Incidental Mutation 'IGL02499:Cadps'
ID 295950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cadps
Ensembl Gene ENSMUSG00000054423
Gene Name Ca2+-dependent secretion activator
Synonyms CAPS1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02499
Quality Score
Status
Chromosome 14
Chromosomal Location 12372563-12823079 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 12822725 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 5 (S5*)
Ref Sequence ENSEMBL: ENSMUSP00000153426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067491] [ENSMUST00000112657] [ENSMUST00000112658] [ENSMUST00000177814] [ENSMUST00000224882]
AlphaFold Q80TJ1
Predicted Effect probably null
Transcript: ENSMUST00000067491
AA Change: S5*
SMART Domains Protein: ENSMUSP00000064706
Gene: ENSMUSG00000054423
AA Change: S5*

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
low complexity region 41 75 N/A INTRINSIC
coiled coil region 93 121 N/A INTRINSIC
C2 397 492 1.08e-2 SMART
PH 520 624 1.78e-10 SMART
low complexity region 772 783 N/A INTRINSIC
DUF1041 833 948 6.21e-54 SMART
low complexity region 1022 1045 N/A INTRINSIC
low complexity region 1354 1361 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112657
AA Change: S5*
SMART Domains Protein: ENSMUSP00000108276
Gene: ENSMUSG00000054423
AA Change: S5*

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
low complexity region 41 75 N/A INTRINSIC
coiled coil region 93 121 N/A INTRINSIC
C2 397 492 1.08e-2 SMART
PH 520 624 1.78e-10 SMART
low complexity region 775 786 N/A INTRINSIC
DUF1041 836 941 3.88e-55 SMART
low complexity region 1015 1038 N/A INTRINSIC
low complexity region 1347 1354 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112658
AA Change: S5*
SMART Domains Protein: ENSMUSP00000108277
Gene: ENSMUSG00000054423
AA Change: S5*

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
low complexity region 41 75 N/A INTRINSIC
coiled coil region 93 121 N/A INTRINSIC
C2 397 492 1.08e-2 SMART
PH 520 624 1.78e-10 SMART
low complexity region 776 787 N/A INTRINSIC
DUF1041 837 942 3.88e-55 SMART
low complexity region 1016 1039 N/A INTRINSIC
low complexity region 1348 1355 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000177814
AA Change: S5*
SMART Domains Protein: ENSMUSP00000136076
Gene: ENSMUSG00000054423
AA Change: S5*

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
low complexity region 41 75 N/A INTRINSIC
coiled coil region 93 121 N/A INTRINSIC
C2 397 492 1.08e-2 SMART
PH 520 624 1.78e-10 SMART
low complexity region 777 788 N/A INTRINSIC
DUF1041 838 943 2.75e-55 SMART
low complexity region 1017 1040 N/A INTRINSIC
low complexity region 1349 1356 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000224882
AA Change: S5*
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 novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous null mice display neonatal lethality, respiratory failure and abnormal adrenal gland physiology. Adult heterozygous null mice display abnormal adrenal gland physiology that is different from that seen in homozygous neonates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abcb1a A G 5: 8,726,807 N835S possibly damaging Het
Abr A T 11: 76,509,090 F27Y probably benign Het
Adam5 C T 8: 24,781,565 probably null Het
Alas1 A T 9: 106,241,321 Y201N probably damaging Het
Aldoart1 T A 4: 72,852,239 R111W possibly damaging Het
Arhgef25 A G 10: 127,185,591 Y253H probably damaging Het
Arhgef28 G T 13: 97,953,783 A1076E possibly damaging Het
Baz2b C T 2: 59,901,496 R2066K possibly damaging Het
Bdh1 G T 16: 31,438,048 R5L possibly damaging Het
Brap A G 5: 121,679,871 Y358C probably damaging Het
Cad T C 5: 31,069,604 V1235A probably damaging Het
Cd200r2 A G 16: 44,914,585 T220A possibly damaging Het
Cd209e T A 8: 3,854,238 M6L probably benign Het
Cdh23 G T 10: 60,385,179 T1265K probably damaging Het
Clec16a T C 16: 10,694,676 S828P probably benign Het
Dao A G 5: 114,013,941 K107E possibly damaging Het
