Mutagenetix > Incidental Mutation

Incidental Mutation 'R1836:Camk2b'

205309

Institutional Source

Beutler Lab

Gene Symbol

Camk2b

Ensembl Gene

ENSMUSG00000057897

Gene Name

calcium/calmodulin-dependent protein kinase II, beta

Synonyms

CaMK II

MMRRC Submission

039863-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R1836 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5919644-6016362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5922384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 488 (E488G)

Ref Sequence

ENSEMBL: ENSMUSP00000105440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002817] [ENSMUST00000002818] [ENSMUST00000019133] [ENSMUST00000066431] [ENSMUST00000090443] [ENSMUST00000093355] [ENSMUST00000101585] [ENSMUST00000101586] [ENSMUST00000109815] [ENSMUST00000109813] [ENSMUST00000109812]

AlphaFold

P28652

Predicted Effect

probably damaging
Transcript: ENSMUST00000002817
AA Change: E449G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002817
Gene: ENSMUSG00000057897
AA Change: E449G

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
Pfam:CaMKII_AD	371	498	5.3e-63	PFAM
Pfam:DUF4440	375	489	2.8e-15	PFAM
Pfam:SnoaL_3	375	500	2.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000002818

SMART Domains

Protein: ENSMUSP00000002818
Gene: ENSMUSG00000002741

Domain	Start	End	E-Value	Type
low complexity region	25	39	N/A	INTRINSIC
Longin	43	139	1.36e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000019133
AA Change: E612G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019133
Gene: ENSMUSG00000057897
AA Change: E612G

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
low complexity region	320	336	N/A	INTRINSIC
low complexity region	436	451	N/A	INTRINSIC
low complexity region	468	491	N/A	INTRINSIC
low complexity region	511	533	N/A	INTRINSIC
Pfam:CaMKII_AD	534	661	3.7e-62	PFAM
Pfam:DUF4440	538	652	1.6e-13	PFAM
Pfam:SnoaL_3	538	663	4.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066431
AA Change: E425G

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065101
Gene: ENSMUSG00000057897
AA Change: E425G

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
Pfam:CaMKII_AD	347	474	4.8e-63	PFAM
Pfam:DUF4440	351	465	2.6e-15	PFAM
Pfam:SnoaL_3	351	476	2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090443
AA Change: E491G

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000087925
Gene: ENSMUSG00000057897
AA Change: E491G

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
low complexity region	390	412	N/A	INTRINSIC
Pfam:CaMKII_AD	413	540	6.1e-63	PFAM
Pfam:DUF4440	417	531	3.2e-15	PFAM
Pfam:SnoaL_3	417	542	2.5e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000093355
AA Change: E535G

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

SMART Domains

Protein: ENSMUSP00000091046
Gene: ENSMUSG00000057897
AA Change: E535G

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
internal_repeat_1	373	388	8.07e-7	PROSPERO
low complexity region	391	414	N/A	INTRINSIC
internal_repeat_1	416	431	8.07e-7	PROSPERO
low complexity region	434	456	N/A	INTRINSIC
Pfam:CaMKII_AD	457	584	5.8e-63	PFAM
Pfam:DUF4440	461	575	6.7e-15	PFAM
Pfam:SnoaL_3	461	586	4.8e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101585
AA Change: E464G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099119
Gene: ENSMUSG00000057897
AA Change: E464G

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
low complexity region	320	336	N/A	INTRINSIC
Pfam:CaMKII_AD	386	513	5.6e-63	PFAM
Pfam:DUF4440	390	504	3e-15	PFAM
Pfam:SnoaL_3	390	515	2.3e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101586
AA Change: E464G

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099120
Gene: ENSMUSG00000057897
AA Change: E464G

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
Pfam:CaMKII_AD	386	513	5.6e-63	PFAM
Pfam:DUF4440	390	504	3e-15	PFAM
Pfam:SnoaL_3	390	515	2.3e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109815
AA Change: E488G

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

SMART Domains

Protein: ENSMUSP00000105440
Gene: ENSMUSG00000057897
AA Change: E488G

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
low complexity region	320	336	N/A	INTRINSIC
Pfam:CaMKII_AD	410	537	1.4e-62	PFAM
Pfam:DUF4440	414	528	5.9e-15	PFAM
Pfam:SnoaL_3	414	539	5e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109813
AA Change: E488G

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

SMART Domains

Protein: ENSMUSP00000105438
Gene: ENSMUSG00000057897
AA Change: E488G

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
low complexity region	320	336	N/A	INTRINSIC
Pfam:CaMKII_AD	410	537	1.4e-62	PFAM
Pfam:DUF4440	414	528	5.9e-15	PFAM
Pfam:SnoaL_3	414	539	5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109812
AA Change: E475G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000105437
Gene: ENSMUSG00000057897
AA Change: E475G

