Mutagenetix > Incidental Mutation

Incidental Mutation 'R4720:Kcnn2'

354417

Institutional Source

Beutler Lab

Gene Symbol

Kcnn2

Ensembl Gene

ENSMUSG00000054477

Gene Name

potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2

Synonyms

small conductance calcium-activated potassium channel 2, bc, fri, SK2

MMRRC Submission

041958-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R4720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45401927-45819091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45816187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 333 (T333S)

Ref Sequence

ENSEMBL: ENSMUSP00000129659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066890] [ENSMUST00000169783] [ENSMUST00000183850] [ENSMUST00000211323]

AlphaFold

P58390

Predicted Effect

probably benign
Transcript: ENSMUST00000066890
AA Change: T738S

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: T738S

Domain	Start	End	E-Value	Type
low complexity region	62	76	N/A	INTRINSIC
low complexity region	84	90	N/A	INTRINSIC
low complexity region	98	114	N/A	INTRINSIC
low complexity region	129	141	N/A	INTRINSIC
low complexity region	158	180	N/A	INTRINSIC
low complexity region	198	212	N/A	INTRINSIC
low complexity region	219	254	N/A	INTRINSIC
low complexity region	279	289	N/A	INTRINSIC
low complexity region	301	326	N/A	INTRINSIC
low complexity region	345	373	N/A	INTRINSIC
Pfam:SK_channel	380	493	2.2e-51	PFAM
transmembrane domain	516	535	N/A	INTRINSIC
Pfam:Ion_trans_2	572	658	2.2e-14	PFAM
CaMBD	672	748	6.51e-51	SMART
coiled coil region	751	784	N/A	INTRINSIC
low complexity region	815	839	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169783
AA Change: T333S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129659
Gene: ENSMUSG00000054477
AA Change: T333S

Domain	Start	End	E-Value	Type
low complexity region	14	24	N/A	INTRINSIC
low complexity region	36	61	N/A	INTRINSIC
low complexity region	80	108	N/A	INTRINSIC
Pfam:SK_channel	115	215	1.4e-36	PFAM
Pfam:Ion_trans_2	169	254	9.5e-15	PFAM
CaMBD	267	343	6.51e-51	SMART
coiled coil region	346	379	N/A	INTRINSIC
low complexity region	410	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183850
AA Change: T473S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: T473S

Domain	Start	End	E-Value	Type
low complexity region	62	76	N/A	INTRINSIC
low complexity region	84	90	N/A	INTRINSIC
low complexity region	98	114	N/A	INTRINSIC
low complexity region	129	141	N/A	INTRINSIC
low complexity region	158	180	N/A	INTRINSIC
low complexity region	198	212	N/A	INTRINSIC
low complexity region	219	254	N/A	INTRINSIC
low complexity region	279	289	N/A	INTRINSIC
low complexity region	301	326	N/A	INTRINSIC
low complexity region	345	373	N/A	INTRINSIC
Pfam:SK_channel	380	498	2.9e-60	PFAM
transmembrane domain	516	535	N/A	INTRINSIC
Pfam:Ion_trans_2	573	659	1.8e-14	PFAM
CaMBD	672	748	6.51e-51	SMART
coiled coil region	751	784	N/A	INTRINSIC
low complexity region	815	839	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184994

Predicted Effect

probably benign
Transcript: ENSMUST00000211323
AA Change: T473S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.0909