Dnah6 T A 6: 73,021,227 M4071L probably benign Het
Dvl1 T C 4: 155,854,780 I250T probably benign Het
Dzip3 A C 16: 48,933,850 L945V probably damaging Het
Gm128 A G 3: 95,240,681 S101P possibly damaging Het
Gm4951 T C 18: 60,245,638 S82P probably damaging Het
Gphn T C 12: 78,492,300 L240P probably benign Het
Hecw2 A G 1: 53,926,488 I393T probably benign Het
Kat14 A G 2: 144,393,831 E161G probably benign Het
Kcne3 A C 7: 100,184,403 I76L probably benign Het
Kcnk18 A T 19: 59,235,182 Q253L probably benign Het
Kmt2a T C 9: 44,830,509 probably benign Het
Lrrc73 A G 17: 46,256,989 probably benign Het
Mki67 A G 7: 135,694,327 S2993P possibly damaging Het
Mto1 T A 9: 78,461,512 probably benign Het
Myo9a T A 9: 59,815,386 probably benign Het
Myt1 G A 2: 181,825,549 probably benign Het
Ncoa7 T C 10: 30,690,889 T587A probably benign Het
Nemf T A 12: 69,322,129 I771F probably damaging Het
Olfr180 A G 16: 58,916,251 L130P probably damaging Het
Olfr250 A T 9: 38,367,681 Y45F probably benign Het
Olfr370 T A 8: 83,541,183 V13D possibly damaging Het
Papln T C 12: 83,780,671 V761A probably benign Het
Pask A T 1: 93,321,095 L861* probably null Het
Pcdh18 T A 3: 49,753,447 R859S probably benign Het
Ppip5k1 C T 2: 121,331,553 probably null Het
Ptprs A G 17: 56,437,884 V284A probably damaging Het
Rasgrp4 A T 7: 29,151,503 probably benign Het
Rp1 T C 1: 4,349,048 I614V probably benign Het
Sec23ip T C 7: 128,776,916 I818T probably damaging Het
Skint11 G A 4: 114,194,604 A50T probably benign Het
Sqor T A 2: 122,808,087 M417K possibly damaging Het
Tbc1d24 T C 17: 24,207,619 probably null Het
Tbc1d8b A T X: 139,712,424 D333V probably damaging Het
Tbx2 T C 11: 85,840,913 S679P possibly damaging Het
Thbs2 A G 17: 14,684,066 probably benign Het
Ttn T C 2: 76,859,451 probably benign Het
Vmn2r28 A T 7: 5,490,569 I126N probably damaging Het
Zbtb10 G T 3: 9,251,740 G204V probably damaging Het
Zfp426 A C 9: 20,473,118 probably benign Het
Other mutations in Cadps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Cadps APN 14 12491795 missense probably damaging 1.00
IGL00990:Cadps APN 14 12715374 missense possibly damaging 0.56
IGL01071:Cadps APN 14 12509091 splice site probably null
IGL01339:Cadps APN 14 12486543 missense possibly damaging 0.58
IGL01518:Cadps APN 14 12522352 missense probably damaging 1.00
IGL01560:Cadps APN 14 12491792 missense probably damaging 1.00
IGL01598:Cadps APN 14 12522202 critical splice donor site probably null
IGL01603:Cadps APN 14 12454154 splice site probably benign
IGL01836:Cadps APN 14 12522311 missense probably damaging 1.00
IGL01839:Cadps APN 14 12467184 splice site probably benign
IGL01932:Cadps APN 14 12373609 utr 3 prime probably benign
IGL02172:Cadps APN 14 12705681 missense probably damaging 1.00
IGL02175:Cadps APN 14 12467092 missense probably damaging 0.96
IGL02212:Cadps APN 14 12522345 missense possibly damaging 0.94
IGL02351:Cadps APN 14 12597380 missense probably damaging 0.99
IGL02358:Cadps APN 14 12597380 missense probably damaging 0.99
IGL02505:Cadps APN 14 12449759 missense probably damaging 1.00
IGL02591:Cadps APN 14 12473465 missense probably damaging 1.00
IGL02592:Cadps APN 14 12473465 missense probably damaging 1.00
IGL02671:Cadps APN 14 12491824 missense probably damaging 1.00
IGL02956:Cadps APN 14 12418047 splice site probably benign
IGL03029:Cadps APN 14 12376675 missense probably damaging 1.00
IGL03216:Cadps APN 14 12439944 missense probably damaging 1.00
IGL03282:Cadps APN 14 12465856 splice site probably benign
turbo UTSW 14 12491800 missense probably damaging 1.00
R0241:Cadps UTSW 14 12376675 missense probably damaging 1.00
R0241:Cadps UTSW 14 12376675 missense probably damaging 1.00
R0420:Cadps UTSW 14 12491800 missense probably damaging 1.00
R1180:Cadps UTSW 14 12457836 splice site probably benign
R1398:Cadps UTSW 14 12449822 missense probably damaging 1.00
R1678:Cadps UTSW 14 12517802 critical splice donor site probably null
