Mutagenetix > Incidental Mutation

Incidental Mutation 'R1956:Cadps2'

217784

Institutional Source

Beutler Lab

Gene Symbol

Cadps2

Ensembl Gene

ENSMUSG00000017978

Gene Name

Ca2+-dependent activator protein for secretion 2

Synonyms

Caps2, cpd2, A230044C21Rik

MMRRC Submission

039970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1956 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23262773-23839421 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23287686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1160 (M1160K)

Ref Sequence

ENSEMBL: ENSMUSP00000111018 (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: M1205K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978
AA Change: M1205K

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: M1198K

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

SMART Domains

Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978
AA Change: M1198K

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: M1165K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978
AA Change: M1165K

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: M1160K

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

SMART Domains

Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978
AA Change: M1160K

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: M800K

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115866
Gene: ENSMUSG00000017978
AA Change: M800K

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: M1176K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978
AA Change: M1176K

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
AA Change: M1205K

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

SMART Domains

Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978
AA Change: M1205K

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: M1176K

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

SMART Domains

Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978
AA Change: M1176K

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: 98.5%
10x: 96.8%
20x: 94.2%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,970,105		probably null	Het
2610044O15Rik8	A	T	8: 129,221,828	D41E	possibly damaging	Het
Aard	A	T	15: 52,044,920	D157V	probably damaging	Het
Abcg5	A	G	17: 84,670,375	V151A	probably damaging	Het
Acss3	A	G	10: 106,936,168	V682A	probably benign	Het
Adamts9	A	T	6: 92,859,849	C641S	probably damaging	Het
Adipor1	T	C	1: 134,423,033	S7P	probably benign	Het
Ankrd27	T	A	7: 35,603,839	Y215N	probably damaging	Het
Arhgef7	T	A	8: 11,805,266	L182Q	probably damaging	Het
Arnt	C	T	3: 95,448,393	S16L	possibly damaging	Het
Arrdc4	T	C	7: 68,741,799	K240R	probably benign	Het
Atg2b	T	C	12: 105,669,418	Y197C	probably damaging	Het
Atp13a2	A	G	4: 141,004,261	K907R	possibly damaging	Het
Ccdc105	A	G	10: 78,750,539		probably null	Het
Cdk12	A	G	11: 98,219,216	T688A	probably benign	Het
Cfap43	T	A	19: 47,897,210	Y322F	probably benign	Het
Crabp2	T	C	3: 87,948,886	F16L	probably damaging	Het
Creb3	A	G	4: 43,563,279		probably null	Het
Crk	T	C	11: 75,692,670	Y239H	possibly damaging	Het
Cyp3a13	A	G	5: 137,909,942	I215T	probably benign	Het
D130043K22Rik	A	G	13: 24,885,595	Y879C	probably damaging	Het
Depdc5	T	C	5: 32,903,831	V334A	probably damaging	Het
Dgkh	T	C	14: 78,618,541	N231S	probably damaging	Het
Disp2	T	A	2: 118,792,223	H1145Q	probably benign	Het
Epb41l4b	T	C	4: 57,038,553	T563A	possibly damaging	Het
Ephb3	G	A	16: 21,221,382	R498H	probably damaging	Het
F10	T	C	8: 13,055,422	I329T	probably damaging	Het
Fam13b	G	T	18: 34,445,329	Q760K	possibly damaging	Het
Fmo4	G	A	1: 162,803,690	T236I	probably benign	Het
Foxp4	C	T	17: 47,875,871	R378Q	unknown	Het
