Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01780:Kcnt2'

154156

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 #

IGL01780

Quality Score

Status

Chromosome

Chromosomal Location

140173896-140539805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140279007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 53 (I53V)

Ref Sequence

ENSEMBL: ENSMUSP00000112887 (fasta)

Gene Model

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

AlphaFold

D3Z649

Predicted Effect

probably benign
Transcript: ENSMUST00000060201
AA Change: I53V

PolyPhen 2 Score 0.010 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054623
Gene: ENSMUSG00000052726
AA Change: I53V

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: I53V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113535
Gene: ENSMUSG00000052726
AA Change: I53V

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: I53V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112887
Gene: ENSMUSG00000052726
AA Change: I53V

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: I53V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113333
Gene: ENSMUSG00000052726
AA Change: I53V

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	G	8: 71,914,121 (GRCm39)	V169A	probably benign	Het
Aopep	A	G	13: 63,357,939 (GRCm39)	N648D	probably benign	Het
BC024139	C	A	15: 76,005,343 (GRCm39)	L506F	probably benign	Het
Bltp3a	T	C	17: 28,112,474 (GRCm39)	L1221P	probably damaging	Het
Cfap65	A	T	1: 74,967,507 (GRCm39)	C190*	probably null	Het
Cib2	A	T	9: 54,457,170 (GRCm39)	H31Q	probably damaging	Het
Emb	A	G	13: 117,386,007 (GRCm39)		probably benign	Het
Eml6	T	C	11: 29,755,175 (GRCm39)	M867V	probably benign	Het
Flnc	A	T	6: 29,438,492 (GRCm39)	K129*	probably null	Het
Gckr	C	A	5: 31,465,134 (GRCm39)	H368N	possibly damaging	Het
Gmds	A	T	13: 32,409,145 (GRCm39)	Y106*	probably null	Het
Homez	T	C	14: 55,095,355 (GRCm39)	T118A	probably damaging	Het
Kcnh7	G	A	2: 62,667,507 (GRCm39)	T344I	probably benign	Het
Krt13	A	T	11: 100,010,539 (GRCm39)	L207Q	probably damaging	Het
Lipo2	A	G	19: 33,708,348 (GRCm39)	L222P	possibly damaging	Het
Lrp2	A	C	2: 69,316,528 (GRCm39)	V2151G	possibly damaging	Het
Mrc2	A	G	11: 105,216,547 (GRCm39)	D112G	probably damaging	Het
Mrgpra6	T	C	7: 46,838,497 (GRCm39)	T234A	probably damaging	Het
Mroh2b	A	G	15: 4,941,482 (GRCm39)	N338S	probably benign	Het
Mrpl23	T	A	7: 142,089,802 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,741,073 (GRCm39)	N1442S	probably benign	Het
Nxn	A	G	11: 76,165,480 (GRCm39)		probably benign	Het
Or8w1	T	C	2: 87,465,424 (GRCm39)	I222M	possibly damaging	Het
Osmr	A	T	15: 6,858,144 (GRCm39)	N441K	probably benign	Het
Patl2	A	C	2: 121,952,327 (GRCm39)	S468R	probably damaging	Het
Pcdhb1	T	C	18: 37,399,575 (GRCm39)	S509P	probably damaging	Het
Pmp22	G	T	11: 63,049,134 (GRCm39)	V126F	probably benign	Het
Prom1	A	G	5: 44,186,946 (GRCm39)		probably benign	Het
Prss1	C	A	6: 41,440,139 (GRCm39)	Q159K	probably damaging	Het
Psd3	G	T	8: 68,416,521 (GRCm39)	H459N	probably benign	Het
Rasgrp1	A	G	2: 117,115,359 (GRCm39)	L743P	probably benign	Het
Rpusd4	G	A	9: 35,179,720 (GRCm39)	R71Q	probably damaging	Het
Rsf1	C	T	7: 97,313,977 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,318,725 (GRCm39)	T280A	possibly damaging	Het
Slc16a4	A	G	3: 107,210,415 (GRCm39)	I362V	probably benign	Het
Syt16	T	C	12: 74,313,616 (GRCm39)	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,559,735 (GRCm39)	V79A	possibly damaging	Het
Tenm2	A	G	11: 35,937,768 (GRCm39)	M1635T	probably benign	Het
Vmn1r195	A	G	13: 22,463,255 (GRCm39)	T242A	probably benign	Het
Zfp423	A	G	8: 88,508,136 (GRCm39)	V736A	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
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
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

2014-02-04