Mutagenetix > Incidental Mutation

Incidental Mutation 'R4078:Kcnn3'

316668

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

041623-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R4078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89427471-89579801 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89568495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 591 (K591R)

Ref Sequence

ENSEMBL: ENSMUSP00000000811 (fasta)

Gene Model

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

AlphaFold

P58391

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000811
AA Change: K591R

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: K591R

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

0.0752

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (70/73)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,359 (GRCm39)	L367*	probably null	Het
Agfg1	T	A	1: 82,860,008 (GRCm39)	S312T	possibly damaging	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Ambp	T	A	4: 63,068,680 (GRCm39)	K112N	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Asah1	A	G	8: 41,807,119 (GRCm39)	S102P	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cabs1	G	A	5: 88,128,161 (GRCm39)	E271K	probably damaging	Het
Car8	T	C	4: 8,169,731 (GRCm39)	K259R	possibly damaging	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdh4	A	G	2: 179,530,966 (GRCm39)	E616G	possibly damaging	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,540,128 (GRCm39)	D975G	probably damaging	Het
Col27a1	G	T	4: 63,142,669 (GRCm39)	R119L	probably damaging	Het
Col7a1	A	G	9: 108,790,059 (GRCm39)	N918S	unknown	Het
Colec11	T	C	12: 28,645,246 (GRCm39)	N142D	possibly damaging	Het
Cox7a2	G	A	9: 79,665,852 (GRCm39)	Q10*	probably null	Het
Cyp2b23	C	A	7: 26,372,517 (GRCm39)	G366V	probably damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Emsy	G	A	7: 98,239,932 (GRCm39)	P1108S	probably damaging	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
Fam151a	G	A	4: 106,604,954 (GRCm39)	G439S	probably benign	Het
Fat1	C	T	8: 45,442,159 (GRCm39)	P1154S	probably damaging	Het
Fat4	G	A	3: 39,034,169 (GRCm39)	S2607N	probably damaging	Het
Fzd7	T	A	1: 59,522,948 (GRCm39)	M277K	possibly damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Gm38706	G	T	6: 130,460,700 (GRCm39)		noncoding transcript	Het
Gm9758	T	A	5: 14,961,536 (GRCm39)		probably null	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Heatr9	C	A	11: 83,403,254 (GRCm39)	K428N	probably benign	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Khdrbs2	T	C	1: 32,558,895 (GRCm39)		probably benign	Het
Lpp	G	A	16: 24,500,611 (GRCm39)	R141H	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mipep	T	A	14: 61,083,926 (GRCm39)	Y606N	probably damaging	Het
Mroh5	C	A	15: 73,657,889 (GRCm39)	C547F	possibly damaging	Het
Nek3	A	T	8: 22,622,153 (GRCm39)	W363R	probably damaging	Het
Nphs1	T	A	7: 30,166,945 (GRCm39)	Y717*	probably null	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Optc	T	C	1: 133,826,087 (GRCm39)	H270R	probably damaging	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or2l5	T	A	16: 19,333,982 (GRCm39)	M135L	possibly damaging	Het
Or5p80	T	A	7: 108,230,114 (GRCm39)	M305K	probably benign	Het
Or9r7	G	A	10: 129,962,587 (GRCm39)	T113I	probably damaging	Het
Pik3c2g	A	G	6: 139,612,608 (GRCm39)		probably benign	Het
Pms1	A	T	1: 53,306,948 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,142,683 (GRCm39)	I312F	probably benign	Het
Prkg1	T	C	19: 31,562,978 (GRCm39)	Y156C	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Slc22a28	T	A	19: 8,078,777 (GRCm39)	H304L	probably benign	Het
Stox1	C	T	10: 62,501,810 (GRCm39)	C250Y	probably benign	Het
Sult2a3	A	G	7: 13,855,662 (GRCm39)	W65R	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Syne2	C	A	12: 76,082,398 (GRCm39)	T4857K	probably damaging	Het
Tcp1	T	C	17: 13,136,970 (GRCm39)	L64S	probably benign	Het
Thap11	G	T	8: 106,582,548 (GRCm39)	E186*	probably null	Het
Tmem67	A	G	4: 12,040,633 (GRCm39)		probably null	Het
Trappc10	T	C	10: 78,046,216 (GRCm39)	Y458C	probably damaging	Het
Ufd1	A	G	16: 18,644,528 (GRCm39)	Y197C	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,985,674 (GRCm39)	T245A	probably damaging	Het
Washc1	A	T	17: 66,424,156 (GRCm39)	E289D	probably benign	Het
Zc3h7a	A	T	16: 10,969,011 (GRCm39)	V450E	probably benign	Het
Zcchc17	T	G	4: 130,223,418 (GRCm39)	I123L	possibly damaging	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	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
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
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'- CATCTCTGAAGAACCATTTTCTCAGG -3'
(R):5'- TCACAGTGAGTCAAAGGCTAGC -3'

Sequencing Primer
(F):5'- TTTCTCAGGAAGTAGATGGTAGCCAC -3'
(R):5'- TTTGAGTAGAGCAGAGTCGATTTCTC -3'

Posted On

2015-05-15