Mutagenetix > Incidental Mutation

Incidental Mutation 'R9156:Kcnc3'

695372

Institutional Source

Beutler Lab

Gene Symbol

Kcnc3

Ensembl Gene

ENSMUSG00000062785

Gene Name

potassium voltage gated channel, Shaw-related subfamily, member 3

Synonyms

KShIIID, Kv3.3, Kcr2-3

MMRRC Submission

068974-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9156 (G1)

Quality Score

144.008

Status

Validated

Chromosome

Chromosomal Location

44240088-44254178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44240592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 95 (N95D)

Ref Sequence

ENSEMBL: ENSMUSP00000103539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002274] [ENSMUST00000107906] [ENSMUST00000107907] [ENSMUST00000207493] [ENSMUST00000208651] [ENSMUST00000209177]

AlphaFold

Q63959

Predicted Effect

probably benign
Transcript: ENSMUST00000002274

SMART Domains

Protein: ENSMUSP00000002274
Gene: ENSMUSG00000002204

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Asp	72	396	6.6e-109	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107906
AA Change: N95D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103539
Gene: ENSMUSG00000062785
AA Change: N95D

Domain	Start	End	E-Value	Type
Pfam:Potassium_chann	1	21	8e-9	PFAM
BTB	90	194	4.38e-12	SMART
low complexity region	211	243	N/A	INTRINSIC
low complexity region	251	267	N/A	INTRINSIC
Pfam:Ion_trans	290	551	4.1e-45	PFAM
Pfam:Ion_trans_2	451	544	8.2e-12	PFAM
low complexity region	578	605	N/A	INTRINSIC
low complexity region	622	650	N/A	INTRINSIC
low complexity region	730	746	N/A	INTRINSIC
low complexity region	750	767	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107907
AA Change: N95D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785
AA Change: N95D

Domain	Start	End	E-Value	Type
low complexity region	19	48	N/A	INTRINSIC
BTB	90	194	4.38e-12	SMART
low complexity region	211	243	N/A	INTRINSIC
low complexity region	251	267	N/A	INTRINSIC
Pfam:Ion_trans	351	539	1.5e-31	PFAM
Pfam:Ion_trans_2	450	544	2.4e-11	PFAM
low complexity region	578	605	N/A	INTRINSIC
low complexity region	622	650	N/A	INTRINSIC
low complexity region	729	745	N/A	INTRINSIC
low complexity region	749	766	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207493
AA Change: N95D

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000207497

Predicted Effect

probably damaging
Transcript: ENSMUST00000208651
AA Change: N95D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209177
AA Change: N95D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozgous null mice show no overt phenotype, though mutation of this locus in conjunction with mutations in another potassium channel results in alcohol hypersensitivty, increased locomotion, and spontaneous myoclonus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,647,957 (GRCm39)	L1150V	probably damaging	Het
AB124611	A	G	9: 21,455,989 (GRCm39)	D194G	possibly damaging	Het
Adgrv1	A	G	13: 81,669,302 (GRCm39)	L2418P	probably benign	Het
Ap3m1	A	G	14: 21,090,152 (GRCm39)	S213P	probably damaging	Het
Apobec2	A	T	17: 48,739,531 (GRCm39)	L36H		Het
Arrb1	A	G	7: 99,237,280 (GRCm39)	D78G		Het
Astn1	A	G	1: 158,338,555 (GRCm39)	Q434R	probably damaging	Het
Cadps	C	G	14: 12,705,676 (GRCm38)	D240H	probably damaging	Het
Cfhr4	A	G	1: 139,660,085 (GRCm39)	I680T	probably damaging	Het
Cmya5	A	C	13: 93,233,878 (GRCm39)	D403E	unknown	Het
Crxos	A	C	7: 15,631,436 (GRCm39)	I45L	probably benign	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah2	A	G	11: 69,313,687 (GRCm39)	I4204T		Het
Ei24	A	G	9: 36,697,327 (GRCm39)	S134P	probably damaging	Het
Eif2ak3	G	T	6: 70,860,614 (GRCm39)	V397F	probably damaging	Het
Eif4g2	T	C	7: 110,672,969 (GRCm39)	I134V		Het
Fam186a	A	G	15: 99,841,159 (GRCm39)	I1695T	possibly damaging	Het
Gcnt3	T	C	9: 69,941,939 (GRCm39)	M210V	probably damaging	Het
Gpatch8	A	G	11: 102,370,299 (GRCm39)	S1080P	probably benign	Het
Gtf3c1	A	G	7: 125,244,949 (GRCm39)	L1695P	possibly damaging	Het
Haus3	A	G	5: 34,324,994 (GRCm39)	F222L	probably damaging	Het
Kbtbd8	C	T	6: 95,099,825 (GRCm39)	Q445*	probably null	Het
Krt40	C	T	11: 99,430,693 (GRCm39)		probably null	Het
Lgi1	A	G	19: 38,289,746 (GRCm39)	T271A	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Map3k21	A	G	8: 126,665,463 (GRCm39)	T551A	possibly damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Mug1	C	A	6: 121,851,390 (GRCm39)	D762E	probably damaging	Het
Myo1e	A	T	9: 70,266,605 (GRCm39)	N615I	probably damaging	Het
Or4k36	T	C	2: 111,145,827 (GRCm39)	M1T	probably null	Het
Or51f23	T	C	7: 102,453,339 (GRCm39)	L218P	probably damaging	Het
Pld5	T	C	1: 175,803,104 (GRCm39)	E387G	possibly damaging	Het
Pld5	A	G	1: 175,902,003 (GRCm39)	V195A	probably benign	Het
Rad54l	T	C	4: 115,980,349 (GRCm39)		probably benign	Het
Rnf123	A	T	9: 107,940,227 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,331,574 (GRCm39)	E2262G		Het
Rp1	C	A	1: 4,234,161 (GRCm39)	V910L	unknown	Het
Rpp21	A	T	17: 36,568,407 (GRCm39)	C23S	probably benign	Het
Scn11a	T	C	9: 119,588,989 (GRCm39)	M1306V	possibly damaging	Het
Scn2b	C	T	9: 45,036,734 (GRCm39)	L81F	possibly damaging	Het
Sco2	T	C	15: 89,256,363 (GRCm39)	D97G	probably damaging	Het
Slc25a54	T	C	3: 109,001,548 (GRCm39)	V112A	probably benign	Het
Slc5a11	A	T	7: 122,864,492 (GRCm39)	K363*	probably null	Het
Smg1	G	T	7: 117,753,884 (GRCm39)	T2563K	unknown	Het
Snap47	A	T	11: 59,319,290 (GRCm39)	S283T	probably damaging	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Stat1	G	T	1: 52,178,388 (GRCm39)	R274L	probably damaging	Het
Stoml1	A	G	9: 58,164,409 (GRCm39)	T166A		Het
Svs5	G	T	2: 164,079,509 (GRCm39)	Q133K	probably benign	Het
Tas2r107	T	A	6: 131,636,422 (GRCm39)	H209L	probably benign	Het
Tmco3	T	A	8: 13,360,228 (GRCm39)	V477D	possibly damaging	Het
Tmem131	A	T	1: 36,880,767 (GRCm39)	S168T	possibly damaging	Het
Tmem41a	T	C	16: 21,755,859 (GRCm39)	N149S	probably damaging	Het
Ttll4	T	C	1: 74,719,225 (GRCm39)	F359L	probably benign	Het
Ttn	T	A	2: 76,785,162 (GRCm39)	M784L	unknown	Het
Ubr1	A	G	2: 120,703,603 (GRCm39)		probably null	Het
Ubxn2b	C	T	4: 6,214,646 (GRCm39)	P227S	probably damaging	Het
Upb1	C	T	10: 75,265,961 (GRCm39)	L263F	probably benign	Het
Usp15	T	A	10: 122,949,553 (GRCm39)	T935S	probably benign	Het
Zscan4-ps3	G	A	7: 11,347,164 (GRCm39)	C400Y	probably damaging	Het

