Mutagenetix > Incidental Mutation

Incidental Mutation 'R1816:Camkk2'

204417

Institutional Source

Beutler Lab

Gene Symbol

Camkk2

Ensembl Gene

ENSMUSG00000029471

Gene Name

calcium/calmodulin-dependent protein kinase kinase 2, beta

Synonyms

6330570N16Rik

MMRRC Submission

039844-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R1816 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

122869233-122917472 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122872243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 540 (L540P)

Ref Sequence

ENSEMBL: ENSMUSP00000143732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031429] [ENSMUST00000111668] [ENSMUST00000197373] [ENSMUST00000198029] [ENSMUST00000200109]

AlphaFold

Q8C078

Predicted Effect

probably benign
Transcript: ENSMUST00000031429

SMART Domains

Protein: ENSMUSP00000031429
Gene: ENSMUSG00000029470

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	13	381	3e-175	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000111668

SMART Domains

Protein: ENSMUSP00000107297
Gene: ENSMUSG00000029471

Domain	Start	End	E-Value	Type
low complexity region	124	144	N/A	INTRINSIC
S_TKc	165	446	1.53e-92	SMART
low complexity region	464	472	N/A	INTRINSIC
low complexity region	526	539	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000197373

SMART Domains

Protein: ENSMUSP00000142717
Gene: ENSMUSG00000029471

Domain	Start	End	E-Value	Type
SCOP:d1phk__	1	41	3e-8	SMART
PDB:2ZV2\|A	1	42	8e-20	PDB
Blast:S_TKc	1	48	4e-23	BLAST
low complexity region	91	109	N/A	INTRINSIC
low complexity region	123	135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198029

SMART Domains

Protein: ENSMUSP00000142896
Gene: ENSMUSG00000029471

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
S_TKc	18	235	8.2e-12	SMART
low complexity region	259	267	N/A	INTRINSIC
low complexity region	340	350	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200109
AA Change: L540P

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

SMART Domains

Protein: ENSMUSP00000143732
Gene: ENSMUSG00000029471
AA Change: L540P

Domain	Start	End	E-Value	Type
low complexity region	124	144	N/A	INTRINSIC
S_TKc	165	446	1.53e-92	SMART
low complexity region	464	472	N/A	INTRINSIC
low complexity region	526	539	N/A	INTRINSIC

