Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:Kcnn2'

568789

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

045418-MU

Accession Numbers

Essential gene?

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

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45401927-45819091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45693138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 238 (H238L)

Ref Sequence

ENSEMBL: ENSMUSP00000067884 (fasta)

Gene Model

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

AlphaFold

P58390

Predicted Effect

probably benign
Transcript: ENSMUST00000066890
AA Change: H238L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: H238L

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

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 benign
Transcript: ENSMUST00000183850

SMART Domains

Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477

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

probably benign
Transcript: ENSMUST00000211323

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	C	17: 84,983,667 (GRCm39)	D124G	possibly damaging	Het
Ackr3	C	G	1: 90,141,923 (GRCm39)	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,136,151 (GRCm39)	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,222,032 (GRCm39)	T552K	possibly damaging	Het
Arhgap28	T	C	17: 68,202,879 (GRCm39)		probably null	Het
Arid5b	A	T	10: 67,964,752 (GRCm39)	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,707 (GRCm39)	K56N	probably benign	Het
C2	C	T	17: 35,100,664 (GRCm39)	G52D	probably benign	Het
Casz1	C	T	4: 149,031,490 (GRCm39)	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,797,552 (GRCm39)	D778G	unknown	Het
Cdh5	A	G	8: 104,869,425 (GRCm39)	D717G	probably damaging	Het
Clca3a2	G	A	3: 144,514,372 (GRCm39)	A445V	probably damaging	Het
Clca3b	T	A	3: 144,547,181 (GRCm39)	M319L	possibly damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 54,052,090 (GRCm39)	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,287,961 (GRCm39)	T381P	probably damaging	Het
Ddb2	G	A	2: 91,067,229 (GRCm39)		probably benign	Het
Ddx24	C	A	12: 103,382,518 (GRCm39)	L688F	probably damaging	Het
Dennd4c	T	C	4: 86,747,975 (GRCm39)	L1615P	unknown	Het
Dnah8	T	A	17: 31,003,099 (GRCm39)	D3599E	probably benign	Het
Dst	T	C	1: 34,045,305 (GRCm39)	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,800,555 (GRCm39)	D156G	probably benign	Het
Enpp2	A	G	15: 54,741,170 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,803 (GRCm39)	V490A	probably damaging	Het
Etnppl	A	G	3: 130,423,224 (GRCm39)	N308D	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,021,150 (GRCm39)		probably benign	Het
Fam162b	A	T	10: 51,466,282 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,353,362 (GRCm39)	E86G	probably damaging	Het
Flii	G	A	11: 60,609,866 (GRCm39)	T615I	probably benign	Het
Fndc7	G	T	3: 108,779,537 (GRCm39)	Q336K	probably benign	Het
Gm26661	T	C	14: 7,791,911 (GRCm38)	C109R	unknown	Het
H2-DMb1	T	C	17: 34,378,436 (GRCm39)		probably null	Het
H2-T10	C	T	17: 36,430,189 (GRCm39)	G251R	probably damaging	Het
Harbi1	T	C	2: 91,551,044 (GRCm39)	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,661,659 (GRCm39)	M119T	unknown	Het
Ighe	T	A	12: 113,235,954 (GRCm39)	Y124F		Het
Ighv7-1	T	C	12: 113,860,149 (GRCm39)	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,313,115 (GRCm39)		probably null	Het
Inpp5a	A	G	7: 139,105,586 (GRCm39)	D179G	probably damaging	Het
Itgad	A	T	7: 127,788,979 (GRCm39)	D510V	probably damaging	Het
Kctd17	T	A	15: 78,319,842 (GRCm39)	C189S	probably damaging	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Llgl2	A	G	11: 115,741,556 (GRCm39)	E562G	possibly damaging	Het
Macf1	T	C	4: 123,268,218 (GRCm39)	T6734A	probably benign	Het
Maz	G	A	7: 126,623,765 (GRCm39)	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,921,917 (GRCm39)	G125*	probably null	Het
Mvp	A	G	7: 126,592,781 (GRCm39)	S377P	probably benign	Het
Nin	C	T	12: 70,090,508 (GRCm39)	R969Q		Het
Nktr	C	T	9: 121,556,427 (GRCm39)	T35I	probably damaging	Het
Nktr	T	A	9: 121,577,357 (GRCm39)	M475K	possibly damaging	Het
Nod2	T	A	8: 89,379,694 (GRCm39)	V65D	probably damaging	Het
Opa1	A	T	16: 29,405,799 (GRCm39)	E121D	probably benign	Het
Or10w3	C	T	19: 13,704,270 (GRCm39)	A215V	probably benign	Het
Or1r1	A	G	11: 73,874,669 (GRCm39)	V255A	probably benign	Het
Or2n1c	T	C	17: 38,519,607 (GRCm39)	V157A	probably benign	Het
Or4a76	A	T	2: 89,460,447 (GRCm39)	I265N	possibly damaging	Het
Or5ac21	T	C	16: 59,123,611 (GRCm39)	F32L	probably benign	Het
Or5b123	A	G	19: 13,596,942 (GRCm39)	I96V	probably benign	Het
Or6c88	T	A	10: 129,406,718 (GRCm39)	S65T	probably damaging	Het
Or7e174	A	T	9: 20,012,726 (GRCm39)	I224F	possibly damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,061,600 (GRCm39)	D38V	possibly damaging	Het
Prtg	C	T	9: 72,798,122 (GRCm39)	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,595,621 (GRCm39)	V748G	possibly damaging	Het
Reg2	A	T	6: 78,383,137 (GRCm39)	D28V	probably benign	Het
Rhpn1	A	T	15: 75,576,246 (GRCm39)	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,290,799 (GRCm39)	E294G	possibly damaging	Het
Scara3	T	A	14: 66,168,865 (GRCm39)	I251L	probably benign	Het
Slc23a2	G	A	2: 131,931,043 (GRCm39)	T152I	probably damaging	Het
Slc39a2	T	G	14: 52,131,650 (GRCm39)	S74A	possibly damaging	Het
Tmprss15	T	C	16: 78,758,907 (GRCm39)	Y937C	probably damaging	Het
Tpp2	T	C	1: 44,017,938 (GRCm39)	L779S	probably damaging	Het
Tssk2	T	C	16: 17,717,227 (GRCm39)	V210A	possibly damaging	Het
Ttn	T	A	2: 76,725,937 (GRCm39)	T6100S	unknown	Het
Tufm	G	A	7: 126,088,759 (GRCm39)	E317K	possibly damaging	Het
Vinac1	T	C	2: 128,879,772 (GRCm39)	D718G	unknown	Het
Wdfy4	A	G	14: 32,769,271 (GRCm39)	S2219P		Het
Wtap	T	C	17: 13,199,833 (GRCm39)	N50S	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
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
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
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'- TCAATGTGAGCGAGCTGACG -3'
(R):5'- GCGCCAGGTTGTTAGAATTG -3'

Sequencing Primer
(F):5'- TGACGCCGTCCAGCCATG -3'
(R):5'- TTAGACACCACGATCTCCGGG -3'

Posted On

2019-09-13