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a point mutation exhibit tremor and gait abnormalities. Homozygous null mice lack the apamin sensitive component of the medium afterhyperpolarization current but have normal hippocampal morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,018,248 (GRCm39)	I1124T	probably damaging	Het
Acacb	A	G	5: 114,367,975 (GRCm39)	T1658A	possibly damaging	Het
Acvrl1	C	A	15: 101,033,654 (GRCm39)	P112Q	probably damaging	Het
Ankar	A	T	1: 72,738,170 (GRCm39)	I4K	possibly damaging	Het
Ankfn1	G	C	11: 89,332,252 (GRCm39)	D431E	possibly damaging	Het
Apobec4	T	C	1: 152,632,425 (GRCm39)	V151A	possibly damaging	Het
Atp10b	A	G	11: 43,093,949 (GRCm39)	S498G	probably benign	Het
Azin1	A	G	15: 38,493,744 (GRCm39)	V293A	probably benign	Het
Ccdc88b	T	C	19: 6,835,083 (GRCm39)	E46G	probably damaging	Het
Ccdc96	T	C	5: 36,642,219 (GRCm39)		probably benign	Het
Ccnyl1	A	G	1: 64,752,290 (GRCm39)	D169G	probably benign	Het
Cdca3	T	A	6: 124,809,127 (GRCm39)	V89E	probably damaging	Het
Cdh19	A	T	1: 110,823,111 (GRCm39)		probably null	Het
Chka	G	A	19: 3,936,375 (GRCm39)	V238I	probably damaging	Het
Cntn3	T	C	6: 102,218,983 (GRCm39)	K546E	possibly damaging	Het
Crybg3	A	G	16: 59,360,180 (GRCm39)	V787A	probably damaging	Het
Dlgap3	T	C	4: 127,089,508 (GRCm39)		probably null	Het
Dnah8	C	T	17: 30,902,608 (GRCm39)	L889F	probably benign	Het
Dnah9	T	C	11: 65,967,184 (GRCm39)	E1658G	probably damaging	Het
Dnajc11	A	G	4: 152,052,996 (GRCm39)	D102G	probably damaging	Het
Dync1i2	T	G	2: 71,064,018 (GRCm39)	S121A	probably damaging	Het
Ece1	G	A	4: 137,684,486 (GRCm39)	E591K	probably damaging	Het
Enthd1	G	A	15: 80,444,510 (GRCm39)	S15L	probably damaging	Het
Epb41l2	T	A	10: 25,347,524 (GRCm39)	H372Q	probably damaging	Het
Errfi1	T	A	4: 150,951,204 (GRCm39)	Y211N	probably damaging	Het
Fam193b	G	A	13: 55,691,250 (GRCm39)	T208M	probably benign	Het
Flacc1	T	C	1: 58,717,507 (GRCm39)	I135V	possibly damaging	Het
Fmnl2	C	T	2: 52,997,552 (GRCm39)	T501M	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm4841	G	T	18: 60,403,135 (GRCm39)	D319E	probably benign	Het
Gucd1	A	G	10: 75,345,494 (GRCm39)	F187S	probably damaging	Het
Hcar2	GCGGATGCGCAC	GC	5: 124,002,752 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,880,210 (GRCm39)	D502G	probably damaging	Het
Hspa2	A	G	12: 76,451,639 (GRCm39)	E111G	possibly damaging	Het
Htr2a	T	A	14: 74,882,499 (GRCm39)	S162T	probably damaging	Het
Ift80	A	G	3: 68,869,623 (GRCm39)	Y223H	possibly damaging	Het
Il1rl1	A	G	1: 40,485,838 (GRCm39)	K330E	probably benign	Het
Il23r	A	T	6: 67,400,645 (GRCm39)	F562I	probably damaging	Het
Isx	T	C	8: 75,600,487 (GRCm39)		probably null	Het
Jcad	G	A	18: 4,674,055 (GRCm39)	V606I	probably benign	Het
Kcnq5	C	T	1: 21,473,274 (GRCm39)	A630T	probably damaging	Het
Kif2c	T	C	4: 117,028,946 (GRCm39)	M188V	probably benign	Het
Kntc1	T	C	5: 123,903,086 (GRCm39)	V321A	possibly damaging	Het
