Incidental Mutation 'R7715:Cadps'
ID 594878
Institutional Source Beutler Lab
Gene Symbol Cadps
Ensembl Gene ENSMUSG00000054423
Gene Name Ca2+-dependent secretion activator
Synonyms CAPS1
MMRRC Submission 045773-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7715 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 9646684-10097200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 12457762 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1040 (P1040S)
Ref Sequence ENSEMBL: ENSMUSP00000064706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067491] [ENSMUST00000112657] [ENSMUST00000112658] [ENSMUST00000177814] [ENSMUST00000224882]
AlphaFold Q80TJ1
Predicted Effect probably benign
Transcript: ENSMUST00000067491
AA Change: P1040S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000064706
Gene: ENSMUSG00000054423
AA Change: P1040S

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 benign
Transcript: ENSMUST00000112657
AA Change: P1033S

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108276
Gene: ENSMUSG00000054423
AA Change: P1033S

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 benign
Transcript: ENSMUST00000112658
AA Change: P1034S

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108277
Gene: ENSMUSG00000054423
AA Change: P1034S

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 benign
Transcript: ENSMUST00000177814
AA Change: P1035S

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000136076
Gene: ENSMUSG00000054423
AA Change: P1035S

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 benign
Transcript: ENSMUST00000224581
Predicted Effect probably benign
Transcript: ENSMUST00000224882
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (67/68)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,659 (GRCm39) F57L probably benign Het
Agl C T 3: 116,551,905 (GRCm39) R563Q Het
Ahctf1 A G 1: 179,598,413 (GRCm39) M919T probably benign Het
Ano4 A T 10: 88,831,173 (GRCm39) N483K probably damaging Het
Armt1 A G 10: 4,400,751 (GRCm39) K166R probably benign Het
Asgr2 T C 11: 69,987,721 (GRCm39) V73A probably benign Het
Atp6v0a2 A C 5: 124,791,262 (GRCm39) T564P probably damaging Het
B3gntl1 T C 11: 121,530,622 (GRCm39) T150A possibly damaging Het
Bach1 A G 16: 87,516,859 (GRCm39) I467V possibly damaging Het
Bicd1 A G 6: 149,414,471 (GRCm39) K395E probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Canx A G 11: 50,201,631 (GRCm39) S80P probably benign Het
Ccdc149 T A 5: 52,561,533 (GRCm39) probably null Het
Cd34 A T 1: 194,631,624 (GRCm39) N87Y probably damaging Het
Cdh11 T A 8: 103,391,346 (GRCm39) I297F possibly damaging Het
Cfap251 A G 5: 123,400,197 (GRCm39) N439D probably damaging Het
Cip2a A T 16: 48,834,347 (GRCm39) Q643L probably damaging Het
Col14a1 A G 15: 55,351,379 (GRCm39) I1569V unknown Het
Cxcr4 C T 1: 128,517,479 (GRCm39) V61M probably damaging Het
Cyp20a1 G A 1: 60,411,764 (GRCm39) V271M probably benign Het
Cyp2b23 T C 7: 26,381,120 (GRCm39) Y79C probably benign Het
Daam1 A G 12: 72,035,675 (GRCm39) K957E probably benign Het
Dip2c A G 13: 9,664,427 (GRCm39) K947E probably damaging Het
Efcab12 T C 6: 115,800,504 (GRCm39) K173R possibly damaging Het
Emc1 C T 4: 139,098,934 (GRCm39) R806C probably damaging Het
Epg5 G A 18: 78,011,801 (GRCm39) R816Q probably damaging Het
Faf1 G T 4: 109,568,011 (GRCm39) D24Y probably damaging Het
