Mutagenetix > Incidental Mutation

Incidental Mutation 'R6856:Kcnt2'

535231

Institutional Source

Beutler Lab

Gene Symbol

Kcnt2

Ensembl Gene

ENSMUSG00000052726

Gene Name

potassium channel, subfamily T, member 2

Synonyms

E330038N15Rik

MMRRC Submission

044958-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140173896-140539805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140523742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1057 (S1057P)

Ref Sequence

ENSEMBL: ENSMUSP00000112887 (fasta)

Gene Model

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

AlphaFold

D3Z649

Predicted Effect

probably damaging
Transcript: ENSMUST00000119786
AA Change: S1014P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113535
Gene: ENSMUSG00000052726
AA Change: S1014P

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 damaging
Transcript: ENSMUST00000120709
AA Change: S1057P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112887
Gene: ENSMUSG00000052726
AA Change: S1057P

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 damaging
Transcript: ENSMUST00000120796
AA Change: S1081P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113333
Gene: ENSMUSG00000052726
AA Change: S1081P

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,205,755 (GRCm39)	M156V	probably benign	Het
Aire	A	T	10: 77,866,089 (GRCm39)	F546I	probably damaging	Het
Ankk1	T	C	9: 49,331,320 (GRCm39)	E230G	probably benign	Het
Anp32a	A	T	9: 62,279,397 (GRCm39)	K86N	possibly damaging	Het
Aqp4	T	C	18: 15,532,953 (GRCm39)	I47V	possibly damaging	Het
Arap3	A	G	18: 38,112,916 (GRCm39)	V1098A	possibly damaging	Het
Ascc3	T	A	10: 50,625,158 (GRCm39)	W1652R	probably damaging	Het
Atad2	T	A	15: 57,970,209 (GRCm39)	H464L	probably damaging	Het
Brca2	C	A	5: 150,463,673 (GRCm39)	H1146N	possibly damaging	Het
Capn9	G	A	8: 125,324,308 (GRCm39)	V203M	probably damaging	Het
Ccr6	T	A	17: 8,474,881 (GRCm39)	S29T	probably benign	Het
Cfap99	G	T	5: 34,467,561 (GRCm39)		probably null	Het
Cpt1c	C	T	7: 44,609,342 (GRCm39)	G716S	probably damaging	Het
Dhx29	A	T	13: 113,089,395 (GRCm39)	Q722L	probably benign	Het
Dmxl1	C	T	18: 49,985,355 (GRCm39)	R201*	probably null	Het
Dsg2	G	A	18: 20,734,859 (GRCm39)	G946S	probably damaging	Het
Erg	C	A	16: 95,169,510 (GRCm39)		probably null	Het
Fbxo32	G	A	15: 58,078,037 (GRCm39)		probably benign	Het
Gask1b	G	T	3: 79,793,448 (GRCm39)		probably benign	Het
Glis1	T	G	4: 107,293,076 (GRCm39)	D66E	probably damaging	Het
Grm6	A	T	11: 50,750,652 (GRCm39)	N605I	probably damaging	Het
Gtf3c6	T	C	10: 40,125,668 (GRCm39)	E183G	probably benign	Het
Herc1	A	G	9: 66,305,180 (GRCm39)	M861V	probably benign	Het
Igkv12-41	A	T	6: 69,835,513 (GRCm39)	S80T	probably damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Krt36	T	G	11: 99,994,216 (GRCm39)	Q287P	probably damaging	Het
Ldhd	A	G	8: 112,356,906 (GRCm39)	S13P	probably benign	Het
Lmtk3	T	A	7: 45,443,721 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,343,612 (GRCm39)	F916I	probably damaging	Het
Map4k1	A	T	7: 28,686,259 (GRCm39)	I92F	probably damaging	Het
Naa25	A	T	5: 121,576,867 (GRCm39)	K872M	probably damaging	Het
Nek3	C	A	8: 22,619,463 (GRCm39)	G443V	probably damaging	Het
Noxred1	T	C	12: 87,273,810 (GRCm39)	E77G	probably benign	Het
Nup210	G	A	6: 91,064,895 (GRCm39)	Q202*	probably null	Het
Or52d1	A	T	7: 103,755,998 (GRCm39)	M171L	probably benign	Het
Or8k27	G	T	2: 86,276,251 (GRCm39)	S25Y	probably benign	Het
Pax3	A	G	1: 78,109,056 (GRCm39)	S201P	probably damaging	Het
Pcdhgb5	T	A	18: 37,866,457 (GRCm39)	Y751N	probably benign	Het
Pign	A	T	1: 105,481,620 (GRCm39)	L792*	probably null	Het
Pkd1	T	C	17: 24,792,467 (GRCm39)	F1385L	probably benign	Het
Plxnb2	A	C	15: 89,048,523 (GRCm39)	C629G	probably benign	Het
Prpsap2	A	T	11: 61,621,097 (GRCm39)	I328N	probably benign	Het
Prrc2c	A	G	1: 162,509,940 (GRCm39)	L2317P	probably damaging	Het
Ptgfrn	T	C	3: 100,952,762 (GRCm39)	D824G	probably damaging	Het
Ptpra	G	A	2: 130,361,301 (GRCm39)	S204N	probably damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rap1a	A	G	3: 105,639,384 (GRCm39)	F92L	probably damaging	Het
Slmap	A	T	14: 26,151,247 (GRCm39)		probably null	Het
Spdye4c	A	G	2: 128,438,050 (GRCm39)		probably null	Het
Speer4a3	A	G	5: 26,155,843 (GRCm39)	I167T	probably benign	Het
Stk11	C	A	10: 79,963,924 (GRCm39)	F97L	probably benign	Het
Tbc1d9b	G	A	11: 50,059,573 (GRCm39)	A992T	probably benign	Het
Tmem232	G	A	17: 65,757,305 (GRCm39)	T296M	possibly damaging	Het
Trim33	C	T	3: 103,259,365 (GRCm39)	T1018M	probably damaging	Het
Trpv2	A	C	11: 62,475,441 (GRCm39)	I285L	probably benign	Het
Usp46	A	G	5: 74,189,595 (GRCm39)		probably benign	Het
Vmn1r27	T	A	6: 58,192,432 (GRCm39)	M191L	possibly damaging	Het
Vwf	G	T	6: 125,619,113 (GRCm39)	E1264*	probably null	Het
Zfp109	A	T	7: 23,928,823 (GRCm39)	N195K	probably benign	Het
Zfp385b	T	A	2: 77,246,138 (GRCm39)	L208F	probably damaging	Het
Zfp839	T	A	12: 110,833,195 (GRCm39)	Y515*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTTCAGGAGAGATTGTAACTATGG -3'
(R):5'- GCATTTTCTAAGCATGCTCATCG -3'

Sequencing Primer
(F):5'- ACTTCACAGAGATTTACAAAAGCAG -3'
(R):5'- TCTAAGCATGCTCATCGTGAAAAC -3'

Posted On

2018-09-12