Incidental Mutation 'R7143:Cadps'
ID 553570
Institutional Source Beutler Lab
Gene Symbol Cadps
Ensembl Gene ENSMUSG00000054423
Gene Name Ca2+-dependent secretion activator
Synonyms CAPS1
MMRRC Submission 045222-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7143 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 9646684-10097200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12491838 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 771 (V771I)
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: V771I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000064706
Gene: ENSMUSG00000054423
AA Change: V771I

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: V774I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108276
Gene: ENSMUSG00000054423
AA Change: V774I

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: V775I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108277
Gene: ENSMUSG00000054423
AA Change: V775I

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: V776I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000136076
Gene: ENSMUSG00000054423
AA Change: V776I

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
AA Change: V771I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik C T 7: 103,708,422 (GRCm39) C129Y probably damaging Het
Agbl4 A G 4: 111,474,333 (GRCm39) N374S probably damaging Het
Agl A G 3: 116,585,670 (GRCm39) S153P probably damaging Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Ankrd17 C A 5: 90,433,820 (GRCm39) A650S possibly damaging Het
Ankrd53 A G 6: 83,739,893 (GRCm39) R16G possibly damaging Het
Apba2 T C 7: 64,394,165 (GRCm39) L570P probably damaging Het
Asap1 A G 15: 64,063,377 (GRCm39) F101L probably damaging Het
Cadm4 T A 7: 24,198,992 (GRCm39) I89N possibly damaging Het
Cenph A G 13: 100,898,285 (GRCm39) V206A possibly damaging Het
Cenpn A G 8: 117,663,966 (GRCm39) T253A probably benign Het
Cep120 C T 18: 53,816,457 (GRCm39) G939R probably benign Het
Cfap57 G A 4: 118,477,906 (GRCm39) probably benign Het
Clip1 T C 5: 123,791,673 (GRCm39) I166V probably benign Het
Cstf3 T A 2: 104,476,961 (GRCm39) V144E probably benign Het
Cyp21a1 T A 17: 35,021,300 (GRCm39) H357L probably damaging Het
Cyth3 T A 5: 143,670,151 (GRCm39) V12E unknown Het
Dgat2 T C 7: 98,806,331 (GRCm39) I289V probably benign Het
Dip2a A G 10: 76,133,625 (GRCm39) C527R probably damaging Het
Dnah17 A C 11: 117,976,956 (GRCm39) W1879G probably damaging Het
Dnai2 A G 11: 114,645,076 (GRCm39) T504A possibly damaging Het
Efl1 C T 7: 82,411,888 (GRCm39) P759L probably damaging Het
Egfr A C 11: 16,821,627 (GRCm39) I351L probably benign Het
Ercc6 G A 14: 32,292,262 (GRCm39) E1209K probably damaging Het
Fam135b A T 15: 71,351,000 (GRCm39) M292K probably benign Het
Fbxl7 C A 15: 26,543,244 (GRCm39) V468L probably benign Het
Fhl2 G T 1: 43,181,011 (GRCm39) H60N probably damaging Het
G6pc1 G T 11: 101,261,549 (GRCm39) R83L probably damaging Het
Gata4 C A 14: 63,442,066 (GRCm39) R252L probably damaging Het
Glt8d1 T A 14: 30,728,602 (GRCm39) I10N probably damaging Het
Gm10803 T A 2: 93,394,304 (GRCm39) Y25* probably null Het
Gm19345 T C 7: 19,591,759 (GRCm39) F108S unknown Het
Gm4952 A G 19: 12,595,771 (GRCm39) T54A possibly damaging Het