Fchsd1 A T 18: 38,099,695 (GRCm39) probably null Het
Foxp1 T C 6: 98,922,621 (GRCm39) T404A unknown Het
Fra10ac1 T C 19: 38,178,286 (GRCm39) E299G probably damaging Het
Gon4l A G 3: 88,815,313 (GRCm39) T1959A probably benign Het
Gpam A C 19: 55,077,353 (GRCm39) V146G probably benign Het
Hephl1 T A 9: 14,972,081 (GRCm39) D953V probably benign Het
Kcnc2 G T 10: 112,107,845 (GRCm39) E79* probably null Het
Kcnj12 T A 11: 60,957,778 (GRCm39) probably null Het
Llgl2 A T 11: 115,740,554 (GRCm39) T417S probably benign Het
Lrrc17 A T 5: 21,766,078 (GRCm39) N187Y probably damaging Het
Macc1 C T 12: 119,409,991 (GRCm39) A253V possibly damaging Het
Mark1 A G 1: 184,639,431 (GRCm39) S529P probably damaging Het
Mfsd6l T C 11: 68,448,376 (GRCm39) L409P probably damaging Het
Nek1 A G 8: 61,459,794 (GRCm39) E34G probably damaging Het
Nlrp3 T A 11: 59,433,829 (GRCm39) probably null Het
Obsl1 A T 1: 75,478,680 (GRCm39) V686D probably damaging Het
Or2l5 C T 16: 19,333,480 (GRCm39) R302K probably benign Het
Or55b10 T A 7: 102,143,668 (GRCm39) M105L possibly damaging Het
Or7h8 G A 9: 20,123,731 (GRCm39) G29R probably damaging Het
Or7h8 G A 9: 20,123,732 (GRCm39) G29E probably benign Het
Or8c15 T A 9: 38,120,775 (GRCm39) M140K probably benign Het
Or8g18 A T 9: 39,149,174 (GRCm39) L182H probably damaging Het
Ostm1 G A 10: 42,559,183 (GRCm39) G148R probably benign Het
Oxsr1 A G 9: 119,071,822 (GRCm39) S470P probably damaging Het
Pacs1 C T 19: 5,191,709 (GRCm39) M709I probably benign Het
Pan2 A G 10: 128,153,592 (GRCm39) M963V probably benign Het
Pds5a A G 5: 65,795,904 (GRCm39) L662P possibly damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,119 (GRCm39) probably benign Het
Sh2b2 T C 5: 136,247,889 (GRCm39) N554S probably benign Het
Sh3gl2 T A 4: 85,317,077 (GRCm39) probably null Het
Slc24a4 A G 12: 102,185,219 (GRCm39) M93V possibly damaging Het
Sohlh1 A G 2: 25,734,640 (GRCm39) S218P possibly damaging Het
Spast T A 17: 74,675,921 (GRCm39) N321K probably benign Het
Srcap T G 7: 127,148,460 (GRCm39) I1936S probably damaging Het
Themis G A 10: 28,739,305 (GRCm39) V592I probably benign Het
Tnfrsf1a C T 6: 125,338,377 (GRCm39) T296I possibly damaging Het
Ttk A G 9: 83,747,206 (GRCm39) T682A probably benign Het
Virma C T 4: 11,549,682 (GRCm39) R1807W probably damaging Het
Virma A G 4: 11,513,016 (GRCm39) probably null Het
Vmn2r101 T A 17: 19,832,177 (GRCm39) D724E probably damaging Het
Vmn2r11 A G 5: 109,195,307 (GRCm39) V673A probably damaging Het
Wbp4 C T 14: 79,703,734 (GRCm39) S271N probably benign Het
Other mutations in Cadps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Cadps APN 14 12,491,795 (GRCm38) missense probably damaging 1.00
IGL00990:Cadps APN 14 12,715,374 (GRCm38) missense possibly damaging 0.56
IGL01071:Cadps APN 14 12,509,091 (GRCm38) splice site probably null
IGL01339:Cadps APN 14 12,486,543 (GRCm38) missense possibly damaging 0.58
IGL01518:Cadps APN 14 12,522,352 (GRCm38) missense probably damaging 1.00
IGL01560:Cadps APN 14 12,491,792 (GRCm38) missense probably damaging 1.00
IGL01598:Cadps APN 14 12,522,202 (GRCm38) critical splice donor site probably null
IGL01603:Cadps APN 14 12,454,154 (GRCm38) splice site probably benign
IGL01836:Cadps APN 14 12,522,311 (GRCm38) missense probably damaging 1.00
IGL01839:Cadps APN 14 12,467,184 (GRCm38) splice site probably benign
