Mutagenetix > Incidental Mutation

Incidental Mutation 'R3982:Cadps2'

345307

Institutional Source

Beutler Lab

Gene Symbol

Cadps2

Ensembl Gene

ENSMUSG00000017978

Gene Name

Ca2+-dependent activator protein for secretion 2

Synonyms

Caps2, A230044C21Rik, cpd2

MMRRC Submission

041608-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3982 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23262772-23839420 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 23263530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018122] [ENSMUST00000069074] [ENSMUST00000115358] [ENSMUST00000115361] [ENSMUST00000125350] [ENSMUST00000142913] [ENSMUST00000163871] [ENSMUST00000166458]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018122

SMART Domains

Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	902	1.14e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069074

SMART Domains

Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	895	5.54e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115358

SMART Domains

Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	902	1.14e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115361

SMART Domains

Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	892	1.9e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125350

SMART Domains

Protein: ENSMUSP00000115866
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
C2	14	112	1.51e-1	SMART
PH	137	241	2.94e-11	SMART
DUF1041	446	537	1.9e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142913

SMART Domains

Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	22	39	N/A	INTRINSIC
low complexity region	85	97	N/A	INTRINSIC
coiled coil region	236	256	N/A	INTRINSIC
C2	340	438	1.51e-1	SMART
PH	463	567	2.94e-11	SMART
DUF1041	772	873	1.14e-52	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156986

Predicted Effect

probably benign
Transcript: ENSMUST00000163871

SMART Domains

Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	31	65	N/A	INTRINSIC
low complexity region	114	126	N/A	INTRINSIC
coiled coil region	265	285	N/A	INTRINSIC
C2	369	467	1.51e-1	SMART
PH	492	596	2.94e-11	SMART
DUF1041	801	902	7.2e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166458

SMART Domains

Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
low complexity region	85	97	N/A	INTRINSIC
coiled coil region	236	256	N/A	INTRINSIC
C2	340	438	1.51e-1	SMART
PH	463	567	2.94e-11	SMART
DUF1041	772	873	1.05e-51	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (40/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit defects in cerebellum, Purkinje cell and interneuron morphology, paired-pulse facilitation, and behaviors including emotional behavior, vestibuoocular reflex, circadium and sleep patterns, social investigation and nurturing behavior. [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
4921504E06Rik	A	G	2: 19,547,180 (GRCm39)		probably null	Het
Adgrg6	T	C	10: 14,324,589 (GRCm39)	N445S	probably benign	Het
Adgrl3	A	G	5: 81,842,373 (GRCm39)	T902A	possibly damaging	Het
Atf4	T	C	15: 80,141,069 (GRCm39)	V153A	probably benign	Het
Bsn	T	C	9: 107,984,365 (GRCm39)	T3230A	unknown	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Cth	A	T	3: 157,619,334 (GRCm39)	L163*	probably null	Het
Flnc	G	A	6: 29,442,940 (GRCm39)	V492M	probably damaging	Het
Frmd6	T	C	12: 70,934,608 (GRCm39)	L269P	probably damaging	Het
Gpr62	G	A	9: 106,342,085 (GRCm39)	A281V	probably benign	Het
Hapln1	T	A	13: 89,753,560 (GRCm39)	F242Y	probably benign	Het
Ighv1-39	A	T	12: 114,878,251 (GRCm39)	S107T	possibly damaging	Het
Itga8	A	G	2: 12,305,774 (GRCm39)	V72A	possibly damaging	Het
Kcp	A	T	6: 29,484,636 (GRCm39)	L1314Q	probably damaging	Het
Klre1	T	A	6: 129,560,101 (GRCm39)	C124*	probably null	Het
Lrrk2	T	A	15: 91,593,487 (GRCm39)	M482K	probably benign	Het
Man2b2	T	C	5: 36,971,164 (GRCm39)	N734S	probably benign	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mdga1	C	A	17: 30,150,238 (GRCm39)	A125S	unknown	Het
Mmd2	T	C	5: 142,550,554 (GRCm39)	Y228C	probably damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Nifk	T	A	1: 118,257,282 (GRCm39)	S138R	possibly damaging	Het
Nlrp4b	T	C	7: 10,448,358 (GRCm39)	V187A	possibly damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Pigo	A	T	4: 43,023,482 (GRCm39)	S231T	probably benign	Het
Pik3cb	G	A	9: 98,928,654 (GRCm39)	T867M	probably benign	Het
Plag1	A	T	4: 3,904,055 (GRCm39)	S379T	probably damaging	Het
Polg2	G	A	11: 106,670,028 (GRCm39)	R81*	probably null	Het
Prpf4b	C	T	13: 35,068,196 (GRCm39)		probably benign	Het
Ptprq	T	A	10: 107,379,257 (GRCm39)	I1981F	probably damaging	Het
Thoc2l	T	C	5: 104,668,889 (GRCm39)	V1137A	probably benign	Het
Usp24	G	A	4: 106,245,080 (GRCm39)	E1307K	probably benign	Het
Vmn2r115	T	A	17: 23,578,948 (GRCm39)	M807K	probably damaging	Het
Wee2	A	T	6: 40,432,175 (GRCm39)	N248I	possibly damaging	Het