Gprc6a C T 10: 51,490,986 (GRCm39) R921H probably benign Het
Hc A T 2: 34,940,450 (GRCm39) H129Q probably benign Het
Heatr5a T C 12: 52,008,251 (GRCm39) R31G probably benign Het
Hephl1 T C 9: 14,972,106 (GRCm39) K945E possibly damaging Het
Ik G T 18: 36,884,230 (GRCm39) M237I probably damaging Het
Izumo1 T A 7: 45,276,519 (GRCm39) S361T probably benign Het
Kcnq4 A G 4: 120,568,436 (GRCm39) F427L probably benign Het
Kifap3 T A 1: 163,683,609 (GRCm39) M430K possibly damaging Het
Kifap3 A T 1: 163,653,428 (GRCm39) N338I possibly damaging Het
Lamb3 A G 1: 192,986,873 (GRCm39) E53G probably damaging Het
Lrp1b A T 2: 41,202,655 (GRCm39) I1266K Het
Nat8 A T 6: 85,807,485 (GRCm39) I216K probably benign Het
Ncapd2 T C 6: 125,156,524 (GRCm39) I454V probably benign Het
Nlrp4f A T 13: 65,343,120 (GRCm39) V153E probably damaging Het
Nlrp4f G C 13: 65,347,166 (GRCm39) Q9E possibly damaging Het
Npy2r A T 3: 82,448,250 (GRCm39) I175N probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or1l4b A G 2: 37,036,886 (GRCm39) T221A probably benign Het
Or4a74 T C 2: 89,440,363 (GRCm39) M28V probably benign Het
Or52n3 C T 7: 104,530,393 (GRCm39) P160S probably damaging Het
Pcdh9 T C 14: 94,125,708 (GRCm39) N154S probably damaging Het
Pcdhb2 A T 18: 37,428,934 (GRCm39) E302D probably benign Het
Pclo T A 5: 14,908,836 (GRCm39) V5048E unknown Het
Pcnt A G 10: 76,224,894 (GRCm39) L1870S possibly damaging Het
Pigc T C 1: 161,798,161 (GRCm39) Y48H probably damaging Het
Pisd C T 5: 32,895,846 (GRCm39) V241I possibly damaging Het
Pkhd1l1 A T 15: 44,437,033 (GRCm39) M3464L possibly damaging Het
Pofut2 T A 10: 77,095,260 (GRCm39) I35N probably benign Het
Prss27 A G 17: 24,264,632 (GRCm39) Y265C probably damaging Het
Prss56 T A 1: 87,115,875 (GRCm39) I583K probably benign Het
Rnpep T C 1: 135,211,487 (GRCm39) E87G probably benign Het
Shtn1 T C 19: 59,007,338 (GRCm39) H304R probably damaging Het
Slc23a4 A T 6: 34,955,848 (GRCm39) I62N probably damaging Het
Slc35e2 A T 4: 155,703,051 (GRCm39) I355F probably benign Het
Snx25 T C 8: 46,488,752 (GRCm39) I868V possibly damaging Het
Spatc1l T A 10: 76,405,765 (GRCm39) L323Q probably damaging Het
Speer4a2 T A 5: 26,290,674 (GRCm39) I166F probably benign Het
Taok1 A G 11: 77,428,814 (GRCm39) V962A probably benign Het
Tas2r140 A G 6: 133,032,482 (GRCm39) I92T probably benign Het
Trim17 C A 11: 58,856,010 (GRCm39) Y22* probably null Het
Tti1 T A 2: 157,849,596 (GRCm39) M548L probably benign Het
Unc93b1 T C 19: 3,985,204 (GRCm39) V4A unknown Het
Utp3 G C 5: 88,702,376 (GRCm39) probably benign Het
Vmn1r225 A T 17: 20,722,646 (GRCm39) Y29F probably benign Het
Vmn1r34 A T 6: 66,614,648 (GRCm39) I30N probably benign Het
Vmn2r67 T A 7: 84,801,846 (GRCm39) M152L probably benign Het
Wdr20rt T G 12: 65,272,692 (GRCm39) F52V probably benign Het
Zfp869 G T 8: 70,159,306 (GRCm39) H422Q 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 12,505,796 (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
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'- ATGAGAGCTGGAGCCAACTG -3'
(R):5'- GACCACCTTCCACTTGAGCATC -3'

Sequencing Primer
(F):5'- GCTTTAATGATCTTATGTGTCTCTGC -3'
(R):5'- CCACTTGAGCATCTCCCC -3'
Posted On 2019-05-15