Mutagenetix > Incidental Mutation

Incidental Mutation 'R4687:Camkk2'

353748

Institutional Source

Beutler Lab

Gene Symbol

Camkk2

Ensembl Gene

ENSMUSG00000029471

Gene Name

calcium/calmodulin-dependent protein kinase kinase 2, beta

Synonyms

6330570N16Rik

MMRRC Submission

041938-MU

Accession Numbers

Essential gene?

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

Stock #

R4687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122869233-122917472 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122891787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 245 (H245R)

Ref Sequence

ENSEMBL: ENSMUSP00000143732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111668] [ENSMUST00000196742] [ENSMUST00000198029] [ENSMUST00000198257] [ENSMUST00000200109]

AlphaFold

Q8C078

Predicted Effect

probably damaging
Transcript: ENSMUST00000111668
AA Change: H245R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107297
Gene: ENSMUSG00000029471
AA Change: H245R

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 benign
Transcript: ENSMUST00000196742

SMART Domains

Protein: ENSMUSP00000142812
Gene: ENSMUSG00000029471

Domain	Start	End	E-Value	Type
low complexity region	124	144	N/A	INTRINSIC
Pfam:Pkinase	165	206	1.7e-5	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000198029
AA Change: H40R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142896
Gene: ENSMUSG00000029471
AA Change: H40R

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: ENSMUST00000198177

Predicted Effect

probably benign
Transcript: ENSMUST00000198257

SMART Domains

Protein: ENSMUSP00000143162
Gene: ENSMUSG00000029471

Domain	Start	End	E-Value	Type
low complexity region	27	47	N/A	INTRINSIC
Pfam:Pkinase	68	109	3.9e-5	PFAM
low complexity region	111	117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199988

Predicted Effect

probably damaging
Transcript: ENSMUST00000200109
AA Change: H245R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143732
Gene: ENSMUSG00000029471
AA Change: H245R

