Incidental Mutation 'R0541:Camta2'
ID 49926
Institutional Source Beutler Lab
Gene Symbol Camta2
Ensembl Gene ENSMUSG00000040712
Gene Name calmodulin binding transcription activator 2
Synonyms Kiaa0909-hp
MMRRC Submission 038733-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.496) question?
Stock # R0541 (G1)
Quality Score 183
Status Validated
Chromosome 11
Chromosomal Location 70560289-70578931 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70572447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 259 (L259P)
Ref Sequence ENSEMBL: ENSMUSP00000104185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036299] [ENSMUST00000100933] [ENSMUST00000108544] [ENSMUST00000108545] [ENSMUST00000119120] [ENSMUST00000120261] [ENSMUST00000145823]
AlphaFold Q80Y50
Predicted Effect probably benign
Transcript: ENSMUST00000036299
AA Change: L288P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000043792
Gene: ENSMUSG00000040712
AA Change: L288P

DomainStartEndE-ValueType
CG-1 34 155 1.07e-83 SMART
low complexity region 232 243 N/A INTRINSIC
low complexity region 273 291 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
low complexity region 314 329 N/A INTRINSIC
low complexity region 370 380 N/A INTRINSIC
low complexity region 417 435 N/A INTRINSIC
low complexity region 461 485 N/A INTRINSIC
low complexity region 501 514 N/A INTRINSIC
Pfam:TIG 541 621 6.2e-13 PFAM
low complexity region 660 679 N/A INTRINSIC
Blast:ANK 717 750 7e-12 BLAST
SCOP:d1myo__ 718 816 2e-15 SMART
Blast:ANK 762 792 4e-11 BLAST
low complexity region 829 839 N/A INTRINSIC
low complexity region 844 853 N/A INTRINSIC
low complexity region 861 882 N/A INTRINSIC
IQ 1053 1075 2.59e2 SMART
IQ 1076 1092 2.38e2 SMART
IQ 1106 1128 5.42e0 SMART
low complexity region 1140 1157 N/A INTRINSIC
low complexity region 1180 1190 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100933
AA Change: L285P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000098493
Gene: ENSMUSG00000040712
AA Change: L285P

DomainStartEndE-ValueType
CG-1 36 152 8.08e-88 SMART
low complexity region 229 240 N/A INTRINSIC
low complexity region 270 288 N/A INTRINSIC
low complexity region 291 302 N/A INTRINSIC
low complexity region 311 326 N/A INTRINSIC
low complexity region 367 377 N/A INTRINSIC
low complexity region 414 432 N/A INTRINSIC
low complexity region 458 482 N/A INTRINSIC
low complexity region 498 511 N/A INTRINSIC
Pfam:TIG 538 618 1.2e-8 PFAM
low complexity region 657 676 N/A INTRINSIC
Blast:ANK 714 747 8e-12 BLAST
SCOP:d1myo__ 715 813 2e-15 SMART
Blast:ANK 759 789 4e-11 BLAST
low complexity region 826 836 N/A INTRINSIC
low complexity region 841 850 N/A INTRINSIC
low complexity region 858 879 N/A INTRINSIC
IQ 1050 1072 2.59e2 SMART
IQ 1073 1095 1.18e1 SMART
IQ 1096 1118 5.42e0 SMART
low complexity region 1130 1147 N/A INTRINSIC
low complexity region 1170 1180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108544
AA Change: L283P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104184
Gene: ENSMUSG00000040712
AA Change: L283P

