Mutagenetix > Incidental Mutation

Incidental Mutation 'R8254:Kctd2'

640661

Institutional Source

Beutler Lab

Gene Symbol

Kctd2

Ensembl Gene

ENSMUSG00000016940

Gene Name

potassium channel tetramerisation domain containing 2

Synonyms

2310012I15Rik

MMRRC Submission

067680-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

R8254 (G1)

Quality Score

136.008

Status

Not validated

Chromosome

Chromosomal Location

115310954-115322100 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115311174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 61 (P61S)

Ref Sequence

ENSEMBL: ENSMUSP00000102143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043931] [ENSMUST00000073791] [ENSMUST00000103035] [ENSMUST00000106533] [ENSMUST00000106537] [ENSMUST00000137754] [ENSMUST00000180072]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043931

SMART Domains

Protein: ENSMUSP00000046256
Gene: ENSMUSG00000034566

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	2	161	2.7e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073791

SMART Domains

Protein: ENSMUSP00000086072
Gene: ENSMUSG00000034566

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	2	161	2.7e-77	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000103035
AA Change: P61S

SMART Domains

Protein: ENSMUSP00000099324
Gene: ENSMUSG00000016940
AA Change: P61S

Domain	Start	End	E-Value	Type
low complexity region	8	43	N/A	INTRINSIC
low complexity region	46	71	N/A	INTRINSIC
BTB	72	175	3.45e-19	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000106533
AA Change: P61S

SMART Domains

Protein: ENSMUSP00000102143
Gene: ENSMUSG00000016940
AA Change: P61S

Domain	Start	End	E-Value	Type
low complexity region	8	43	N/A	INTRINSIC
low complexity region	46	71	N/A	INTRINSIC
BTB	72	175	3.45e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106537

SMART Domains

Protein: ENSMUSP00000102147
Gene: ENSMUSG00000034566

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	3	160	5.6e-71	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115862
Gene: ENSMUSG00000016940
AA Change: P56S

Domain	Start	End	E-Value	Type
low complexity region	4	39	N/A	INTRINSIC
low complexity region	42	67	N/A	INTRINSIC
BTB	68	171	3.45e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137754

SMART Domains

Protein: ENSMUSP00000121240
Gene: ENSMUSG00000034566

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	2	138	1.8e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180072