Other mutations in Cadps2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Cadps2	APN	6	23,496,873 (GRCm39)	missense	possibly damaging	0.84
IGL01105:Cadps2	APN	6	23,321,699 (GRCm39)	splice site	probably benign
IGL01317:Cadps2	APN	6	23,314,172 (GRCm39)	missense	possibly damaging	0.76
IGL01409:Cadps2	APN	6	23,587,440 (GRCm39)	missense	probably damaging	1.00
IGL01477:Cadps2	APN	6	23,263,672 (GRCm39)	missense	probably damaging	1.00
IGL01620:Cadps2	APN	6	23,587,461 (GRCm39)	missense	probably benign	0.19
IGL01674:Cadps2	APN	6	23,355,851 (GRCm39)	missense	probably damaging	1.00
IGL01675:Cadps2	APN	6	23,382,904 (GRCm39)	missense	probably damaging	1.00
IGL01895:Cadps2	APN	6	23,427,274 (GRCm39)	missense	probably damaging	0.98
IGL02095:Cadps2	APN	6	23,427,309 (GRCm39)	missense	probably benign	0.01
IGL02200:Cadps2	APN	6	23,385,527 (GRCm39)	missense	probably damaging	1.00
IGL02380:Cadps2	APN	6	23,287,731 (GRCm39)	missense	probably benign	0.11
IGL02680:Cadps2	APN	6	23,838,895 (GRCm39)	missense	probably damaging	0.99
IGL02814:Cadps2	APN	6	23,321,706 (GRCm39)	missense	probably damaging	1.00
IGL02940:Cadps2	APN	6	23,496,808 (GRCm39)	missense	probably benign	0.08
IGL03061:Cadps2	APN	6	23,287,659 (GRCm39)	splice site	probably null
IGL03233:Cadps2	APN	6	23,263,600 (GRCm39)	missense	probably benign	0.10
R0193:Cadps2	UTSW	6	23,599,439 (GRCm39)	missense	probably benign	0.00
R0389:Cadps2	UTSW	6	23,321,781 (GRCm39)	missense	possibly damaging	0.88
R0571:Cadps2	UTSW	6	23,583,411 (GRCm39)	missense	probably damaging	1.00
R0595:Cadps2	UTSW	6	23,321,703 (GRCm39)	critical splice donor site	probably null
R0620:Cadps2	UTSW	6	23,583,395 (GRCm39)	missense	probably damaging	1.00
R0723:Cadps2	UTSW	6	23,287,697 (GRCm39)	missense	probably damaging	0.99
R0831:Cadps2	UTSW	6	23,321,739 (GRCm39)	missense	possibly damaging	0.88
R0836:Cadps2	UTSW	6	23,328,775 (GRCm39)	splice site	probably benign
R0942:Cadps2	UTSW	6	23,263,561 (GRCm39)	missense	probably damaging	1.00
R1099:Cadps2	UTSW	6	23,599,478 (GRCm39)	missense	probably damaging	1.00
R1120:Cadps2	UTSW	6	23,838,793 (GRCm39)	missense	probably damaging	1.00
R1216:Cadps2	UTSW	6	23,583,472 (GRCm39)	splice site	probably benign
R1575:Cadps2	UTSW	6	23,429,217 (GRCm39)	missense	probably damaging	1.00
R1780:Cadps2	UTSW	6	23,320,931 (GRCm39)	critical splice donor site	probably null
R1924:Cadps2	UTSW	6	23,688,857 (GRCm39)	missense	probably damaging	0.99
