Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01412:Kcnt2'

80084

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: 0.099) question?

Stock #

IGL01412

Quality Score

Status

Chromosome

Chromosomal Location

140173896-140539805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140498155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 884 (M884I)

Gene Model

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

AlphaFold

D3Z649

Predicted Effect

probably benign
Transcript: ENSMUST00000060201
AA Change: M884I

PolyPhen 2 Score 0.020 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054623
Gene: ENSMUSG00000052726
AA Change: M884I

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	424	533	1.3e-31	PFAM
low complexity region	655	670	N/A	INTRINSIC
low complexity region	677	689	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119786
AA Change: M803I

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

SMART Domains

Protein: ENSMUSP00000113535
Gene: ENSMUSG00000052726
AA Change: M803I

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: M853I

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

SMART Domains

Protein: ENSMUSP00000112887
Gene: ENSMUSG00000052726
AA Change: M853I

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: M877I

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

SMART Domains

Protein: ENSMUSP00000113333
Gene: ENSMUSG00000052726
AA Change: M877I

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	G	A	15: 12,815,958 (GRCm39)	Q222*	probably null	Het
Adamts2	A	G	11: 50,686,230 (GRCm39)	E1016G	probably benign	Het
Agmo	G	A	12: 37,452,140 (GRCm39)	E269K	possibly damaging	Het
Agrn	A	T	4: 156,255,491 (GRCm39)		probably benign	Het
Alpk1	A	T	3: 127,473,621 (GRCm39)	L794Q	possibly damaging	Het
Asb14	T	A	14: 26,637,022 (GRCm39)	L588H	probably damaging	Het
Btbd16	A	T	7: 130,407,549 (GRCm39)		probably null	Het
Cacna1h	T	C	17: 25,610,924 (GRCm39)	K625E	probably benign	Het
Cdh23	T	C	10: 60,150,473 (GRCm39)	D2499G	probably damaging	Het
Cdhr2	A	T	13: 54,873,707 (GRCm39)	D687V	probably damaging	Het
Cops8	G	T	1: 90,532,153 (GRCm39)	L45F	possibly damaging	Het
D130043K22Rik	A	G	13: 25,071,843 (GRCm39)	H929R	probably damaging	Het
Dnah12	A	G	14: 26,492,962 (GRCm39)	E1241G	probably damaging	Het
Dock4	T	A	12: 40,780,040 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,380,518 (GRCm39)	I8V	probably benign	Het
Dst	T	C	1: 34,281,701 (GRCm39)	V5435A	probably benign	Het
Fat4	A	G	3: 38,945,330 (GRCm39)	I1408V	probably benign	Het
Fhit	G	T	14: 9,870,065 (GRCm38)	H72N	probably damaging	Het
Foxp2	C	A	6: 15,376,757 (GRCm39)		probably benign	Het
Fpgt	T	C	3: 154,792,359 (GRCm39)	Q556R	probably benign	Het
Galntl6	T	A	8: 58,230,328 (GRCm39)	E30V	probably damaging	Het
Gemin4	A	T	11: 76,104,311 (GRCm39)	V150D	probably benign	Het
Grm8	C	T	6: 27,762,460 (GRCm39)	R255H	probably damaging	Het
Hapln3	G	A	7: 78,767,184 (GRCm39)		probably null	Het
Htt	T	A	5: 35,055,916 (GRCm39)	L2609Q	probably damaging	Het
Igdcc4	A	G	9: 65,021,731 (GRCm39)		probably benign	Het
Isx	T	C	8: 75,619,306 (GRCm39)	L166P	probably benign	Het
Leo1	A	G	9: 75,373,524 (GRCm39)	N650D	probably benign	Het
Man1a	A	G	10: 53,950,810 (GRCm39)	V195A	probably benign	Het
Map2k5	A	T	9: 63,200,988 (GRCm39)	I215N	probably damaging	Het
Mier2	A	G	10: 79,377,014 (GRCm39)	*542R	probably null	Het
Mrgbp	T	A	2: 180,225,209 (GRCm39)	F55Y	probably damaging	Het
Nadsyn1	A	T	7: 143,362,527 (GRCm39)		probably null	Het
Nedd9	A	T	13: 41,469,262 (GRCm39)	Y630*	probably null	Het
Nrp1	T	C	8: 129,145,188 (GRCm39)		probably benign	Het
Or4k15b	A	G	14: 50,272,770 (GRCm39)	I30T	probably benign	Het
Or51q1c	T	A	7: 103,652,842 (GRCm39)	M120K	probably damaging	Het
Or52z12	A	G	7: 103,234,114 (GRCm39)	N295S	probably damaging	Het
Or5w17	A	T	2: 87,583,461 (GRCm39)	L292Q	probably damaging	Het
Or7g21	T	A	9: 19,032,895 (GRCm39)	C212S	probably benign	Het
Pcnx1	A	T	12: 81,953,239 (GRCm39)	I127F	probably damaging	Het
Pik3ap1	T	C	19: 41,364,329 (GRCm39)	E130G	possibly damaging	Het
Pkd1l1	G	T	11: 8,900,409 (GRCm39)	T44N	possibly damaging	Het
Polr1c	A	G	17: 46,555,135 (GRCm39)	S226P	probably damaging	Het
Pramel28	A	C	4: 143,691,565 (GRCm39)	V386G	probably damaging	Het
Prep	A	G	10: 45,029,208 (GRCm39)	Y536C	probably damaging	Het
Ptprb	A	G	10: 116,179,820 (GRCm39)	T1413A	probably benign	Het
Pwwp3a	T	A	10: 80,070,163 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,756,922 (GRCm39)	K1577N	probably benign	Het
Selplg	G	T	5: 113,957,529 (GRCm39)	T33K	probably damaging	Het
Slc26a5	T	A	5: 22,020,734 (GRCm39)	I505L	probably damaging	Het
Slc39a6	T	C	18: 24,718,413 (GRCm39)	N548S	probably damaging	Het
Sp7	T	C	15: 102,267,798 (GRCm39)	T3A	possibly damaging	Het
Tango6	T	C	8: 107,545,131 (GRCm39)	V998A	probably benign	Het
Tas2r130	A	T	6: 131,607,473 (GRCm39)	Y107*	probably null	Het
Tjp2	T	C	19: 24,078,139 (GRCm39)	E918G	probably damaging	Het
Trim12a	C	T	7: 103,956,202 (GRCm39)	A113T	probably benign	Het
Zan	T	A	5: 137,391,294 (GRCm39)	D4730V	unknown	Het
Zfp607a	A	T	7: 27,578,109 (GRCm39)	D393V	probably damaging	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
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
IGL03024:Kcnt2	APN	1	140,498,193 (GRCm39)	missense	probably benign	0.00
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

2013-11-05