Krtap4-8	A	T	11: 99,671,271 (GRCm39)		probably benign	Het
Lcor	G	C	19: 41,574,334 (GRCm39)	A1030P	probably benign	Het
Lgals3bp	A	C	11: 118,289,295 (GRCm39)	L52R	probably damaging	Het
Lipk	C	A	19: 33,999,099 (GRCm39)	H126Q	probably damaging	Het
Lpgat1	T	C	1: 191,495,779 (GRCm39)	Y323H	probably damaging	Het
Lrp2	T	G	2: 69,311,517 (GRCm39)	N2654H	probably damaging	Het
Lsm14b	C	T	2: 179,669,774 (GRCm39)	Q6*	probably null	Het
Lysmd3	C	T	13: 81,817,584 (GRCm39)	A187V	possibly damaging	Het
Map2k5	A	G	9: 63,201,001 (GRCm39)	S211P	probably damaging	Het
Mlph	A	T	1: 90,869,419 (GRCm39)	I474F	probably damaging	Het
Mpped2	T	C	2: 106,614,091 (GRCm39)	S142P	probably damaging	Het
Nemf	A	C	12: 69,371,062 (GRCm39)	M678R	probably benign	Het
Nfe2l1	A	T	11: 96,718,515 (GRCm39)	Y7N	probably damaging	Het
Nfkbie	T	G	17: 45,867,232 (GRCm39)	D122E	probably benign	Het
Noc3l	C	A	19: 38,778,066 (GRCm39)	A783S	probably benign	Het
Nol8	T	C	13: 49,816,229 (GRCm39)	V761A	probably damaging	Het
Nvl	A	G	1: 180,929,152 (GRCm39)	L743P	probably damaging	Het
Or1j1	T	A	2: 36,702,484 (GRCm39)	I207F	probably benign	Het
Plcb1	A	G	2: 135,093,667 (GRCm39)	K160R	possibly damaging	Het
Plekhg3	G	T	12: 76,625,096 (GRCm39)	G1313C	possibly damaging	Het
Plekhh1	GTCAAA	G	12: 79,122,194 (GRCm39)		probably null	Het
Popdc3	G	A	10: 45,191,002 (GRCm39)	V38I	probably benign	Het
Prdx3	A	T	19: 60,858,551 (GRCm39)	V114D	possibly damaging	Het
Prkdc	T	A	16: 15,485,579 (GRCm39)	S469T	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Reln	A	T	5: 22,491,894 (GRCm39)	F113I	possibly damaging	Het
Rims1	A	G	1: 22,497,731 (GRCm39)	Y808H	probably damaging	Het
Rsbn1	C	A	3: 103,836,336 (GRCm39)	T458N	possibly damaging	Het
Serpina3b	A	G	12: 104,096,889 (GRCm39)	S57G	possibly damaging	Het
Skor2	G	T	18: 76,948,878 (GRCm39)		probably null	Het
Slc22a4	A	T	11: 53,879,719 (GRCm39)	Y447N	probably damaging	Het
Slco1a7	C	A	6: 141,668,948 (GRCm39)	A495S	probably damaging	Het
Stx19	G	T	16: 62,642,682 (GRCm39)	R166L	probably damaging	Het
Svep1	T	C	4: 58,205,869 (GRCm39)	T170A	possibly damaging	Het
Sycp2	T	G	2: 178,016,225 (GRCm39)	S746R	probably benign	Het
Tchh	G	T	3: 93,355,189 (GRCm39)	R1543L	unknown	Het
Tjp2	T	C	19: 24,078,169 (GRCm39)	D908G	probably damaging	Het
Ttc8	C	A	12: 98,946,068 (GRCm39)	A452E	possibly damaging	Het
Unc5a	T	A	13: 55,151,696 (GRCm39)	W709R	probably null	Het
Unc80	T	A	1: 66,549,951 (GRCm39)	S736R	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,788 (GRCm39)	H387Q	probably benign	Het
Vmn2r39	C	T	7: 9,026,469 (GRCm39)		probably null	Het
Vmn2r88	T	A	14: 51,650,702 (GRCm39)	D138E	probably benign	Het
Vwce	T	C	19: 10,625,831 (GRCm39)	F448L	possibly damaging	Het
Wdr75	C	T	1: 45,861,645 (GRCm39)	S695F	probably benign	Het
Zfand4	T	C	6: 116,265,122 (GRCm39)		probably null	Het
Zfp511	T	A	7: 139,617,424 (GRCm39)		probably null	Het
Zfyve9	T	C	4: 108,501,565 (GRCm39)	K584E	possibly damaging	Het