DomainStartEndE-ValueType
CG-1 34 150 8.08e-88 SMART
low complexity region 227 238 N/A INTRINSIC
low complexity region 268 286 N/A INTRINSIC
low complexity region 289 300 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
low complexity region 365 375 N/A INTRINSIC
low complexity region 412 430 N/A INTRINSIC
low complexity region 456 480 N/A INTRINSIC
low complexity region 496 509 N/A INTRINSIC
Pfam:TIG 536 616 1.2e-8 PFAM
low complexity region 655 674 N/A INTRINSIC
Blast:ANK 712 745 7e-12 BLAST
SCOP:d1myo__ 713 811 2e-15 SMART
Blast:ANK 757 787 4e-11 BLAST
low complexity region 824 834 N/A INTRINSIC
low complexity region 839 848 N/A INTRINSIC
low complexity region 856 877 N/A INTRINSIC
IQ 1048 1070 2.59e2 SMART
IQ 1071 1087 2.38e2 SMART
IQ 1101 1123 5.42e0 SMART
low complexity region 1135 1152 N/A INTRINSIC
low complexity region 1175 1185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108545
AA Change: L259P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104185
Gene: ENSMUSG00000040712
AA Change: L259P

DomainStartEndE-ValueType
CG-1 34 126 3.23e-55 SMART
low complexity region 203 214 N/A INTRINSIC
low complexity region 244 262 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
low complexity region 285 300 N/A INTRINSIC
low complexity region 341 351 N/A INTRINSIC
low complexity region 388 406 N/A INTRINSIC
low complexity region 432 456 N/A INTRINSIC
low complexity region 472 485 N/A INTRINSIC
Pfam:TIG 512 592 1.1e-8 PFAM
low complexity region 631 650 N/A INTRINSIC
Blast:ANK 688 721 7e-12 BLAST
SCOP:d1myo__ 689 787 2e-15 SMART
Blast:ANK 733 763 5e-13 BLAST
low complexity region 800 810 N/A INTRINSIC
low complexity region 815 824 N/A INTRINSIC
low complexity region 832 853 N/A INTRINSIC
IQ 1024 1046 2.59e2 SMART
IQ 1047 1069 1.18e1 SMART
IQ 1070 1092 5.42e0 SMART
low complexity region 1104 1121 N/A INTRINSIC
low complexity region 1144 1154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119120
AA Change: L283P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113847
Gene: ENSMUSG00000040712
AA Change: L283P

DomainStartEndE-ValueType
CG-1 34 150 8.08e-88 SMART
low complexity region 227 238 N/A INTRINSIC
low complexity region 268 286 N/A INTRINSIC
low complexity region 289 300 N/A INTRINSIC
low complexity region 309 324 N/A INTRINSIC
low complexity region 365 375 N/A INTRINSIC
low complexity region 412 430 N/A INTRINSIC
low complexity region 456 480 N/A INTRINSIC
low complexity region 496 509 N/A INTRINSIC
Pfam:TIG 536 616 1.1e-8 PFAM
low complexity region 655 674 N/A INTRINSIC
Blast:ANK 712 745 7e-12 BLAST
SCOP:d1myo__ 713 811 2e-15 SMART
Blast:ANK 757 787 8e-13 BLAST
low complexity region 824 834 N/A INTRINSIC
low complexity region 839 848 N/A INTRINSIC
low complexity region 856 877 N/A INTRINSIC
IQ 1048 1070 2.59e2 SMART
IQ 1071 1093 1.18e1 SMART
IQ 1094 1116 5.42e0 SMART
low complexity region 1128 1145 N/A INTRINSIC
low complexity region 1168 1178 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120261
AA Change: L259P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113667
