Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:Cadps'

355854

Institutional Source

Beutler Lab

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 #

R4698 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

12372563-12823079 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12705654 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 247 (E247G)

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: E247G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064706
Gene: ENSMUSG00000054423
AA Change: E247G

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

possibly damaging
Transcript: ENSMUST00000112657
AA Change: E247G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108276
Gene: ENSMUSG00000054423
AA Change: E247G

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

possibly damaging
Transcript: ENSMUST00000112658
AA Change: E247G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108277
Gene: ENSMUSG00000054423
AA Change: E247G

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

possibly damaging
Transcript: ENSMUST00000177814
AA Change: E247G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136076
Gene: ENSMUSG00000054423
AA Change: E247G

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

possibly damaging
Transcript: ENSMUST00000224882
AA Change: E247G

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	G	17: 48,038,240 (GRCm38)	V11A	possibly damaging	Het
6030452D12Rik	T	C	8: 106,504,347 (GRCm38)	I55T	unknown	Het
Aadacl2	A	G	3: 60,025,039 (GRCm38)	D325G	probably benign	Het
Adh1	A	G	3: 138,282,513 (GRCm38)	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,044 (GRCm38)		probably null	Het
Aicda	C	T	6: 122,553,888 (GRCm38)		probably benign	Het
Aifm2	T	C	10: 61,727,756 (GRCm38)	M135T	probably benign	Het
Asah2	T	C	19: 32,054,471 (GRCm38)		probably null	Het
Btbd17	T	C	11: 114,791,717 (GRCm38)	R390G	probably damaging	Het
Cds2	T	C	2: 132,304,953 (GRCm38)	I383T	probably damaging	Het
Celf3	T	A	3: 94,484,867 (GRCm38)		probably null	Het
Crhr2	T	C	6: 55,102,867 (GRCm38)	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,504,774 (GRCm38)	K91*	probably null	Het
Ddx60	A	C	8: 62,012,424 (GRCm38)	M1372L	probably benign	Het
Dnah2	A	T	11: 69,498,532 (GRCm38)	F845I	probably damaging	Het
Dscam	T	C	16: 96,610,324 (GRCm38)	D1784G	probably damaging	Het
Ech1	T	C	7: 28,832,053 (GRCm38)	V310A	probably benign	Het
Eef1g	A	G	19: 8,977,966 (GRCm38)	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,972,544 (GRCm38)	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,900,261 (GRCm38)	F192L	probably damaging	Het
Gpr153	T	A	4: 152,281,783 (GRCm38)	S268R	probably damaging	Het
Hist2h3b	C	A	3: 96,269,078 (GRCm38)	R129S	probably damaging	Het
Ivl	T	C	3: 92,571,391 (GRCm38)	K456E	unknown	Het
Kif20b	A	T	19: 34,951,544 (GRCm38)	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,956,305 (GRCm38)	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,579,350 (GRCm38)	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,372,291 (GRCm38)	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,504,104 (GRCm38)	E165G	possibly damaging	Het
Mios	T	C	6: 8,228,113 (GRCm38)	Y677H	possibly damaging	Het
Mnx1	T	A	5: 29,474,059 (GRCm38)	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724 (GRCm38)	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,411,137 (GRCm38)	D623E	probably benign	Het
Nedd4l	A	G	18: 65,203,880 (GRCm38)	Y666C	probably damaging	Het
Olfr1022	A	G	2: 85,869,252 (GRCm38)	Y220C	possibly damaging	Het
Olfr1445	T	G	19: 12,884,621 (GRCm38)	F247V	probably benign	Het
Olfr204	T	C	16: 59,315,357 (GRCm38)	T17A	probably damaging	Het
Olfr605	T	A	7: 103,442,635 (GRCm38)	I163F	possibly damaging	Het
Papss1	G	T	3: 131,607,331 (GRCm38)	V369F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,769 (GRCm38)	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,310,931 (GRCm38)	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,356,952 (GRCm38)	D445G	probably damaging	Het
Plekho1	T	A	3: 95,995,652 (GRCm38)	N15I	possibly damaging	Het
Pprc1	T	C	19: 46,069,195 (GRCm38)		probably benign	Het
Ralgapa1	A	T	12: 55,677,276 (GRCm38)		probably null	Het
Rrp12	T	C	19: 41,873,042 (GRCm38)	E942G	probably benign	Het
Skor1	T	C	9: 63,144,548 (GRCm38)	D685G	probably benign	Het
Smim23	A	T	11: 32,824,510 (GRCm38)	I3N	possibly damaging	Het
Spata7	A	T	12: 98,664,277 (GRCm38)	I333F	probably damaging	Het
Sppl2c	T	C	11: 104,188,315 (GRCm38)	I647T	probably benign	Het
Srgap1	C	A	10: 121,792,487 (GRCm38)	R837L	probably benign	Het
Stpg2	C	A	3: 139,309,229 (GRCm38)	P385H	probably damaging	Het
Tmem238	C	A	7: 4,789,017 (GRCm38)	E19*	probably null	Het
Top2b	A	T	14: 16,387,331 (GRCm38)	K140*	probably null	Het
Trp53	T	A	11: 69,588,422 (GRCm38)	L142*	probably null	Het
Tyro3	A	T	2: 119,803,270 (GRCm38)	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636 (GRCm38)	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,011,337 (GRCm38)		probably benign	Het
Zbtb10	T	C	3: 9,264,550 (GRCm38)	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,845,603 (GRCm38)	N584K	probably damaging	Het
Zfp944	A	G	17: 22,339,199 (GRCm38)	C356R	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
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
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'- CAAGAAGTGACTCTTGAAAGTGGTTC -3'
(R):5'- TCTCAAGAGTGACCGTGTGG -3'

Sequencing Primer
(F):5'- TGAAAGTGGTTCCACTGACC -3'
(R):5'- GCCCGCATGGTGCAGAG -3'

Posted On

2015-10-21