Mutagenetix > Incidental Mutations

Incidental Mutation 'R8169:Csnk1g2'

633981

Institutional Source

Beutler Lab

Gene Symbol

Csnk1g2

Ensembl Gene

ENSMUSG00000003345

Gene Name

casein kinase 1, gamma 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8169 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80622838-80640749 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80639802 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 401 (D401G)

Ref Sequence

ENSEMBL: ENSMUSP00000078706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003434] [ENSMUST00000079773] [ENSMUST00000085435] [ENSMUST00000126980]

Predicted Effect

probably benign
Transcript: ENSMUST00000003434

SMART Domains

Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344

Domain	Start	End	E-Value	Type
low complexity region	27	68	N/A	INTRINSIC
BTB	115	215	9.96e-25	SMART
BACK	220	328	6.36e-13	SMART
Pfam:PHR	373	522	7.1e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000079773
AA Change: D401G

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

SMART Domains

Protein: ENSMUSP00000078706
Gene: ENSMUSG00000003345
AA Change: D401G

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
Pfam:Pkinase	126	329	2e-19	PFAM
Pfam:Pkinase_Tyr	128	329	6.2e-10	PFAM
Pfam:CK1gamma_C	382	412	4e-11	PFAM
low complexity region	425	436	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000085435
AA Change: D374G

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

SMART Domains

Protein: ENSMUSP00000082560
Gene: ENSMUSG00000003345
AA Change: D374G

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
Pfam:Pkinase_Tyr	46	308	1.3e-14	PFAM
Pfam:Pkinase	46	313	7.6e-35	PFAM
Pfam:CK1gamma_C	354	385	1.2e-11	PFAM
low complexity region	398	409	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126980

SMART Domains

Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344

Domain	Start	End	E-Value	Type
low complexity region	12	53	N/A	INTRINSIC
BTB	100	200	9.96e-25	SMART
BACK	205	313	6.36e-13	SMART
Pfam:PHR	358	508	4.3e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131876

SMART Domains

Protein: ENSMUSP00000120780
Gene: ENSMUSG00000003344

Domain	Start	End	E-Value	Type
BTB	2	85	4.38e-12	SMART
BACK	90	199	1.21e-13	SMART
PDB:3NO8\|B	234	256	1e-8	PDB

