Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03024:Kcnt2'

408075

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnt2

Ensembl Gene

ENSMUSG00000052726

Gene Name

potassium channel, subfamily T, member 2

Synonyms

E330038N15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL03024

Quality Score

Status

Chromosome

Chromosomal Location

140173896-140539805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140498193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 866 (I866T)

Ref Sequence

ENSEMBL: ENSMUSP00000112887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119786] [ENSMUST00000120709] [ENSMUST00000120796]

AlphaFold

D3Z649

Predicted Effect

probably benign
Transcript: ENSMUST00000119786
AA Change: I816T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113535
Gene: ENSMUSG00000052726
AA Change: I816T

Domain	Start	End	E-Value	Type
transmembrane domain	64	83	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
Pfam:Ion_trans_2	199	282	2.6e-15	PFAM
Pfam:BK_channel_a	422	476	2.3e-16	PFAM
low complexity region	598	613	N/A	INTRINSIC
low complexity region	620	632	N/A	INTRINSIC
low complexity region	699	714	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120709
AA Change: I866T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112887
Gene: ENSMUSG00000052726
AA Change: I866T

Domain	Start	End	E-Value	Type
transmembrane domain	64	83	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
Pfam:Ion_trans_2	199	282	2.7e-15	PFAM
Pfam:BK_channel_a	422	527	1.5e-39	PFAM
low complexity region	648	663	N/A	INTRINSIC
low complexity region	670	682	N/A	INTRINSIC
low complexity region	749	764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120796
AA Change: I890T

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

SMART Domains

Protein: ENSMUSP00000113333
Gene: ENSMUSG00000052726
AA Change: I890T

Domain	Start	End	E-Value	Type
transmembrane domain	64	83	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
Pfam:Ion_trans_2	199	282	2.8e-15	PFAM
Pfam:BK_channel_a	422	527	1.5e-39	PFAM
low complexity region	648	663	N/A	INTRINSIC
low complexity region	670	682	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193820

