Incidental Mutation 'R1863:Cadps'
ID 204148
Institutional Source Beutler Lab
Gene Symbol Cadps
Ensembl Gene ENSMUSG00000054423
Gene Name Ca2+-dependent secretion activator
Synonyms CAPS1
MMRRC Submission 039886-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1863 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 9646684-10097200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12505796 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 758 (V758A)
Ref Sequence ENSEMBL: ENSMUSP00000153426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067491] [ENSMUST00000112657] [ENSMUST00000112658] [ENSMUST00000177814] [ENSMUST00000224882]
AlphaFold Q80TJ1
Predicted Effect probably benign
Transcript: ENSMUST00000067491
AA Change: V758A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000064706
Gene: ENSMUSG00000054423
AA Change: V758A

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: V761A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000108276
Gene: ENSMUSG00000054423
AA Change: V761A

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: V762A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000108277
Gene: ENSMUSG00000054423
AA Change: V762A

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: V763A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000136076
Gene: ENSMUSG00000054423
AA Change: V763A

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 noncoding transcript
Transcript: ENSMUST00000224106
Predicted Effect probably benign
Transcript: ENSMUST00000224882
AA Change: V758A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.0%
  • 20x: 90.8%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,527,746 (GRCm39) S1015T probably damaging Het
Adamts10 T A 17: 33,770,406 (GRCm39) probably null Het
Adgrv1 G A 13: 81,711,685 (GRCm39) T1097I probably damaging Het
Apeh T C 9: 107,969,302 (GRCm39) Y274C possibly damaging Het
Apobec3 A G 15: 79,782,068 (GRCm39) D26G possibly damaging Het
Arg2 C T 12: 79,196,794 (GRCm39) Q172* probably null Het
Asb18 C T 1: 89,942,104 (GRCm39) V66I probably benign Het
Cacna1i G A 15: 80,243,132 (GRCm39) G430S probably damaging Het
Calhm3 A G 19: 47,140,539 (GRCm39) W185R probably damaging Het
Car5b T C X: 162,774,369 (GRCm39) D146G probably damaging Het
Card10 G A 15: 78,664,714 (GRCm39) R747W probably damaging Het
Cd300lg T G 11: 101,932,430 (GRCm39) V5G probably damaging Het
Cd46 C A 1: 194,765,931 (GRCm39) G145C probably damaging Het
Chit1 T C 1: 134,078,988 (GRCm39) S433P probably damaging Het
Cntrl G A 2: 35,008,131 (GRCm39) E182K possibly damaging Het
Col6a5 T A 9: 105,817,400 (GRCm39) M304L unknown Het
Cplane1 A G 15: 8,258,077 (GRCm39) I2108V probably benign Het
Cpxm2 C T 7: 131,745,392 (GRCm39) probably null Het
Dbf4 G A 5: 8,447,375 (GRCm39) Q612* probably null Het
Dnah11 G C 12: 118,027,587 (GRCm39) Q1835E possibly damaging Het
Ehbp1l1 A T 19: 5,767,882 (GRCm39) N1140K probably benign Het
Eps8l1 C A 7: 4,468,359 (GRCm39) probably benign Het
Fbxl21 A T 13: 56,674,876 (GRCm39) I76L probably benign Het
Gcnt2 A T 13: 41,014,577 (GRCm39) K249N possibly damaging Het
Gm5819 A G 18: 8,694,179 (GRCm39) T35A probably benign Het
Gm8180 T C 14: 44,021,139 (GRCm39) E23G probably benign Het
Gorab A G 1: 163,231,131 (GRCm39) F8L probably damaging Het
Hlf A G 11: 90,231,652 (GRCm39) L274S probably damaging Het
Il15ra T A 2: 11,728,247 (GRCm39) S137T possibly damaging Het
Krt78 A T 15: 101,855,004 (GRCm39) C936S possibly damaging Het
Lamb2 T C 9: 108,358,583 (GRCm39) S207P probably benign Het
Lce1a1 T C 3: 92,554,118 (GRCm39) S119G unknown Het
