Mutagenetix > Incidental Mutation

Incidental Mutation 'R5108:Kcnn2'

393699

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

042696-MU

Accession Numbers

Essential gene?

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

Stock #

R5108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45401927-45819091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45725122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 471 (Y471F)

Ref Sequence

ENSEMBL: ENSMUSP00000067884 (fasta)

Gene Model

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

AlphaFold

P58390

Predicted Effect

probably damaging
Transcript: ENSMUST00000066890
AA Change: Y471F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: Y471F

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: Y206F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: Y206F

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: Y206F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.1465

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (79/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,094,207 (GRCm39)	N94Y	probably damaging	Het
Ak2	A	G	4: 128,896,034 (GRCm39)	T104A	probably damaging	Het
Alox12b	G	T	11: 69,048,208 (GRCm39)	A46S	probably benign	Het
Ank1	G	T	8: 23,622,571 (GRCm39)	V1662F	probably benign	Het
Anxa3	T	C	5: 96,978,273 (GRCm39)	I219T	possibly damaging	Het
Aoc1l3	C	T	6: 48,965,504 (GRCm39)	T504I	probably damaging	Het
Arhgap40	G	A	2: 158,389,599 (GRCm39)	V588M	probably damaging	Het
Arhgef38	T	C	3: 132,843,029 (GRCm39)	T514A	probably benign	Het
Ascl4	C	A	10: 85,764,422 (GRCm39)	A23E	probably benign	Het
Bcl11b	T	C	12: 107,931,985 (GRCm39)	T196A	probably benign	Het
C1ra	A	T	6: 124,499,881 (GRCm39)	Y689F	probably damaging	Het
Ccr3	A	G	9: 123,828,968 (GRCm39)	N101S	probably benign	Het
Cep70	A	T	9: 99,145,865 (GRCm39)		probably null	Het
Ces1b	A	G	8: 93,798,541 (GRCm39)	V215A	probably damaging	Het
Cndp1	A	T	18: 84,650,186 (GRCm39)	I169N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo2	A	G	4: 148,250,486 (GRCm39)	Q275R	probably damaging	Het
Fbxo44	T	C	4: 148,243,020 (GRCm39)	N133S	probably damaging	Het
Fzr1	C	T	10: 81,205,284 (GRCm39)		probably benign	Het
Grn	T	C	11: 102,325,228 (GRCm39)	S213P	probably benign	Het
Ifi203	A	T	1: 173,751,580 (GRCm39)	C414S	probably damaging	Het
Igfn1	C	T	1: 135,910,179 (GRCm39)	R135H	probably benign	Het
Kcnk10	T	C	12: 98,401,560 (GRCm39)	M358V	probably benign	Het
Klhl20	A	T	1: 160,926,820 (GRCm39)	V391E	probably damaging	Het
Krt1c	C	T	15: 101,721,721 (GRCm39)	G440D	possibly damaging	Het
Lpin1	A	T	12: 16,623,716 (GRCm39)	Y223N	probably benign	Het
Luzp2	G	A	7: 54,915,038 (GRCm39)	C321Y	probably damaging	Het
Mcm3ap	T	C	10: 76,338,536 (GRCm39)	V1388A	probably benign	Het
Mdga2	A	T	12: 66,533,515 (GRCm39)	H223Q	probably benign	Het
Mgat4e	G	T	1: 134,468,961 (GRCm39)	P361Q	probably benign	Het
Mylk3	A	T	8: 86,085,721 (GRCm39)	I208N	possibly damaging	Het
Myom2	T	A	8: 15,182,667 (GRCm39)	V1368E	probably damaging	Het
Mypn	C	T	10: 62,972,073 (GRCm39)	D656N	probably damaging	Het
Nat10	C	A	2: 103,562,548 (GRCm39)	R596L	probably damaging	Het
Nek8	T	C	11: 78,063,353 (GRCm39)	D137G	probably damaging	Het
Neurl1a	A	G	19: 47,246,074 (GRCm39)	K552E	probably damaging	Het
Npdc1	C	T	2: 25,298,667 (GRCm39)	H260Y	probably damaging	Het
Nuggc	A	T	14: 65,876,129 (GRCm39)	I581F	probably damaging	Het
Or8d23	T	A	9: 38,842,151 (GRCm39)	I228N	probably damaging	Het
P2rx6	T	C	16: 17,380,037 (GRCm39)	Y54H	probably damaging	Het
Pcmtd2	A	G	2: 181,486,216 (GRCm39)	E112G	probably damaging	Het
Pcnx4	G	A	12: 72,620,855 (GRCm39)	V892I	probably benign	Het
Pdss1	T	A	2: 22,796,895 (GRCm39)	V136E	possibly damaging	Het
Pias3	T	C	3: 96,612,253 (GRCm39)	L561P	possibly damaging	Het
Pomgnt1	G	A	4: 116,013,453 (GRCm39)		probably benign	Het
Scn2a	C	T	2: 65,518,974 (GRCm39)	T400I	probably damaging	Het
Sec24d	T	A	3: 123,099,434 (GRCm39)		probably null	Het
Sftpb	T	G	6: 72,281,640 (GRCm39)	L11R	probably damaging	Het
Slc22a19	A	G	19: 7,688,536 (GRCm39)	I8T	probably benign	Het
Slc22a30	A	G	19: 8,363,790 (GRCm39)	S266P	probably damaging	Het
Slc36a2	C	A	11: 55,050,214 (GRCm39)	G465W	probably damaging	Het
Slc4a2	G	A	5: 24,644,331 (GRCm39)	M976I	probably damaging	Het
Smcr8	C	T	11: 60,670,696 (GRCm39)	Q615*	probably null	Het
Sobp	T	C	10: 43,036,815 (GRCm39)	E41G	probably damaging	Het
Spopfm1	C	T	3: 94,173,142 (GRCm39)	S50L	probably damaging	Het
Spz1	A	T	13: 92,711,554 (GRCm39)	C307*	probably null	Het
Sult1d1	C	T	5: 87,711,728 (GRCm39)		probably null	Het
Tas2r110	T	C	6: 132,845,668 (GRCm39)	M233T	probably damaging	Het
Tmc3	C	A	7: 83,269,156 (GRCm39)	S781R	probably damaging	Het
Tmem234	G	T	4: 129,495,730 (GRCm39)		probably benign	Het
Trpm3	A	T	19: 22,882,078 (GRCm39)	Q645L	probably benign	Het
Ttn	C	A	2: 76,565,055 (GRCm39)	V28391F	probably damaging	Het
Txnrd3	G	T	6: 89,650,016 (GRCm39)	A425S	probably benign	Het
Ubr1	C	T	2: 120,793,903 (GRCm39)	G94R	probably benign	Het
Ufl1	A	G	4: 25,269,026 (GRCm39)		probably null	Het
Utp20	T	C	10: 88,604,735 (GRCm39)	D1720G	probably benign	Het
Vmn1r13	T	A	6: 57,186,901 (GRCm39)	M20K	probably benign	Het
Vmn1r61	A	G	7: 5,613,519 (GRCm39)	I265T	probably benign	Het
Zfp120	T	C	2: 149,961,862 (GRCm39)	T29A	probably 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
R4720:Kcnn2	UTSW	18	45,816,187 (GRCm39)	missense	possibly damaging	0.78
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
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'- CTAGACTTTGCACACTGTAAGC -3'
(R):5'- AGGCATCGGTGAAAAGTTTGC -3'

Sequencing Primer
(F):5'- TGCACACTGTAAGCGTTAGGC -3'
(R):5'- TAGCATGACTCTGGCAATCAG -3'

Posted On

2016-06-15