IGL01932:Cadps APN 14 12,373,609 (GRCm38) utr 3 prime probably benign
IGL02172:Cadps APN 14 12,705,681 (GRCm38) missense probably damaging 1.00
IGL02175:Cadps APN 14 12,467,092 (GRCm38) missense probably damaging 0.96
IGL02212:Cadps APN 14 12,522,345 (GRCm38) missense possibly damaging 0.94
IGL02351:Cadps APN 14 12,597,380 (GRCm38) missense probably damaging 0.99
IGL02358:Cadps APN 14 12,597,380 (GRCm38) missense probably damaging 0.99
IGL02499:Cadps APN 14 12,822,725 (GRCm38) nonsense probably null
IGL02505:Cadps APN 14 12,449,759 (GRCm38) missense probably damaging 1.00
IGL02591:Cadps APN 14 12,473,465 (GRCm38) missense probably damaging 1.00
IGL02592:Cadps APN 14 12,473,465 (GRCm38) missense probably damaging 1.00
IGL02671:Cadps APN 14 12,491,824 (GRCm38) missense probably damaging 1.00
IGL02956:Cadps APN 14 12,418,047 (GRCm38) splice site probably benign
IGL03029:Cadps APN 14 12,376,675 (GRCm38) missense probably damaging 1.00
IGL03216:Cadps APN 14 12,439,944 (GRCm38) missense probably damaging 1.00
IGL03282:Cadps APN 14 12,465,856 (GRCm38) splice site probably benign
turbo UTSW 14 12,491,800 (GRCm38) missense probably damaging 1.00
R0241:Cadps UTSW 14 12,376,675 (GRCm38) missense probably damaging 1.00
R0241:Cadps UTSW 14 12,376,675 (GRCm38) missense probably damaging 1.00
R0420:Cadps UTSW 14 12,491,800 (GRCm38) missense probably damaging 1.00
R1180:Cadps UTSW 14 12,457,836 (GRCm38) splice site probably benign
R1398:Cadps UTSW 14 12,449,822 (GRCm38) missense probably damaging 1.00
R1678:Cadps UTSW 14 12,517,802 (GRCm38) critical splice donor site probably null
R1792:Cadps UTSW 14 12,449,802 (GRCm38) missense possibly damaging 0.93
R1863:Cadps UTSW 14 12,505,796 (GRCm38) missense probably benign 0.09
R1863:Cadps UTSW 14 12,449,802 (GRCm38) missense possibly damaging 0.93
R1918:Cadps UTSW 14 12,546,372 (GRCm38) missense probably damaging 0.99
R1920:Cadps UTSW 14 12,465,859 (GRCm38) missense possibly damaging 0.64
R1921:Cadps UTSW 14 12,465,859 (GRCm38) missense possibly damaging 0.64
R1922:Cadps UTSW 14 12,465,859 (GRCm38) missense possibly damaging 0.64
R1925:Cadps UTSW 14 12,705,726 (GRCm38) missense probably damaging 1.00
R1966:Cadps UTSW 14 12,822,450 (GRCm38) nonsense probably null
R2013:Cadps UTSW 14 12,522,337 (GRCm38) missense probably damaging 1.00
R2228:Cadps UTSW 14 12,465,935 (GRCm38) missense probably benign 0.05
R2331:Cadps UTSW 14 12,603,692 (GRCm38) missense probably damaging 1.00
R3436:Cadps UTSW 14 12,616,158 (GRCm38) splice site probably null
R3853:Cadps UTSW 14 12,509,090 (GRCm38) splice site probably benign
R3893:Cadps UTSW 14 12,488,883 (GRCm38) utr 3 prime probably benign
R3916:Cadps UTSW 14 12,457,702 (GRCm38) missense probably benign 0.00
R3917:Cadps UTSW 14 12,457,702 (GRCm38) missense probably benign 0.00
R3953:Cadps UTSW 14 12,505,937 (GRCm38) missense probably damaging 1.00
R3966:Cadps UTSW 14 12,522,161 (GRCm38) splice site probably null
R4024:Cadps UTSW 14 12,705,539 (GRCm38) missense probably damaging 1.00
R4079:Cadps UTSW 14 12,457,702 (GRCm38) missense probably benign 0.00
R4230:Cadps UTSW 14 12,488,987 (GRCm38) missense probably damaging 0.98
R4333:Cadps UTSW 14 12,467,031 (GRCm38) missense probably damaging 1.00
R4410:Cadps UTSW 14 12,822,323 (GRCm38) missense probably damaging 0.98
R4586:Cadps UTSW 14 12,505,808 (GRCm38) missense probably damaging 1.00