Domain	Start	End	E-Value	Type
S_TKc	14	283	5.98e-95	SMART
Pfam:CaMKII_AD	397	524	5.8e-63	PFAM
Pfam:DUF4440	401	515	3.1e-15	PFAM
Pfam:SnoaL_3	401	526	2.4e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155755

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

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. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit reversal of plasticity direction at parallel fiber-Purkinje cell synapses. Mice homozygous for a different null allele show motor impairments, including ataxia, altered body mass composition, a reduction in anxiety-related behavior, and cognitive deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,493 (GRCm39)	E966G	probably benign	Het
9330159F19Rik	T	C	10: 29,097,795 (GRCm39)	V64A	probably damaging	Het
Abcb5	G	T	12: 118,831,696 (GRCm39)	Q1219K	possibly damaging	Het
Acox2	A	T	14: 8,248,059 (GRCm38)	C408S	possibly damaging	Het
Acsf3	T	A	8: 123,506,922 (GRCm39)	Y72N	probably damaging	Het
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adam28	T	C	14: 68,886,870 (GRCm39)	E48G	possibly damaging	Het
Adgrv1	A	C	13: 81,652,232 (GRCm39)	M2957R	probably benign	Het
Adi1	C	A	12: 28,729,562 (GRCm39)	D138E	probably benign	Het
Alk	A	C	17: 72,198,032 (GRCm39)	L1228R	probably damaging	Het
Alms1	T	A	6: 85,655,485 (GRCm39)	S3344T	possibly damaging	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Arhgef2	C	T	3: 88,546,766 (GRCm39)	T545I	probably damaging	Het
Atp8a2	T	A	14: 60,243,815 (GRCm39)	N630I	possibly damaging	Het
Bcl9	G	T	3: 97,113,186 (GRCm39)	Q1090K	probably damaging	Het
Bdp1	A	G	13: 100,171,653 (GRCm39)	S2152P	probably benign	Het
Birc6	T	A	17: 74,921,385 (GRCm39)	S2155T	probably benign	Het
Capn9	T	A	8: 125,332,304 (GRCm39)		probably null	Het
Cd209f	A	G	8: 4,154,491 (GRCm39)	S119P	probably damaging	Het
Cep78	T	C	19: 15,946,533 (GRCm39)	E433G	probably damaging	Het
Chid1	G	T	7: 141,106,409 (GRCm39)		probably null	Het
Cldnd2	T	C	7: 43,092,349 (GRCm39)	S129P	possibly damaging	Het
Cobll1	A	T	2: 64,956,580 (GRCm39)	F289Y	probably damaging	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Creb3l4	G	T	3: 90,146,210 (GRCm39)	S182Y	probably benign	Het
Dgcr2	A	T	16: 17,667,584 (GRCm39)	C292S	probably damaging	Het
Dnah8	T	C	17: 31,093,901 (GRCm39)	V4665A	possibly damaging	Het
Dnah9	A	T	11: 66,009,667 (GRCm39)	M740K	probably benign	Het
Dnmt1	G	A	9: 20,829,542 (GRCm39)	T687I	probably damaging	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Echdc2	C	A	4: 108,022,732 (GRCm39)	R3S	probably damaging	Het
Ep400	A	T	5: 110,852,920 (GRCm39)	L1275Q	unknown	Het
Epha6	A	T	16: 60,026,108 (GRCm39)	W445R	probably damaging	Het
Ercc5	T	A	1: 44,220,035 (GRCm39)	S1102R	probably benign	Het
Fam228a	T	G	12: 4,765,620 (GRCm39)	T264P	probably damaging	Het
Fzd6	T	A	15: 38,897,315 (GRCm39)	I488N	probably damaging	Het
Gabrg3	T	G	7: 56,379,389 (GRCm39)	N338H	probably damaging	Het
Gde1	A	G	7: 118,294,357 (GRCm39)	F39L	possibly damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gm4781	T	A	10: 100,232,582 (GRCm39)		noncoding transcript	Het
Gm4846	T	A	1: 166,311,492 (GRCm39)	T456S	probably benign	Het
Gpx5	A	G	13: 21,471,624 (GRCm39)	I193T	probably benign	Het
H3c2	T	A	13: 23,936,715 (GRCm39)	V118D	probably damaging	Het
Herc2	A	T	7: 55,804,853 (GRCm39)	K2294*	probably null	Het
Iqgap3	T	A	3: 88,015,675 (GRCm39)	V19D	probably damaging	Het
Itga5	T	C	15: 103,254,441 (GRCm39)	I1006V	probably damaging	Het
Lamb1	C	T	12: 31,351,093 (GRCm39)	T781I	probably benign	Het
Lias	A	G	5: 65,549,686 (GRCm39)	T57A	probably benign	Het
Lin37	C	A	7: 30,256,368 (GRCm39)	R108L	probably damaging	Het