Meta Mutation Damage Score

0.0661

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.9%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]
PHENOTYPE: Inactivation of this locus results in impaird long term potentiation and defects in some types of long term memory. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,644,222 (GRCm39)	Y721*	probably null	Het
4933405L10Rik	T	A	8: 106,436,491 (GRCm39)	V220E	possibly damaging	Het
4933434E20Rik	T	C	3: 89,960,398 (GRCm39)	V13A	possibly damaging	Het
Adam1b	T	G	5: 121,639,788 (GRCm39)	Q419P	probably damaging	Het
Ankib1	A	G	5: 3,784,028 (GRCm39)	V316A	probably benign	Het
Anks1	T	A	17: 28,205,547 (GRCm39)	D294E	probably damaging	Het
Atr	T	C	9: 95,748,747 (GRCm39)	S431P	probably benign	Het
Bfsp1	C	T	2: 143,683,599 (GRCm39)	A242T	probably benign	Het
Bptf	A	T	11: 106,951,405 (GRCm39)	V279E	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Ceacam12	T	A	7: 17,805,690 (GRCm39)		probably null	Het
Cntnap5a	G	T	1: 116,356,618 (GRCm39)	A823S	probably benign	Het
Cp	T	C	3: 20,022,384 (GRCm39)		probably benign	Het
Dhx58	A	G	11: 100,593,978 (GRCm39)	V163A	probably damaging	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Disp1	T	A	1: 182,880,139 (GRCm39)	D288V	probably damaging	Het
Dnah7a	A	G	1: 53,670,901 (GRCm39)		probably benign	Het
Eaf2	T	G	16: 36,628,371 (GRCm39)		probably benign	Het
Efna1	T	C	3: 89,183,694 (GRCm39)	N44S	possibly damaging	Het
Etnppl	T	C	3: 130,428,211 (GRCm39)	I462T	probably benign	Het
Fam83d	G	T	2: 158,610,070 (GRCm39)	A13S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Fstl1	A	G	16: 37,647,086 (GRCm39)		probably null	Het
Gm14226	A	T	2: 154,867,549 (GRCm39)	D502V	probably damaging	Het
Gm5117	T	A	8: 32,228,986 (GRCm39)		noncoding transcript	Het
Gm973	A	G	1: 59,621,558 (GRCm39)	N566S	probably damaging	Het
Grm7	A	T	6: 111,472,752 (GRCm39)	K16*	probably null	Het
Hbb-bh2	G	A	7: 103,489,585 (GRCm39)	T17I	possibly damaging	Het
Htt	C	T	5: 34,961,084 (GRCm39)	A237V	probably benign	Het
Itga6	T	C	2: 71,671,153 (GRCm39)	V665A	probably benign	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Mki67	T	C	7: 135,309,116 (GRCm39)	D445G	possibly damaging	Het
Myo10	T	C	15: 25,800,286 (GRCm39)	V1454A	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,317,131 (GRCm39)	P172L	probably damaging	Het
Odam	A	G	5: 88,037,329 (GRCm39)		probably null	Het
Or1e33	T	C	11: 73,738,025 (GRCm39)	K309E	probably benign	Het
Or2ag13	A	T	7: 106,472,695 (GRCm39)	Y252*	probably null	Het
Or4p18	T	G	2: 88,232,943 (GRCm39)	I112L	possibly damaging	Het
Or5g29	G	T	2: 85,421,269 (GRCm39)	K128N	probably benign	Het
Or5p80	T	C	7: 108,229,364 (GRCm39)	L55P	probably damaging	Het
Or8k33	A	T	2: 86,384,011 (GRCm39)	C152*	probably null	Het
Pcm1	T	A	8: 41,762,574 (GRCm39)	S1412T	probably damaging	Het
Pgap1	A	G	1: 54,531,216 (GRCm39)	L753P	probably damaging	Het
Pi4k2b	T	C	5: 52,908,088 (GRCm39)	S153P	probably damaging	Het
Pik3c2b	C	T	1: 133,029,108 (GRCm39)	A1398V	probably benign	Het
Pkhd1l1	T	C	15: 44,391,635 (GRCm39)	I1567T	possibly damaging	Het
Rapgef6	G	A	11: 54,585,314 (GRCm39)	V1571I	probably benign	Het
Rfx2	C	A	17: 57,115,305 (GRCm39)	E5*	probably null	Het
Sh3tc1	C	A	5: 35,857,928 (GRCm39)		probably null	Het
Slc22a12	G	A	19: 6,592,683 (GRCm39)	Q20*	probably null	Het
Slc4a1	A	G	11: 102,242,056 (GRCm39)	C861R	probably damaging	Het
Snrnp25	G	A	11: 32,157,565 (GRCm39)	V48I	probably damaging	Het
Spata1	G	T	3: 146,186,962 (GRCm39)	P211Q	probably damaging	Het
Srgap1	G	A	10: 121,761,876 (GRCm39)	Q91*	probably null	Het
Stab1	T	C	14: 30,879,422 (GRCm39)	D686G	probably benign	Het
Stx8	T	A	11: 67,902,152 (GRCm39)	M112K	possibly damaging	Het
Tfap2b	A	T	1: 19,279,436 (GRCm39)	K15N	probably damaging	Het
Thbs2	C	A	17: 14,890,975 (GRCm39)	D1052Y	probably benign	Het
Thbs2	T	A	17: 14,890,976 (GRCm39)	E1051D	probably benign	Het
Thoc2l	A	G	5: 104,665,700 (GRCm39)	D74G	probably benign	Het
Tlr2	T	C	3: 83,745,516 (GRCm39)	Y189C	probably damaging	Het
Tmem268	C	A	4: 63,483,947 (GRCm39)	P55T	possibly damaging	Het
Tnpo3	T	C	6: 29,557,016 (GRCm39)	H745R	probably benign	Het
Trappc14	A	G	5: 138,258,603 (GRCm39)	V548A	possibly damaging	Het
Ube2s	T	C	7: 4,814,554 (GRCm39)	N2S	probably damaging	Het
Ulk1	A	G	5: 110,935,697 (GRCm39)	Y39H	probably damaging	Het
Vmn1r49	G	T	6: 90,049,785 (GRCm39)	D72E	possibly damaging	Het
Vmn2r27	C	A	6: 124,207,330 (GRCm39)	G104*	probably null	Het
Vmn2r92	A	G	17: 18,386,939 (GRCm39)	I93V	probably damaging	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zfp958	A	T	8: 4,679,147 (GRCm39)	I391F	possibly damaging	Het