Other mutations in Kcnn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Kcnn2	APN	18	45,725,303 (GRCm39)	missense	probably damaging	0.98
IGL00341:Kcnn2	APN	18	45,810,138 (GRCm39)	splice site	probably benign
IGL01317:Kcnn2	APN	18	45,693,694 (GRCm39)	splice site	probably null
IGL02121:Kcnn2	APN	18	45,694,340 (GRCm39)	missense	probably damaging	0.98
IGL02561:Kcnn2	APN	18	45,725,259 (GRCm39)	missense	possibly damaging	0.59
IGL03000:Kcnn2	APN	18	45,693,635 (GRCm39)	missense	probably damaging	0.97
IGL03116:Kcnn2	APN	18	45,788,273 (GRCm39)	missense	probably damaging	1.00
IGL03155:Kcnn2	APN	18	45,818,382 (GRCm39)	missense	probably damaging	0.99
IGL03289:Kcnn2	APN	18	45,810,111 (GRCm39)	missense	probably damaging	1.00
IGL03343:Kcnn2	APN	18	45,810,026 (GRCm39)	missense	probably damaging	0.97
jitter	UTSW	18	45,694,320 (GRCm39)	synonymous	silent
I2288:Kcnn2	UTSW	18	45,808,340 (GRCm39)	intron	probably benign
R0256:Kcnn2	UTSW	18	45,725,472 (GRCm39)	missense	probably damaging	0.98
R0310:Kcnn2	UTSW	18	45,693,585 (GRCm39)	missense	probably damaging	1.00
R0464:Kcnn2	UTSW	18	45,693,426 (GRCm39)	missense	probably damaging	0.99
R0468:Kcnn2	UTSW	18	45,692,538 (GRCm39)	missense	possibly damaging	0.96
R0485:Kcnn2	UTSW	18	45,693,215 (GRCm39)	missense	probably benign	0.06
R0722:Kcnn2	UTSW	18	45,692,543 (GRCm39)	missense	possibly damaging	0.73
R0898:Kcnn2	UTSW	18	45,692,543 (GRCm39)	missense	possibly damaging	0.73
R1567:Kcnn2	UTSW	18	45,803,401 (GRCm39)	splice site	probably null
R4543:Kcnn2	UTSW	18	45,692,715 (GRCm39)	missense	probably benign	0.00
R4732:Kcnn2	UTSW	18	45,693,416 (GRCm39)	missense	possibly damaging	0.94
R4733:Kcnn2	UTSW	18	45,693,416 (GRCm39)	missense	possibly damaging	0.94
R4801:Kcnn2	UTSW	18	45,818,334 (GRCm39)	splice site	probably benign
R4844:Kcnn2	UTSW	18	45,816,187 (GRCm39)	missense	possibly damaging	0.78
R4927:Kcnn2	UTSW	18	45,692,798 (GRCm39)	missense	probably benign	0.01
R5011:Kcnn2	UTSW	18	45,818,352 (GRCm39)	missense	possibly damaging	0.86
R5108:Kcnn2	UTSW	18	45,725,122 (GRCm39)	missense	probably damaging	0.99
R5805:Kcnn2	UTSW	18	45,816,198 (GRCm39)	missense	probably damaging	0.98
R5841:Kcnn2	UTSW	18	45,692,463 (GRCm39)	missense	probably benign
R5888:Kcnn2	UTSW	18	45,725,412 (GRCm39)	missense	probably damaging	0.98
R5926:Kcnn2	UTSW	18	45,818,351 (GRCm39)	missense	probably benign	0.01
R6552:Kcnn2	UTSW	18	45,693,165 (GRCm39)	missense	probably benign	0.00
R6882:Kcnn2	UTSW	18	45,692,505 (GRCm39)	missense	possibly damaging	0.53
R6999:Kcnn2	UTSW	18	45,725,444 (GRCm39)	missense	probably damaging	0.99
R7324:Kcnn2	UTSW	18	45,693,138 (GRCm39)	missense	probably benign
R7509:Kcnn2	UTSW	18	45,816,187 (GRCm39)	missense	probably benign	0.32
R7667:Kcnn2	UTSW	18	45,692,505 (GRCm39)	missense	possibly damaging	0.53
R8064:Kcnn2	UTSW	18	45,692,426 (GRCm39)	start codon destroyed	probably benign	0.01
R8122:Kcnn2	UTSW	18	45,810,005 (GRCm39)	missense	probably damaging	0.99
R8730:Kcnn2	UTSW	18	45,725,139 (GRCm39)	missense	possibly damaging	0.75
R8768:Kcnn2	UTSW	18	45,692,502 (GRCm39)	missense	possibly damaging	0.53
R9183:Kcnn2	UTSW	18	45,694,379 (GRCm39)	missense	probably damaging	0.99
R9278:Kcnn2	UTSW	18	45,725,446 (GRCm39)	missense	probably damaging	0.96
R9597:Kcnn2	UTSW	18	45,816,149 (GRCm39)	missense	probably benign	0.16
R9773:Kcnn2	UTSW	18	45,788,365 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATAACCAGTGTGGACTTTACCC -3'
(R):5'- TGAGCATATGAACTCAGCCC -3'

Sequencing Primer
(F):5'- CCCCAAATAGTCAAGGCATTTTC -3'
(R):5'- GCATATGAACTCAGCCCATATTTTAG -3'

Posted On

2015-10-21