Gene: ENSMUSG00000040712
AA Change: L259P

DomainStartEndE-ValueType
CG-1 34 126 3.23e-55 SMART
low complexity region 203 214 N/A INTRINSIC
low complexity region 244 262 N/A INTRINSIC
low complexity region 265 276 N/A INTRINSIC
low complexity region 285 300 N/A INTRINSIC
low complexity region 341 351 N/A INTRINSIC
low complexity region 388 406 N/A INTRINSIC
low complexity region 432 456 N/A INTRINSIC
low complexity region 472 485 N/A INTRINSIC
Pfam:TIG 512 592 1e-8 PFAM
low complexity region 631 650 N/A INTRINSIC
Blast:ANK 688 721 7e-12 BLAST
SCOP:d1myo__ 689 787 2e-15 SMART
Blast:ANK 733 763 7e-13 BLAST
low complexity region 800 810 N/A INTRINSIC
low complexity region 815 824 N/A INTRINSIC
low complexity region 832 853 N/A INTRINSIC
IQ 1024 1046 2.59e2 SMART
IQ 1047 1063 2.38e2 SMART
IQ 1077 1099 5.42e0 SMART
low complexity region 1111 1128 N/A INTRINSIC
low complexity region 1151 1161 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150224
Predicted Effect probably benign
Transcript: ENSMUST00000145823
SMART Domains Protein: ENSMUSP00000123602
Gene: ENSMUSG00000040712

DomainStartEndE-ValueType
CG-1 34 137 2.55e-44 SMART
low complexity region 146 165 N/A INTRINSIC
Meta Mutation Damage Score 0.0685 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 96% (64/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and free of obvious cardiac defects, but show reduced pathophysiologic cardiac hypertrophy in response to diverse stress stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,872 (GRCm39) M115V probably benign Het
4933415A04Rik TTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT TTGTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,478,227 (GRCm39) probably null Het
Abca7 C T 10: 79,843,185 (GRCm39) A1220V probably benign Het
Adamts19 G A 18: 59,060,372 (GRCm39) probably null Het
Agbl1 G A 7: 76,058,993 (GRCm39) V194M probably benign Het
Arhgap20 G T 9: 51,760,963 (GRCm39) S902I probably damaging Het
Atp11b T G 3: 35,861,093 (GRCm39) D193E probably damaging Het
B3gntl1 A T 11: 121,535,430 (GRCm39) probably benign Het
C2cd2 T C 16: 97,723,496 (GRCm39) E7G possibly damaging Het
Ccni T C 5: 93,335,563 (GRCm39) N192D probably benign Het
Cgnl1 A G 9: 71,558,535 (GRCm39) I946T possibly damaging Het
Chil3 T C 3: 106,068,548 (GRCm39) probably null Het
Cntn5 A G 9: 9,673,407 (GRCm39) probably benign Het
Cpn2 C T 16: 30,078,169 (GRCm39) G511S possibly damaging Het
Dagla C A 19: 10,232,170 (GRCm39) probably null Het
Dcc T C 18: 71,392,086 (GRCm39) N1440S probably damaging Het
Drosha T A 15: 12,907,474 (GRCm39) N1069K probably benign Het
Edc4 A G 8: 106,616,060 (GRCm39) T812A probably benign Het
Eml4 A G 17: 83,747,471 (GRCm39) I238V probably benign Het
Ep400 T C 5: 110,852,882 (GRCm39) T1288A unknown Het
Fastkd1 A C 2: 69,532,750 (GRCm39) L539R probably damaging Het
Fbln7 G A 2: 128,719,454 (GRCm39) probably benign Het
Fbxo39 A G 11: 72,209,297 (GRCm39) I386V probably benign Het
Gm17430 T C 18: 9,726,267 (GRCm39) K135R probably damaging Het
