Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00087:Kcnn2'

306479

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

45268860-45686024 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45592236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 266 (R266S)

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: R531S

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

SMART Domains

Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: R531S

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: R266S

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

SMART Domains

Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: R266S

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: R266S

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

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,679,633		probably benign	Het
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Actr2	C	A	11: 20,094,370	V79L	probably benign	Het
Ankrd36	A	C	11: 5,620,131	Y533S	probably benign	Het
Btnl1	A	T	17: 34,381,117	D198V	probably damaging	Het
Carmil2	T	A	8: 105,691,406	I684N	probably benign	Het
Ccdc129	T	A	6: 55,968,037	L581Q	possibly damaging	Het
Cdk17	T	A	10: 93,226,771	V257D	probably damaging	Het
Ctsj	T	G	13: 61,001,418	S271R	possibly damaging	Het
Cul9	T	A	17: 46,525,709	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,942,219	S131I	unknown	Het
Dab1	G	A	4: 104,678,810	V139M	probably damaging	Het
Dab1	A	T	4: 104,678,753	I120F	possibly damaging	Het
Dnah2	A	G	11: 69,492,672	V1142A	possibly damaging	Het
Dsg1b	C	T	18: 20,396,476	T326I	probably damaging	Het
Eif3k	A	C	7: 28,974,676		probably benign	Het
Fam76b	T	C	9: 13,836,884	V3A	possibly damaging	Het
Fitm2	A	G	2: 163,469,792	V167A	probably benign	Het
Gfap	T	A	11: 102,888,718	I418F	possibly damaging	Het
Gm8857	C	T	5: 10,947,838		probably benign	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Itpr2	A	G	6: 146,397,012	I317T	probably damaging	Het
Kntc1	T	A	5: 123,790,159	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,904,037	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pax9	A	G	12: 56,700,075	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,697,518	S108P	possibly damaging	Het
Pitpnc1	T	C	11: 107,212,643	E210G	possibly damaging	Het
Prdm10	T	C	9: 31,360,812		probably benign	Het
Prl4a1	G	A	13: 28,021,460	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,874,294	S255G	probably benign	Het
Rimbp3	T	G	16: 17,209,743	S344A	probably benign	Het
Rint1	A	G	5: 23,794,431	T73A	probably benign	Het
Rnf145	T	C	11: 44,555,212	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,454,507	L221*	probably null	Het
Scn11a	A	G	9: 119,770,506	L1114P	probably benign	Het
Slc44a4	A	G	17: 34,930,240		probably benign	Het
Sorl1	A	C	9: 41,974,094	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,580,941		probably benign	Het
Srsf6	G	T	2: 162,931,707	V13F	probably damaging	Het
Stab1	G	T	14: 31,161,357	T336N	probably benign	Het
Strbp	A	G	2: 37,586,504		probably benign	Het
Tbc1d4	A	G	14: 101,608,112	F117L	probably damaging	Het
Tcf20	A	G	15: 82,854,895	V785A	probably damaging	Het
Ticrr	A	G	7: 79,677,283	K580E	probably damaging	Het
Ubr4	A	T	4: 139,465,322	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,259,669	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,853,171	F7S	probably benign	Het
Zan	C	T	5: 137,387,820		probably null	Het
Zfp819	T	A	7: 43,611,979		probably benign	Het

Other mutations in Kcnn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5888:Kcnn2	UTSW	18	45592345	missense	probably damaging	0.98
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

Posted On

2015-04-16