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele are viable with normal pain and itch responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,212,464 (GRCm39)	F257L	probably benign	Het
Aaas	A	G	15: 102,258,926 (GRCm39)		probably benign	Het
AI661453	C	T	17: 47,757,513 (GRCm39)	R57W	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Bahd1	T	C	2: 118,746,597 (GRCm39)	V72A	probably damaging	Het
Bcl3	A	G	7: 19,543,059 (GRCm39)		probably benign	Het
Blnk	A	T	19: 40,982,445 (GRCm39)		probably benign	Het
Cd81	T	C	7: 142,621,089 (GRCm39)	I230T	probably benign	Het
Cdc20b	A	T	13: 113,227,576 (GRCm39)	R485S	possibly damaging	Het
Cenpp	C	A	13: 49,617,730 (GRCm39)	A273S	probably benign	Het
Cep295	A	G	9: 15,236,868 (GRCm39)	V2022A	probably benign	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cfap61	C	A	2: 145,781,919 (GRCm39)		probably benign	Het
Col8a1	T	A	16: 57,448,727 (GRCm39)	H261L	unknown	Het
Cyp2j5	A	T	4: 96,517,760 (GRCm39)	M484K	probably benign	Het
D930020B18Rik	T	C	10: 121,521,527 (GRCm39)		probably benign	Het
Dhdds	A	T	4: 133,710,160 (GRCm39)	L203Q	probably damaging	Het
Dusp6	A	G	10: 99,102,156 (GRCm39)	T381A	probably damaging	Het
Elp1	A	G	4: 56,774,686 (GRCm39)		probably null	Het
Fnbp4	A	G	2: 90,581,523 (GRCm39)	D192G	probably benign	Het
Gbp2	G	T	3: 142,337,780 (GRCm39)	V299F	probably damaging	Het
Gfpt1	G	T	6: 87,030,813 (GRCm39)	V66F	probably damaging	Het
Heatr1	T	C	13: 12,422,390 (GRCm39)		probably benign	Het
Irf8	T	A	8: 121,480,097 (GRCm39)	S112T	probably damaging	Het
Jmy	G	T	13: 93,635,707 (GRCm39)	N36K	probably damaging	Het
Kif1c	A	T	11: 70,596,015 (GRCm39)	M210L	probably damaging	Het
Kng1	G	A	16: 22,893,442 (GRCm39)	V272I	possibly damaging	Het
Lrig2	A	C	3: 104,401,389 (GRCm39)	M166R	probably damaging	Het
Mastl	A	G	2: 23,029,931 (GRCm39)	L265P	probably damaging	Het
Mmp27	A	G	9: 7,581,377 (GRCm39)	T547A	probably benign	Het
Myh4	T	C	11: 67,139,305 (GRCm39)	C541R	probably damaging	Het
Naip2	A	T	13: 100,325,862 (GRCm39)	F15L	possibly damaging	Het
Nipal1	G	T	5: 72,820,968 (GRCm39)		probably null	Het
Nrp2	A	T	1: 62,810,893 (GRCm39)	N645Y	probably damaging	Het
Or1j19	T	A	2: 36,676,858 (GRCm39)	F107Y	possibly damaging	Het
Or4g17	T	A	2: 111,209,935 (GRCm39)	F197I	possibly damaging	Het
Or7d9	T	A	9: 20,197,280 (GRCm39)	M103K	probably benign	Het
Plcl1	T	A	1: 55,734,946 (GRCm39)	S96T	probably damaging	Het
Prl2c1	A	C	13: 28,040,524 (GRCm39)	D139A	probably benign	Het
Prmt5	A	T	14: 54,754,055 (GRCm39)	M43K	possibly damaging	Het
Ptpn21	T	A	12: 98,646,315 (GRCm39)	M1048L	probably benign	Het
Ptprq	T	C	10: 107,521,427 (GRCm39)	E653G	possibly damaging	Het
Rbm6	A	G	9: 107,664,567 (GRCm39)	S689P	probably damaging	Het
Rtn3	A	G	19: 7,460,455 (GRCm39)		probably benign	Het
Shoc2	T	C	19: 53,991,458 (GRCm39)	I241T	probably benign	Het
Sipa1	A	T	19: 5,706,189 (GRCm39)	D380E	probably damaging	Het
Slc1a6	T	C	10: 78,650,442 (GRCm39)	V560A	probably benign	Het
Speer2	T	C	16: 69,655,003 (GRCm39)	H154R	possibly damaging	Het
Tlk1	A	T	2: 70,576,380 (GRCm39)	C247*	probably null	Het
Trim15	A	G	17: 37,177,785 (GRCm39)	L70P	probably damaging	Het
Ttc9b	T	C	7: 27,354,358 (GRCm39)	L148P	probably damaging	Het
Vwa8	C	T	14: 79,232,538 (GRCm39)	P627S	probably benign	Het

