Incidental Mutation 'IGL02479:Cask'
ID 295083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cask
Ensembl Gene ENSMUSG00000031012
Gene Name calcium/calmodulin dependent serine protein kinase
Synonyms DXRib1, mLin-2, DXPri1, LIN-2, Pals3
Accession Numbers
Essential gene? Not available question?
Stock # IGL02479
Quality Score
Status
Chromosome X
Chromosomal Location 13383319-13713020 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13423297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 502 (D502E)
Ref Sequence ENSEMBL: ENSMUSP00000120299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033321] [ENSMUST00000115436] [ENSMUST00000115438] [ENSMUST00000156096]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033321
AA Change: D528E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033321
Gene: ENSMUSG00000031012
AA Change: D528E

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 damaging
Transcript: ENSMUST00000115436
AA Change: D528E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111096
Gene: ENSMUSG00000031012
AA Change: D528E

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 damaging
Transcript: ENSMUST00000115438
AA Change: D528E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111098
Gene: ENSMUSG00000031012
AA Change: D528E

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 unknown
Transcript: ENSMUST00000139735
AA Change: D10E
SMART Domains Protein: ENSMUSP00000117862
Gene: ENSMUSG00000031012
AA Change: D10E

DomainStartEndE-ValueType
Pfam:PDZ 1 45 1.4e-9 PFAM
SH3 57 123 1.75e-12 SMART
low complexity region 145 157 N/A INTRINSIC
GuKc 180 282 4.77e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152358
Predicted Effect probably damaging
Transcript: ENSMUST00000156096
AA Change: D502E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120299
Gene: ENSMUSG00000031012
AA Change: D502E

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
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,639,461 (GRCm39) Y528C probably damaging Het
Adam24 T A 8: 41,132,571 (GRCm39) I13N probably benign Het
Arsj T C 3: 126,232,588 (GRCm39) S445P possibly damaging Het
Btf3l4 G A 4: 108,683,373 (GRCm39) T31I possibly damaging Het
Cenpl T A 1: 160,910,637 (GRCm39) S195T probably benign Het
Clhc1 T A 11: 29,528,107 (GRCm39) I545N probably damaging Het
Clrn2 T C 5: 45,621,254 (GRCm39) I216T probably benign Het
Csf2rb C T 15: 78,225,924 (GRCm39) Q332* probably null Het
Cyp3a44 T C 5: 145,727,477 (GRCm39) D284G probably benign Het
Dgka T C 10: 128,566,115 (GRCm39) E345G probably benign Het
Dync1i2 G A 2: 71,066,323 (GRCm39) V128I probably damaging Het
Eno3 T A 11: 70,551,714 (GRCm39) probably benign Het
Epc2 T A 2: 49,422,147 (GRCm39) I347K probably benign Het
F8 A T X: 74,331,846 (GRCm39) N681K probably damaging Het
Fancm T A 12: 65,153,259 (GRCm39) D1238E probably damaging Het
Fcna T A 2: 25,515,272 (GRCm39) Q237L probably benign Het
Fpr2 A T 17: 18,113,074 (GRCm39) R23S probably benign Het
Frmd3 A G 4: 74,105,752 (GRCm39) D466G probably benign Het
Gen1 C A 12: 11,291,936 (GRCm39) V618L probably benign Het
Gja4 T C 4: 127,206,217 (GRCm39) E182G probably benign Het
Gsdmc T A 15: 63,649,824 (GRCm39) I356F possibly damaging Het
Kctd19 T C 8: 106,111,400 (GRCm39) D102G probably damaging Het
Lrit2 T C 14: 36,794,235 (GRCm39) L433P probably damaging Het
Lrp2 G A 2: 69,295,145 (GRCm39) probably benign Het
Luc7l3 G A 11: 94,187,735 (GRCm39) probably benign Het
Map3k5 T A 10: 19,932,230 (GRCm39) L458Q probably damaging Het
Mast4 A G 13: 102,878,545 (GRCm39) S1038P probably damaging Het
Med12 A T X: 100,340,598 (GRCm39) probably benign Het
Mtor T A 4: 148,555,041 (GRCm39) L888M probably damaging Het
Nova1 A T 12: 46,863,701 (GRCm39) I83N unknown Het
Obscn A G 11: 58,947,053 (GRCm39) probably benign Het
Or11q2 T C X: 48,772,742 (GRCm39) V121A probably benign Het
Or4d10c T A 19: 12,065,269 (GRCm39) M296L probably benign Het
Or4f15 A C 2: 111,813,730 (GRCm39) S230A probably benign Het
Or6k2 C A 1: 173,986,520 (GRCm39) Y60* probably null Het
Pde2a A G 7: 101,150,290 (GRCm39) Y243C probably damaging Het
Pdzd8 T A 19: 59,288,215 (GRCm39) K1062* probably null Het
Phc1 A T 6: 122,300,676 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,863,730 (GRCm39) S764T probably benign Het
Pmp2 T G 3: 10,247,262 (GRCm39) R89S probably benign Het
Prdm2 A G 4: 142,861,499 (GRCm39) L597P probably damaging Het
Rfx6 T A 10: 51,554,424 (GRCm39) D88E probably benign Het
Rgs9 T C 11: 109,116,478 (GRCm39) S442G possibly damaging Het
Ror2 C T 13: 53,285,968 (GRCm39) R82Q possibly damaging Het
Sez6 C A 11: 77,868,852 (GRCm39) A986E possibly damaging Het
Slc5a5 T A 8: 71,341,555 (GRCm39) M325L possibly damaging Het
Slx9 T C 10: 77,350,161 (GRCm39) S76G probably damaging Het
Sppl2c G A 11: 104,077,763 (GRCm39) V188I probably benign Het
Srrm3 G T 5: 135,864,103 (GRCm39) C67F probably damaging Het
Stk31 A G 6: 49,398,622 (GRCm39) E341G probably damaging Het
Svil A T 18: 5,099,476 (GRCm39) M1267L probably damaging Het
Tas2r135 C T 6: 42,382,685 (GRCm39) R75* probably null Het
Trav8d-1 T C 14: 53,016,257 (GRCm39) S48P probably benign Het
Vrk1 A T 12: 106,017,261 (GRCm39) Q95L probably benign Het
Wdr25 C A 12: 108,864,527 (GRCm39) T224K probably benign Het
Wdr37 A T 13: 8,892,820 (GRCm39) H224Q probably damaging Het
Zhx1 C T 15: 57,917,767 (GRCm39) E160K probably damaging Het
Other mutations in Cask
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Cask APN X 13,388,499 (GRCm39) missense probably damaging 0.99
IGL02118:Cask APN X 13,425,634 (GRCm39) missense probably damaging 1.00
IGL02437:Cask APN X 13,403,860 (GRCm39) missense probably damaging 1.00
IGL02635:Cask APN X 13,581,009 (GRCm39) missense probably damaging 0.99
IGL02903:Cask APN X 13,418,686 (GRCm39) intron probably benign
IGL03225:Cask APN X 13,531,760 (GRCm39) missense possibly damaging 0.74
R0076:Cask UTSW X 13,544,513 (GRCm39) intron probably benign
Z1176:Cask UTSW X 13,399,728 (GRCm39) missense probably benign 0.33
Posted On 2015-04-16