Mutagenetix > Incidental Mutation

Incidental Mutation 'R9124:Kcnn3'

693071

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: 0.514) question?

Stock #

R9124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89427471-89579801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89428536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 254 (T254I)

Ref Sequence

ENSEMBL: ENSMUSP00000000811 (fasta)

Gene Model

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

AlphaFold

P58391

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000811
AA Change: T254I

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: T254I

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (91/91)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	T	15: 60,792,679 (GRCm39)	N89K	possibly damaging	Het
Abca5	A	T	11: 110,189,005 (GRCm39)	D817E	possibly damaging	Het
Abca8b	G	A	11: 109,828,593 (GRCm39)	S1435F	probably damaging	Het
Akap9	T	C	5: 4,111,284 (GRCm39)	L3115P	probably damaging	Het
Arhgap39	G	A	15: 76,619,467 (GRCm39)	R706W	probably damaging	Het
Atp5mk	T	C	19: 47,074,578 (GRCm39)	M28V	probably benign	Het
BC061237	A	T	14: 44,740,851 (GRCm39)	I84F	possibly damaging	Het
Bhlhe22	T	C	3: 18,109,342 (GRCm39)	S131P	probably damaging	Het
Brinp1	C	A	4: 68,747,582 (GRCm39)	D174Y	probably damaging	Het
Bsdc1	A	G	4: 129,359,068 (GRCm39)	T40A	probably benign	Het
Ccdc65	A	T	15: 98,618,863 (GRCm39)	K281*	probably null	Het
Cd22	T	C	7: 30,572,662 (GRCm39)	I316V	probably benign	Het
Cdhr18	A	G	14: 13,864,354 (GRCm38)	F324S		Het
Cfap100	A	C	6: 90,386,330 (GRCm39)	I275S		Het
Chd3	T	G	11: 69,260,162 (GRCm39)	E19A	unknown	Het
Chrnb1	T	C	11: 69,685,057 (GRCm39)	D91G	probably benign	Het
Cr1l	A	G	1: 194,799,925 (GRCm39)	S250P	possibly damaging	Het
Csmd1	A	G	8: 16,034,806 (GRCm39)	V2455A	probably damaging	Het
Dbp	C	T	7: 45,357,818 (GRCm39)	R229C	probably damaging	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah6	C	A	6: 73,098,882 (GRCm39)	V2058F	possibly damaging	Het
Dsp	T	A	13: 38,377,276 (GRCm39)	V1687D	probably benign	Het
Dtd1	T	A	2: 144,445,798 (GRCm39)	M45K	possibly damaging	Het
Fat1	T	A	8: 45,403,363 (GRCm39)	F38Y	probably benign	Het
Fat1	T	A	8: 45,478,064 (GRCm39)	V2370E	possibly damaging	Het
Fgfr1	T	A	8: 26,060,185 (GRCm39)	D438E	probably damaging	Het
Fsip2	A	T	2: 82,816,103 (GRCm39)	K3945N	probably benign	Het
Galc	C	A	12: 98,220,423 (GRCm39)		probably null	Het
Git1	C	A	11: 77,395,498 (GRCm39)	D398E	possibly damaging	Het
Gm4924	A	G	10: 82,214,875 (GRCm39)	Q891R	unknown	Het
Gpc2	T	C	5: 138,274,784 (GRCm39)		probably benign	Het
Havcr2	C	T	11: 46,360,388 (GRCm39)	T205I	probably benign	Het
Herc2	A	G	7: 55,834,056 (GRCm39)	N3087S	probably damaging	Het
Ifi204	C	T	1: 173,579,193 (GRCm39)		probably null	Het
Imp4	C	T	1: 34,479,128 (GRCm39)	R4W	unknown	Het
Itfg2	A	G	6: 128,401,770 (GRCm39)	S3P	probably damaging	Het
Kics2	C	T	10: 121,586,416 (GRCm39)	Q244*	probably null	Het
Kpna1	A	G	16: 35,853,644 (GRCm39)	I425V	probably benign	Het
Krt23	A	T	11: 99,383,755 (GRCm39)	S46T	probably damaging	Het
Loxl4	C	A	19: 42,596,099 (GRCm39)	W118L	probably damaging	Het
Lrrc37	T	C	11: 103,509,721 (GRCm39)	Y749C	unknown	Het
Lysmd2	T	A	9: 75,533,075 (GRCm39)	L10Q	probably damaging	Het
Mcm5	T	A	8: 75,851,418 (GRCm39)		probably benign	Het
Mctp2	T	A	7: 71,909,178 (GRCm39)	D45V	probably damaging	Het