R1944:Cadps2	UTSW	6	23,599,479 (GRCm39)	missense	probably damaging	0.99
R1956:Cadps2	UTSW	6	23,287,685 (GRCm39)	missense	probably damaging	1.00
R1986:Cadps2	UTSW	6	23,323,379 (GRCm39)	missense	probably damaging	1.00
R2045:Cadps2	UTSW	6	23,839,121 (GRCm39)	missense	possibly damaging	0.73
R2146:Cadps2	UTSW	6	23,838,998 (GRCm39)	intron	probably benign
R2147:Cadps2	UTSW	6	23,838,998 (GRCm39)	intron	probably benign
R2148:Cadps2	UTSW	6	23,838,998 (GRCm39)	intron	probably benign
R2150:Cadps2	UTSW	6	23,838,998 (GRCm39)	intron	probably benign
R2219:Cadps2	UTSW	6	23,410,831 (GRCm39)	missense	probably damaging	1.00
R2264:Cadps2	UTSW	6	23,323,339 (GRCm39)	missense	probably benign	0.15
R2338:Cadps2	UTSW	6	23,838,977 (GRCm39)	splice site	probably benign
R3861:Cadps2	UTSW	6	23,355,860 (GRCm39)	missense	probably damaging	1.00
R3898:Cadps2	UTSW	6	23,528,125 (GRCm39)	missense	probably damaging	1.00
R4213:Cadps2	UTSW	6	23,599,462 (GRCm39)	missense	probably damaging	1.00
R4384:Cadps2	UTSW	6	23,412,987 (GRCm39)	missense	probably benign	0.18
R4432:Cadps2	UTSW	6	23,626,737 (GRCm39)	missense	probably damaging	0.99
R4609:Cadps2	UTSW	6	23,587,578 (GRCm39)	missense	probably damaging	1.00
R4806:Cadps2	UTSW	6	23,688,859 (GRCm39)	missense	probably damaging	0.96
R4977:Cadps2	UTSW	6	23,599,478 (GRCm39)	missense	probably damaging	1.00
R5174:Cadps2	UTSW	6	23,287,742 (GRCm39)	missense	probably damaging	1.00
R5267:Cadps2	UTSW	6	23,626,667 (GRCm39)	missense	possibly damaging	0.79
R5389:Cadps2	UTSW	6	23,329,103 (GRCm39)	missense	probably damaging	1.00
R5737:Cadps2	UTSW	6	23,328,804 (GRCm39)	missense	probably benign	0.28
R6074:Cadps2	UTSW	6	23,626,670 (GRCm39)	missense	probably damaging	1.00
R6254:Cadps2	UTSW	6	23,329,162 (GRCm39)	critical splice acceptor site	probably null
R6323:Cadps2	UTSW	6	23,263,577 (GRCm39)	missense	probably benign	0.04
R6463:Cadps2	UTSW	6	23,323,333 (GRCm39)	nonsense	probably null
R6907:Cadps2	UTSW	6	23,599,505 (GRCm39)	missense	probably damaging	1.00
R6940:Cadps2	UTSW	6	23,302,491 (GRCm39)	missense	probably damaging	1.00
R6964:Cadps2	UTSW	6	23,583,458 (GRCm39)	missense	probably damaging	1.00
R7079:Cadps2	UTSW	6	23,323,408 (GRCm39)	missense	probably damaging	1.00
R7139:Cadps2	UTSW	6	23,410,888 (GRCm39)	missense	probably damaging	1.00
R7156:Cadps2	UTSW	6	23,688,955 (GRCm39)	missense	probably benign	0.02
R7184:Cadps2	UTSW	6	23,583,428 (GRCm39)	missense	probably benign	0.18
R7325:Cadps2	UTSW	6	23,409,934 (GRCm39)	missense	unknown
