Incidental Mutation 'R5408:Cadps'
ID 426417
Institutional Source Beutler Lab
Gene Symbol Cadps
Ensembl Gene ENSMUSG00000054423
Gene Name Ca2+-dependent secretion activator
Synonyms CAPS1
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5408 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 9646684-10097200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12705759 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 212 (H212R)
Ref Sequence ENSEMBL: ENSMUSP00000136076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067491] [ENSMUST00000112657] [ENSMUST00000112658] [ENSMUST00000177814] [ENSMUST00000224882]
AlphaFold Q80TJ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000067491
AA Change: H212R

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064706
Gene: ENSMUSG00000054423
AA Change: H212R

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 possibly damaging
Transcript: ENSMUST00000112657
AA Change: H212R

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108276
Gene: ENSMUSG00000054423
AA Change: H212R

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 possibly damaging
Transcript: ENSMUST00000112658
AA Change: H212R

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108277
Gene: ENSMUSG00000054423
AA Change: H212R

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 possibly damaging
Transcript: ENSMUST00000177814
AA Change: H212R

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136076
Gene: ENSMUSG00000054423
AA Change: H212R

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: ENSMUST00000224882
AA Change: H212R

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
Meta Mutation Damage Score 0.0725 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly 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 12,505,796 (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
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'- GTTCTGAAACATCTCATAGAGCTG -3'
(R):5'- AGGGGCCTATCTGAAATCACAC -3'

Sequencing Primer
(F):5'- ATAGAGCTGTTCCTTGCTCAGAATC -3'
(R):5'- GGCCTATCTGAAATCACACAGCAAG -3'
Posted On 2016-09-01