Mutagenetix > Incidental Mutation

Incidental Mutation 'R6323:Cadps2'

510198

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

044477-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6323 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23262772-23839420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23263577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1294 (T1294S)

Ref Sequence

ENSEMBL: ENSMUSP00000018122 (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
AA Change: T1294S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978
AA Change: T1294S

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
AA Change: T1287S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978
AA Change: T1287S

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
AA Change: T1254S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978
AA Change: T1254S

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
AA Change: T1249S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978
AA Change: T1249S

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
AA Change: T889S

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

SMART Domains

Protein: ENSMUSP00000115866
Gene: ENSMUSG00000017978
AA Change: T889S

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
AA Change: T1265S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978
AA Change: T1265S

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

probably benign
Transcript: ENSMUST00000163871
AA Change: T1294S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978
AA Change: T1294S

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
AA Change: T1265S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978
AA Change: T1265S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156986

Meta Mutation Damage Score

0.0672

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,436,568 (GRCm39)	T171A	unknown	Het
Akr1c6	A	G	13: 4,497,017 (GRCm39)	K153R	possibly damaging	Het
Ano1	T	A	7: 144,165,423 (GRCm39)	I601F	possibly damaging	Het
Arfgef2	A	G	2: 166,676,404 (GRCm39)	Y8C	probably damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz2a	A	G	10: 127,962,286 (GRCm39)	I1816V	probably benign	Het
Casz1	T	C	4: 149,026,161 (GRCm39)	S952P	possibly damaging	Het
Cdc20	T	C	4: 118,292,761 (GRCm39)	N329S	probably damaging	Het
Ceacam1	A	C	7: 25,174,076 (GRCm39)	L193R	probably damaging	Het
Celf5	A	G	10: 81,305,337 (GRCm39)	S143P	probably damaging	Het
Cfap74	A	G	4: 155,548,395 (GRCm39)	D1342G	possibly damaging	Het
Chd5	C	A	4: 152,451,791 (GRCm39)	T701K	probably damaging	Het
Cpt1b	C	A	15: 89,303,266 (GRCm39)	M596I	probably benign	Het
Ctrb1	A	G	8: 112,416,223 (GRCm39)	V21A	probably benign	Het
Diaph3	C	T	14: 87,203,889 (GRCm39)	V579I	probably benign	Het
Dlc1	T	C	8: 37,405,537 (GRCm39)	E84G	possibly damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Galns	T	C	8: 123,325,390 (GRCm39)	D254G	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Gstm1	A	G	3: 107,925,063 (GRCm39)	V10A	probably benign	Het
Krt13	C	A	11: 100,011,976 (GRCm39)	A116S	probably damaging	Het
Lars2	A	T	9: 123,270,659 (GRCm39)	K584*	probably null	Het
Lrrc43	G	T	5: 123,641,949 (GRCm39)	G600W	probably damaging	Het
Madd	G	T	2: 90,991,783 (GRCm39)		probably null	Het
Mnat1	A	G	12: 73,214,878 (GRCm39)	D65G	probably damaging	Het
Nsmf	A	G	2: 24,945,063 (GRCm39)	N42S	possibly damaging	Het
Or4k77	T	C	2: 111,199,046 (GRCm39)	L23P	possibly damaging	Het
Or5ac16	A	G	16: 59,022,645 (GRCm39)	L48P	probably damaging	Het
Palld	A	T	8: 62,173,727 (GRCm39)	W311R	probably damaging	Het
Pax1	T	A	2: 147,210,321 (GRCm39)	V352E	probably damaging	Het
Rnf2	T	C	1: 151,348,967 (GRCm39)	K51R	probably damaging	Het
Rpl7l1	C	A	17: 47,093,564 (GRCm39)		probably benign	Het
Slc1a6	G	A	10: 78,648,721 (GRCm39)	G481S	probably damaging	Het
Slc34a1	A	G	13: 23,998,969 (GRCm39)	I121V	probably benign	Het
Spata31h1	G	A	10: 82,118,916 (GRCm39)	T4698I	probably benign	Het
Trav6-1	T	C	14: 52,876,248 (GRCm39)	V56A	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r79	T	A	7: 86,650,522 (GRCm39)	C103S	probably benign	Het
Wwp2	A	T	8: 108,267,303 (GRCm39)	H305L	probably damaging	Het
Zfp593	A	G	4: 133,972,224 (GRCm39)	V94A	probably benign	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
R3982:Cadps2	UTSW	6	23,263,530 (GRCm39)	utr 3 prime	probably benign
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
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'- ATTCCAGTCACGAGCACAGC -3'
(R):5'- GACCTATGGGTATGTGCACACATC -3'

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

Posted On

2018-04-02