Mutagenetix > Incidental Mutation

Incidental Mutation 'R5208:Cadps'

402177

Institutional Source

Beutler Lab

Gene Symbol

Cadps

Ensembl Gene

ENSMUSG00000054423

Gene Name

Ca2+-dependent secretion activator

Synonyms

CAPS1

MMRRC Submission

042783-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5208 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9646684-10097200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12457711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1057 (S1057P)

Ref Sequence

ENSEMBL: ENSMUSP00000064706 (fasta)

Gene Model

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

AlphaFold

Q80TJ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067491
AA Change: S1057P

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000064706
Gene: ENSMUSG00000054423
AA Change: S1057P

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: S1050P

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108276
Gene: ENSMUSG00000054423
AA Change: S1050P

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: S1051P

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108277
Gene: ENSMUSG00000054423
AA Change: S1051P

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: S1052P

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136076
Gene: ENSMUSG00000054423
AA Change: S1052P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224882

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,344,398 (GRCm39)	N58I	probably benign	Het
Adgra3	T	C	5: 50,168,857 (GRCm39)	D163G	probably damaging	Het
Alcam	C	A	16: 52,115,411 (GRCm39)	E236*	probably null	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Aplf	G	T	6: 87,619,008 (GRCm39)		probably null	Het
Arl4a	A	T	12: 40,086,744 (GRCm39)	M1K	probably null	Het
Asic4	A	G	1: 75,427,870 (GRCm39)	D132G	probably damaging	Het
Bbs12	T	C	3: 37,374,422 (GRCm39)	I290T	probably benign	Het
BC024139	A	G	15: 76,008,865 (GRCm39)	S290P	probably benign	Het
Bmp6	G	A	13: 38,653,673 (GRCm39)	A247T	probably benign	Het
Caprin1	A	C	2: 103,599,778 (GRCm39)		probably null	Het
Cdc42bpg	G	A	19: 6,371,750 (GRCm39)	R1343K	probably benign	Het
Cdk18	A	T	1: 132,045,218 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,403,243 (GRCm39)		probably null	Het
Cfhr1	A	T	1: 139,484,068 (GRCm39)		probably null	Het
Chn2	A	T	6: 54,272,786 (GRCm39)	I201F	probably damaging	Het
Chrdl2	A	G	7: 99,673,129 (GRCm39)	D175G	probably damaging	Het
Disp2	G	T	2: 118,622,286 (GRCm39)	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah3	C	G	7: 119,631,861 (GRCm39)	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,644,343 (GRCm39)	Y372*	probably null	Het
Eftud2	G	A	11: 102,732,011 (GRCm39)	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,691,545 (GRCm39)	S1170A	probably benign	Het
Gdpd4	A	C	7: 97,664,118 (GRCm39)	K572Q	probably benign	Het
Gm7356	T	C	17: 14,221,456 (GRCm39)	E191G	probably damaging	Het
Gm8674	A	T	13: 50,055,957 (GRCm39)		noncoding transcript	Het
Gulp1	T	G	1: 44,820,199 (GRCm39)	H235Q	probably benign	Het
Hormad1	T	C	3: 95,485,418 (GRCm39)	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,645,110 (GRCm39)	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,905,069 (GRCm39)	Y194F	possibly damaging	Het
Lars1	A	C	18: 42,350,622 (GRCm39)	S896A	probably benign	Het
Lonp1	A	G	17: 56,924,793 (GRCm39)	V538A	probably damaging	Het
Map3k14	A	T	11: 103,129,972 (GRCm39)	L315Q	probably damaging	Het
Met	T	A	6: 17,526,422 (GRCm39)	Y500*	probably null	Het
Mga	T	G	2: 119,778,462 (GRCm39)	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,313,078 (GRCm39)	I152L	probably benign	Het
Mthfsd	G	A	8: 121,835,058 (GRCm39)		probably benign	Het
Mup4	A	G	4: 59,958,119 (GRCm39)	F150L	probably damaging	Het
Mybph	T	A	1: 134,121,273 (GRCm39)	V11D	probably benign	Het
Or4f54	A	T	2: 111,122,946 (GRCm39)	E111V	probably damaging	Het
Or52n2c	A	G	7: 104,574,933 (GRCm39)	F13L	probably benign	Het
Or5ak20	T	A	2: 85,184,142 (GRCm39)	I43F	probably benign	Het
Pde4a	T	C	9: 21,114,854 (GRCm39)		probably null	Het
Pex2	C	T	3: 5,626,428 (GRCm39)	R127H	probably benign	Het
Pgap3	A	G	11: 98,288,874 (GRCm39)	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,202,467 (GRCm39)	V14A	probably benign	Het
Psg25	A	T	7: 18,260,460 (GRCm39)	I146N	probably benign	Het
Ptprn2	A	G	12: 116,822,548 (GRCm39)	Y209C	probably damaging	Het
Scart2	C	A	7: 139,877,949 (GRCm39)	A977D	probably benign	Het
Sema4c	T	A	1: 36,589,407 (GRCm39)	D573V	probably damaging	Het
Setx	A	T	2: 29,056,379 (GRCm39)	I2192F	possibly damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Sp4	A	G	12: 118,263,281 (GRCm39)	L255P	probably damaging	Het
Spaca7	A	G	8: 12,636,456 (GRCm39)	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,657,891 (GRCm39)	I390L	possibly damaging	Het
Tars2	A	G	3: 95,654,905 (GRCm39)	W128R	probably damaging	Het
Tll1	G	A	8: 64,504,527 (GRCm39)	T623M	probably damaging	Het
Tmem129	A	T	5: 33,812,850 (GRCm39)	V166E	probably damaging	Het
Tmem200a	T	A	10: 25,870,051 (GRCm39)	I73F	probably benign	Het
Tnks1bp1	T	C	2: 84,900,976 (GRCm39)	M1561T	probably damaging	Het
Zfat	A	T	15: 68,052,570 (GRCm39)	I401N	probably damaging	Het
Zfp142	A	T	1: 74,610,027 (GRCm39)	V1153E	probably benign	Het
Zwilch	T	C	9: 64,060,205 (GRCm39)	I354V	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
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
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'- GGGTGTTAGACAAATCGTTACTGC -3'
(R):5'- GCCGCATCTACATTGTCACTG -3'

Sequencing Primer
(F):5'- GTCTTATAAACACGATGAATGCCAG -3'
(R):5'- CGCATCTACATTGTCACTGTGATGG -3'

Posted On

2016-07-22