Mutagenetix > Incidental Mutation

Incidental Mutation 'R1960:Camkk2'

318023

Institutional Source

Beutler Lab

Gene Symbol

Camkk2

Ensembl Gene

ENSMUSG00000029471

Gene Name

calcium/calmodulin-dependent protein kinase kinase 2, beta

Synonyms

6330570N16Rik

MMRRC Submission

039974-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R1960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122869233-122917472 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 122875575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 492 (R492*)

Ref Sequence

ENSEMBL: ENSMUSP00000143732 (fasta)

Gene Model

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

AlphaFold

Q8C078

Predicted Effect

probably null
Transcript: ENSMUST00000111668
AA Change: R492*

SMART Domains

Protein: ENSMUSP00000107297
Gene: ENSMUSG00000029471
AA Change: R492*

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

probably null
Transcript: ENSMUST00000197373
AA Change: R49*

SMART Domains

Protein: ENSMUSP00000142717
Gene: ENSMUSG00000029471
AA Change: R49*

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 null
Transcript: ENSMUST00000198029
AA Change: R287*

SMART Domains

Protein: ENSMUSP00000142896
Gene: ENSMUSG00000029471
AA Change: R287*

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

noncoding transcript
Transcript: ENSMUST00000199830

Predicted Effect

probably null
Transcript: ENSMUST00000200109
AA Change: R492*

SMART Domains

Protein: ENSMUSP00000143732
Gene: ENSMUSG00000029471
AA Change: R492*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (95/95)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	C	T	3: 145,643,976 (GRCm39)	P55S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aoc1l1	C	T	6: 48,952,687 (GRCm39)	T204I	probably damaging	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arid1a	A	T	4: 133,480,401 (GRCm39)	H174Q	possibly damaging	Het
Btbd2	A	G	10: 80,480,539 (GRCm39)	I358T	probably benign	Het
Capn3	T	C	2: 120,294,421 (GRCm39)	V23A	probably benign	Het
Carm1	T	G	9: 21,491,606 (GRCm39)	V225G	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc60	C	A	5: 116,284,243 (GRCm39)	M298I	probably benign	Het
Celsr3	C	T	9: 108,723,016 (GRCm39)	P2801L	probably benign	Het
Clec4n	T	A	6: 123,207,505 (GRCm39)	V23E	probably damaging	Het
Cmtr2	T	G	8: 110,948,382 (GRCm39)	L231V	probably damaging	Het
Csrnp3	T	G	2: 65,853,363 (GRCm39)	V585G	probably null	Het
Ctnnd2	T	C	15: 30,647,257 (GRCm39)	S318P	probably damaging	Het
Cubn	A	T	2: 13,344,828 (GRCm39)		probably null	Het
Dgkd	C	A	1: 87,857,549 (GRCm39)	P754T	possibly damaging	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dnajc24	A	G	2: 105,832,268 (GRCm39)		probably benign	Het
Dner	A	T	1: 84,423,177 (GRCm39)	S475R	probably damaging	Het
Dtnb	T	C	12: 3,831,190 (GRCm39)	L630P	probably benign	Het
Dysf	T	C	6: 84,050,885 (GRCm39)	F411L	probably benign	Het
Fbh1	G	A	2: 11,762,339 (GRCm39)	A566V	probably damaging	Het
Fbxw19	G	T	9: 109,315,004 (GRCm39)	T186K	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Grhl2	T	A	15: 37,336,558 (GRCm39)	V54D	probably damaging	Het
Hmcn1	T	C	1: 150,551,742 (GRCm39)	I2621V	probably benign	Het
Hmcn1	T	A	1: 150,553,127 (GRCm39)	E2521V	possibly damaging	Het
Kcng1	A	G	2: 168,104,904 (GRCm39)	V314A	probably benign	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kifc1	A	G	17: 34,103,561 (GRCm39)		probably null	Het
Klk13	T	A	7: 43,370,431 (GRCm39)	N31K	possibly damaging	Het
