Incidental Mutation 'R0076:Cask'
ID16878
Institutional Source Beutler Lab
Gene Symbol Cask
Ensembl Gene ENSMUSG00000031012
Gene Namecalcium/calmodulin-dependent serine protein kinase (MAGUK family)
SynonymsPals3, DXRib1, LIN-2, mLin-2, DXPri1
MMRRC Submission 038363-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R0076 (G1)
Quality Score
Status Validated
ChromosomeX
Chromosomal Location13517080-13851367 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 13678274 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033321] [ENSMUST00000115436] [ENSMUST00000115438] [ENSMUST00000124710] [ENSMUST00000156096]
Predicted Effect probably benign
Transcript: ENSMUST00000033321
SMART Domains Protein: ENSMUSP00000033321
Gene: ENSMUSG00000031012

DomainStartEndE-ValueType
S_TKc 12 276 1.22e-100 SMART
L27 340 395 8.68e-14 SMART
L27 399 452 1.67e-15 SMART
PDZ 493 565 4.01e-14 SMART
SH3 597 663 1.75e-12 SMART
low complexity region 685 697 N/A INTRINSIC
GuKc 720 896 7.41e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115436
SMART Domains Protein: ENSMUSP00000111096
Gene: ENSMUSG00000031012

DomainStartEndE-ValueType
S_TKc 12 276 1.22e-100 SMART
L27 340 395 8.68e-14 SMART
L27 399 452 1.67e-15 SMART
PDZ 493 565 4.01e-14 SMART
SH3 586 652 1.75e-12 SMART
low complexity region 674 686 N/A INTRINSIC
GuKc 709 885 7.41e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115438
SMART Domains Protein: ENSMUSP00000111098
Gene: ENSMUSG00000031012

DomainStartEndE-ValueType
S_TKc 12 276 1.22e-100 SMART
L27 340 395 8.68e-14 SMART
L27 399 452 1.67e-15 SMART
PDZ 493 565 4.01e-14 SMART
SH3 609 675 1.75e-12 SMART
low complexity region 697 709 N/A INTRINSIC
GuKc 732 908 7.41e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124710
SMART Domains Protein: ENSMUSP00000119584
Gene: ENSMUSG00000031012

DomainStartEndE-ValueType
Pfam:Pkinase 12 155 9.7e-33 PFAM
Pfam:Pkinase_Tyr 12 155 6.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128012
SMART Domains Protein: ENSMUSP00000114187
Gene: ENSMUSG00000031012

DomainStartEndE-ValueType
Pfam:Pkinase 1 137 1.1e-32 PFAM
Pfam:Pkinase_Tyr 2 134 2.3e-10 PFAM
L27 207 249 1.81e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152358
Predicted Effect probably benign
Transcript: ENSMUST00000156096
SMART Domains Protein: ENSMUSP00000120299
Gene: ENSMUSG00000031012