Lipo3 A G 19: 33,762,092 (GRCm39) F135S probably damaging Het
Lrp4 T A 2: 91,328,708 (GRCm39) L1536Q probably benign Het
Lrrc25 T C 8: 71,070,596 (GRCm39) S126P possibly damaging Het
Mbd3l2 T C 9: 18,356,217 (GRCm39) S181P possibly damaging Het
Msantd5f6 A T 4: 73,320,037 (GRCm39) Y247* probably null Het
Mss51 C T 14: 20,534,936 (GRCm39) R278H probably damaging Het
Myom3 G A 4: 135,505,348 (GRCm39) M412I probably benign Het
Naa25 T C 5: 121,573,611 (GRCm39) V780A probably benign Het
Naip6 A T 13: 100,437,067 (GRCm39) F485L probably benign Het
Notch1 T C 2: 26,359,962 (GRCm39) Y1251C probably damaging Het
Npas3 A G 12: 54,115,609 (GRCm39) N826D probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or2t47 T C 11: 58,442,849 (GRCm39) Y72C probably benign Het
Or4a74 A T 2: 89,440,053 (GRCm39) L131* probably null Het
Or4c35 A T 2: 89,808,754 (GRCm39) I211F probably benign Het
Or5p57 A C 7: 107,665,932 (GRCm39) Y24* probably null Het
Or6c66 T C 10: 129,461,217 (GRCm39) T238A probably damaging Het
Or8c8 T G 9: 38,165,016 (GRCm39) M101R probably damaging Het
Or8s16 G T 15: 98,211,372 (GRCm39) Q20K probably benign Het
Osbpl6 G A 2: 76,415,402 (GRCm39) R588H probably damaging Het
Pcdhb17 A T 18: 37,619,164 (GRCm39) D318V probably benign Het
Pcnx2 T A 8: 126,545,525 (GRCm39) E1162V probably damaging Het
Pde2a G A 7: 101,160,361 (GRCm39) R845H probably damaging Het
Pkhd1 G T 1: 20,621,244 (GRCm39) R805S probably benign Het
Ppl T C 16: 4,905,844 (GRCm39) K1484E possibly damaging Het
Pramel7 T C 2: 87,321,675 (GRCm39) E120G probably benign Het
Prg4 T A 1: 150,336,420 (GRCm39) D60V probably damaging Het
Prpf6 T A 2: 181,249,967 (GRCm39) D42E possibly damaging Het
Rbm5 C T 9: 107,627,718 (GRCm39) V408I possibly damaging Het
Rsrp1 G T 4: 134,651,388 (GRCm39) D51Y unknown Het
Sec22a A G 16: 35,168,088 (GRCm39) M141T probably damaging Het
Spryd3 A G 15: 102,026,094 (GRCm39) S417P probably benign Het
Sptbn2 A G 19: 4,782,713 (GRCm39) M550V possibly damaging Het
Sugt1 C T 14: 79,846,434 (GRCm39) T157I probably damaging Het
Syne4 T C 7: 30,016,308 (GRCm39) V168A probably benign Het
Tas2r122 A T 6: 132,688,065 (GRCm39) L276* probably null Het
Tbc1d14 G A 5: 36,665,037 (GRCm39) S231F probably damaging Het
Tenm3 T A 8: 48,729,381 (GRCm39) I1526F probably benign Het
Tgm2 C T 2: 157,966,139 (GRCm39) C505Y probably damaging Het
Thop1 T C 10: 80,909,151 (GRCm39) Y61H probably damaging Het
Ticam1 G A 17: 56,578,436 (GRCm39) H220Y probably damaging Het
Tle6 T C 10: 81,427,755 (GRCm39) D500G possibly damaging Het
Tm6sf2 T A 8: 70,532,375 (GRCm39) L345Q probably damaging Het
Tnxb T C 17: 34,889,848 (GRCm39) C114R probably damaging Het
Topors G T 4: 40,262,149 (GRCm39) C378* probably null Het
Ttc6 G A 12: 57,760,881 (GRCm39) G1544R probably benign Het
Vmn2r4 A T 3: 64,314,410 (GRCm39) N190K probably benign Het
Wdr70 C A 15: 7,950,054 (GRCm39) V447F probably benign Het
Xpa A G 4: 46,155,730 (GRCm39) probably benign Het
Xrcc1 T C 7: 24,270,000 (GRCm39) S474P possibly damaging Het
Zfp658 T G 7: 43,223,323 (GRCm39) F533V possibly damaging Het
Zfp799 G A 17: 33,038,374 (GRCm39) H631Y probably damaging 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 12,449,802 (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
R7715:Cadps UTSW 14 12,457,762 (GRCm38) missense probably benign 0.01
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'- ACCCACCCCATGTGTAGTTC -3'
(R):5'- GCCACTCTTGATACTAGCACC -3'

Sequencing Primer
(F):5'- ACCCCATGTGTAGTTCCTCCC -3'
(R):5'- CTACAGGGCTGGTTCAGTC -3'
Posted On 2014-06-23