R1792:Cadps UTSW 14 12449802 missense possibly damaging 0.93
R1863:Cadps UTSW 14 12449802 missense possibly damaging 0.93
R1863:Cadps UTSW 14 12505796 missense probably benign 0.09
R1918:Cadps UTSW 14 12546372 missense probably damaging 0.99
R1920:Cadps UTSW 14 12465859 missense possibly damaging 0.64
R1921:Cadps UTSW 14 12465859 missense possibly damaging 0.64
R1922:Cadps UTSW 14 12465859 missense possibly damaging 0.64
R1925:Cadps UTSW 14 12705726 missense probably damaging 1.00
R1966:Cadps UTSW 14 12822450 nonsense probably null
R2013:Cadps UTSW 14 12522337 missense probably damaging 1.00
R2228:Cadps UTSW 14 12465935 missense probably benign 0.05
R2331:Cadps UTSW 14 12603692 missense probably damaging 1.00
R3436:Cadps UTSW 14 12616158 splice site probably null
R3853:Cadps UTSW 14 12509090 splice site probably benign
R3893:Cadps UTSW 14 12488883 utr 3 prime probably benign
R3916:Cadps UTSW 14 12457702 missense probably benign 0.00
R3917:Cadps UTSW 14 12457702 missense probably benign 0.00
R3953:Cadps UTSW 14 12505937 missense probably damaging 1.00
R3966:Cadps UTSW 14 12522161 splice site probably null
R4024:Cadps UTSW 14 12705539 missense probably damaging 1.00
R4079:Cadps UTSW 14 12457702 missense probably benign 0.00
R4230:Cadps UTSW 14 12488987 missense probably damaging 0.98
R4333:Cadps UTSW 14 12467031 missense probably damaging 1.00
R4410:Cadps UTSW 14 12822323 missense probably damaging 0.98
R4586:Cadps UTSW 14 12505808 missense probably damaging 1.00
R4685:Cadps UTSW 14 12467139 missense possibly damaging 0.77
R4698:Cadps UTSW 14 12705654 missense possibly damaging 0.90
R4855:Cadps UTSW 14 12822449 missense unknown
R4898:Cadps UTSW 14 12411588 missense possibly damaging 0.86
R4908:Cadps UTSW 14 12536386 missense probably damaging 1.00
R5208:Cadps UTSW 14 12457711 missense possibly damaging 0.68
R5297:Cadps UTSW 14 12822345 missense probably damaging 1.00
R5328:Cadps UTSW 14 12457790 missense probably benign 0.31
R5408:Cadps UTSW 14 12705759 missense possibly damaging 0.87
R5529:Cadps UTSW 14 12454285 missense probably damaging 1.00
R5567:Cadps UTSW 14 12473497 missense possibly damaging 0.49
R5570:Cadps UTSW 14 12473497 missense possibly damaging 0.49
R5727:Cadps UTSW 14 12486525 nonsense probably null
R5812:Cadps UTSW 14 12376685 missense probably benign
R6361:Cadps UTSW 14 12491778 nonsense probably null
R6767:Cadps UTSW 14 12550888 missense probably damaging 1.00
R6805:Cadps UTSW 14 12467103 missense probably damaging 0.99
R6861:Cadps UTSW 14 12522401 nonsense probably null
R6883:Cadps UTSW 14 12465883 missense probably damaging 0.96
R6887:Cadps UTSW 14 12505811 missense probably damaging 1.00
R6997:Cadps UTSW 14 12505793 missense possibly damaging 0.88
R7102:Cadps UTSW 14 12603738 missense probably damaging 1.00
R7120:Cadps UTSW 14 12439919 missense probably damaging 0.98
R7143:Cadps UTSW 14 12491838 missense probably benign 0.02
R7290:Cadps UTSW 14 12616099 missense probably damaging 1.00
R7614:Cadps UTSW 14 12454260 missense probably damaging 1.00
R7674:Cadps UTSW 14 12411581 missense probably damaging 0.99
R7715:Cadps UTSW 14 12457762 missense probably benign 0.01
R7801:Cadps UTSW 14 12489476 critical splice donor site probably null
R7814:Cadps UTSW 14 12376706 missense probably damaging 0.99
R7915:Cadps UTSW 14 12705544 missense possibly damaging 0.84
R8087:Cadps UTSW 14 12536380 missense probably damaging 1.00
R8109:Cadps UTSW 14 12488975 missense probably benign 0.00
R8485:Cadps UTSW 14 12439872 missense probably damaging 1.00
R9156:Cadps UTSW 14 12705676 missense probably damaging 1.00
R9158:Cadps UTSW 14 12546356 missense probably benign 0.10
R9312:Cadps UTSW 14 12616095 missense probably damaging 1.00
X0018:Cadps UTSW 14 12373690 missense probably damaging 1.00
X0028:Cadps UTSW 14 12467118 missense possibly damaging 0.93
Z1088:Cadps UTSW 14 12467113 missense probably damaging 0.96
Z1177:Cadps UTSW 14 12465880 missense probably damaging 0.99
Posted On 2015-04-16