Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:Kcnn2'

457844

Institutional Source

Beutler Lab

Gene Symbol

Kcnn2

Ensembl Gene

ENSMUSG00000054477

Gene Name

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

Synonyms

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

MMRRC Submission

044089-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R5888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45268860-45686024 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45592345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 303 (I303F)

Ref Sequence

ENSEMBL: ENSMUSP00000148153 (fasta)

Gene Model

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

AlphaFold

P58390

Predicted Effect

probably damaging
Transcript: ENSMUST00000066890
AA Change: I568F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: I568F

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

noncoding transcript
Transcript: ENSMUST00000167895

SMART Domains

Protein: ENSMUSP00000126285
Gene: ENSMUSG00000054477

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	233	7e-61	PFAM
transmembrane domain	251	270	N/A	INTRINSIC
Pfam:Ion_trans_2	306	394	6.2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169783

SMART Domains

Protein: ENSMUSP00000129659
Gene: ENSMUSG00000054477

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 damaging
Transcript: ENSMUST00000183850
AA Change: I303F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: I303F

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: ENSMUST00000183897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184101

Predicted Effect

probably damaging
Transcript: ENSMUST00000211323
AA Change: I303F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,671	S38P	probably benign	Het
Adcy1	T	A	11: 7,139,095	V503E	possibly damaging	Het
Alk	C	A	17: 71,874,943	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,355,919	I208N	possibly damaging	Het
Asap2	T	A	12: 21,218,190	I319N	probably damaging	Het
Atp11b	T	C	3: 35,837,547	I1036T	probably benign	Het
B4gat1	T	C	19: 5,039,532	F186L	probably benign	Het
C3	T	A	17: 57,214,831	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,537,464	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,690,726	G266R	probably damaging	Het
Cd63	T	A	10: 128,912,291		probably null	Het
Chd7	G	A	4: 8,866,382	M851I	probably damaging	Het
Chst13	T	A	6: 90,309,572	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,373,813	T179A	probably benign	Het
Dclre1b	A	T	3: 103,803,737	V286E	probably damaging	Het
Defb45	G	A	2: 152,593,234		probably benign	Het
Dlg1	T	C	16: 31,791,886		probably null	Het
Dock3	A	G	9: 107,023,803	V321A	probably benign	Het
Dytn	A	T	1: 63,677,237	V59E	possibly damaging	Het
Eif2ak1	A	G	5: 143,886,915	I393M	probably damaging	Het
Fam83g	A	T	11: 61,702,594	E318V	probably benign	Het
Fbxo34	T	A	14: 47,529,719	F179I	probably damaging	Het
Fmo5	T	A	3: 97,641,725	Y230N	probably benign	Het
Fzd9	T	G	5: 135,249,463		probably null	Het
Gata2	T	C	6: 88,200,740	S251P	probably benign	Het
Gigyf1	A	G	5: 137,525,697	D1043G	probably damaging	Het
Gm10260	G	A	13: 97,760,393	R66*	probably null	Het
Gm10322	T	A	10: 59,616,303	S81T	probably benign	Het
Gm11639	T	C	11: 104,721,401		probably benign	Het
Gm15517	A	T	7: 44,260,642		probably benign	Het
Haus4	T	C	14: 54,544,219	T232A	probably benign	Het
Hgfac	A	T	5: 35,045,407	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,635,610	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 87,746,649	R195L	probably benign	Het
Kcnt1	T	C	2: 25,908,110	F879S	probably damaging	Het
Kndc1	T	C	7: 139,895,217	F11L	probably benign	Het
Kpna7	A	G	5: 144,989,795	F449S	probably damaging	Het
Krt77	G	T	15: 101,865,453	N255K	probably benign	Het
Lair1	A	T	7: 4,010,845	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,402,515	V1318A	probably damaging	Het
March10	A	T	11: 105,402,146	V145D	possibly damaging	Het
Mcpt1	T	A	14: 56,019,512	M169K	probably benign	Het
Mdc1	T	A	17: 35,847,820	V364E	probably benign	Het
Mfsd11	T	C	11: 116,871,384	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,922,035	D108A	probably benign	Het
Mink1	A	T	11: 70,610,059		probably benign	Het
Mmp25	T	C	17: 23,631,074	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,191,506	V52I	probably benign	Het
Msh4	C	T	3: 153,867,723		probably null	Het
Muc5b	T	G	7: 141,858,421	S1701R	unknown	Het
Naalad2	A	T	9: 18,330,641	S656T	probably benign	Het
Ncapd2	T	C	6: 125,187,089	Y64C	probably damaging	Het
Ncapg2	T	A	12: 116,425,800	S347T	possibly damaging	Het
Nipal4	T	C	11: 46,151,339	T172A	probably damaging	Het
Nrros	T	C	16: 32,143,087	K652R	probably benign	Het
Nrxn3	G	T	12: 89,512,085	A983S	possibly damaging	Het
Olfr1084	A	C	2: 86,639,144	L188R	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,244		noncoding transcript	Het
Olfr1220	T	A	2: 89,097,925	M1L	probably damaging	Het
Olfr1249	T	A	2: 89,630,799	Y33F	probably damaging	Het
Olfr1283	T	C	2: 111,368,743	M37T	probably benign	Het
Olfr631	A	G	7: 103,929,032	T70A	possibly damaging	Het
Olfr938	A	T	9: 39,077,967	Y259*	probably null	Het
P2rx4	T	A	5: 122,719,165	S155T	probably benign	Het
P2rx4	T	G	5: 122,727,208	Y299D	probably damaging	Het
Pcsk6	A	T	7: 66,043,624	L7F	probably null	Het
Pdss2	T	C	10: 43,221,797		silent	Het
Pfkl	A	G	10: 77,991,370	V494A	possibly damaging	Het
Prep	G	T	10: 45,067,364	D12Y	possibly damaging	Het
Prg4	A	G	1: 150,452,350	F188S	probably damaging	Het
Ripor3	T	C	2: 167,997,287	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,068,314		probably null	Het
Rnf24	A	G	2: 131,322,245		probably benign	Het
Scn3a	A	G	2: 65,497,398	M916T	probably benign	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sh2b3	C	G	5: 121,829,021	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,649,694	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,727,028	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,356,525	E448V	probably damaging	Het
Slit1	C	A	19: 41,743,296	C38F	probably damaging	Het
Spock3	T	A	8: 63,355,300	N410K	unknown	Het
Supt20	G	T	3: 54,712,207	W370L	probably benign	Het
Tas2r139	T	A	6: 42,141,496	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,140,484	V111I	probably benign	Het
Thsd7b	T	A	1: 130,210,320	Y1578*	probably null	Het
Tln2	T	A	9: 67,229,403	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,671,367	V363I	probably damaging	Het
Ttc32	A	G	12: 9,035,870	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,435,565	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,855	T106I	probably damaging	Het
Zfp677	T	A	17: 21,398,258	C526S	probably damaging	Het
Zfp831	T	G	2: 174,643,627	S32A	probably benign	Het

