Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03216:Cadps'

413469

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 #

IGL03216

Quality Score

Status

Chromosome

Chromosomal Location

9646684-10097200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12439944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1196 (I1196T)

Ref Sequence

ENSEMBL: ENSMUSP00000064706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067491] [ENSMUST00000112657] [ENSMUST00000112658] [ENSMUST00000177814] [ENSMUST00000224882]

AlphaFold

Q80TJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000067491
AA Change: I1196T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064706
Gene: ENSMUSG00000054423
AA Change: I1196T

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 damaging
Transcript: ENSMUST00000112657
AA Change: I1189T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108276
Gene: ENSMUSG00000054423
AA Change: I1189T

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 damaging
Transcript: ENSMUST00000112658
AA Change: I1190T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108277
Gene: ENSMUSG00000054423
AA Change: I1190T

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 damaging
Transcript: ENSMUST00000177814
AA Change: I1191T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136076
Gene: ENSMUSG00000054423
AA Change: I1191T

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

noncoding transcript
Transcript: ENSMUST00000224106

Predicted Effect

probably benign
Transcript: ENSMUST00000224581
AA Change: I320T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000224882

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	T	9: 122,086,127 (GRCm39)	Y491N	probably damaging	Het
Cacna2d1	T	C	5: 16,558,840 (GRCm39)	F709L	probably damaging	Het
Cage1	T	C	13: 38,190,153 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,736,373 (GRCm39)	C2888S	probably benign	Het
Cfap52	T	C	11: 67,844,932 (GRCm39)	T46A	possibly damaging	Het
Cyp2d26	T	C	15: 82,677,462 (GRCm39)	M76V	probably benign	Het
Fermt3	A	T	19: 6,976,748 (GRCm39)	D653E	probably benign	Het
Foxj3	A	G	4: 119,467,180 (GRCm39)		probably benign	Het
Gm21985	T	A	2: 112,097,281 (GRCm39)	S39T	probably damaging	Het
Herc1	A	T	9: 66,386,228 (GRCm39)	D3727V	probably benign	Het
Ifi208	A	T	1: 173,506,507 (GRCm39)	T97S	possibly damaging	Het
Iqgap1	T	C	7: 80,392,836 (GRCm39)	E709G	probably benign	Het
Itgb5	T	A	16: 33,723,208 (GRCm39)	H361Q	probably benign	Het
Mr1	T	A	1: 155,005,035 (GRCm39)	N335I	possibly damaging	Het
Nadsyn1	A	T	7: 143,351,582 (GRCm39)	F684I	probably damaging	Het
Nf1	A	T	11: 79,455,721 (GRCm39)	I2544F	probably benign	Het
Or6c1b	A	G	10: 129,272,806 (GRCm39)	T42A	probably damaging	Het
Pnp2	T	G	14: 51,200,654 (GRCm39)	S107A	probably benign	Het
Pomt1	A	G	2: 32,132,955 (GRCm39)	I184V	probably damaging	Het
Slc6a19	T	G	13: 73,834,300 (GRCm39)	M301L	probably benign	Het
Smarca5	T	C	8: 81,446,287 (GRCm39)	Y471C	probably damaging	Het
Syne2	A	T	12: 75,989,735 (GRCm39)		probably benign	Het
Tasor2	C	T	13: 3,624,553 (GRCm39)	C1799Y	probably damaging	Het
Tex55	T	C	16: 38,649,052 (GRCm39)	D19G	possibly damaging	Het
Trmt6	T	C	2: 132,650,618 (GRCm39)	N330S	probably null	Het
Tsc22d1	T	C	14: 76,656,077 (GRCm39)	V770A	probably benign	Het
Ttll6	A	G	11: 96,042,840 (GRCm39)	D462G	probably benign	Het
Ttn	T	C	2: 76,775,393 (GRCm39)	H1883R	probably damaging	Het
Ubxn10	C	T	4: 138,448,050 (GRCm39)	V209M	probably damaging	Het
Urb1	T	C	16: 90,585,002 (GRCm39)	T540A	probably benign	Het
Vmn2r17	A	T	5: 109,600,756 (GRCm39)	R685W	probably damaging	Het
Vps4a	C	T	8: 107,763,335 (GRCm39)	R30C	probably damaging	Het
Xpo6	A	G	7: 125,703,985 (GRCm39)	V1055A	probably damaging	Het
Zfp445	C	T	9: 122,681,043 (GRCm39)	C966Y	probably damaging	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
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
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

2016-08-02