Gm3646 T A 1: 39,843,483 (GRCm39) T8S unknown Het
Gtsf1 A T 15: 103,329,619 (GRCm39) V100E possibly damaging Het
Helz2 A G 2: 180,876,618 (GRCm39) F1292S possibly damaging Het
Igf2bp3 G A 6: 49,084,401 (GRCm39) probably benign Het
Ip6k2 T G 9: 108,681,826 (GRCm39) D252E probably damaging Het
Iqck T A 7: 118,514,817 (GRCm39) L232Q probably damaging Het
Kif18b A G 11: 102,806,001 (GRCm39) V186A probably damaging Het
Klhl6 T A 16: 19,768,197 (GRCm39) probably null Het
Lao1 C T 4: 118,820,999 (GRCm39) T75I probably benign Het
Lyst T C 13: 13,855,878 (GRCm39) F2400L probably benign Het
Map3k9 A T 12: 81,780,997 (GRCm39) S388T possibly damaging Het
Mmp11 G T 10: 75,762,767 (GRCm39) H229N probably damaging Het
Myh7 T G 14: 55,212,158 (GRCm39) I1529L probably benign Het
Nckap5 G T 1: 126,623,459 (GRCm39) D11E possibly damaging Het
Ncoa1 A T 12: 4,373,033 (GRCm39) F123I probably damaging Het
Nelfb A T 2: 25,093,992 (GRCm39) D385E probably benign Het
Obscn C T 11: 58,972,810 (GRCm39) V2288M probably damaging Het
Or2f1b A G 6: 42,739,154 (GRCm39) H56R probably damaging Het
Or4d6 C T 19: 12,086,884 (GRCm39) V9M possibly damaging Het
Or52x1 A T 7: 104,853,367 (GRCm39) M61K probably damaging Het
Or5b12b A G 19: 12,861,458 (GRCm39) Y71C probably damaging Het
Otog T A 7: 45,918,673 (GRCm39) probably benign Het
Oxa1l A G 14: 54,605,646 (GRCm39) E375G possibly damaging Het
Pan2 T A 10: 128,144,091 (GRCm39) I129K possibly damaging Het
Parp1 A G 1: 180,426,616 (GRCm39) I919M probably benign Het
Pnpla7 T C 2: 24,885,305 (GRCm39) Y174H probably damaging Het
Polr3b T C 10: 84,473,928 (GRCm39) F169S probably damaging Het
Rab10 T C 12: 3,314,743 (GRCm39) D45G probably damaging Het
Reln A G 5: 22,185,107 (GRCm39) S1537P possibly damaging Het
Sema6d T A 2: 124,507,197 (GRCm39) S1045T probably benign Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Spidr T A 16: 15,733,229 (GRCm39) I589F probably damaging Het
Stmn4 A C 14: 66,595,388 (GRCm39) I165L probably benign Het
Stx5a T C 19: 8,727,301 (GRCm39) M177T probably damaging Het
Tll1 T C 8: 64,491,486 (GRCm39) probably null Het
Tmem192 T C 8: 65,416,912 (GRCm39) Y168H probably damaging Het
Ttc21a C T 9: 119,785,892 (GRCm39) probably benign Het
Ush2a A G 1: 188,446,663 (GRCm39) probably benign Het
Vezf1 A G 11: 87,972,403 (GRCm39) M255V possibly damaging Het
Vmn2r25 A G 6: 123,816,786 (GRCm39) F265S probably damaging Het
Vps13a A G 19: 16,681,941 (GRCm39) S1021P probably benign Het
Wfdc16 T C 2: 164,477,773 (GRCm39) E92G possibly damaging Het
Zkscan2 T C 7: 123,079,423 (GRCm39) T845A possibly damaging Het
Other mutations in Camta2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01022:Camta2 APN 11 70,562,308 (GRCm39) nonsense probably null
IGL01472:Camta2 APN 11 70,574,950 (GRCm39) missense probably damaging 1.00
IGL02548:Camta2 APN 11 70,561,511 (GRCm39) missense probably damaging 1.00
IGL02794:Camta2 APN 11 70,566,484 (GRCm39) missense possibly damaging 0.94
IGL02983:Camta2 APN 11 70,562,848 (GRCm39) missense probably damaging 0.99
