Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01675:Cadps2'

103613

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cadps2

Ensembl Gene

ENSMUSG00000017978

Gene Name

Ca2+-dependent activator protein for secretion 2

Synonyms

Caps2, A230044C21Rik, cpd2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01675

Quality Score

Status

Chromosome

Chromosomal Location

23262772-23839420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23382904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 790 (L790I)

Ref Sequence

ENSEMBL: ENSMUSP00000138167 (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 damaging
Transcript: ENSMUST00000018122
AA Change: L819I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978
AA Change: L819I

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: L822I

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978
AA Change: L822I

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 damaging
Transcript: ENSMUST00000115358
AA Change: L819I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978
AA Change: L819I

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 damaging
Transcript: ENSMUST00000115361
AA Change: L819I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978
AA Change: L819I

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 damaging
Transcript: ENSMUST00000125350
AA Change: L464I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115866
Gene: ENSMUSG00000017978
AA Change: L464I

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 damaging
Transcript: ENSMUST00000142913
AA Change: L790I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978
AA Change: L790I

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

probably benign
Transcript: ENSMUST00000163871
AA Change: L819I

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978
AA Change: L819I

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: L790I

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978
AA Change: L790I

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

Validation Efficiency

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Hecw1	C	T	13: 14,409,007 (GRCm39)	R1100Q	probably damaging	Het
Itga7	T	C	10: 128,782,724 (GRCm39)	L691P	probably damaging	Het
Kcnh1	A	G	1: 192,019,901 (GRCm39)	D382G	probably benign	Het
Kcnh5	A	T	12: 75,161,274 (GRCm39)	C211*	probably null	Het
Lama2	T	C	10: 27,064,050 (GRCm39)	T1276A	possibly damaging	Het
Magea10	A	G	X: 71,426,721 (GRCm39)	V91A	probably benign	Het
Mtor	A	G	4: 148,569,111 (GRCm39)	T1143A	probably benign	Het
Pira13	A	C	7: 3,825,607 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,089,539 (GRCm39)	Q763R	probably damaging	Het
Slirp	G	A	12: 87,490,787 (GRCm39)	A24T	probably damaging	Het
Tlr6	A	T	5: 65,111,842 (GRCm39)	I355N	probably damaging	Het
Tyw5	G	A	1: 57,427,791 (GRCm39)	A271V	possibly damaging	Het
Vav3	G	A	3: 109,571,729 (GRCm39)	G217D	probably benign	Het
Vmn2r65	A	G	7: 84,596,587 (GRCm39)	I156T	probably benign	Het
Vmn2r79	A	G	7: 86,645,856 (GRCm39)	N62D	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
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
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

Posted On

2014-01-21