Other mutations in Kcnn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Kcnn2	APN	18	45592236	missense	probably damaging	0.98
IGL00341:Kcnn2	APN	18	45677071	splice site	probably benign
IGL01317:Kcnn2	APN	18	45560627	splice site	probably null
IGL02121:Kcnn2	APN	18	45561273	missense	probably damaging	0.98
IGL02561:Kcnn2	APN	18	45592192	missense	possibly damaging	0.59
IGL03000:Kcnn2	APN	18	45560568	missense	probably damaging	0.97
IGL03116:Kcnn2	APN	18	45655206	missense	probably damaging	1.00
IGL03155:Kcnn2	APN	18	45685315	missense	probably damaging	0.99
IGL03289:Kcnn2	APN	18	45677044	missense	probably damaging	1.00
IGL03343:Kcnn2	APN	18	45676959	missense	probably damaging	0.97
jitter	UTSW	18	45561253	synonymous	silent
I2288:Kcnn2	UTSW	18	45675273	intron	probably benign
R0256:Kcnn2	UTSW	18	45592405	missense	probably damaging	0.98
R0310:Kcnn2	UTSW	18	45560518	missense	probably damaging	1.00
R0464:Kcnn2	UTSW	18	45560359	missense	probably damaging	0.99
R0468:Kcnn2	UTSW	18	45559471	missense	possibly damaging	0.96
R0485:Kcnn2	UTSW	18	45560148	missense	probably benign	0.06
R0722:Kcnn2	UTSW	18	45559476	missense	possibly damaging	0.73
R0898:Kcnn2	UTSW	18	45559476	missense	possibly damaging	0.73
R1567:Kcnn2	UTSW	18	45670334	splice site	probably null
R4543:Kcnn2	UTSW	18	45559648	missense	probably benign	0.00
R4720:Kcnn2	UTSW	18	45683120	missense	possibly damaging	0.78
R4732:Kcnn2	UTSW	18	45560349	missense	possibly damaging	0.94
R4733:Kcnn2	UTSW	18	45560349	missense	possibly damaging	0.94
R4801:Kcnn2	UTSW	18	45685267	splice site	probably benign
R4844:Kcnn2	UTSW	18	45683120	missense	possibly damaging	0.78
R4927:Kcnn2	UTSW	18	45559731	missense	probably benign	0.01
R5011:Kcnn2	UTSW	18	45685285	missense	possibly damaging	0.86
R5108:Kcnn2	UTSW	18	45592055	missense	probably damaging	0.99
R5805:Kcnn2	UTSW	18	45683131	missense	probably damaging	0.98
R5841:Kcnn2	UTSW	18	45559396	missense	probably benign
R5926:Kcnn2	UTSW	18	45685284	missense	probably benign	0.01
R6552:Kcnn2	UTSW	18	45560098	missense	probably benign	0.00
R6882:Kcnn2	UTSW	18	45559438	missense	possibly damaging	0.53
R6999:Kcnn2	UTSW	18	45592377	missense	probably damaging	0.99
R7324:Kcnn2	UTSW	18	45560071	missense	probably benign
R7509:Kcnn2	UTSW	18	45683120	missense	probably benign	0.32
R7667:Kcnn2	UTSW	18	45559438	missense	possibly damaging	0.53
R8064:Kcnn2	UTSW	18	45559359	start codon destroyed	probably benign	0.01
R8122:Kcnn2	UTSW	18	45676938	missense	probably damaging	0.99
R8730:Kcnn2	UTSW	18	45592072	missense	possibly damaging	0.75
R8768:Kcnn2	UTSW	18	45559435	missense	possibly damaging	0.53
R9183:Kcnn2	UTSW	18	45561312	missense	probably damaging	0.99
R9278:Kcnn2	UTSW	18	45592379	missense	probably damaging	0.96
R9597:Kcnn2	UTSW	18	45683082	missense	probably benign	0.16
R9773:Kcnn2	UTSW	18	45655298	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGAATTATACGTTCACATGGACAGC -3'
(R):5'- TTTCAAACCTCGGGCGCATC -3'

Sequencing Primer
(F):5'- TTCACATGGACAGCCCGGC -3'
(R):5'- TTTCACAAGCTCGGACAG -3'

Posted On

2017-02-15