Fpr-rs4	A	G	17: 18,022,256	Y175C	probably damaging	Het
Fzd8	T	A	18: 9,214,502	M528K	probably damaging	Het
Gcc2	A	G	10: 58,286,143	H1134R	possibly damaging	Het
Gdf10	G	A	14: 33,932,753	A406T	probably benign	Het
Ggn	T	A	7: 29,171,916	S240R	probably damaging	Het
Git2	C	T	5: 114,749,337	W299*	probably null	Het
Gm42669	A	T	5: 107,508,872	E355D	possibly damaging	Het
Gm5134	T	C	10: 76,004,846	F508S	possibly damaging	Het
Gm9923	G	T	10: 72,309,660	V114L	probably benign	Het
Has3	A	T	8: 106,878,803	Y547F	probably benign	Het
Heatr5a	A	G	12: 51,945,419		probably null	Het
Hnrnpk	A	T	13: 58,396,186		probably null	Het
Ifna4	A	T	4: 88,842,074	I72F	probably damaging	Het
Ip6k3	A	T	17: 27,151,168	L92Q	probably benign	Het
Itpripl1	T	C	2: 127,142,007	E65G	probably damaging	Het
Kcnh5	G	C	12: 74,897,584	Q964E	probably benign	Het
Kmt2d	A	G	15: 98,859,590		probably benign	Het
Lrrc69	A	G	4: 14,665,986	V324A	possibly damaging	Het
Mefv	T	C	16: 3,717,827	Q79R	probably damaging	Het
Mettl17	T	C	14: 51,888,797	S168P	probably damaging	Het
Mpp4	A	T	1: 59,158,652	S23T	probably benign	Het
Nabp1	A	T	1: 51,477,845	V24D	probably damaging	Het
Nod2	T	A	8: 88,664,208	F359Y	probably damaging	Het
Olfr1355	A	G	10: 78,879,433	Q87R	probably benign	Het
Olfr1461	T	C	19: 13,165,196	Y61H	probably damaging	Het
Olfr1511	C	T	14: 52,390,580	M64I	probably benign	Het
Olfr2	C	T	7: 107,001,135	A242T	probably damaging	Het
Olfr406	A	T	11: 74,269,844	T152S	probably damaging	Het
Olfr64	T	G	7: 103,893,718	S6R	probably benign	Het
Olfr653	C	A	7: 104,579,909	L88M	probably damaging	Het
Olfr987	T	C	2: 85,331,100	D266G	probably benign	Het
Pcdh18	T	C	3: 49,755,951	H305R	probably benign	Het
Phf1	T	A	17: 26,935,745		probably null	Het
Pold3	T	C	7: 100,088,111	K379R	probably benign	Het
Pou2f3	T	A	9: 43,145,237	T108S	probably benign	Het
Prdm5	C	A	6: 65,936,076	T203K	probably damaging	Het
Psma5	A	G	3: 108,266,444	S79G	probably benign	Het
Psme4	T	A	11: 30,832,424	S889T	probably damaging	Het
Ptk2	A	T	15: 73,215,983	V902D	possibly damaging	Het
Rad54l	T	A	4: 116,110,357	I243F	probably damaging	Het
Ralgapa2	A	G	2: 146,460,759	F95L	probably benign	Het
Rassf6	G	A	5: 90,615,871	Q71*	probably null	Het
Ryr2	A	T	13: 11,681,080	L2967H	probably damaging	Het
Scn5a	T	C	9: 119,517,413	T1058A	possibly damaging	Het
Sdk1	T	C	5: 142,094,581	L1276P	probably damaging	Het
Serpina12	T	G	12: 104,035,789	T223P	probably damaging	Het
Sh3yl1	A	G	12: 30,942,788		probably null	Het
St6galnac5	T	A	3: 152,846,483	Q149L	probably benign	Het
Stam2	T	C	2: 52,708,227		probably null	Het
Tac2	A	G	10: 127,728,480		probably null	Het
Tbata	G	A	10: 61,183,477	D271N	probably damaging	Het
Tbx3	T	C	5: 119,680,953	V531A	probably benign	Het
Thra	T	A	11: 98,763,741	D312E	probably benign	Het
Tlr1	T	A	5: 64,925,177	I686F	probably damaging	Het
Tmem86b	A	T	7: 4,628,707	F115L	probably benign	Het
Tmem94	A	G	11: 115,788,674	D259G	possibly damaging	Het
Trim69	G	A	2: 122,174,475		probably null	Het
Twistnb	T	A	12: 33,437,818	V244D	probably benign	Het
Usp43	T	A	11: 67,904,333	Q243L	probably damaging	Het
Vcam1	T	C	3: 116,125,957	Y226C	probably damaging	Het
Vmn2r104	A	T	17: 20,042,051	N272K	probably damaging	Het
Vmn2r26	G	A	6: 124,053,887	C527Y	probably damaging	Het
Vmn2r84	G	A	10: 130,390,808	A387V	probably benign	Het
Vps13b	A	T	15: 35,869,407	I2686F	probably damaging	Het
Vps8	C	T	16: 21,461,142	T281M	probably damaging	Het
Wdfy3	A	G	5: 101,919,409	V1219A	probably benign	Het
Wnt9b	A	G	11: 103,730,812	C340R	probably damaging	Het
Zfhx3	T	C	8: 108,794,142	V632A	probably benign	Het
Zfp341	A	T	2: 154,638,212	T528S	probably benign	Het
Zfp990	G	A	4: 145,534,882	A33T	probably damaging	Het
Zranb1	T	G	7: 132,982,729	S601R	probably damaging	Het
Zyx	A	T	6: 42,351,355	K166I	probably damaging	Het