Mdfic2	T	A	6: 98,318,899 (GRCm39)	N22I	possibly damaging	Het
Mfsd10	T	C	5: 34,791,940 (GRCm39)	T341A	probably benign	Het
Micu1	T	A	10: 59,586,335 (GRCm39)	L170Q	probably damaging	Het
Msantd5	T	C	11: 51,125,481 (GRCm39)	S135P	probably benign	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Myo15a	A	T	11: 60,369,952 (GRCm39)	Q904L	probably benign	Het
Myo6	G	A	9: 80,195,353 (GRCm39)	D908N	unknown	Het
Nlrp4e	A	T	7: 23,020,403 (GRCm39)	M297L	probably benign	Het
Nptn	A	G	9: 58,558,498 (GRCm39)		probably benign	Het
Oas3	A	C	5: 120,912,170 (GRCm39)	D73E	probably damaging	Het
Or12j5	T	A	7: 140,084,222 (GRCm39)	H50L	probably benign	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or6d13	A	T	6: 116,517,416 (GRCm39)	M1L	probably null	Het
Or6n1	T	C	1: 173,917,341 (GRCm39)	L245P	probably damaging	Het
Pck1	C	G	2: 172,997,018 (GRCm39)	A220G	probably benign	Het
Pigq	G	A	17: 26,156,233 (GRCm39)	T65I	probably damaging	Het
Pld2	T	C	11: 70,431,696 (GRCm39)	F9L	probably damaging	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Pnkd	A	G	1: 74,386,602 (GRCm39)	R138G	possibly damaging	Het
Ralgapa1	A	T	12: 55,781,881 (GRCm39)	I781N	probably damaging	Het
Ranbp2	A	G	10: 58,328,719 (GRCm39)	I2873V	probably benign	Het
Rpn2	C	A	2: 157,139,458 (GRCm39)	Q283K	probably benign	Het
Shmt2	A	G	10: 127,355,561 (GRCm39)	S178P	possibly damaging	Het
Shroom3	A	G	5: 93,112,401 (GRCm39)	K1921E	probably benign	Het
Slc20a1	A	G	2: 129,051,142 (GRCm39)	S600G	probably damaging	Het
Slco1a7	A	G	6: 141,668,830 (GRCm39)	V534A	possibly damaging	Het
Slit1	C	T	19: 41,594,951 (GRCm39)	V1140I	probably benign	Het
Sncg	T	C	14: 34,095,640 (GRCm39)	S51G	possibly damaging	Het
Spon2	C	A	5: 33,372,935 (GRCm39)	D256Y	possibly damaging	Het
Srcap	G	T	7: 127,159,874 (GRCm39)	R3250L	unknown	Het
Sun1	T	G	5: 139,231,121 (GRCm39)	Y763*	probably null	Het
Synj1	A	T	16: 90,735,513 (GRCm39)	F1480Y	probably benign	Het
Tbc1d30	T	A	10: 121,132,716 (GRCm39)	N216I	probably damaging	Het
Tent2	A	T	13: 93,284,160 (GRCm39)	L465*	probably null	Het
Tgfb1	A	T	7: 25,388,580 (GRCm39)	K39*	probably null	Het
Tmem87a	A	G	2: 120,224,841 (GRCm39)		probably null	Het
Tmem8b	C	A	4: 43,681,982 (GRCm39)	R452S	probably benign	Het
Tnfsf13b	A	G	8: 10,056,966 (GRCm39)	I42V	probably benign	Het
Trpc2	A	G	7: 101,745,090 (GRCm39)	T769A	possibly damaging	Het
Ttc3	A	G	16: 94,236,389 (GRCm39)	T1033A	probably benign	Het
Ttll13	C	T	7: 79,906,751 (GRCm39)	A473V	probably damaging	Het
U2surp	G	A	9: 95,346,468 (GRCm39)	R908*	probably null	Het
Ube2s	A	G	7: 4,814,510 (GRCm39)	Y17H	probably damaging	Het
Vmn1r94	A	T	7: 19,901,509 (GRCm39)	M265K	probably benign	Het
Vmn2r23	T	C	6: 123,719,038 (GRCm39)	I797T	possibly damaging	Het
Yipf3	A	T	17: 46,559,895 (GRCm39)	E70D	probably benign	Het
Zcchc14	G	A	8: 122,331,969 (GRCm39)	P465S	unknown	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp707	T	C	15: 75,845,468 (GRCm39)	S111P		Het
Zfp738	T	C	13: 67,819,457 (GRCm39)	E178G	possibly damaging	Het
Zfr	A	T	15: 12,136,757 (GRCm39)	N138I	unknown	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
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'- AATACAGCGGTGGGGTCATG -3'
(R):5'- CCACAGTCCCTACCTTTGAG -3'

Sequencing Primer
(F):5'- GCCTCTCGGAGAAACCTTATCGAG -3'
(R):5'- GTCCCTACCTTTGAGTACAAACC -3'

Posted On

2022-01-20