Other mutations in Camkk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01866:Camkk2	APN	5	122,902,013 (GRCm39)	missense	probably damaging	1.00
IGL02321:Camkk2	APN	5	122,902,190 (GRCm39)	missense	probably damaging	0.96
IGL02619:Camkk2	APN	5	122,902,298 (GRCm39)	missense	probably damaging	0.98
IGL03356:Camkk2	APN	5	122,881,937 (GRCm39)	missense	probably damaging	1.00
R0056:Camkk2	UTSW	5	122,880,261 (GRCm39)	missense	probably damaging	1.00
R0078:Camkk2	UTSW	5	122,895,622 (GRCm39)	critical splice donor site	probably null
R0344:Camkk2	UTSW	5	122,901,940 (GRCm39)	missense	probably benign
R1480:Camkk2	UTSW	5	122,872,341 (GRCm39)	splice site	probably null
R1591:Camkk2	UTSW	5	122,895,621 (GRCm39)	critical splice donor site	probably null
R1960:Camkk2	UTSW	5	122,875,575 (GRCm39)	nonsense	probably null
R1985:Camkk2	UTSW	5	122,902,190 (GRCm39)	missense	possibly damaging	0.81
R2256:Camkk2	UTSW	5	122,884,398 (GRCm39)	missense	probably damaging	1.00
R4297:Camkk2	UTSW	5	122,883,769 (GRCm39)	critical splice donor site	probably null
R4687:Camkk2	UTSW	5	122,891,787 (GRCm39)	missense	probably damaging	1.00
R5401:Camkk2	UTSW	5	122,884,398 (GRCm39)	missense	probably damaging	1.00
R5802:Camkk2	UTSW	5	122,872,307 (GRCm39)	missense	probably damaging	0.99
R6167:Camkk2	UTSW	5	122,902,187 (GRCm39)	missense	probably damaging	0.96
R6508:Camkk2	UTSW	5	122,884,382 (GRCm39)	missense	probably damaging	0.96
R7313:Camkk2	UTSW	5	122,875,574 (GRCm39)	missense	possibly damaging	0.55
R7504:Camkk2	UTSW	5	122,884,371 (GRCm39)	missense	probably damaging	1.00
R7626:Camkk2	UTSW	5	122,902,363 (GRCm39)	splice site	probably benign
R7664:Camkk2	UTSW	5	122,894,645 (GRCm39)	missense	unknown
R7698:Camkk2	UTSW	5	122,884,482 (GRCm39)	missense	probably damaging	0.96
R7805:Camkk2	UTSW	5	122,880,275 (GRCm39)	missense	possibly damaging	0.92
R7937:Camkk2	UTSW	5	122,902,097 (GRCm39)	missense	probably benign	0.01
R8289:Camkk2	UTSW	5	122,894,689 (GRCm39)	missense	probably damaging	1.00
R8726:Camkk2	UTSW	5	122,882,002 (GRCm39)	missense	probably benign	0.19
R8852:Camkk2	UTSW	5	122,891,820 (GRCm39)	missense	probably damaging	1.00
R9748:Camkk2	UTSW	5	122,872,182 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- AGTCAAGGCTCTACACACGTG -3'
(R):5'- AGATGTAACCCGTGGGAATGTG -3'

Sequencing Primer
(F):5'- CATGCTGCTATGGAAACGC -3'
(R):5'- CCGTGGGAATGTGGGAGC -3'

Posted On

2014-06-23