Other mutations in Cadps2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Cadps2	APN	6	23496874	missense	possibly damaging	0.84
IGL01105:Cadps2	APN	6	23321700	splice site	probably benign
IGL01317:Cadps2	APN	6	23314173	missense	possibly damaging	0.76
IGL01409:Cadps2	APN	6	23587441	missense	probably damaging	1.00
IGL01477:Cadps2	APN	6	23263673	missense	probably damaging	1.00
IGL01620:Cadps2	APN	6	23587462	missense	probably benign	0.19
IGL01674:Cadps2	APN	6	23355852	missense	probably damaging	1.00
IGL01675:Cadps2	APN	6	23382905	missense	probably damaging	1.00
IGL01895:Cadps2	APN	6	23427275	missense	probably damaging	0.98
IGL02095:Cadps2	APN	6	23427310	missense	probably benign	0.01
IGL02200:Cadps2	APN	6	23385528	missense	probably damaging	1.00
IGL02380:Cadps2	APN	6	23287732	missense	probably benign	0.11
IGL02680:Cadps2	APN	6	23838896	missense	probably damaging	0.99
IGL02814:Cadps2	APN	6	23321707	missense	probably damaging	1.00
IGL02940:Cadps2	APN	6	23496809	missense	probably benign	0.08
IGL03061:Cadps2	APN	6	23287660	splice site	probably null
IGL03233:Cadps2	APN	6	23263601	missense	probably benign	0.10
R0193:Cadps2	UTSW	6	23599440	missense	probably benign	0.00
R0389:Cadps2	UTSW	6	23321782	missense	possibly damaging	0.88
R0571:Cadps2	UTSW	6	23583412	missense	probably damaging	1.00
R0595:Cadps2	UTSW	6	23321704	critical splice donor site	probably null
R0620:Cadps2	UTSW	6	23583396	missense	probably damaging	1.00
R0723:Cadps2	UTSW	6	23287698	missense	probably damaging	0.99
R0831:Cadps2	UTSW	6	23321740	missense	possibly damaging	0.88
R0836:Cadps2	UTSW	6	23328776	splice site	probably benign
R0942:Cadps2	UTSW	6	23263562	missense	probably damaging	1.00
R1099:Cadps2	UTSW	6	23599479	missense	probably damaging	1.00
R1120:Cadps2	UTSW	6	23838794	missense	probably damaging	1.00
R1216:Cadps2	UTSW	6	23583473	splice site	probably benign
R1575:Cadps2	UTSW	6	23429218	missense	probably damaging	1.00
R1780:Cadps2	UTSW	6	23320932	critical splice donor site	probably null
R1924:Cadps2	UTSW	6	23688858	missense	probably damaging	0.99
R1944:Cadps2	UTSW	6	23599480	missense	probably damaging	0.99
R1986:Cadps2	UTSW	6	23323380	missense	probably damaging	1.00
R2045:Cadps2	UTSW	6	23839122	missense	possibly damaging	0.73
R2146:Cadps2	UTSW	6	23838999	intron	probably benign
R2147:Cadps2	UTSW	6	23838999	intron	probably benign
R2148:Cadps2	UTSW	6	23838999	intron	probably benign
R2150:Cadps2	UTSW	6	23838999	intron	probably benign
R2219:Cadps2	UTSW	6	23410832	missense	probably damaging	1.00
R2264:Cadps2	UTSW	6	23323340	missense	probably benign	0.15
R2338:Cadps2	UTSW	6	23838978	splice site	probably benign
R3861:Cadps2	UTSW	6	23355861	missense	probably damaging	1.00
R3898:Cadps2	UTSW	6	23528126	missense	probably damaging	1.00
R3982:Cadps2	UTSW	6	23263531	utr 3 prime	probably benign
R4213:Cadps2	UTSW	6	23599463	missense	probably damaging	1.00
R4384:Cadps2	UTSW	6	23412988	missense	probably benign	0.18
R4432:Cadps2	UTSW	6	23626738	missense	probably damaging	0.99
R4609:Cadps2	UTSW	6	23587579	missense	probably damaging	1.00
R4806:Cadps2	UTSW	6	23688860	missense	probably damaging	0.96