Klri1	T	A	6: 129,674,347 (GRCm39)	H221L	probably benign	Het
Ltbp4	G	A	7: 27,028,443 (GRCm39)	P273L	unknown	Het
Med16	T	C	10: 79,742,929 (GRCm39)	H14R	possibly damaging	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mrgpra2a	T	A	7: 47,076,983 (GRCm39)	I92F	probably benign	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Myo5a	T	A	9: 75,055,139 (GRCm39)	F441I	probably damaging	Het
Ndst4	T	A	3: 125,232,331 (GRCm39)	L300*	probably null	Het
Nlgn2	G	T	11: 69,718,136 (GRCm39)	D356E	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Oas1f	G	A	5: 120,994,502 (GRCm39)	C341Y	possibly damaging	Het
Olfm5	A	T	7: 103,809,619 (GRCm39)	C111S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6c74	C	T	10: 129,870,187 (GRCm39)	Q231*	probably null	Het
Or6f2	A	T	7: 139,756,596 (GRCm39)	I188L	probably benign	Het
Or8b12c	A	G	9: 37,715,242 (GRCm39)	I12V	probably benign	Het
Or8g51	T	A	9: 38,609,500 (GRCm39)	H58L	probably benign	Het
Pde10a	T	C	17: 9,161,750 (GRCm39)	I477T	possibly damaging	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	A	T	18: 61,198,855 (GRCm39)	T338S	probably benign	Het
Pgghg	A	G	7: 140,523,260 (GRCm39)	M180V	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Rangap1	T	C	15: 81,590,704 (GRCm39)	T463A	probably benign	Het
Rap1gds1	T	C	3: 138,756,317 (GRCm39)	I13V	probably null	Het
Rbak	A	T	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Reg3b	A	T	6: 78,348,797 (GRCm39)	K31M	probably damaging	Het
Rfpl4	A	T	7: 5,118,533 (GRCm39)	Y12*	probably null	Het
Rnase6	A	G	14: 51,367,889 (GRCm39)	N94D	possibly damaging	Het
Rtn4	T	C	11: 29,686,464 (GRCm39)	L273P	probably damaging	Het
Ryr3	A	C	2: 112,624,812 (GRCm39)	F2203V	probably damaging	Het
Sae1	A	T	7: 16,102,490 (GRCm39)	D161E	possibly damaging	Het
Sema5a	T	C	15: 32,562,877 (GRCm39)	F296S	possibly damaging	Het
Sh3rf1	C	A	8: 61,837,897 (GRCm39)	P814Q	probably damaging	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc25a25	C	T	2: 32,310,663 (GRCm39)		probably null	Het
Slco4c1	T	A	1: 96,795,654 (GRCm39)	M135L	probably benign	Het
Slfn1	A	G	11: 83,012,579 (GRCm39)	I232V	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Srr	A	G	11: 74,799,542 (GRCm39)	V311A	probably damaging	Het
Tasor	T	C	14: 27,160,621 (GRCm39)	S128P	probably damaging	Het
Tasor	C	T	14: 27,201,746 (GRCm39)	H1419Y	possibly damaging	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Topors	T	C	4: 40,261,044 (GRCm39)	R747G	unknown	Het
Trank1	A	T	9: 111,220,696 (GRCm39)	I2478F	probably damaging	Het
Trim69	A	G	2: 121,998,165 (GRCm39)	N46D	probably benign	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttn	T	C	2: 76,644,649 (GRCm39)	K4708R	probably damaging	Het
Unkl	A	G	17: 25,428,619 (GRCm39)		probably benign	Het
Uros	A	T	7: 133,288,735 (GRCm39)	N257K	probably benign	Het
Usp25	A	G	16: 76,873,259 (GRCm39)	Y439C	probably damaging	Het
Vgf	A	G	5: 137,061,029 (GRCm39)		probably benign	Het
Vmn2r8	A	T	5: 108,947,152 (GRCm39)	D533E	probably damaging	Het
Vps13a	A	T	19: 16,702,995 (GRCm39)	Y653N	probably damaging	Het
Zfp358	T	C	8: 3,545,742 (GRCm39)	V135A	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
R1816:Camkk2	UTSW	5	122,872,243 (GRCm39)	missense	probably damaging	1.00
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'- AGCAAAGCCAGTGTGTCTC -3'
(R):5'- ATGTTAGAGCCAGGAGCCTG -3'

Sequencing Primer
(F):5'- AAAGCCAGTGTGTCTCTCCTGG -3'
(R):5'- AAGCAAGCTGCCCCTAGGTTC -3'

Posted On

2015-05-19