R4685:Cadps UTSW 14 12,467,139 (GRCm38) missense possibly damaging 0.77
R4698:Cadps UTSW 14 12,705,654 (GRCm38) missense possibly damaging 0.90
R4855:Cadps UTSW 14 12,822,449 (GRCm38) missense unknown
R4898:Cadps UTSW 14 12,411,588 (GRCm38) missense possibly damaging 0.86
R4908:Cadps UTSW 14 12,536,386 (GRCm38) missense probably damaging 1.00
R5208:Cadps UTSW 14 12,457,711 (GRCm38) missense possibly damaging 0.68
R5297:Cadps UTSW 14 12,822,345 (GRCm38) missense probably damaging 1.00
R5328:Cadps UTSW 14 12,457,790 (GRCm38) missense probably benign 0.31
R5408:Cadps UTSW 14 12,705,759 (GRCm38) missense possibly damaging 0.87
R5529:Cadps UTSW 14 12,454,285 (GRCm38) missense probably damaging 1.00
R5567:Cadps UTSW 14 12,473,497 (GRCm38) missense possibly damaging 0.49
R5570:Cadps UTSW 14 12,473,497 (GRCm38) missense possibly damaging 0.49
R5727:Cadps UTSW 14 12,486,525 (GRCm38) nonsense probably null
R5812:Cadps UTSW 14 12,376,685 (GRCm38) missense probably benign
R6361:Cadps UTSW 14 12,491,778 (GRCm38) nonsense probably null
R6767:Cadps UTSW 14 12,550,888 (GRCm38) missense probably damaging 1.00
R6805:Cadps UTSW 14 12,467,103 (GRCm38) missense probably damaging 0.99
R6861:Cadps UTSW 14 12,522,401 (GRCm38) nonsense probably null
R6883:Cadps UTSW 14 12,465,883 (GRCm38) missense probably damaging 0.96
R6887:Cadps UTSW 14 12,505,811 (GRCm38) missense probably damaging 1.00
R6997:Cadps UTSW 14 12,505,793 (GRCm38) missense possibly damaging 0.88
R7102:Cadps UTSW 14 12,603,738 (GRCm38) missense probably damaging 1.00
R7120:Cadps UTSW 14 12,439,919 (GRCm38) missense probably damaging 0.98
R7143:Cadps UTSW 14 12,491,838 (GRCm38) missense probably benign 0.02
R7290:Cadps UTSW 14 12,616,099 (GRCm38) missense probably damaging 1.00
R7614:Cadps UTSW 14 12,454,260 (GRCm38) missense probably damaging 1.00
R7674:Cadps UTSW 14 12,411,581 (GRCm38) missense probably damaging 0.99
R7801:Cadps UTSW 14 12,489,476 (GRCm38) critical splice donor site probably null
R7814:Cadps UTSW 14 12,376,706 (GRCm38) missense probably damaging 0.99
R7915:Cadps UTSW 14 12,705,544 (GRCm38) missense possibly damaging 0.84
R8087:Cadps UTSW 14 12,536,380 (GRCm38) missense probably damaging 1.00
R8109:Cadps UTSW 14 12,488,975 (GRCm38) missense probably benign 0.00
R8485:Cadps UTSW 14 12,439,872 (GRCm38) missense probably damaging 1.00
R9156:Cadps UTSW 14 12,705,676 (GRCm38) missense probably damaging 1.00
R9158:Cadps UTSW 14 12,546,356 (GRCm38) missense probably benign 0.10
R9312:Cadps UTSW 14 12,616,095 (GRCm38) missense probably damaging 1.00
R9465:Cadps UTSW 14 12,489,002 (GRCm38) missense possibly damaging 0.93
R9519:Cadps UTSW 14 12,546,290 (GRCm38) missense possibly damaging 0.86
R9649:Cadps UTSW 14 12,597,418 (GRCm38) missense probably damaging 0.99
R9662:Cadps UTSW 14 12,411,567 (GRCm38) missense probably benign 0.02
R9674:Cadps UTSW 14 12,454,291 (GRCm38) missense probably damaging 1.00
X0018:Cadps UTSW 14 12,373,690 (GRCm38) missense probably damaging 1.00
X0028:Cadps UTSW 14 12,467,118 (GRCm38) missense possibly damaging 0.93
Z1088:Cadps UTSW 14 12,467,113 (GRCm38) missense probably damaging 0.96
Z1177:Cadps UTSW 14 12,465,880 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCATCTCCGTCTCTGTTATATAGGATG -3'
(R):5'- CAGCCTGTAACCTGCTTACAAAG -3'

Sequencing Primer
(F):5'- CTGAATACACACTCAGCATC -3'
(R):5'- ACAAAGTGTGTTGCTCAAGTCTCC -3'
Posted On 2019-11-12