Mutagenetix > Incidental Mutation

Incidental Mutation 'R4410:Cadps'

327876

Institutional Source

Beutler Lab

Gene Symbol

Cadps

Ensembl Gene

ENSMUSG00000054423

Gene Name

Ca2+-dependent secretion activator

Synonyms

CAPS1

MMRRC Submission

041692-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4410 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

9646684-10097200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12822323 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 139 (M139T)

Ref Sequence

ENSEMBL: ENSMUSP00000136076 (fasta)

Gene Model

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

AlphaFold

Q80TJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000067491
AA Change: M139T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064706
Gene: ENSMUSG00000054423
AA Change: M139T

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: M139T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108276
Gene: ENSMUSG00000054423
AA Change: M139T

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: M139T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108277
Gene: ENSMUSG00000054423
AA Change: M139T

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: M139T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136076
Gene: ENSMUSG00000054423
AA Change: M139T

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: M139T

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.3328

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (46/48)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	T	15: 76,609,712 (GRCm39)		probably benign	Het
Arrb1	G	T	7: 99,247,503 (GRCm39)		probably benign	Het
Casr	A	G	16: 36,320,703 (GRCm39)	C482R	probably benign	Het
Cdca4	A	T	12: 112,785,499 (GRCm39)	H76Q	probably benign	Het
Ddias	A	G	7: 92,507,287 (GRCm39)	L876P	probably benign	Het
Dnah9	T	C	11: 65,976,303 (GRCm39)	S1249G	possibly damaging	Het
Dnttip1	A	G	2: 164,609,739 (GRCm39)		probably benign	Het
Eme2	A	G	17: 25,112,598 (GRCm39)	S160P	probably benign	Het
Fbxw24	A	T	9: 109,437,256 (GRCm39)	D210E	probably damaging	Het
Folr2	T	C	7: 101,489,881 (GRCm39)	E129G	probably damaging	Het
Herc6	T	A	6: 57,636,664 (GRCm39)	N793K	possibly damaging	Het
Iqcg	T	G	16: 32,851,186 (GRCm39)	K262Q	possibly damaging	Het
Lhfpl3	A	G	5: 22,980,690 (GRCm39)		probably benign	Het
Lmod2	A	C	6: 24,604,629 (GRCm39)	S535R	probably damaging	Het
Lrp1b	T	A	2: 40,555,094 (GRCm39)	S342C	possibly damaging	Het
Lrrn3	T	A	12: 41,502,583 (GRCm39)	Y578F	possibly damaging	Het
Map3k4	T	A	17: 12,467,885 (GRCm39)	R1050W	probably damaging	Het
Muc6	T	A	7: 141,217,576 (GRCm39)	T2301S	possibly damaging	Het
Mycbp2	T	C	14: 103,372,702 (GRCm39)	E4048G	probably damaging	Het
Myh3	G	C	11: 66,975,858 (GRCm39)	E297Q	possibly damaging	Het
Nkain3	A	G	4: 20,778,284 (GRCm39)	V11A	probably benign	Het
Or4c102	G	A	2: 88,422,765 (GRCm39)	V206I	probably benign	Het
P3h2	G	C	16: 25,924,040 (GRCm39)	R132G	possibly damaging	Het
Pals2	C	T	6: 50,175,248 (GRCm39)	Q520*	probably null	Het
Phgdh	A	G	3: 98,221,591 (GRCm39)	M447T	probably benign	Het
Pmfbp1	G	A	8: 110,258,695 (GRCm39)	A667T	probably benign	Het
Pramel41	A	T	5: 94,593,720 (GRCm39)	Q15L	probably benign	Het
Psmd2	T	G	16: 20,473,776 (GRCm39)	C230G	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Slc37a3	T	A	6: 39,315,747 (GRCm39)	Y443F	probably benign	Het
Sorl1	C	A	9: 41,915,288 (GRCm39)	G1314*	probably null	Het
Spag7	T	C	11: 70,555,688 (GRCm39)	D83G	probably damaging	Het
St7	C	T	6: 17,854,932 (GRCm39)	R267*	probably null	Het
Syne2	C	T	12: 76,141,167 (GRCm39)	S99L	probably damaging	Het
Tacc2	T	G	7: 130,343,941 (GRCm39)	S2533R	possibly damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Uaca	T	G	9: 60,777,173 (GRCm39)	V518G	probably damaging	Het
Usp43	T	C	11: 67,746,716 (GRCm39)	E992G	probably benign	Het
Vmn1r55	A	G	7: 5,150,075 (GRCm39)	V116A	probably benign	Het
Wdr3	G	A	3: 100,047,543 (GRCm39)	T844M	probably benign	Het
Wdr7	T	A	18: 63,911,320 (GRCm39)	M904K	probably damaging	Het
Zbtb39	A	G	10: 127,578,696 (GRCm39)	I423M	possibly damaging	Het
Zmym1	A	T	4: 126,941,897 (GRCm39)	C830*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACATCTCCCGAGTCAAGCTG -3'
(R):5'- TGACCTAGGAAGAAGCGCCTAC -3'

Sequencing Primer
(F):5'- AGTCAAGCTGGGCGGTG -3'
(R):5'- TTTTGCACCCCAAGGCG -3'

Posted On

2015-07-07