Mutagenetix > Incidental Mutation

Incidental Mutation 'R4814:Kcnn3'

369621

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

042432-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R4814 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89427471-89579801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89570031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 615 (V615F)

Ref Sequence

ENSEMBL: ENSMUSP00000000811 (fasta)

Gene Model

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

AlphaFold

P58391

Predicted Effect

probably damaging
Transcript: ENSMUST00000000811
AA Change: V615F

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

SMART Domains

Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: V615F

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

Meta Mutation Damage Score

0.3293

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (79/79)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	G	16: 56,471,116 (GRCm39)	V587G	probably benign	Het
Abtb2	A	G	2: 103,547,632 (GRCm39)	D1002G	probably benign	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acsm1	A	T	7: 119,254,687 (GRCm39)	I385L	probably benign	Het
Adra1a	C	G	14: 66,875,481 (GRCm39)	A152G	probably benign	Het
Agbl4	A	T	4: 111,513,565 (GRCm39)	Y437F	possibly damaging	Het
Amt	A	G	9: 108,176,979 (GRCm39)	T196A	probably benign	Het
Apobr	G	A	7: 126,185,859 (GRCm39)	V457M	probably benign	Het
Birc6	A	G	17: 74,956,667 (GRCm39)	K3563E	probably damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Chrna9	T	C	5: 66,134,492 (GRCm39)	W448R	probably damaging	Het
Cyp4a31	A	T	4: 115,427,466 (GRCm39)	D224V	probably damaging	Het
Ddx10	C	A	9: 53,115,405 (GRCm39)	R643L	possibly damaging	Het
Dip2c	A	G	13: 9,586,896 (GRCm39)	H200R	probably benign	Het
Dnah8	A	T	17: 30,986,898 (GRCm39)	R3182S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Egfr	T	C	11: 16,819,354 (GRCm39)	C295R	probably damaging	Het
Garem1	A	T	18: 21,281,173 (GRCm39)	N394K	probably damaging	Het
Gcat	T	C	15: 78,915,322 (GRCm39)		probably null	Het
Gckr	C	T	5: 31,455,644 (GRCm39)	Q66*	probably null	Het
Gm26996	A	T	6: 130,556,317 (GRCm39)		noncoding transcript	Het
Gm9386	C	A	17: 81,246,141 (GRCm39)		noncoding transcript	Het
Gpr6	A	T	10: 40,947,258 (GRCm39)	M108K	possibly damaging	Het
H2-Q10	A	C	17: 35,784,481 (GRCm39)		probably benign	Het
Hpf1	A	G	8: 61,346,841 (GRCm39)	D52G	probably damaging	Het
Jak2	A	G	19: 29,279,377 (GRCm39)	R989G	probably damaging	Het
Kat7	A	G	11: 95,193,949 (GRCm39)		probably benign	Het
Lgi1	G	T	19: 38,289,326 (GRCm39)		probably null	Het
Lrrtm4	A	T	6: 80,000,117 (GRCm39)	T510S	possibly damaging	Het
Map7d1	A	G	4: 126,128,114 (GRCm39)		probably null	Het
Mapt	T	C	11: 104,189,786 (GRCm39)	V252A	probably benign	Het
Mbd4	A	T	6: 115,826,260 (GRCm39)	S223T	possibly damaging	Het
Meig1	T	A	2: 3,412,959 (GRCm39)	I21L	probably benign	Het
Mia3	A	G	1: 183,113,684 (GRCm39)	Y447H	probably damaging	Het
Mrpl46	A	C	7: 78,430,343 (GRCm39)	N142K	probably benign	Het
Myo18a	C	A	11: 77,750,062 (GRCm39)		probably benign	Het
Nup188	A	G	2: 30,216,523 (GRCm39)	T776A	possibly damaging	Het
Oas1h	C	A	5: 121,000,728 (GRCm39)	H113N	probably damaging	Het
Or6c202	T	A	10: 128,996,245 (GRCm39)	T203S	possibly damaging	Het
Or7g18	A	G	9: 18,787,213 (GRCm39)	I197V	probably benign	Het
Or7g27	C	T	9: 19,250,476 (GRCm39)	T240M	probably damaging	Het
Or9i1b	A	T	19: 13,896,817 (GRCm39)	L144F	possibly damaging	Het
Orc3	T	A	4: 34,572,450 (GRCm39)		probably benign	Het
Osbpl3	T	A	6: 50,329,980 (GRCm39)	L65F	probably damaging	Het
Papola	C	A	12: 105,765,912 (GRCm39)	P4Q	probably damaging	Het
Pepd	A	G	7: 34,645,022 (GRCm39)	N151S	probably damaging	Het
Plekhm2	A	G	4: 141,355,150 (GRCm39)	L959P	probably benign	Het
Prpf40a	A	T	2: 53,080,032 (GRCm39)	H82Q	probably damaging	Het
Robo1	C	T	16: 72,768,923 (GRCm39)	T496M	probably benign	Het
Samd9l	T	G	6: 3,372,863 (GRCm39)	Q1466P	probably damaging	Het
Serpina1a	T	C	12: 103,821,022 (GRCm39)	T342A	probably benign	Het
Serpina3i	A	G	12: 104,231,470 (GRCm39)	T36A	probably benign	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Slc35g1	A	G	19: 38,391,275 (GRCm39)	S186G	possibly damaging	Het
Slco6d1	T	A	1: 98,350,899 (GRCm39)	D126E	probably benign	Het
Smchd1	A	G	17: 71,718,763 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,687,337 (GRCm39)	T355K	probably damaging	Het
Sntg2	A	G	12: 30,423,267 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,284 (GRCm39)	M152L	probably benign	Het
Spats2l	G	T	1: 57,977,085 (GRCm39)	A308S	possibly damaging	Het
Tcf12	T	C	9: 71,777,323 (GRCm39)		probably benign	Het
Tcf7l2	T	A	19: 55,912,504 (GRCm39)	C478*	probably null	Het
Tekt5	A	G	16: 10,200,771 (GRCm39)	L250P	probably damaging	Het
Tmem132d	T	G	5: 128,061,328 (GRCm39)	I425L	probably benign	Het
Tmem174	T	A	13: 98,773,456 (GRCm39)	I125F	probably damaging	Het
Trafd1	T	G	5: 121,512,079 (GRCm39)	I404L	probably benign	Het
Trpm5	G	A	7: 142,636,373 (GRCm39)	P500S	possibly damaging	Het
Trpm6	T	A	19: 18,839,576 (GRCm39)	N1616K	probably benign	Het
Vmn1r4	A	G	6: 56,933,715 (GRCm39)	D73G	possibly damaging	Het
Vmn2r85	T	A	10: 130,254,567 (GRCm39)	I706F	probably benign	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zfp982	A	G	4: 147,597,090 (GRCm39)	Q149R	possibly damaging	Het

Other mutations in Kcnn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCATTCATGGAAACAACCGTTTG -3'
(R):5'- GCCACGTGTTAAAGGACAGGAC -3'

Sequencing Primer
(F):5'- GAAACAACCGTTTGCTTTCTCGG -3'
(R):5'- TGCCACTCACCTTGGAAA -3'

Posted On

2016-02-04