Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Kcnt2'

405390

Institutional Source

Beutler Lab

Gene Symbol

Kcnt2

Ensembl Gene

ENSMUSG00000052726

Gene Name

potassium channel, subfamily T, member 2

Synonyms

E330038N15Rik

MMRRC Submission

042879-MU

Accession Numbers

Essential gene?

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

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140173896-140539805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140537353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1037 (P1037L)

Ref Sequence

ENSEMBL: ENSMUSP00000113535 (fasta)

Gene Model

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

AlphaFold

D3Z649

Predicted Effect

probably damaging
Transcript: ENSMUST00000119786
AA Change: P1037L

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

SMART Domains

Protein: ENSMUSP00000113535
Gene: ENSMUSG00000052726
AA Change: P1037L

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: P1080L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112887
Gene: ENSMUSG00000052726
AA Change: P1080L

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: P1104L

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

SMART Domains

Protein: ENSMUSP00000113333
Gene: ENSMUSG00000052726
AA Change: P1104L

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

noncoding transcript
Transcript: ENSMUST00000193820

Meta Mutation Damage Score

0.5328

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobr	A	C	7: 126,187,196 (GRCm39)	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,808,694 (GRCm39)		probably benign	Het
Cacna1s	G	A	1: 136,023,523 (GRCm39)	V674M	probably benign	Het
Cavin2	T	C	1: 51,329,029 (GRCm39)		probably null	Het
Cd300lb	T	C	11: 114,815,763 (GRCm39)	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,407,121 (GRCm39)	V132A	probably benign	Het
Ddi2	G	T	4: 141,412,076 (GRCm39)	Q279K	probably benign	Het
Dnah11	A	G	12: 117,847,151 (GRCm39)	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Epsti1	T	A	14: 78,142,090 (GRCm39)	H55Q	probably benign	Het
Flad1	T	C	3: 89,318,503 (GRCm39)	T17A	probably damaging	Het
Fzd2	C	T	11: 102,496,981 (GRCm39)	T475M	probably damaging	Het
Gemin5	C	A	11: 58,020,887 (GRCm39)	W1099L	probably damaging	Het
Gm9892	T	C	8: 52,649,964 (GRCm39)		noncoding transcript	Het
Gmeb2	A	G	2: 180,897,779 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,765,833 (GRCm39)	E55G	probably damaging	Het
Gvin-ps3	A	T	7: 105,681,055 (GRCm39)		noncoding transcript	Het
Hltf	T	C	3: 20,162,276 (GRCm39)	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,139,820 (GRCm39)	Q902L	probably null	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lama5	A	C	2: 179,835,594 (GRCm39)	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,701,567 (GRCm39)	S230A	probably benign	Het
Lmcd1	A	G	6: 112,292,549 (GRCm39)	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,751,445 (GRCm39)	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,590,961 (GRCm39)	I234N	probably damaging	Het
Mroh3	A	G	1: 136,124,061 (GRCm39)	S386P	probably damaging	Het
Mylk3	A	C	8: 86,082,060 (GRCm39)	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,786,032 (GRCm39)	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,555,745 (GRCm39)	S2G	unknown	Het
Olfr908	T	C	9: 38,427,412 (GRCm39)	F28S	probably damaging	Het
Or10z1	G	T	1: 174,078,322 (GRCm39)	T57K	possibly damaging	Het
Or2n1d	C	T	17: 38,646,347 (GRCm39)	Q100*	probably null	Het
Or4x6	A	T	2: 89,949,043 (GRCm39)	W300R	probably damaging	Het
Pkd1	T	C	17: 24,795,048 (GRCm39)	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,701,319 (GRCm39)	T1539I	possibly damaging	Het
Plch2	G	T	4: 155,074,456 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,434,609 (GRCm39)	R34H	probably damaging	Het
Rgs12	T	C	5: 35,178,448 (GRCm39)		probably benign	Het
Ruvbl1	T	C	6: 88,462,890 (GRCm39)	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,245,707 (GRCm39)	Q104L	probably damaging	Het
Satb2	T	C	1: 56,836,066 (GRCm39)	E575G	probably damaging	Het
Sema6b	T	A	17: 56,434,091 (GRCm39)		probably null	Het
Slc25a11	T	C	11: 70,537,011 (GRCm39)	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,737,845 (GRCm39)	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,564,444 (GRCm39)	T906K	possibly damaging	Het
Thbd	A	T	2: 148,248,903 (GRCm39)	C322S	probably damaging	Het
Traf2	A	G	2: 25,410,452 (GRCm39)	L399P	probably damaging	Het
Troap	T	A	15: 98,976,698 (GRCm39)	V274D	probably damaging	Het
Utrn	G	A	10: 12,277,099 (GRCm39)	T3406M	probably damaging	Het
Uts2	G	T	4: 151,083,508 (GRCm39)	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,774,603 (GRCm39)	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 84,786,230 (GRCm39)	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,559 (GRCm39)	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,553,981 (GRCm39)	M51K	probably damaging	Het
Zfp60	T	A	7: 27,437,955 (GRCm39)		probably benign	Het
Zfp882	T	A	8: 72,668,204 (GRCm39)	F344I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGCCTCAACACTGCGGT -3'
(R):5'- CTTAGGACTGTCTGCAACATTTT -3'

Sequencing Primer
(F):5'- ACCTCATTAGCGTGGAGAACTCTG -3'
(R):5'- TAATGATTTTAAGCAAGATCCCTGC -3'

Posted On

2016-07-22