign	Het
Atg2a	C	A	19: 6,245,067	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804	R617C	possibly damaging	Het
Bicra	T	C	7: 15,987,751	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,391,642	D167G	possibly damaging	Het
Calr4	T	G	4: 109,246,293		probably null	Het
Camsap3	G	T	8: 3,603,922	E515*	probably null	Het
Casp8ap2	T	C	4: 32,643,647	S907P	probably damaging	Het
Cdk19	T	A	10: 40,479,780		probably benign	Het
Chst14	A	G	2: 118,927,015	M122V	possibly damaging	Het
Cntn4	A	G	6: 106,675,813	M748V	probably benign	Het
Col7a1	A	G	9: 108,978,888	D2552G	unknown	Het
Cpeb2	C	A	5: 43,277,587	P600Q	probably damaging	Het
Cyp2a5	C	T	7: 26,839,033	R274*	probably null	Het
Dexi	A	G	16: 10,542,518	F58S	probably damaging	Het
Dlg5	C	A	14: 24,148,300	G1522W	probably damaging	Het
Dock2	T	C	11: 34,294,286	H1048R	probably benign	Het
Dpp4	T	C	2: 62,345,050		probably benign	Het
Dusp10	A	T	1: 184,069,180	K381N	possibly damaging	Het
Ercc4	A	G	16: 13,147,787	E761G	probably damaging	Het
Ern2	T	C	7: 122,183,842		probably benign	Het
Fam83f	A	T	15: 80,692,080	T311S	probably damaging	Het
Fat2	T	C	11: 55,262,178	D3736G	probably benign	Het
Fgf11	G	T	11: 69,801,453	T58K	probably benign	Het
Galntl5	C	G	5: 25,198,532	S167*	probably null	Het
Glg1	T	G	8: 111,165,674	E846D	probably benign	Het
Grm8	C	A	6: 28,125,895	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,657,451	D3028E	probably damaging	Het
Htt	A	G	5: 34,907,085	I2943V	probably benign	Het
Ift80	T	C	3: 68,918,513	K498R	probably benign	Het
Ipo9	A	T	1: 135,400,146	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,437,244	V15A	probably damaging	Het
Larp1b	T	A	3: 40,964,084	D53E	probably benign	Het
Ltf	T	C	9: 111,022,845	F117L	possibly damaging	Het
Maml1	A	G	11: 50,266,130	L406P	probably damaging	Het
Mnx1	G	A	5: 29,473,957	A376V	unknown	Het
Mroh2a	G	A	1: 88,235,376	R376H	probably benign	Het
Mrpl4	A	G	9: 21,006,831	Y111C	probably damaging	Het
Mto1	T	C	9: 78,461,517		probably benign	Het
Nalcn	A	T	14: 123,316,126	M972K	possibly damaging	Het
Nemf	T	C	12: 69,346,378	I225V	probably null	Het
Nipal4	T	G	11: 46,150,231	D379A	probably damaging	Het
Nktr	A	G	9: 121,748,866		probably benign	Het
Nlrp5	A	G	7: 23,404,797	T28A	probably benign	Het
Nxph1	T	A	6: 9,247,622	Y198N	probably damaging	Het
Olfr1037	A	T	2: 86,085,720	V19D	probably benign	Het
Olfr1230	T	C	2: 89,296,670	N200S	probably damaging	Het
Olfr1436	T	C	19: 12,298,343	Y263C	probably damaging	Het
P2rx7	A	G	5: 122,673,736	Y370C	probably benign	Het
Piezo1	T	C	8: 122,482,645		probably benign	Het
Piezo1	T	C	8: 122,489,566	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,969,363	L879P	probably benign	Het
Polr2a	A	T	11: 69,743,946	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366	E886*	probably null	Het
Proca1	A	T	11: 78,205,021	I73F	probably damaging	Het
Prss55	A	T	14: 64,079,390	V101E	probably benign	Het
Psg26	T	A	7: 18,478,425	H335L	probably benign	Het
Rai1	A	G	11: 60,185,920	E270G	probably benign	Het
Reep1	A	G	6: 71,780,797	N127D	probably benign	Het
Rims1	G	T	1: 22,428,474	P769Q	probably damaging	Het
Robo4	A	T	9: 37,404,070		probably benign	Het
Ryr2	A	T	13: 11,591,336	D888E	probably benign	Het
Scamp3	A	G	3: 89,180,260	N135D	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sema4f	A	G	6: 82,918,029	M395T	probably benign	Het
Sgip1	T	C	4: 102,968,337		probably null	Het
Sik2	A	T	9: 50,995,674		probably benign	Het
Smtn	G	T	11: 3,531,326	A223D	possibly damaging	Het
Spen	T	C	4: 141,470,343	T3405A	probably benign	Het
Srebf1	A	G	11: 60,203,486	L601P	probably damaging	Het
Srsf11	A	T	3: 158,031,580		probably benign	Het
Tacc2	T	G	7: 130,624,202	S891R	possibly damaging	Het
Tbc1d17	T	A	7: 44,841,633		probably benign	Het
Tgfbr3l	C	A	8: 4,249,600	R128S	probably damaging	Het
Thsd1	G	A	8: 22,252,318		probably benign	Het
Tlx3	T	C	11: 33,203,072	S130G	probably benign	Het
Tmem25	A	T	9: 44,798,216		probably null	Het
Trak2	A	T	1: 58,946,336	M1K	probably null	Het
Trappc12	C	T	12: 28,746,985	E183K	probably damaging	Het
Ubl3	A	G	5: 148,509,280	V71A	possibly damaging	Het
Unc50	A	G	1: 37,438,799	Y254C	probably damaging	Het
Unkl	T	C	17: 25,229,460		probably null	Het
Uso1	T	A	5: 92,201,192	S819T	probably benign	Het
Yes1	A	T	5: 32,645,051	R103S	probably damaging	Het
Zfp131	A	G	13: 119,767,025	V396A	probably damaging	Het
Zfp553	T	C	7: 127,235,654	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,251,549	N102K	probably benign	Het
Zmynd10	A	T	9: 107,550,037	Q288L	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
IGL03118:Kcnn3	APN	3	89667161	missense	probably damaging	1.00
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
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
R9124:Kcnn3	UTSW	3	89521229	missense	possibly damaging	0.47
R9256:Kcnn3	UTSW	3	89667100	missense	probably damaging	1.00
R9612:Kcnn3	UTSW	3	89609396	missense	probably benign	0.09
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

Predicted Primers

PCR Primer
(F):5'- CCCAATACAATGCATACTCGAGTG -3'
(R):5'- ACAAGCTGGCTCTGGAGTTG -3'

Sequencing Primer
(F):5'- CAATGCATACTCGAGTGGCAGC -3'
(R):5'- CTCTGGAGTTGGGCAAGC -3'

Posted On

2014-07-14