Other mutations in Kcnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Kcnt2	APN	1	140,450,836 (GRCm39)	missense	probably damaging	1.00
IGL00673:Kcnt2	APN	1	140,523,789 (GRCm39)	missense	possibly damaging	0.60
IGL00806:Kcnt2	APN	1	140,450,949 (GRCm39)	missense	probably damaging	1.00
IGL01135:Kcnt2	APN	1	140,282,293 (GRCm39)	critical splice donor site	probably null	0.00
IGL01412:Kcnt2	APN	1	140,498,155 (GRCm39)	missense	probably benign	0.02
IGL01777:Kcnt2	APN	1	140,523,736 (GRCm39)	missense	probably benign	0.20
IGL01780:Kcnt2	APN	1	140,279,007 (GRCm39)	missense	probably benign	0.09
IGL02134:Kcnt2	APN	1	140,304,121 (GRCm39)	missense	probably benign
IGL02350:Kcnt2	APN	1	140,279,007 (GRCm39)	missense	probably benign	0.09
IGL02357:Kcnt2	APN	1	140,279,007 (GRCm39)	missense	probably benign	0.09
IGL02481:Kcnt2	APN	1	140,282,299 (GRCm39)	splice site	probably benign
IGL02483:Kcnt2	APN	1	140,282,299 (GRCm39)	splice site	probably benign
IGL02866:Kcnt2	APN	1	140,352,986 (GRCm39)	missense	probably damaging	1.00
IGL02891:Kcnt2	APN	1	140,502,544 (GRCm39)	missense	probably damaging	1.00
IGL03007:Kcnt2	APN	1	140,282,245 (GRCm39)	missense	possibly damaging	0.50
IGL03231:Kcnt2	APN	1	140,461,740 (GRCm39)	intron	probably benign
BB002:Kcnt2	UTSW	1	140,282,247 (GRCm39)	nonsense	probably null
BB012:Kcnt2	UTSW	1	140,282,247 (GRCm39)	nonsense	probably null
R0230:Kcnt2	UTSW	1	140,174,083 (GRCm39)	missense	probably benign	0.00
R0367:Kcnt2	UTSW	1	140,278,963 (GRCm39)	missense	probably damaging	1.00
R0486:Kcnt2	UTSW	1	140,437,218 (GRCm39)	nonsense	probably null
R0543:Kcnt2	UTSW	1	140,537,352 (GRCm39)	missense	probably damaging	1.00
R0849:Kcnt2	UTSW	1	140,435,500 (GRCm39)	missense	probably damaging	1.00
R1123:Kcnt2	UTSW	1	140,501,346 (GRCm39)	missense	probably damaging	1.00
R1156:Kcnt2	UTSW	1	140,356,593 (GRCm39)	missense	probably damaging	1.00
R1425:Kcnt2	UTSW	1	140,310,766 (GRCm39)	missense	probably damaging	1.00
R1530:Kcnt2	UTSW	1	140,411,970 (GRCm39)	nonsense	probably null
R1546:Kcnt2	UTSW	1	140,359,116 (GRCm39)	missense	probably benign	0.01
R1728:Kcnt2	UTSW	1	140,282,285 (GRCm39)	missense	probably benign	0.00
R1729:Kcnt2	UTSW	1	140,282,285 (GRCm39)	missense	probably benign	0.00
R1730:Kcnt2	UTSW	1	140,282,285 (GRCm39)	missense	probably benign	0.00
R1739:Kcnt2	UTSW	1	140,282,285 (GRCm39)	missense	probably benign	0.00
R1762:Kcnt2	UTSW	1	140,282,285 (GRCm39)	missense	probably benign	0.00
R1783:Kcnt2	UTSW	1	140,282,285 (GRCm39)	missense	probably benign	0.00
R1784:Kcnt2	UTSW	1	140,282,285 (GRCm39)	missense	probably benign	0.00
R1785:Kcnt2	UTSW	1	140,282,285 (GRCm39)	missense	probably benign	0.00
R1862:Kcnt2	UTSW	1	140,353,068 (GRCm39)	missense	probably damaging	1.00
