Incidental Mutation 'IGL00539:Camk2b'
ID 13336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camk2b
Ensembl Gene ENSMUSG00000057897
Gene Name calcium/calmodulin-dependent protein kinase II, beta
Synonyms CaMK II
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # IGL00539
Quality Score
Status
Chromosome 11
Chromosomal Location 5919644-6016362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5922310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 560 (S560P)
Ref Sequence ENSEMBL: ENSMUSP00000091046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002817] [ENSMUST00000002818] [ENSMUST00000019133] [ENSMUST00000066431] [ENSMUST00000090443] [ENSMUST00000093355] [ENSMUST00000101586] [ENSMUST00000109815] [ENSMUST00000109812] [ENSMUST00000101585] [ENSMUST00000109813]
AlphaFold P28652
Predicted Effect probably damaging
Transcript: ENSMUST00000002817
AA Change: S474P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002817
Gene: ENSMUSG00000057897
AA Change: S474P

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 probably damaging
Transcript: ENSMUST00000019133
AA Change: S637P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019133
Gene: ENSMUSG00000057897
AA Change: S637P

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 damaging
Transcript: ENSMUST00000066431
AA Change: S450P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065101
Gene: ENSMUSG00000057897
AA Change: S450P

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 damaging
Transcript: ENSMUST00000090443
AA Change: S516P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087925
Gene: ENSMUSG00000057897
AA Change: S516P

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 damaging
Transcript: ENSMUST00000093355
AA Change: S560P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091046
Gene: ENSMUSG00000057897
AA Change: S560P

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 probably damaging
Transcript: ENSMUST00000101586
AA Change: S489P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099120
Gene: ENSMUSG00000057897
AA Change: S489P

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 damaging
Transcript: ENSMUST00000109815
AA Change: S513P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105440
Gene: ENSMUSG00000057897
AA Change: S513P

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 damaging
Transcript: ENSMUST00000109812
AA Change: S500P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105437
Gene: ENSMUSG00000057897
AA Change: S500P

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 probably damaging
Transcript: ENSMUST00000101585
AA Change: S489P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099119
Gene: ENSMUSG00000057897
AA Change: S489P

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 damaging
Transcript: ENSMUST00000109813
AA Change: S513P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105438
Gene: ENSMUSG00000057897
AA Change: S513P

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 noncoding transcript
Transcript: ENSMUST00000155755
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C A 19: 8,985,272 (GRCm39) D2185E possibly damaging Het
Cdh13 C A 8: 120,039,245 (GRCm39) N562K possibly damaging Het
Cdhr4 A G 9: 107,876,744 (GRCm39) Y771C probably damaging Het
Ermap A G 4: 119,041,114 (GRCm39) S299P probably damaging Het
Fgd3 A G 13: 49,429,119 (GRCm39) probably benign Het
Fpr-rs4 T A 17: 18,242,188 (GRCm39) L65Q probably damaging Het
Hsph1 C T 5: 149,542,254 (GRCm39) R723H possibly damaging Het
Iqcb1 A G 16: 36,678,873 (GRCm39) K396E probably damaging Het
Kif21a T C 15: 90,821,504 (GRCm39) T1424A probably damaging Het
Mpdz T C 4: 81,279,588 (GRCm39) S700G possibly damaging Het
Mta3 G A 17: 84,070,412 (GRCm39) R39Q probably benign Het
Muc4 A T 16: 32,569,728 (GRCm39) T263S possibly damaging Het
Ncan G A 8: 70,567,921 (GRCm39) P64S probably benign Het
Pisd T C 5: 32,895,756 (GRCm39) I441V probably benign Het
Pla2g4f T C 2: 120,133,219 (GRCm39) H660R possibly damaging Het
Polq A G 16: 36,880,931 (GRCm39) T753A probably damaging Het
Ptchd4 C T 17: 42,627,817 (GRCm39) Q93* probably null Het
Sfpq T C 4: 126,917,481 (GRCm39) V437A possibly damaging Het
Slc18b1 G A 10: 23,700,659 (GRCm39) probably null Het
Taf1c C T 8: 120,328,067 (GRCm39) V277I possibly damaging Het
Tcf20 T A 15: 82,736,957 (GRCm39) Q1498L probably benign Het
Tet1 C A 10: 62,650,276 (GRCm39) C1644F probably damaging Het
Trmt5 T C 12: 73,331,693 (GRCm39) E121G possibly damaging Het
Wapl A G 14: 34,416,965 (GRCm39) D525G probably damaging Het
Ylpm1 A G 12: 85,075,728 (GRCm39) T360A possibly damaging Het
Zfp292 G A 4: 34,808,790 (GRCm39) P1418L probably damaging Het
Other mutations in Camk2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06