IGL03035:Camta2 APN 11 70,562,335 (GRCm39) nonsense probably null
weeping UTSW 11 70,574,134 (GRCm39) missense probably damaging 1.00
Willow UTSW 11 70,569,151 (GRCm39) missense probably damaging 1.00
P0027:Camta2 UTSW 11 70,574,831 (GRCm39) missense probably damaging 1.00
R0360:Camta2 UTSW 11 70,574,136 (GRCm39) missense probably damaging 1.00
R0364:Camta2 UTSW 11 70,574,136 (GRCm39) missense probably damaging 1.00
R0600:Camta2 UTSW 11 70,564,785 (GRCm39) missense possibly damaging 0.94
R0630:Camta2 UTSW 11 70,569,131 (GRCm39) missense probably damaging 1.00
R1301:Camta2 UTSW 11 70,567,230 (GRCm39) missense probably benign 0.18
R1346:Camta2 UTSW 11 70,567,293 (GRCm39) missense possibly damaging 0.89
R1826:Camta2 UTSW 11 70,574,134 (GRCm39) missense probably damaging 1.00
R1881:Camta2 UTSW 11 70,562,842 (GRCm39) missense probably benign 0.00
R1980:Camta2 UTSW 11 70,573,308 (GRCm39) missense probably benign 0.43
R2144:Camta2 UTSW 11 70,562,401 (GRCm39) missense probably benign 0.31
R2145:Camta2 UTSW 11 70,562,401 (GRCm39) missense probably benign 0.31
R2763:Camta2 UTSW 11 70,573,356 (GRCm39) nonsense probably null
R2881:Camta2 UTSW 11 70,570,490 (GRCm39) splice site probably null
R2917:Camta2 UTSW 11 70,571,787 (GRCm39) missense probably damaging 1.00
R4115:Camta2 UTSW 11 70,567,300 (GRCm39) missense possibly damaging 0.93
R4321:Camta2 UTSW 11 70,569,151 (GRCm39) missense probably damaging 1.00
R4470:Camta2 UTSW 11 70,571,766 (GRCm39) missense probably damaging 1.00
R4499:Camta2 UTSW 11 70,565,512 (GRCm39) missense probably damaging 1.00
R4509:Camta2 UTSW 11 70,571,844 (GRCm39) missense probably benign 0.28
R6154:Camta2 UTSW 11 70,569,211 (GRCm39) missense probably damaging 1.00
R6166:Camta2 UTSW 11 70,565,087 (GRCm39) splice site probably null
R6287:Camta2 UTSW 11 70,572,295 (GRCm39) missense probably damaging 0.98
R6382:Camta2 UTSW 11 70,562,867 (GRCm39) missense probably damaging 0.99
R6864:Camta2 UTSW 11 70,562,792 (GRCm39) missense probably benign 0.00
R6922:Camta2 UTSW 11 70,564,964 (GRCm39) missense probably benign 0.04
R7438:Camta2 UTSW 11 70,574,714 (GRCm39) critical splice donor site probably null
R7611:Camta2 UTSW 11 70,572,372 (GRCm39) missense possibly damaging 0.85
R7883:Camta2 UTSW 11 70,566,037 (GRCm39) missense probably damaging 1.00
R8094:Camta2 UTSW 11 70,576,903 (GRCm39) missense probably damaging 1.00
R8232:Camta2 UTSW 11 70,573,841 (GRCm39) missense unknown
R8271:Camta2 UTSW 11 70,561,886 (GRCm39) missense probably benign 0.05
R8973:Camta2 UTSW 11 70,561,184 (GRCm39) missense probably benign 0.05
R9072:Camta2 UTSW 11 70,567,234 (GRCm39) missense probably benign 0.21
T0722:Camta2 UTSW 11 70,574,831 (GRCm39) missense probably damaging 1.00
X0066:Camta2 UTSW 11 70,572,504 (GRCm39) missense probably benign 0.08
Z1177:Camta2 UTSW 11 70,566,047 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGCTCTAGTCCTGTTAGGAGGAGG -3'
(R):5'- GGGGAGACCCACTTTTGATGCC -3'

Sequencing Primer
(F):5'- GATAGCAGTGCCTCCTCTTGATG -3'
(R):5'- tgtgtgtgcgtctctttGTG -3'
Posted On 2013-06-12