Mutagenetix > Incidental Mutation

Incidental Mutation 'R3113:Csnk2a1'

263866

Institutional Source

Beutler Lab

Gene Symbol

Csnk2a1

Ensembl Gene

ENSMUSG00000074698

Gene Name

casein kinase 2, alpha 1 polypeptide

Synonyms

CK2, Csnk2a1-rs4

MMRRC Submission

040586-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3113 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152068759-152123772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152105134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 181 (F181Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099224] [ENSMUST00000124791]

AlphaFold

Q60737

Predicted Effect

probably damaging
Transcript: ENSMUST00000099224
AA Change: F181Y

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

SMART Domains

Protein: ENSMUSP00000096829
Gene: ENSMUSG00000074698
AA Change: F181Y

Domain	Start	End	E-Value	Type
S_TKc	39	324	1.88e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124791

SMART Domains

Protein: ENSMUSP00000122505
Gene: ENSMUSG00000074698

Domain	Start	End	E-Value	Type
Pfam:Pkinase	39	76	3.8e-7	PFAM
Pfam:Pkinase	71	131	9.4e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136063

Meta Mutation Damage Score

0.7573

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythms. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for the null in the major catalytic subunit die by E11.5 and exhibit defects in neural, cardiac and limb development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,372 (GRCm39)	Y248*	probably null	Het
Acta2	T	C	19: 34,220,752 (GRCm39)	I319V	probably benign	Het
Alox15	A	T	11: 70,235,703 (GRCm39)	N585K	probably benign	Het
Ank	T	A	15: 27,571,700 (GRCm39)	I324N	probably damaging	Het
Ank1	A	G	8: 23,574,813 (GRCm39)	N99D	probably damaging	Het
As3mt	T	C	19: 46,703,717 (GRCm39)		probably benign	Het
Atg4b	C	T	1: 93,703,426 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,047,541 (GRCm39)	V705D	probably damaging	Het
Bves	T	C	10: 45,219,148 (GRCm39)	V82A	probably benign	Het
Cad	C	A	5: 31,231,481 (GRCm39)	H7Q	possibly damaging	Het
Carmil1	A	G	13: 24,253,740 (GRCm39)	V387A	probably benign	Het
Cwc22	A	T	2: 77,754,823 (GRCm39)		probably benign	Het
Ddx18	A	G	1: 121,493,877 (GRCm39)	S36P	possibly damaging	Het
Dnai2	T	A	11: 114,642,756 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,769,008 (GRCm39)	M765K	probably benign	Het
Fitm2	T	C	2: 163,311,511 (GRCm39)	Y234C	probably damaging	Het
Flrt3	T	C	2: 140,503,454 (GRCm39)	E58G	probably benign	Het
Foxs1	A	G	2: 152,774,156 (GRCm39)	V299A	probably benign	Het
Galnt12	A	G	4: 47,108,415 (GRCm39)	N184S	probably benign	Het
Gata6	T	C	18: 11,063,124 (GRCm39)	L464P	probably damaging	Het
Gm17332	T	C	11: 31,132,384 (GRCm39)	T27A	possibly damaging	Het
Ifna11	A	C	4: 88,738,220 (GRCm39)	M9L	probably benign	Het
Ldb3	T	A	14: 34,251,418 (GRCm39)	*623L	probably null	Het
Lrrc27	A	G	7: 138,798,223 (GRCm39)	D106G	probably damaging	Het
Ly6f	A	G	15: 75,143,577 (GRCm39)	N95D	probably benign	Het
Lyst	A	G	13: 13,844,512 (GRCm39)	I1901V	probably benign	Het
Mboat2	A	G	12: 24,932,718 (GRCm39)	Y70C	probably damaging	Het
Mmut	G	A	17: 41,269,247 (GRCm39)	G610D	probably damaging	Het
Mroh1	T	A	15: 76,292,736 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,399,871 (GRCm39)	H448R	unknown	Het
Myh2	A	G	11: 67,076,012 (GRCm39)	N733S	probably damaging	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Nlrp1a	A	T	11: 71,014,491 (GRCm39)	I253N	probably damaging	Het
Ocrl	A	G	X: 47,022,304 (GRCm39)	E258G	probably benign	Het
Or2w1	T	A	13: 21,317,299 (GRCm39)	M118K	probably damaging	Het
Or6c2	A	T	10: 129,363,012 (GRCm39)	R305S	probably benign	Het
Pak1	C	A	7: 97,515,321 (GRCm39)	S115*	probably null	Het
Pilrb1	C	T	5: 137,853,195 (GRCm39)	V203I	possibly damaging	Het
Ppfia2	T	A	10: 106,742,256 (GRCm39)	Y1016*	probably null	Het
Prmt3	C	A	7: 49,431,760 (GRCm39)	P121Q	probably damaging	Het
Rhox6	T	A	X: 36,916,507 (GRCm39)	I116N	possibly damaging	Het
Saxo2	A	C	7: 82,292,949 (GRCm39)	F49L	probably benign	Het
Scn2a	A	C	2: 65,579,129 (GRCm39)	D1488A	possibly damaging	Het
Scn5a	T	A	9: 119,314,738 (GRCm39)	D1989V	probably damaging	Het
Sec31b	C	A	19: 44,506,624 (GRCm39)	E905*	probably null	Het
Secisbp2l	A	T	2: 125,592,206 (GRCm39)	F672I	probably damaging	Het
Slc22a23	C	T	13: 34,367,058 (GRCm39)	G650E	probably damaging	Het
Smu1	A	G	4: 40,748,658 (GRCm39)	F211L	probably benign	Het
Spef1l	G	T	7: 139,555,878 (GRCm39)		probably benign	Het
Tab1	C	T	15: 80,032,461 (GRCm39)	L23F	probably benign	Het
Thsd7b	G	A	1: 129,977,599 (GRCm39)	C1078Y	probably benign	Het
Ttn	A	T	2: 76,644,542 (GRCm39)	Y13071N	probably damaging	Het
Usp17ld	A	G	7: 102,899,870 (GRCm39)	V354A	probably benign	Het
Usp31	A	G	7: 121,278,736 (GRCm39)	S210P	probably damaging	Het
Wdr12	T	C	1: 60,126,221 (GRCm39)	D198G	probably benign	Het
Wrap53	A	G	11: 69,454,144 (GRCm39)	V298A	probably benign	Het
Xirp2	A	G	2: 67,340,491 (GRCm39)	I911V	probably benign	Het
Zcchc2	T	C	1: 105,918,752 (GRCm39)	M78T	unknown	Het