R7526:Cadps2	UTSW	6	23,496,850 (GRCm39)	missense	probably damaging	1.00
R7546:Cadps2	UTSW	6	23,626,607 (GRCm39)	missense	probably benign	0.15
R7772:Cadps2	UTSW	6	23,390,445 (GRCm39)	missense	probably benign	0.00
R7870:Cadps2	UTSW	6	23,263,641 (GRCm39)	missense	probably benign	0.14
R8040:Cadps2	UTSW	6	23,412,942 (GRCm39)	splice site	probably benign
R8048:Cadps2	UTSW	6	23,838,862 (GRCm39)	missense	probably benign	0.14
R8082:Cadps2	UTSW	6	23,323,313 (GRCm39)	missense	probably damaging	1.00
R8100:Cadps2	UTSW	6	23,838,808 (GRCm39)	missense	probably damaging	1.00
R8115:Cadps2	UTSW	6	23,328,897 (GRCm39)	missense	probably benign	0.00
R8497:Cadps2	UTSW	6	23,355,918 (GRCm39)	missense	probably benign	0.27
R8768:Cadps2	UTSW	6	23,382,938 (GRCm39)	missense	probably damaging	1.00
R8783:Cadps2	UTSW	6	23,302,303 (GRCm39)	missense	possibly damaging	0.57
R8804:Cadps2	UTSW	6	23,496,805 (GRCm39)	missense	probably damaging	1.00
R8832:Cadps2	UTSW	6	23,587,536 (GRCm39)	missense	possibly damaging	0.52
R8848:Cadps2	UTSW	6	23,344,256 (GRCm39)	missense	probably damaging	1.00
R8854:Cadps2	UTSW	6	23,385,507 (GRCm39)	missense	probably damaging	1.00
R8896:Cadps2	UTSW	6	23,410,876 (GRCm39)	missense	probably damaging	1.00
R8910:Cadps2	UTSW	6	23,344,223 (GRCm39)	missense	probably benign	0.11
R8921:Cadps2	UTSW	6	23,302,300 (GRCm39)	missense	probably benign	0.00
R9228:Cadps2	UTSW	6	23,688,927 (GRCm39)	missense	probably benign	0.00
R9297:Cadps2	UTSW	6	23,496,887 (GRCm39)	missense	probably benign
R9318:Cadps2	UTSW	6	23,496,887 (GRCm39)	missense	probably benign
R9348:Cadps2	UTSW	6	23,344,262 (GRCm39)	missense	probably benign	0.20
R9447:Cadps2	UTSW	6	23,323,297 (GRCm39)	missense	probably damaging	0.96
R9484:Cadps2	UTSW	6	23,626,646 (GRCm39)	missense	probably benign	0.02
R9492:Cadps2	UTSW	6	23,427,238 (GRCm39)	missense	probably benign
R9630:Cadps2	UTSW	6	23,587,571 (GRCm39)	missense	probably benign	0.08
R9729:Cadps2	UTSW	6	23,382,982 (GRCm39)	missense	probably benign	0.28
Z1176:Cadps2	UTSW	6	23,321,800 (GRCm39)	missense	probably benign	0.24
Z1177:Cadps2	UTSW	6	23,838,817 (GRCm39)	missense	probably damaging	1.00
Z1177:Cadps2	UTSW	6	23,626,694 (GRCm39)	missense	probably damaging	1.00
Z1177:Cadps2	UTSW	6	23,385,477 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TCATATTCCAGTCACGAGCACAG -3'
(R):5'- AGGGATTTCCGATTGCAGGG -3'

Sequencing Primer
(F):5'- CGAGCACAGCCAATTTTTAGGTC -3'
(R):5'- CCGATTGCAGGGTGTGTTG -3'

Posted On

2015-09-25