Other mutations in Kcnc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Kcnc3	APN	7	44,244,810 (GRCm39)	missense	probably damaging	1.00
IGL01607:Kcnc3	APN	7	44,240,728 (GRCm39)	missense	probably damaging	1.00
IGL02397:Kcnc3	APN	7	44,245,218 (GRCm39)	missense	probably damaging	1.00
IGL02807:Kcnc3	APN	7	44,245,381 (GRCm39)	missense	probably damaging	1.00
IGL02961:Kcnc3	APN	7	44,240,916 (GRCm39)	missense	probably damaging	0.99
elfen	UTSW	7	44,240,720 (GRCm39)	frame shift	probably null
Le_fitness	UTSW	7	44,244,606 (GRCm39)	missense	possibly damaging	0.92
Svelte	UTSW	7	44,245,240 (GRCm39)	missense	probably damaging	1.00
Trim	UTSW	7	44,245,027 (GRCm39)	missense	probably damaging	1.00
R0514:Kcnc3	UTSW	7	44,245,352 (GRCm39)	nonsense	probably null
R0827:Kcnc3	UTSW	7	44,244,630 (GRCm39)	missense	probably damaging	0.99
R1514:Kcnc3	UTSW	7	44,245,027 (GRCm39)	missense	probably damaging	1.00
R2875:Kcnc3	UTSW	7	44,240,961 (GRCm39)	nonsense	probably null
R4597:Kcnc3	UTSW	7	44,245,240 (GRCm39)	missense	probably damaging	1.00
R4954:Kcnc3	UTSW	7	44,240,720 (GRCm39)	frame shift	probably null
R4955:Kcnc3	UTSW	7	44,240,720 (GRCm39)	frame shift	probably null
R6012:Kcnc3	UTSW	7	44,248,296 (GRCm39)	missense	probably benign	0.26
R6093:Kcnc3	UTSW	7	44,240,932 (GRCm39)	missense	probably benign	0.44
R6488:Kcnc3	UTSW	7	44,244,606 (GRCm39)	missense	possibly damaging	0.92
R7542:Kcnc3	UTSW	7	44,245,138 (GRCm39)	missense	possibly damaging	0.84
R7595:Kcnc3	UTSW	7	44,240,893 (GRCm39)	missense	probably damaging	1.00
R7909:Kcnc3	UTSW	7	44,245,111 (GRCm39)	missense	probably damaging	1.00
R7946:Kcnc3	UTSW	7	44,245,569 (GRCm39)	missense	probably benign	0.13
R8676:Kcnc3	UTSW	7	44,241,020 (GRCm39)	missense	probably benign	0.06
R9396:Kcnc3	UTSW	7	44,240,937 (GRCm39)	missense	possibly damaging	0.57
R9545:Kcnc3	UTSW	7	44,245,357 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnc3	UTSW	7	44,245,530 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAATGCTCAGTTCAGTGTG -3'
(R):5'- TTGAGCACGTAGGCGAAGAC -3'

Sequencing Primer
(F):5'- GCAAGCAGCAGCCTCAG -3'
(R):5'- GAAGACGCCCGGGTGAC -3'

Posted On

2022-01-20