Other mutations in Csnk2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Csnk2a1	APN	2	152,117,326 (GRCm39)	missense	probably damaging	1.00
IGL02003:Csnk2a1	APN	2	152,118,890 (GRCm39)	nonsense	probably null
IGL02043:Csnk2a1	APN	2	152,116,070 (GRCm39)	missense	probably damaging	1.00
IGL02803:Csnk2a1	APN	2	152,116,005 (GRCm39)	splice site	probably benign
IGL02815:Csnk2a1	APN	2	152,116,005 (GRCm39)	splice site	probably benign
IGL02818:Csnk2a1	APN	2	152,116,005 (GRCm39)	splice site	probably benign
IGL02819:Csnk2a1	APN	2	152,116,005 (GRCm39)	splice site	probably benign
R1454:Csnk2a1	UTSW	2	152,099,347 (GRCm39)	missense	probably damaging	1.00
R1725:Csnk2a1	UTSW	2	152,099,892 (GRCm39)	missense	probably damaging	0.98
R2086:Csnk2a1	UTSW	2	152,096,201 (GRCm39)	missense	probably benign	0.01
R4003:Csnk2a1	UTSW	2	152,092,495 (GRCm39)	missense	probably damaging	0.97
R4021:Csnk2a1	UTSW	2	152,100,609 (GRCm39)	missense	probably damaging	0.96
R6702:Csnk2a1	UTSW	2	152,100,608 (GRCm39)	missense	probably benign	0.35
R6703:Csnk2a1	UTSW	2	152,100,608 (GRCm39)	missense	probably benign	0.35
R6849:Csnk2a1	UTSW	2	152,092,484 (GRCm39)	missense	probably benign
R7021:Csnk2a1	UTSW	2	152,102,732 (GRCm39)	missense	probably damaging	1.00
R7061:Csnk2a1	UTSW	2	152,116,091 (GRCm39)	missense	probably benign	0.08
R7381:Csnk2a1	UTSW	2	152,100,614 (GRCm39)	missense	probably benign	0.05
R8799:Csnk2a1	UTSW	2	152,099,886 (GRCm39)	missense	probably damaging	1.00
R8990:Csnk2a1	UTSW	2	152,096,177 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTTCTCATAGGATGGTGAAGAGG -3'
(R):5'- AGCCTTCCAATTCCGGATTGTAG -3'

Sequencing Primer
(F):5'- CAGGGTGGTGGCCTGTAC -3'
(R):5'- CCAATTCCGGATTGTAGTTCATTC -3'

Posted On

2015-02-05