Mutagenetix > Incidental Mutation

Incidental Mutation 'R9256:Kcnn3'

701850

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R9256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89427471-89579801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89574407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 640 (Y640H)

Ref Sequence

ENSEMBL: ENSMUSP00000000811 (fasta)

Gene Model

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

AlphaFold

P58391

Predicted Effect

probably damaging
Transcript: ENSMUST00000000811
AA Change: Y640H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: Y640H

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

Meta Mutation Damage Score

0.2903

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (70/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,945,930 (GRCm39)	Y21C	probably damaging	Het
Adamts7	A	T	9: 90,060,218 (GRCm39)	I290F	probably damaging	Het
Adcy5	G	A	16: 35,124,052 (GRCm39)	V1244I	probably damaging	Het
Adnp	A	T	2: 168,025,945 (GRCm39)	I450N	probably damaging	Het
AL732309.1	A	T	2: 25,136,211 (GRCm39)	M1K	probably null	Het
Alox15	C	T	11: 70,236,370 (GRCm39)	G510D	possibly damaging	Het
Arhgef16	C	A	4: 154,363,502 (GRCm39)	E685*	probably null	Het
Atp13a2	A	G	4: 140,730,038 (GRCm39)	E643G	probably damaging	Het
AW554918	C	A	18: 25,423,061 (GRCm39)	Q171K	probably damaging	Het
Bdkrb2	A	G	12: 105,558,352 (GRCm39)	T198A	probably benign	Het
C7	T	C	15: 5,023,645 (GRCm39)	E721G	probably damaging	Het
Cc2d2b	T	C	19: 40,797,848 (GRCm39)	Y823H	unknown	Het
Cd74	T	C	18: 60,944,366 (GRCm39)	V192A	probably benign	Het
Cdc42bpg	G	A	19: 6,361,067 (GRCm39)	A231T	probably damaging	Het
Cers6	G	A	2: 68,777,706 (GRCm39)		probably benign	Het
Copg2	T	C	6: 30,788,637 (GRCm39)	I555M	probably benign	Het
Cracd	T	G	5: 76,988,757 (GRCm39)	V36G	unknown	Het
Crnkl1	A	G	2: 145,770,216 (GRCm39)	V209A	possibly damaging	Het
Dock7	T	C	4: 98,971,272 (GRCm39)	T98A		Het
Enpp5	T	C	17: 44,396,414 (GRCm39)	I442T	probably benign	Het
Fbxw19	T	C	9: 109,310,641 (GRCm39)	Y427C	probably damaging	Het
Fktn	T	C	4: 53,744,653 (GRCm39)	V311A	probably benign	Het
Fyb1	T	G	15: 6,674,358 (GRCm39)	S665A	possibly damaging	Het
Igkv6-20	T	C	6: 70,313,417 (GRCm39)	Y16C	probably benign	Het
Ints10	A	G	8: 69,261,129 (GRCm39)	R370G	possibly damaging	Het
Iqub	A	T	6: 24,446,198 (GRCm39)	I742N	possibly damaging	Het
Lrp2	A	G	2: 69,341,303 (GRCm39)	V959A	probably benign	Het
Marcksl1	A	G	4: 129,408,816 (GRCm39)	S132G	probably benign	Het
Mfsd4b3-ps	T	A	10: 39,824,010 (GRCm39)	K83N	probably damaging	Het
Mib1	A	G	18: 10,760,862 (GRCm39)	E384G	possibly damaging	Het
Morn5	G	T	2: 35,939,553 (GRCm39)	G5W	probably damaging	Het
Mrpl46	A	G	7: 78,432,671 (GRCm39)	S36P	probably benign	Het
Mtif2	T	C	11: 29,490,777 (GRCm39)	F494L	probably benign	Het
Naalad2	T	C	9: 18,274,534 (GRCm39)	N336S	probably benign	Het
Nepro	A	G	16: 44,544,790 (GRCm39)	N22S	probably benign	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Or10x4	C	T	1: 174,219,109 (GRCm39)	T158I	probably benign	Het
Or1e1f	A	T	11: 73,856,135 (GRCm39)	I234F	probably benign	Het
Or2d36	T	C	7: 106,747,387 (GRCm39)	I288T	probably damaging	Het
Or8c16	T	A	9: 38,130,498 (GRCm39)	Y123*	probably null	Het
Or9r7	A	G	10: 129,962,335 (GRCm39)	V197A	possibly damaging	Het
Pcnx1	A	T	12: 82,020,047 (GRCm39)	N724Y		Het
Pde8b	G	A	13: 95,164,204 (GRCm39)	R669C	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,290 (GRCm39)		probably null	Het
Pls1	A	G	9: 95,655,696 (GRCm39)	V352A	probably damaging	Het
Prb1b	T	C	6: 132,288,972 (GRCm39)	N284S	unknown	Het
Prtg	A	T	9: 72,758,977 (GRCm39)	I444F	probably damaging	Het
Ptprb	A	T	10: 116,219,776 (GRCm39)	H1998L	probably damaging	Het
Qrich2	A	T	11: 116,356,450 (GRCm39)	V133D	probably benign	Het
Rab35	C	A	5: 115,778,246 (GRCm39)	R71S	probably damaging	Het
Scgb2b12	A	G	7: 32,026,054 (GRCm39)	L46P	probably damaging	Het
Sdha	A	T	13: 74,475,483 (GRCm39)		probably benign	Het
Sdr39u1	C	A	14: 56,135,209 (GRCm39)	V245F	probably benign	Het
Sgo2a	T	A	1: 58,058,772 (GRCm39)	V1117E	possibly damaging	Het
Slc12a2	T	C	18: 58,074,867 (GRCm39)	S1154P	probably damaging	Het
Slc6a1	A	T	6: 114,287,554 (GRCm39)	Q441L	possibly damaging	Het
Smtnl2	A	T	11: 72,293,835 (GRCm39)		probably null	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem38b	A	T	4: 53,848,924 (GRCm39)	I110F	probably damaging	Het
Ubqln1	A	G	13: 58,325,721 (GRCm39)	I573T	probably damaging	Het
Usp9y	T	C	Y: 1,356,235 (GRCm39)	I1155M	possibly damaging	Het
Vipr1	A	G	9: 121,490,118 (GRCm39)	I164V	probably benign	Het
Vps13b	T	G	15: 35,623,925 (GRCm39)	S1281A	possibly damaging	Het
Vps13d	A	G	4: 144,882,374 (GRCm39)	L1073P		Het
Wipi1	C	T	11: 109,473,952 (GRCm39)		probably null	Het
Zdhhc8	G	A	16: 18,042,686 (GRCm39)	P505S	probably damaging	Het
Zfp292	C	T	4: 34,839,899 (GRCm39)	V84I	probably benign	Het
Zfp712	T	C	13: 67,188,791 (GRCm39)	T579A	probably benign	Het
Zfp788	G	A	7: 41,299,638 (GRCm39)	R758Q	probably benign	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
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
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
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'- TGTCCATCACCTGGGAAGTC -3'
(R):5'- CAACTGCTTGAACTTGTGTATGG -3'

Sequencing Primer
(F):5'- GGGAAGTCCTGGAATTCTCC -3'
(R):5'- TAGTTCCCACGGCCACACTG -3'

Posted On

2022-03-25