R1887:Kcnt2	UTSW	1	140,511,985 (GRCm39)	missense	probably damaging	0.99
R1889:Kcnt2	UTSW	1	140,512,031 (GRCm39)	missense	probably damaging	1.00
R1894:Kcnt2	UTSW	1	140,353,079 (GRCm39)	missense	probably damaging	1.00
R2005:Kcnt2	UTSW	1	140,480,756 (GRCm39)	missense	probably damaging	0.98
R2044:Kcnt2	UTSW	1	140,302,892 (GRCm39)	missense	probably benign	0.14
R2115:Kcnt2	UTSW	1	140,480,701 (GRCm39)	missense	probably damaging	1.00
R2135:Kcnt2	UTSW	1	140,356,551 (GRCm39)	missense	probably damaging	1.00
R2201:Kcnt2	UTSW	1	140,437,179 (GRCm39)	missense	probably damaging	1.00
R2212:Kcnt2	UTSW	1	140,458,538 (GRCm39)	missense	probably damaging	1.00
R2267:Kcnt2	UTSW	1	140,501,421 (GRCm39)	splice site	probably null
R2442:Kcnt2	UTSW	1	140,304,091 (GRCm39)	missense	possibly damaging	0.59
R3121:Kcnt2	UTSW	1	140,356,622 (GRCm39)	missense	probably damaging	0.97
R3176:Kcnt2	UTSW	1	140,537,377 (GRCm39)	missense	probably benign	0.16
R3276:Kcnt2	UTSW	1	140,537,377 (GRCm39)	missense	probably benign	0.16
R3704:Kcnt2	UTSW	1	140,461,706 (GRCm39)	missense	probably damaging	1.00
R3944:Kcnt2	UTSW	1	140,512,025 (GRCm39)	missense	probably damaging	1.00
R4164:Kcnt2	UTSW	1	140,537,368 (GRCm39)	missense	probably damaging	0.97
R4201:Kcnt2	UTSW	1	140,353,070 (GRCm39)	missense	probably damaging	0.98
R4501:Kcnt2	UTSW	1	140,480,718 (GRCm39)	missense	probably damaging	0.99
R4502:Kcnt2	UTSW	1	140,435,485 (GRCm39)	missense	probably damaging	0.99
R4632:Kcnt2	UTSW	1	140,450,886 (GRCm39)	missense	possibly damaging	0.90
R4758:Kcnt2	UTSW	1	140,446,635 (GRCm39)	missense	probably damaging	1.00
R4790:Kcnt2	UTSW	1	140,282,254 (GRCm39)	missense	probably damaging	0.99
R4892:Kcnt2	UTSW	1	140,440,763 (GRCm39)	nonsense	probably null
R4973:Kcnt2	UTSW	1	140,537,388 (GRCm39)	missense	probably damaging	1.00
R5154:Kcnt2	UTSW	1	140,278,994 (GRCm39)	missense	possibly damaging	0.94
R5296:Kcnt2	UTSW	1	140,537,353 (GRCm39)	missense	probably damaging	1.00
R5353:Kcnt2	UTSW	1	140,354,639 (GRCm39)	missense	probably damaging	1.00
R5605:Kcnt2	UTSW	1	140,502,481 (GRCm39)	missense	possibly damaging	0.59
R5806:Kcnt2	UTSW	1	140,437,234 (GRCm39)	missense	probably damaging	1.00
R5887:Kcnt2	UTSW	1	140,353,104 (GRCm39)	missense	probably damaging	1.00
R5917:Kcnt2	UTSW	1	140,461,666 (GRCm39)	missense	probably damaging	0.99
R5961:Kcnt2	UTSW	1	140,435,440 (GRCm39)	missense	possibly damaging	0.82
R6123:Kcnt2	UTSW	1	140,290,718 (GRCm39)	missense	probably damaging	1.00
R6225:Kcnt2	UTSW	1	140,354,661 (GRCm39)	nonsense	probably null
R6248:Kcnt2	UTSW	1	140,437,216 (GRCm39)	missense	probably damaging	1.00
R6351:Kcnt2	UTSW	1	140,302,850 (GRCm39)	missense	probably damaging	1.00
R6380:Kcnt2	UTSW	1	140,437,322 (GRCm39)	missense	probably damaging	1.00