R4977:Cadps2	UTSW	6	23599479	missense	probably damaging	1.00
R5174:Cadps2	UTSW	6	23287743	missense	probably damaging	1.00
R5267:Cadps2	UTSW	6	23626668	missense	possibly damaging	0.79
R5389:Cadps2	UTSW	6	23329104	missense	probably damaging	1.00
R5737:Cadps2	UTSW	6	23328805	missense	probably benign	0.28
R6074:Cadps2	UTSW	6	23626671	missense	probably damaging	1.00
R6254:Cadps2	UTSW	6	23329163	critical splice acceptor site	probably null
R6323:Cadps2	UTSW	6	23263578	missense	probably benign	0.04
R6463:Cadps2	UTSW	6	23323334	nonsense	probably null
R6907:Cadps2	UTSW	6	23599506	missense	probably damaging	1.00
R6940:Cadps2	UTSW	6	23302492	missense	probably damaging	1.00
R6964:Cadps2	UTSW	6	23583459	missense	probably damaging	1.00
R7079:Cadps2	UTSW	6	23323409	missense	probably damaging	1.00
R7139:Cadps2	UTSW	6	23410889	missense	probably damaging	1.00
R7156:Cadps2	UTSW	6	23688956	missense	probably benign	0.02
R7184:Cadps2	UTSW	6	23583429	missense	probably benign	0.18
R7325:Cadps2	UTSW	6	23409935	missense	unknown
R7526:Cadps2	UTSW	6	23496851	missense	probably damaging	1.00
R7546:Cadps2	UTSW	6	23626608	missense	probably benign	0.15
R7772:Cadps2	UTSW	6	23390446	missense	probably benign	0.00
R7870:Cadps2	UTSW	6	23263642	missense	probably benign	0.14
R8040:Cadps2	UTSW	6	23412943	splice site	probably benign
R8048:Cadps2	UTSW	6	23838863	missense	probably benign	0.14
R8082:Cadps2	UTSW	6	23323314	missense	probably damaging	1.00
R8100:Cadps2	UTSW	6	23838809	missense	probably damaging	1.00
R8115:Cadps2	UTSW	6	23328898	missense	probably benign	0.00
R8497:Cadps2	UTSW	6	23355919	missense	probably benign	0.27
R8768:Cadps2	UTSW	6	23382939	missense	probably damaging	1.00
R8783:Cadps2	UTSW	6	23302304	missense	possibly damaging	0.57
R8804:Cadps2	UTSW	6	23496806	missense	probably damaging	1.00
R8832:Cadps2	UTSW	6	23587537	missense	possibly damaging	0.52
R8848:Cadps2	UTSW	6	23344257	missense	probably damaging	1.00
R8854:Cadps2	UTSW	6	23385508	missense	probably damaging	1.00
R8896:Cadps2	UTSW	6	23410877	missense	probably damaging	1.00
R8910:Cadps2	UTSW	6	23344224	missense	probably benign	0.11
R8921:Cadps2	UTSW	6	23302301	missense	probably benign	0.00
R9228:Cadps2	UTSW	6	23688928	missense	probably benign	0.00
R9297:Cadps2	UTSW	6	23496888	missense	probably benign
R9318:Cadps2	UTSW	6	23496888	missense	probably benign
R9348:Cadps2	UTSW	6	23344263	missense	probably benign	0.20
R9447:Cadps2	UTSW	6	23323298	missense	probably damaging	0.96
R9484:Cadps2	UTSW	6	23626647	missense	probably benign	0.02
R9492:Cadps2	UTSW	6	23427239	missense	probably benign
R9630:Cadps2	UTSW	6	23587572	missense	probably benign	0.08
R9729:Cadps2	UTSW	6	23382983	missense	probably benign	0.28
Z1176:Cadps2	UTSW	6	23321801	missense	probably benign	0.24
Z1177:Cadps2	UTSW	6	23385478	missense	possibly damaging	0.88
Z1177:Cadps2	UTSW	6	23626695	missense	probably damaging	1.00
Z1177:Cadps2	UTSW	6	23838818	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGTTACGAGTGATGGACAACAC -3'
(R):5'- GGGTGAACAATTCCAACAGC -3'

Sequencing Primer
(F):5'- GACAACACTGATATTAAGTCAAGTGC -3'
(R):5'- TCCAACAGCTATGAAAATGATTTCC -3'

Posted On

2014-08-01