Meta Mutation Damage Score

0.1601

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	C	A	5: 139,364,057	G79V	probably damaging	Het
4930562C15Rik	T	A	16: 4,866,218	Y226N	probably benign	Het
6430573F11Rik	A	T	8: 36,511,703	K153N	probably damaging	Het
Bach1	G	A	16: 87,722,502	C560Y	possibly damaging	Het
BC049730	T	A	7: 24,712,575	M60K	probably benign	Het
Capn13	T	A	17: 73,326,472		probably null	Het
Casq2	G	T	3: 102,110,312	A103S	possibly damaging	Het
Cfap100	A	G	6: 90,417,674	F57S		Het
Clca2	A	T	3: 145,077,892	L654Q	probably damaging	Het
Cntnap5c	T	A	17: 58,104,770		probably null	Het
Crtc2	G	C	3: 90,263,576	G652A	probably damaging	Het
Dars	T	C	1: 128,376,265	N242D	probably null	Het
Dnah10	T	C	5: 124,800,882	L2677P	probably damaging	Het
Dnal1	G	A	12: 84,124,556	A3T	probably benign	Het
Dpep2	C	T	8: 105,996,217	V60I		Het
Ehmt2	T	A	17: 34,903,363	I302N	probably benign	Het
Eif3a	C	T	19: 60,762,190	R1309Q	unknown	Het
Eno4	T	A	19: 58,946,652	Y100N	probably benign	Het
Ephx2	A	T	14: 66,112,153		probably null	Het
Fam102a	T	C	2: 32,563,748	I203T	probably benign	Het
Fbxw14	A	T	9: 109,277,216	I251K	probably benign	Het
Fcgbp	T	C	7: 28,085,494		probably null	Het
Foxm1	A	C	6: 128,371,708		probably null	Het
Fscn3	T	A	6: 28,430,329	I166N	possibly damaging	Het
Gdpd4	G	T	7: 97,972,128	V193L	probably benign	Het
Gm9573	T	C	17: 35,621,180	T705A	unknown	Het
Gnpat	T	G	8: 124,880,130	C352G	probably benign	Het
H2-Q7	T	A	17: 35,439,934	Y120*	probably null	Het
Hmha1	G	A	10: 80,027,872	A819T	probably damaging	Het
Klri1	G	A	6: 129,717,107	R6C	probably benign	Het
Kmo	T	C	1: 175,649,163	V154A	probably benign	Het
Kmt2c	A	G	5: 25,354,687	L1031P	probably damaging	Het
Lrrc14b	T	G	13: 74,363,167	T265P	possibly damaging	Het
Lrrc2	C	T	9: 110,980,886	T330I	probably benign	Het
Lyn	T	A	4: 3,783,050	S428T	probably damaging	Het
Mfsd8	T	A	3: 40,837,115	M59L	probably benign	Het
Mok	T	A	12: 110,808,365	Q341L	probably benign	Het
Myh3	C	A	11: 67,089,030	N598K	probably benign	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nlrp4e	A	G	7: 23,320,506	I139M	probably benign	Het
Olfr139	T	A	11: 74,044,881	Q131L	possibly damaging	Het
Olfr142	G	A	2: 90,252,098	R297*	probably null	Het
Olfr577	A	G	7: 102,973,338	L218P	probably damaging	Het
Olfr667	A	T	7: 104,916,412	Y295N	possibly damaging	Het
Olfr741	T	C	14: 50,486,235	V259A	probably benign	Het
Osbpl7	G	A	11: 97,054,850	S312N	probably damaging	Het
Paxip1	A	G	5: 27,772,095	L323P	unknown	Het
Pcdh18	T	A	3: 49,745,235	H926L	probably damaging	Het
Pcm1	T	G	8: 41,310,116	S1460R	possibly damaging	Het
Pdha2	A	G	3: 141,211,394	S118P	possibly damaging	Het
Pdss1	A	T	2: 22,901,812	Y86F	probably benign	Het
Ppargc1a	A	T	5: 51,473,684	D534E	probably benign	Het
Prune2	A	G	19: 17,125,091	K2538R	probably benign	Het
Ptprq	A	T	10: 107,582,490	I1675N	probably damaging	Het
Rgma	C	T	7: 73,375,882	P3L	probably benign	Het
Ros1	A	G	10: 52,064,672		probably null	Het
Rsg1	A	G	4: 141,218,219	H127R	probably damaging	Het
Sema4g	C	T	19: 44,998,971	R519W	probably damaging	Het
Serpinc1	T	A	1: 160,993,401	F139L	probably damaging	Het
Slc22a29	A	G	19: 8,207,332	I198T	probably damaging	Het
Slc4a5	T	C	6: 83,303,391	V1007A	probably benign	Het
Sptbn1	T	C	11: 30,197,783	Y17C	possibly damaging	Het
Tex261	C	A	6: 83,775,017		probably null	Het
Timmdc1	T	A	16: 38,510,786	T128S	probably benign	Het
Tmem120b	C	A	5: 123,099,936	Y96*	probably null	Het
Tmem196	T	A	12: 120,018,576	F182I	possibly damaging	Het
Tnxb	G	A	17: 34,699,207	V2365M	possibly damaging	Het
Tph1	T	C	7: 46,653,809		silent	Het
Trpc1	G	A	9: 95,710,270	Q551*	probably null	Het
Tubgcp3	T	C	8: 12,616,099	N828D	probably benign	Het
Unc13a	C	A	8: 71,656,289	G478W	probably damaging	Het
Usp15	T	A	10: 123,125,893	T627S		Het
Vmn1r115	A	T	7: 20,844,219	I256N	probably damaging	Het
Vmn2r6	T	A	3: 64,539,889	K585N	probably benign	Het
Vsir	G	T	10: 60,358,268		probably null	Het
Xirp2	A	G	2: 67,513,199	D1928G	probably benign	Het
Xylt1	A	G	7: 117,650,619	Y672C	probably damaging	Het
Yrdc	A	G	4: 124,851,087	S105G	probably benign	Het
Zfc3h1	T	A	10: 115,418,711	N1403K	probably damaging	Het
Zfp160	A	T	17: 21,027,036	H616L	probably damaging	Het
Zfp637	T	A	6: 117,845,291	F127I	probably damaging	Het
Zfp69	G	T	4: 120,930,534	A528D	probably damaging	Het
Zpr1	T	A	9: 46,278,347	L342Q	possibly damaging	Het

Other mutations in Csnk1g2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Csnk1g2	APN	10	80634647	unclassified	probably benign
IGL01657:Csnk1g2	APN	10	80639629	missense	probably benign	0.02
IGL01920:Csnk1g2	APN	10	80638428	missense	probably damaging	1.00
IGL02887:Csnk1g2	APN	10	80638535	missense	probably damaging	1.00
R2845:Csnk1g2	UTSW	10	80638604	missense	probably damaging	1.00
R4135:Csnk1g2	UTSW	10	80638296	missense	possibly damaging	0.84
R4626:Csnk1g2	UTSW	10	80639814	missense	probably damaging	0.98
R4717:Csnk1g2	UTSW	10	80637915	missense	probably benign	0.36
R4729:Csnk1g2	UTSW	10	80639204	missense	probably benign	0.01
R5546:Csnk1g2	UTSW	10	80638398	missense	probably benign	0.36
R6000:Csnk1g2	UTSW	10	80638944	missense	probably damaging	0.99
R6415:Csnk1g2	UTSW	10	80638296	missense	possibly damaging	0.84
R6449:Csnk1g2	UTSW	10	80640072	missense	probably damaging	1.00
R7144:Csnk1g2	UTSW	10	80637899	missense	probably damaging	1.00
R7263:Csnk1g2	UTSW	10	80634498	missense	probably damaging	0.97
R7316:Csnk1g2	UTSW	10	80639853	missense	possibly damaging	0.95
R8171:Csnk1g2	UTSW	10	80639802	missense	probably damaging	1.00
R8227:Csnk1g2	UTSW	10	80638629	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCGCGACAAAGCTCAGCTC -3'
(R):5'- TGAAGAAGCAGCAGCACCTG -3'

Sequencing Primer
(F):5'- TCCACACCAAGAACCAGGTGAG -3'
(R):5'- ACCTGCACGGGTGACAAG -3'

Posted On

2020-07-13