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,210,985 (GRCm39)	Y45N	probably damaging	Het
Agbl3	T	C	6: 34,775,261 (GRCm39)	V189A	probably damaging	Het
Akip1	C	A	7: 109,304,193 (GRCm39)	S90*	probably null	Het
Amn	A	T	12: 111,242,502 (GRCm39)	D439V	probably benign	Het
Arhgap17	T	A	7: 122,920,826 (GRCm39)	D149V	probably damaging	Het
Atp6v0a4	A	T	6: 38,069,400 (GRCm39)	I76N	possibly damaging	Het
Atp6v1h	A	T	1: 5,203,308 (GRCm39)	N291I	probably damaging	Het
Baiap2l2	G	T	15: 79,143,453 (GRCm39)	P462T	probably damaging	Het
Bves	C	T	10: 45,230,936 (GRCm39)		probably null	Het
Cabp7	T	A	11: 4,689,265 (GRCm39)	K127*	probably null	Het
Cacna1h	A	G	17: 25,612,884 (GRCm39)	V313A	possibly damaging	Het
Celsr1	T	A	15: 85,816,661 (GRCm39)	S1761C	possibly damaging	Het
Cfap46	T	C	7: 139,207,372 (GRCm39)	E1849G	possibly damaging	Het
Ciz1	T	C	2: 32,257,477 (GRCm39)	L174P	probably damaging	Het
Crim1	G	T	17: 78,610,454 (GRCm39)	C303F	probably damaging	Het
Cyp26c1	A	G	19: 37,681,385 (GRCm39)	Q396R	probably damaging	Het
Dnajc7	G	A	11: 100,490,126 (GRCm39)	P43L	probably damaging	Het
Dpf2	T	C	19: 5,957,040 (GRCm39)	H16R	probably damaging	Het
Dsp	A	G	13: 38,375,595 (GRCm39)	T1127A	probably damaging	Het
Dst	T	C	1: 34,240,204 (GRCm39)	L1525P	probably damaging	Het
Ehf	T	A	2: 103,097,471 (GRCm39)	D192V	probably damaging	Het
Frem1	G	T	4: 82,938,868 (GRCm39)	N71K	probably damaging	Het
Furin	T	A	7: 80,043,195 (GRCm39)	T339S	probably benign	Het
Gad1	T	A	2: 70,431,064 (GRCm39)	I569N	possibly damaging	Het
Gfi1	T	C	5: 107,871,676 (GRCm39)	K10R	probably damaging	Het
Gm20775	T	A	Y: 10,641,258 (GRCm39)		noncoding transcript	Homo
Gpn3	A	C	5: 122,516,638 (GRCm39)	D89A	possibly damaging	Het
Gpr18	T	A	14: 122,149,090 (GRCm39)	R312*	probably null	Het
Gsap	T	C	5: 21,451,969 (GRCm39)		probably benign	Het
H2-Ab1	C	A	17: 34,483,783 (GRCm39)	T48K	probably damaging	Het
Hmcn2	A	T	2: 31,328,297 (GRCm39)	N4326I	probably benign	Het
Igkv4-51	A	C	6: 69,658,714 (GRCm39)		probably benign	Het
Insr	T	C	8: 3,211,709 (GRCm39)	H1104R	probably benign	Het
Ipo13	A	T	4: 117,758,773 (GRCm39)	N697K	probably benign	Het
Iqcm	T	G	8: 76,489,617 (GRCm39)	F362V	probably damaging	Het
Irak4	T	C	15: 94,464,704 (GRCm39)	S425P	probably damaging	Het
Jakmip2	T	C	18: 43,710,477 (GRCm39)	E242G	possibly damaging	Het
Kdm4a	T	C	4: 118,001,280 (GRCm39)	K829R	probably damaging	Het
Kdr	T	C	5: 76,129,452 (GRCm39)	N145S	possibly damaging	Het
Klra9	A	T	6: 130,162,480 (GRCm39)	D185E	probably benign	Het
Lcn12	T	C	2: 25,383,333 (GRCm39)	N15S	probably benign	Het
Mei4	T	A	9: 81,809,370 (GRCm39)	M151K	probably damaging	Het
Mmp3	T	A	9: 7,451,223 (GRCm39)	S320T	probably benign	Het
Mrps5	C	G	2: 127,432,690 (GRCm39)	A37G	probably benign	Het
Mttp	A	G	3: 137,798,496 (GRCm39)	I800T	possibly damaging	Het
Nags	A	T	11: 102,039,022 (GRCm39)	Q451L	probably damaging	Het
Nbea	T	C	3: 55,965,486 (GRCm39)	T476A	probably damaging	Het
Ndufb10	T	C	17: 24,941,393 (GRCm39)	E145G	possibly damaging	Het
Neb	T	G	2: 52,194,047 (GRCm39)	S660R	possibly damaging	Het
Nppb	A	G	4: 148,070,753 (GRCm39)	K43E	probably benign	Het
Nup188	A	T	2: 30,220,645 (GRCm39)	Q906L	probably benign	Het
Or10k2	T	A	8: 84,268,489 (GRCm39)	S239T	probably damaging	Het
Or4c12	T	C	2: 89,774,213 (GRCm39)	D82G	probably damaging	Het
Or8c17	C	A	9: 38,180,710 (GRCm39)	N292K	probably damaging	Het
Or9s23	T	C	1: 92,501,052 (GRCm39)	I53T	possibly damaging	Het
Ovch2	T	A	7: 107,395,755 (GRCm39)	I88F	possibly damaging	Het
Palm3	A	G	8: 84,756,564 (GRCm39)	E692G	probably benign	Het
Pcsk6	T	C	7: 65,633,501 (GRCm39)	F578L	probably damaging	Het
Piezo2	A	C	18: 63,203,034 (GRCm39)	D1535E	probably damaging	Het
Ppp1r15b	T	C	1: 133,059,873 (GRCm39)	V130A	probably benign	Het
Proca1	T	C	11: 78,095,724 (GRCm39)	Y32H	probably damaging	Het
Prtg	T	A	9: 72,798,080 (GRCm39)	V682E	probably damaging	Het
Pyroxd1	A	T	6: 142,307,594 (GRCm39)	M455L	probably benign	Het
Rasa1	T	C	13: 85,374,754 (GRCm39)	D739G	possibly damaging	Het
Scn3a	T	C	2: 65,295,074 (GRCm39)	I1550V	possibly damaging	Het
Sepsecs	T	C	5: 52,801,213 (GRCm39)	D483G	probably benign	Het
Setd7	T	C	3: 51,457,776 (GRCm39)	D17G	probably damaging	Het
Sipa1l2	C	T	8: 126,217,984 (GRCm39)	C451Y	probably damaging	Het
Slc31a1	A	G	4: 62,306,939 (GRCm39)	Y165C	probably damaging	Het
Smg5	T	C	3: 88,249,776 (GRCm39)	F68L	possibly damaging	Het
Sptbn5	A	G	2: 119,907,689 (GRCm39)		probably benign	Het
Stk3	A	G	15: 35,114,711 (GRCm39)	I65T	probably damaging	Het
Tas2r115	C	T	6: 132,714,247 (GRCm39)	A235T	possibly damaging	Het
Tenm2	C	T	11: 35,939,924 (GRCm39)	A1400T	probably benign	Het
Tet1	T	A	10: 62,674,570 (GRCm39)	N1169Y	probably benign	Het
Treml2	T	A	17: 48,616,425 (GRCm39)		probably null	Het
Tspan11	A	G	6: 127,915,198 (GRCm39)	E104G	probably damaging	Het
Wdtc1	G	A	4: 133,023,742 (GRCm39)	A543V	probably damaging	Het
Zfp148	T	A	16: 33,317,189 (GRCm39)	D578E	probably damaging	Het
Zfp735	A	T	11: 73,602,682 (GRCm39)	N542I	probably damaging	Het
Zfp735	A	T	11: 73,602,681 (GRCm39)	N542Y	probably damaging	Het
Zfp869	T	A	8: 70,160,793 (GRCm39)	E65D	probably benign	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
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
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'- TAGGTAAAGGGCAAGCCTCG -3'
(R):5'- CTTCCGTTGTCCCATTAGCAGATG -3'

Sequencing Primer
(F):5'- CAACTTTTGCATCTGTAAAATGGGGG -3'
(R):5'- CCATTAGCAGATGCCCTCG -3'

Posted On

2015-10-21