Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02499:Cadps'

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02499

Quality Score

Status

Chromosome

Chromosomal Location

9646684-10097200 bp(+) (GRCm39)

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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abcb1a	A	G	5: 8,776,807 (GRCm39)	N835S	possibly damaging	Het
Abr	A	T	11: 76,399,916 (GRCm39)	F27Y	probably benign	Het
Adam5	C	T	8: 25,271,581 (GRCm39)		probably null	Het
Alas1	A	T	9: 106,118,520 (GRCm39)	Y201N	probably damaging	Het
Aldoart1	T	A	4: 72,770,476 (GRCm39)	R111W	possibly damaging	Het
Arhgef25	A	G	10: 127,021,460 (GRCm39)	Y253H	probably damaging	Het
Arhgef28	G	T	13: 98,090,291 (GRCm39)	A1076E	possibly damaging	Het
Baz2b	C	T	2: 59,731,840 (GRCm39)	R2066K	possibly damaging	Het
Bdh1	G	T	16: 31,256,866 (GRCm39)	R5L	possibly damaging	Het
Brap	A	G	5: 121,817,934 (GRCm39)	Y358C	probably damaging	Het
Cad	T	C	5: 31,226,948 (GRCm39)	V1235A	probably damaging	Het
Cd200r2	A	G	16: 44,734,948 (GRCm39)	T220A	possibly damaging	Het
Cd209e	T	A	8: 3,904,238 (GRCm39)	M6L	probably benign	Het
Cdh23	G	T	10: 60,220,958 (GRCm39)	T1265K	probably damaging	Het
Clec16a	T	C	16: 10,512,540 (GRCm39)	S828P	probably benign	Het
Dao	A	G	5: 114,152,002 (GRCm39)	K107E	possibly damaging	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dvl1	T	C	4: 155,939,237 (GRCm39)	I250T	probably benign	Het
Dzip3	A	C	16: 48,754,213 (GRCm39)	L945V	probably damaging	Het
Gm128	A	G	3: 95,147,992 (GRCm39)	S101P	possibly damaging	Het
Gphn	T	C	12: 78,539,074 (GRCm39)	L240P	probably benign	Het
Hecw2	A	G	1: 53,965,647 (GRCm39)	I393T	probably benign	Het
Iigp1c	T	C	18: 60,378,710 (GRCm39)	S82P	probably damaging	Het
Kat14	A	G	2: 144,235,751 (GRCm39)	E161G	probably benign	Het
Kcne3	A	C	7: 99,833,610 (GRCm39)	I76L	probably benign	Het
Kcnk18	A	T	19: 59,223,614 (GRCm39)	Q253L	probably benign	Het
Kmt2a	T	C	9: 44,741,806 (GRCm39)		probably benign	Het
Lrrc73	A	G	17: 46,567,915 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,296,056 (GRCm39)	S2993P	possibly damaging	Het
Mto1	T	A	9: 78,368,794 (GRCm39)		probably benign	Het
Myo9a	T	A	9: 59,722,669 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,467,342 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,566,885 (GRCm39)	T587A	probably benign	Het
Nemf	T	A	12: 69,368,903 (GRCm39)	I771F	probably damaging	Het
Or10k2	T	A	8: 84,267,812 (GRCm39)	V13D	possibly damaging	Het
Or5k16	A	G	16: 58,736,614 (GRCm39)	L130P	probably damaging	Het
Or8c10	A	T	9: 38,278,977 (GRCm39)	Y45F	probably benign	Het
Papln	T	C	12: 83,827,445 (GRCm39)	V761A	probably benign	Het
Pask	A	T	1: 93,248,817 (GRCm39)	L861*	probably null	Het
Pcdh18	T	A	3: 49,707,896 (GRCm39)	R859S	probably benign	Het
Ppip5k1	C	T	2: 121,162,034 (GRCm39)		probably null	Het
Ptprs	A	G	17: 56,744,884 (GRCm39)	V284A	probably damaging	Het
Rasgrp4	A	T	7: 28,850,928 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,419,271 (GRCm39)	I614V	probably benign	Het
Sec23ip	T	C	7: 128,378,640 (GRCm39)	I818T	probably damaging	Het
Skint11	G	A	4: 114,051,801 (GRCm39)	A50T	probably benign	Het
Sqor	T	A	2: 122,650,007 (GRCm39)	M417K	possibly damaging	Het
Tbc1d24	T	C	17: 24,426,593 (GRCm39)		probably null	Het
Tbc1d8b	A	T	X: 138,613,173 (GRCm39)	D333V	probably damaging	Het
Tbx2	T	C	11: 85,731,739 (GRCm39)	S679P	possibly damaging	Het
Thbs2	A	G	17: 14,904,328 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,689,795 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,493,568 (GRCm39)	I126N	probably damaging	Het
Zbtb10	G	T	3: 9,316,800 (GRCm39)	G204V	probably damaging	Het
Zfp426	A	C	9: 20,384,414 (GRCm39)		probably benign	Het

Other mutations in Cadps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16