Lrrd1	A	T	5: 3,915,709 (GRCm39)	T769S	probably benign	Het
Mamstr	T	C	7: 45,294,387 (GRCm39)	W414R	probably damaging	Het
Mtmr11	T	G	3: 96,072,103 (GRCm39)	S233R	probably damaging	Het
Myh1	A	T	11: 67,095,648 (GRCm39)	I266F	probably damaging	Het
Myt1	C	A	2: 181,439,068 (GRCm39)	Q197K	probably benign	Het
Naip5	G	T	13: 100,356,195 (GRCm39)	T1140K	probably benign	Het
Ncf2	G	A	1: 152,683,822 (GRCm39)	V14M	probably damaging	Het
Ndufb11b	T	C	15: 81,865,068 (GRCm39)	V103A	probably damaging	Het
Nhsl1	G	T	10: 18,400,653 (GRCm39)	R626S	possibly damaging	Het
Nol12	T	A	15: 78,822,089 (GRCm39)	V108E	probably damaging	Het
Nr1i2	G	T	16: 38,069,644 (GRCm39)	P420Q	probably damaging	Het
Nup155	A	G	15: 8,184,464 (GRCm39)	I1286M	possibly damaging	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or4c10b	A	C	2: 89,711,629 (GRCm39)	H153P	probably damaging	Het
Or51b17	A	G	7: 103,542,592 (GRCm39)	S117P	probably damaging	Het
Or5ak23	A	G	2: 85,244,749 (GRCm39)	V158A	probably benign	Het
Pard3b	C	T	1: 62,676,763 (GRCm39)	S999L	probably benign	Het
Pax9	A	G	12: 56,746,839 (GRCm39)	E225G	probably benign	Het
Pdcd4	T	G	19: 53,914,650 (GRCm39)	L335R	probably damaging	Het
Pdgfra	T	A	5: 75,343,675 (GRCm39)	M732K	possibly damaging	Het
Pkhd1	G	T	1: 20,187,293 (GRCm39)	Q3672K	probably benign	Het
Pold2	A	G	11: 5,823,454 (GRCm39)	L325P	possibly damaging	Het
Pom121l2	A	T	13: 22,167,954 (GRCm39)	T742S	probably benign	Het
Ppfia1	C	T	7: 144,073,368 (GRCm39)	E208K	probably benign	Het
Prex2	A	T	1: 11,207,004 (GRCm39)	R521W	probably damaging	Het
Prr23a4	C	A	9: 98,785,535 (GRCm39)	R67S	probably benign	Het
Rhpn2	T	C	7: 35,071,813 (GRCm39)	L226P	probably benign	Het
Rps12	C	A	10: 23,661,527 (GRCm39)	D95Y	probably damaging	Het
Sardh	T	A	2: 27,105,194 (GRCm39)	D643V	possibly damaging	Het
Sars1	T	C	3: 108,343,260 (GRCm39)	D77G	probably benign	Het
Scin	C	A	12: 40,174,697 (GRCm39)	V129F	probably damaging	Het
Semp2l1	T	G	1: 32,584,758 (GRCm39)	D384A	probably damaging	Het
Sftpa1	T	A	14: 40,854,803 (GRCm39)	M66K	possibly damaging	Het
Sgo1	T	C	17: 53,994,799 (GRCm39)	K28E	probably damaging	Het
Sim2	G	T	16: 93,924,436 (GRCm39)		probably null	Het
Srp54b	T	A	12: 55,296,945 (GRCm39)		probably null	Het
Stard7	T	C	2: 127,137,480 (GRCm39)	V310A	probably benign	Het
Tasp1	T	C	2: 139,793,477 (GRCm39)	D233G	probably damaging	Het
Tdrd6	G	T	17: 43,936,480 (GRCm39)	L1523M	probably benign	Het
Tle3	A	G	9: 61,321,305 (GRCm39)	D639G	probably damaging	Het
Tmem128	A	G	5: 38,417,750 (GRCm39)	D2G	probably damaging	Het
Tmem163	A	G	1: 127,605,246 (GRCm39)	S41P	probably benign	Het
Ttn	C	T	2: 76,559,505 (GRCm39)	S29632N	probably damaging	Het
Tuba4a	A	G	1: 75,192,754 (GRCm39)	S287P	probably benign	Het
Ubn1	G	C	16: 4,895,255 (GRCm39)	G767A	probably benign	Het
Ugdh	A	T	5: 65,577,634 (GRCm39)	C288*	probably null	Het
Upf2	T	A	2: 6,055,135 (GRCm39)		probably null	Het
Vmn1r2	T	C	4: 3,172,836 (GRCm39)	S252P	probably damaging	Het
Vmn1r28	A	C	6: 58,242,237 (GRCm39)	T27P	probably damaging	Het
Vmn1r77	T	C	7: 11,775,338 (GRCm39)	I38T	probably benign	Het
Vmn2r51	C	A	7: 9,832,090 (GRCm39)	E499*	probably null	Het
Vmn2r51	G	T	7: 9,832,091 (GRCm39)	Y498*	probably null	Het
Vmn2r53	A	T	7: 12,334,812 (GRCm39)	W283R	probably damaging	Het
Vpreb1a	T	A	16: 16,686,933 (GRCm39)	T15S	probably benign	Het
Vps13b	T	C	15: 35,910,378 (GRCm39)	S3381P	probably damaging	Het
Wnt2	A	T	6: 18,023,234 (GRCm39)	D138E	probably damaging	Het
Zdhhc22	A	G	12: 87,030,204 (GRCm39)	V248A	probably benign	Het
Zfp30	T	A	7: 29,492,805 (GRCm39)	I434N	probably damaging	Het
Zfp316	A	G	5: 143,239,178 (GRCm39)	L947P	probably damaging	Het

