Incidental Mutation 'R9725:Camk2b'
ID 730995
Institutional Source Beutler Lab
Gene Symbol Camk2b
Ensembl Gene ENSMUSG00000057897
Gene Name calcium/calmodulin-dependent protein kinase II, beta
Synonyms CaMK II
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R9725 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 5919644-6016362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5922634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 465 (N465S)
Ref Sequence ENSEMBL: ENSMUSP00000105438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002817] [ENSMUST00000002818] [ENSMUST00000019133] [ENSMUST00000066431] [ENSMUST00000090443] [ENSMUST00000093355] [ENSMUST00000109813] [ENSMUST00000101585] [ENSMUST00000101586] [ENSMUST00000109812] [ENSMUST00000109815]
AlphaFold P28652
Predicted Effect probably damaging
Transcript: ENSMUST00000002817
AA Change: N426S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002817
Gene: ENSMUSG00000057897
AA Change: N426S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 25 39 N/A INTRINSIC
Longin 43 139 1.36e-21 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000019133
AA Change: N589S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000019133
Gene: ENSMUSG00000057897
AA Change: N589S

DomainStartEndE-ValueType
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: N402S

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000065101
Gene: ENSMUSG00000057897
AA Change: N402S

DomainStartEndE-ValueType
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: N468S

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000087925
Gene: ENSMUSG00000057897
AA Change: N468S

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000093355
AA Change: N512S

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000091046
Gene: ENSMUSG00000057897
AA Change: N512S

DomainStartEndE-ValueType
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: ENSMUST00000109813
AA Change: N465S

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105438
Gene: ENSMUSG00000057897
AA Change: N465S

DomainStartEndE-ValueType
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: ENSMUST00000101585
AA Change: N441S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099119
Gene: ENSMUSG00000057897
AA Change: N441S

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000101586
AA Change: N441S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099120
Gene: ENSMUSG00000057897
AA Change: N441S

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000109812
AA Change: N452S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105437
Gene: ENSMUSG00000057897
AA Change: N452S

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000109815
AA Change: N465S

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105440
Gene: ENSMUSG00000057897
AA Change: N465S

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T G 16: 14,290,797 (GRCm39) I1469S possibly damaging Het
Aff1 A T 5: 103,994,931 (GRCm39) D1043V probably damaging Het
Ahnak T A 19: 8,991,607 (GRCm39) I4297N probably damaging Het
Ahnak A G 19: 8,981,533 (GRCm39) N939S probably benign Het
Carns1 A G 19: 4,216,548 (GRCm39) S545P probably damaging Het
Cdh23 T A 10: 60,432,561 (GRCm39) Q121L probably benign Het
Cfap221 G T 1: 119,862,352 (GRCm39) Q577K probably benign Het
Dlg1 T G 16: 31,665,683 (GRCm39) L680R probably benign Het
Fahd2a T C 2: 127,278,304 (GRCm39) E301G probably benign Het
Fn3k T A 11: 121,341,191 (GRCm39) L282H probably damaging Het
Fubp1 T A 3: 151,927,823 (GRCm39) I424N probably damaging Het
Gkn1 A G 6: 87,323,289 (GRCm39) S175P probably damaging Het
Gm12695 A G 4: 96,616,466 (GRCm39) S456P probably damaging Het
Kcna5 T C 6: 126,511,844 (GRCm39) T95A probably benign Het
Kcnj13 G T 1: 87,314,737 (GRCm39) T83K probably benign Het
Kif19b G A 5: 140,460,651 (GRCm39) R439H probably benign Het
Klra10 C T 6: 130,252,849 (GRCm39) G142R probably benign Het
Krt14 T C 11: 100,097,902 (GRCm39) N127S probably damaging Het
Layn T C 9: 50,968,775 (GRCm39) M323V probably benign Het
Lrrd1 A G 5: 3,901,147 (GRCm39) D484G probably benign Het
Lrrtm2 A G 18: 35,345,788 (GRCm39) C505R probably damaging Het
Ms4a14 A T 19: 11,280,729 (GRCm39) S610T probably benign Het
Myo5b A G 18: 74,856,841 (GRCm39) N1282S probably benign Het
Naip5 A T 13: 100,358,784 (GRCm39) D817E possibly damaging Het
Ndufs2 A G 1: 171,074,629 (GRCm39) L10P possibly damaging Het
Nxn T C 11: 76,169,362 (GRCm39) D139G probably damaging Het
Or3a1b A G 11: 74,012,612 (GRCm39) T166A probably benign Het
Or5b105 G A 19: 13,080,272 (GRCm39) T132I possibly damaging Het
Or6aa1 A C 7: 86,043,973 (GRCm39) H244Q probably damaging Het
Pcdhb22 G T 18: 37,652,794 (GRCm39) V164F probably damaging Het
Plch2 T C 4: 155,084,992 (GRCm39) T417A probably damaging Het
Prcp G T 7: 92,567,035 (GRCm39) probably null Het
Rasgrp2 A G 19: 6,454,694 (GRCm39) Y178C probably damaging Het
Rasgrp2 A G 19: 6,463,907 (GRCm39) N535S probably benign Het
Rgs20 G T 1: 4,980,793 (GRCm39) Y208* probably null Het
Slc39a10 A G 1: 46,849,223 (GRCm39) C798R probably damaging Het
Slco2b1 A G 7: 99,335,265 (GRCm39) S172P probably benign Het
Styk1 GTCTCTTCATGATT GT 6: 131,278,610 (GRCm39) probably benign Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Tmc2 T A 2: 130,089,881 (GRCm39) I622N probably damaging Het
Trav16n A G 14: 53,588,559 (GRCm39) S5G probably benign Het
Tti1 C T 2: 157,849,304 (GRCm39) R645H probably benign Het
Ttll3 A G 6: 113,386,114 (GRCm39) D649G probably damaging Het
Vcam1 C T 3: 115,922,287 (GRCm39) V79I possibly damaging Het
Vmn1r211 T C 13: 23,036,506 (GRCm39) I54V probably benign Het
Vmn1r238 A G 18: 3,122,577 (GRCm39) F279S probably benign Het
Vps33a A T 5: 123,669,135 (GRCm39) W589R possibly damaging Het
Zic1 A G 9: 91,246,875 (GRCm39) S66P probably damaging Het
Other mutations in Camk2b
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1836:Camk2b UTSW 11 5,922,384 (GRCm39) missense probably damaging 1.00
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
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'- TCTTGGCCAGCACTGTGAAC -3'
(R):5'- TCAACAATGGGGACTTTGAGGC -3'

Sequencing Primer
(F):5'- CTGTGAACAAGCAGGCTTTC -3'
(R):5'- AGGCCTATGCGTGAGTCTC -3'
Posted On 2022-10-06