SMART Domains

Protein: ENSMUSP00000137071
Gene: ENSMUSG00000034566

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_D	2	161	2.7e-77	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,182,760 (GRCm39)	Y236C	probably benign	Het
Arhgef2	T	C	3: 88,549,910 (GRCm39)	L655P	probably damaging	Het
Brsk2	T	C	7: 141,538,153 (GRCm39)	S100P	probably damaging	Het
Calb1	A	G	4: 15,898,926 (GRCm39)	T141A	probably benign	Het
Cog6	T	C	3: 52,900,938 (GRCm39)	T447A	probably benign	Het
Cyp4f13	A	T	17: 33,148,907 (GRCm39)	N279K	probably benign	Het
Dnah11	T	C	12: 117,842,259 (GRCm39)	D4440G	possibly damaging	Het
Dspp	A	T	5: 104,323,194 (GRCm39)	E112D	possibly damaging	Het
Fam3c	T	A	6: 22,328,675 (GRCm39)	T71S	possibly damaging	Het
Fcgbpl1	T	C	7: 27,846,774 (GRCm39)	V1119A	possibly damaging	Het
Fdxr	C	A	11: 115,162,144 (GRCm39)	G188W	probably damaging	Het
Fndc5	T	C	4: 129,032,514 (GRCm39)	V39A	possibly damaging	Het
Gm14226	T	C	2: 154,866,646 (GRCm39)	I201T	possibly damaging	Het
Grip1	C	T	10: 119,890,810 (GRCm39)	Q950*	probably null	Het
Haspin	A	T	11: 73,027,572 (GRCm39)	Y506N	probably benign	Het
Itga2b	C	A	11: 102,358,212 (GRCm39)	R171L	probably benign	Het
Kirrel2	A	G	7: 30,149,801 (GRCm39)		probably null	Het
Ldc1	C	A	4: 130,114,136 (GRCm39)	A94S	probably benign	Het
Lmx1b	A	G	2: 33,455,126 (GRCm39)	F310S		Het
Map4k4	A	T	1: 40,045,835 (GRCm39)	I574F	probably damaging	Het
Nrip1	T	C	16: 76,088,287 (GRCm39)	K1090R	probably benign	Het
Ntrk3	T	C	7: 77,842,326 (GRCm39)	Y820C	probably damaging	Het
Or5ac25	T	A	16: 59,182,534 (GRCm39)	I16L	probably benign	Het
Or5b96	T	C	19: 12,867,849 (GRCm39)	T31A	probably benign	Het
Pcdhb11	T	C	18: 37,555,242 (GRCm39)	Y191H	probably benign	Het
Pgm5	T	C	19: 24,705,089 (GRCm39)	K475E	probably benign	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psd4	A	T	2: 24,293,223 (GRCm39)	D696V	probably damaging	Het
Rere	T	C	4: 150,697,129 (GRCm39)	F556L	unknown	Het
Sema4f	A	T	6: 82,894,382 (GRCm39)	C528S	probably damaging	Het
Sorcs2	A	G	5: 36,195,550 (GRCm39)	S680P	probably benign	Het
Sv2c	T	C	13: 96,225,073 (GRCm39)	T79A	probably damaging	Het
Tars3	A	G	7: 65,325,809 (GRCm39)	N461S	probably benign	Het
Thada	T	C	17: 84,533,468 (GRCm39)	N1661S	probably benign	Het
Tubd1	A	T	11: 86,440,264 (GRCm39)	Q96L	probably damaging	Het
Vmn2r72	T	C	7: 85,400,227 (GRCm39)	D274G	probably damaging	Het
Vps13d	A	T	4: 144,709,882 (GRCm39)		probably benign	Het
Vwce	C	A	19: 10,627,938 (GRCm39)	S466Y	probably damaging	Het
Wdr11	T	C	7: 129,236,560 (GRCm39)	I1178T	probably benign	Het
Zfp568	A	T	7: 29,714,558 (GRCm39)	H145L	probably benign	Het
Zfp606	T	C	7: 12,226,788 (GRCm39)	I303T	possibly damaging	Het
Zfp846	A	G	9: 20,504,587 (GRCm39)	D149G	probably benign	Het

Other mutations in Kctd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02831:Kctd2	APN	11	115,321,166 (GRCm39)	makesense	probably null
IGL03274:Kctd2	APN	11	115,320,208 (GRCm39)	missense	possibly damaging	0.68
R0066:Kctd2	UTSW	11	115,320,343 (GRCm39)	intron	probably benign
R0066:Kctd2	UTSW	11	115,320,343 (GRCm39)	intron	probably benign
R3888:Kctd2	UTSW	11	115,318,345 (GRCm39)	missense	probably damaging	1.00
R4393:Kctd2	UTSW	11	115,320,326 (GRCm39)	intron	probably benign
R4868:Kctd2	UTSW	11	115,320,205 (GRCm39)	missense	probably damaging	0.99
R7248:Kctd2	UTSW	11	115,312,845 (GRCm39)	missense	possibly damaging	0.46
R8485:Kctd2	UTSW	11	115,320,434 (GRCm39)	intron	probably benign
R8527:Kctd2	UTSW	11	115,320,310 (GRCm39)	intron	probably benign
R8542:Kctd2	UTSW	11	115,320,310 (GRCm39)	intron	probably benign
R8768:Kctd2	UTSW	11	115,311,279 (GRCm39)	missense	probably damaging	1.00
R9429:Kctd2	UTSW	11	115,318,277 (GRCm39)	missense	probably damaging	1.00
Z1088:Kctd2	UTSW	11	115,312,813 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AATGAGCATGGAGTCCCGTC -3'
(R):5'- ACTCAAGTCCGGGTTTGCAG -3'

Sequencing Primer
(F):5'- ATGGAGTCCCGTCCTGGAAG -3'
(R):5'- GGAAACGCGTCCCAGAGATC -3'

Posted On

2020-07-28