Other mutations in Camk2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Camk2b	APN	11	5,922,310 (GRCm39)	missense	probably damaging	1.00
IGL01821:Camk2b	APN	11	5,947,890 (GRCm39)	missense	possibly damaging	0.92
IGL02219:Camk2b	APN	11	5,926,872 (GRCm39)	missense	possibly damaging	0.56
IGL02890:Camk2b	APN	11	5,951,340 (GRCm39)	missense	possibly damaging	0.90
R1645:Camk2b	UTSW	11	5,922,719 (GRCm39)	missense	probably damaging	1.00
R1786:Camk2b	UTSW	11	5,927,880 (GRCm39)	missense	probably benign	0.06
R2133:Camk2b	UTSW	11	5,927,880 (GRCm39)	missense	probably benign	0.06
R3828:Camk2b	UTSW	11	5,978,932 (GRCm39)	missense	probably damaging	0.99
R4283:Camk2b	UTSW	11	5,937,099 (GRCm39)	missense	probably benign	0.39
R5919:Camk2b	UTSW	11	5,929,718 (GRCm39)	missense	probably damaging	1.00
R6074:Camk2b	UTSW	11	5,939,635 (GRCm39)	missense	probably damaging	1.00
R6269:Camk2b	UTSW	11	5,928,497 (GRCm39)	missense	probably damaging	1.00
R6595:Camk2b	UTSW	11	5,942,856 (GRCm39)	missense	probably damaging	1.00
R6999:Camk2b	UTSW	11	5,922,321 (GRCm39)	missense	probably damaging	1.00
R7030:Camk2b	UTSW	11	5,939,575 (GRCm39)	missense	probably damaging	1.00
R7396:Camk2b	UTSW	11	5,928,432 (GRCm39)	missense	probably benign
R7798:Camk2b	UTSW	11	5,928,399 (GRCm39)	missense	probably benign	0.08
R7818:Camk2b	UTSW	11	5,927,812 (GRCm39)	missense	probably benign
R8342:Camk2b	UTSW	11	5,940,383 (GRCm39)	missense	probably benign	0.21
R8388:Camk2b	UTSW	11	5,939,026 (GRCm39)	missense	probably damaging	1.00
R8850:Camk2b	UTSW	11	5,922,838 (GRCm39)	missense	probably damaging	1.00
R9180:Camk2b	UTSW	11	5,939,332 (GRCm39)	nonsense	probably null
R9319:Camk2b	UTSW	11	5,927,814 (GRCm39)	missense	probably benign
R9493:Camk2b	UTSW	11	5,929,711 (GRCm39)	missense	probably damaging	1.00
R9725:Camk2b	UTSW	11	5,922,634 (GRCm39)	missense	possibly damaging	0.83
R9800:Camk2b	UTSW	11	5,922,408 (GRCm39)	missense	probably damaging	0.97
RF023:Camk2b	UTSW	11	5,922,301 (GRCm39)	missense	probably damaging	0.96
Z1176:Camk2b	UTSW	11	5,927,940 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- TGACGACCAACTCCATTGC -3'
(R):5'- ATCAGTCAGTGGGAGTCGTG -3'

Sequencing Primer
(F):5'- ATTGCTGACCCGCCAAG -3'
(R):5'- AGTGGGAGTCGTGGCAGC -3'

Posted On

2014-06-23