DomainStartEndE-ValueType
S_TKc 1 250 2.71e-84 SMART
L27 314 369 8.68e-14 SMART
L27 373 426 1.67e-15 SMART
PDZ 467 539 4.01e-14 SMART
SH3 560 626 1.75e-12 SMART
low complexity region 648 660 N/A INTRINSIC
GuKc 683 859 7.41e-78 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 87.5%
  • 10x: 81.6%
  • 20x: 72.8%
Validation Efficiency 92% (83/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mutation of this gene results in cleft palate and perinatal lethality in hemizygous males and death within 2 weeks in females on a C57BL/6J background. Some female animals on a CD1 background survive to adulthood exhibiting patchy fur, wrinkled skin, a kinked tail and spine, and give birth to small and infrequent litters. Male and female animals on all genetic backgrounds exhibit reduced head size, shortened jaw, and a pointed snout. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 120,373,685 probably benign Het
Acpp A G 9: 104,324,218 probably benign Het
Ada T A 2: 163,727,603 probably benign Het
Ankrd17 T A 5: 90,244,406 K1693* probably null Het
Arhgef38 T A 3: 133,160,746 H210L possibly damaging Het
Car10 G A 11: 93,490,597 E129K possibly damaging Het
Cd19 T C 7: 126,410,862 D406G probably damaging Het
Cd93 T C 2: 148,442,136 D430G probably benign Het
Cds1 T C 5: 101,817,840 probably benign Het
Cerkl A T 2: 79,343,289 S259T possibly damaging Het
Cog8 T C 8: 107,054,133 I164M possibly damaging Het
Col4a1 G A 8: 11,218,713 P1009L probably damaging Het
Col9a1 G A 1: 24,237,497 probably null Het
Dcc G A 18: 71,321,046 Q1241* probably null Het
Dock3 A C 9: 106,911,486 probably benign Het
Dus1l A T 11: 120,792,808 probably benign Het
Dvl2 G A 11: 70,008,100 E438K probably damaging Het
Eif3g A G 9: 20,897,753 F85S probably damaging Het
Fam234b A G 6: 135,227,226 M456V probably benign Het
Fbxo47 G A 11: 97,857,655 probably benign Het
Fyb2 A G 4: 104,945,464 T188A possibly damaging Het
Gm11437 T C 11: 84,148,636 T288A possibly damaging Het
Gm5546 T A 3: 104,353,132 noncoding transcript Het
Gmfb C A 14: 46,817,455 A11S probably benign Het
Gpat4 G A 8: 23,190,705 probably benign Het
Ifitm6 T A 7: 141,016,007 R124S possibly damaging Het
Il17rd T A 14: 27,094,854 L172Q probably damaging Het
Il4 A T 11: 53,613,914 L13Q probably damaging Het
Kif2b A G 11: 91,575,909 M516T probably damaging Het
Kmt2a A G 9: 44,830,059 probably benign Het
Maats1 G A 16: 38,302,684 Q661* probably null Het
Mark1-ps1 T A 17: 53,947,877 noncoding transcript Het
Mndal G T 1: 173,874,447 C96* probably null Het
Mroh1 T C 15: 76,451,140 S1365P probably benign Het
Mrpl12 A G 11: 120,485,442 probably benign Het
Mthfsd C A 8: 121,098,739 V270F probably benign Het
Nbas T A 12: 13,324,336 V555D probably damaging Het
Pcdhb16 T C 18: 37,478,359 V124A probably damaging Het
Pla2g10 T A 16: 13,715,518 Y131F possibly damaging Het
Plec T C 15: 76,191,414 probably benign Het
Polr2b T A 5: 77,326,561 V415E possibly damaging Het
Pou6f1 G A 15: 100,587,836 Q106* probably null Het
Ptprd T C 4: 75,947,039 probably benign Het
Rad54b G A 4: 11,609,480 probably benign Het
Rspo1 G A 4: 124,991,397 R22Q probably benign Het
Scn7a A G 2: 66,714,037 V370A probably benign Het
Sec1 A G 7: 45,678,891 V244A probably damaging Het
Serac1 A G 17: 6,064,937 probably benign Het
Slco2b1 A T 7: 99,685,501 Y254* probably null Het
Steap3 G A 1: 120,227,730 R500C probably damaging Het
Stk10 A G 11: 32,603,722 T580A probably benign Het
Tpo C T 12: 30,104,023 G228R probably damaging Het
Tpx2 T C 2: 152,893,683 F744L probably damaging Het
Ube3b G T 5: 114,408,217 probably null Het
Vmn2r84 A G 10: 130,394,193 S17P probably damaging Het
Vps13d A T 4: 145,164,694 probably benign Het
Zfp532 T A 18: 65,685,627 S851R probably benign Het
Zfp623 G A 15: 75,947,209 E5K probably benign Het
Other mutations in Cask
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Cask APN X 13522260 missense probably damaging 0.99
IGL02118:Cask APN X 13559395 missense probably damaging 1.00
IGL02437:Cask APN X 13537621 missense probably damaging 1.00
IGL02479:Cask APN X 13557058 missense probably damaging 1.00
IGL02635:Cask APN X 13714770 missense probably damaging 0.99
IGL02903:Cask APN X 13552447 intron probably benign
IGL03225:Cask APN X 13665521 missense possibly damaging 0.74
Z1176:Cask UTSW X 13533489 missense probably benign 0.33
Posted On2013-01-20