R6532:Kcnt2	UTSW	1	140,511,844 (GRCm39)	missense	probably damaging	0.97
R6693:Kcnt2	UTSW	1	140,278,965 (GRCm39)	missense	probably benign	0.00
R6817:Kcnt2	UTSW	1	140,173,931 (GRCm39)	unclassified	probably benign
R6856:Kcnt2	UTSW	1	140,523,742 (GRCm39)	missense	probably damaging	1.00
R6944:Kcnt2	UTSW	1	140,511,803 (GRCm39)	missense	probably benign	0.00
R6971:Kcnt2	UTSW	1	140,440,646 (GRCm39)	missense	probably benign	0.01
R7052:Kcnt2	UTSW	1	140,310,785 (GRCm39)	missense	probably damaging	0.99
R7138:Kcnt2	UTSW	1	140,523,778 (GRCm39)	missense	possibly damaging	0.80
R7261:Kcnt2	UTSW	1	140,282,255 (GRCm39)	missense	possibly damaging	0.71
R7474:Kcnt2	UTSW	1	140,498,216 (GRCm39)	missense	possibly damaging	0.84
R7524:Kcnt2	UTSW	1	140,511,793 (GRCm39)	missense	probably damaging	0.99
R7541:Kcnt2	UTSW	1	140,304,122 (GRCm39)	missense	probably benign	0.09
R7558:Kcnt2	UTSW	1	140,450,928 (GRCm39)	missense	probably damaging	0.98
R7651:Kcnt2	UTSW	1	140,498,199 (GRCm39)	missense	probably benign	0.40
R7730:Kcnt2	UTSW	1	140,446,686 (GRCm39)	missense	probably benign	0.34
R7875:Kcnt2	UTSW	1	140,501,385 (GRCm39)	missense	probably damaging	1.00
R7883:Kcnt2	UTSW	1	140,450,888 (GRCm39)	missense	probably damaging	0.99
R7925:Kcnt2	UTSW	1	140,282,247 (GRCm39)	nonsense	probably null
R8040:Kcnt2	UTSW	1	140,377,955 (GRCm39)	missense	probably damaging	1.00
R8041:Kcnt2	UTSW	1	140,537,398 (GRCm39)	missense	probably benign
R8171:Kcnt2	UTSW	1	140,437,203 (GRCm39)	missense	probably benign	0.13
R8268:Kcnt2	UTSW	1	140,450,954 (GRCm39)	missense	probably damaging	0.99
R8905:Kcnt2	UTSW	1	140,435,467 (GRCm39)	missense	possibly damaging	0.65
R8927:Kcnt2	UTSW	1	140,356,535 (GRCm39)	splice site	probably null
R8988:Kcnt2	UTSW	1	140,356,587 (GRCm39)	missense	probably benign	0.38
R9020:Kcnt2	UTSW	1	140,512,049 (GRCm39)	missense	probably benign	0.23
R9109:Kcnt2	UTSW	1	140,353,035 (GRCm39)	missense	probably damaging	1.00
R9167:Kcnt2	UTSW	1	140,506,200 (GRCm39)	missense	probably benign	0.11
R9232:Kcnt2	UTSW	1	140,411,931 (GRCm39)	missense	possibly damaging	0.56
R9297:Kcnt2	UTSW	1	140,352,933 (GRCm39)	missense	probably damaging	0.99
R9298:Kcnt2	UTSW	1	140,353,035 (GRCm39)	missense	probably damaging	1.00
R9318:Kcnt2	UTSW	1	140,352,933 (GRCm39)	missense	probably damaging	0.99
R9404:Kcnt2	UTSW	1	140,353,107 (GRCm39)	missense	probably damaging	1.00
X0062:Kcnt2	UTSW	1	140,440,729 (GRCm39)	missense	possibly damaging	0.50
Z1088:Kcnt2	UTSW	1	140,511,896 (GRCm39)	nonsense	probably null
Z1088:Kcnt2	UTSW	1	140,501,384 (GRCm39)	missense	probably damaging	1.00
Z1176:Kcnt2	UTSW	1	140,304,099 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnt2	UTSW	1	140,537,386 (GRCm39)	missense	possibly damaging	0.75

Posted On

2016-08-02