Incidental Mutation 'R6463:Cadps2'
ID 517681
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 045324-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6463 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 23262773-23839421 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 23323334 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 1016 (L1016*)
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 null
Transcript: ENSMUST00000018122
AA Change: L1045*
SMART Domains Protein: ENSMUSP00000018122
Gene: ENSMUSG00000017978
AA Change: L1045*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000069074
AA Change: L1038*
SMART Domains Protein: ENSMUSP00000064876
Gene: ENSMUSG00000017978
AA Change: L1038*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000115358
AA Change: L1005*
SMART Domains Protein: ENSMUSP00000111015
Gene: ENSMUSG00000017978
AA Change: L1005*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000115361
AA Change: L995*
SMART Domains Protein: ENSMUSP00000111018
Gene: ENSMUSG00000017978
AA Change: L995*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000125350
AA Change: L640*
SMART Domains Protein: ENSMUSP00000115866
Gene: ENSMUSG00000017978
AA Change: L640*

DomainStartEndE-ValueType
C2 14 112 1.51e-1 SMART
PH 137 241 2.94e-11 SMART
DUF1041 446 537 1.9e-49 SMART
Predicted Effect probably null
Transcript: ENSMUST00000142913
AA Change: L1016*
SMART Domains Protein: ENSMUSP00000138167
Gene: ENSMUSG00000017978
AA Change: L1016*

DomainStartEndE-ValueType
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: ENSMUST00000156986
Predicted Effect probably null
Transcript: ENSMUST00000163871
AA Change: L1045*
SMART Domains Protein: ENSMUSP00000128905
Gene: ENSMUSG00000017978
AA Change: L1045*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000166458
AA Change: L1016*
SMART Domains Protein: ENSMUSP00000125972
Gene: ENSMUSG00000017978
AA Change: L1016*

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9752 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.4%
Validation Efficiency 100% (51/51)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,450,938 (GRCm38) H48L probably damaging Het
Aifm3 A G 16: 17,500,789 (GRCm38) I185V probably benign Het
Asb7 A T 7: 66,660,236 (GRCm38) D77E probably damaging Het
Cacna1i T C 15: 80,355,758 (GRCm38) I336T probably damaging Het
Cep63 C A 9: 102,596,155 (GRCm38) M504I probably benign Het
Chpf2 G T 5: 24,589,526 (GRCm38) L231F probably damaging Het
Cnot10 T C 9: 114,625,902 (GRCm38) Y221C probably damaging Het
Col3a1 G A 1: 45,342,205 (GRCm38) probably benign Het
Csl T C 10: 99,759,098 (GRCm38) D35G probably damaging Het
Csmd3 T C 15: 47,676,479 (GRCm38) Y2286C probably damaging Het
Dbt A G 3: 116,539,760 (GRCm38) E293G possibly damaging Het
Ddx31 T A 2: 28,847,513 (GRCm38) probably null Het
Dnm1 T C 2: 32,309,591 (GRCm38) probably benign Het
Elfn1 A G 5: 139,972,285 (GRCm38) Y348C probably damaging Het
Enpp5 G A 17: 44,085,264 (GRCm38) G356S probably damaging Het
Epha5 T A 5: 84,106,710 (GRCm38) I657F probably damaging Het
Fbp1 A G 13: 62,865,010 (GRCm38) F123S possibly damaging Het
Hkdc1 T C 10: 62,393,702 (GRCm38) N732S probably damaging Het
Itfg1 A G 8: 85,736,151 (GRCm38) S448P probably benign Het
Itprid1 A G 6: 55,968,678 (GRCm38) R795G probably benign Het
Izumo2 A G 7: 44,709,074 (GRCm38) K84R probably benign Het
Kbtbd3 A G 9: 4,316,921 (GRCm38) Y24C probably benign Het
Kif1b T C 4: 149,192,596 (GRCm38) M1337V probably benign Het
Mdn1 T C 4: 32,773,308 (GRCm38) L5489P probably damaging Het
Mettl2 G A 11: 105,132,581 (GRCm38) probably null Het
Mtr T C 13: 12,216,866 (GRCm38) T651A probably benign Het
Naglu A G 11: 101,077,351 (GRCm38) probably null Het
Nkx6-1 G T 5: 101,659,476 (GRCm38) H347N probably damaging Het
Ntpcr A G 8: 125,736,104 (GRCm38) E20G probably benign Het
Oas2 T C 5: 120,734,981 (GRCm38) R670G probably null Het
Or10h1 G A 17: 33,199,638 (GRCm38) V197I probably benign Het
Or2ag16 C G 7: 106,752,801 (GRCm38) E196Q probably benign Het
Or4p8 T C 2: 88,897,118 (GRCm38) I160V probably benign Het
Phldb2 A C 16: 45,774,993 (GRCm38) V902G probably benign Het
Rdh7 T C 10: 127,885,781 (GRCm38) R209G probably benign Het
Slc13a3 A C 2: 165,445,653 (GRCm38) L127R probably damaging Het
Slc6a20b T A 9: 123,604,949 (GRCm38) I275F possibly damaging Het
St3gal1 A G 15: 67,111,346 (GRCm38) V187A possibly damaging Het
Tmx4 T C 2: 134,620,639 (GRCm38) Y124C probably damaging Het
Trh A T 6: 92,242,843 (GRCm38) M164K possibly damaging Het
Trhr A G 15: 44,197,585 (GRCm38) N167S probably benign Het
Ttll7 G A 3: 146,931,582 (GRCm38) R490Q possibly damaging Het
Uck1 T C 2: 32,258,655 (GRCm38) N100S probably benign Het
Ucp3 A T 7: 100,480,269 (GRCm38) T104S probably benign Het
Vmn2r28 T A 7: 5,486,436 (GRCm38) H468L probably benign Het
Xaf1 G A 11: 72,308,638 (GRCm38) R67H probably benign Het
Ypel4 T C 2: 84,736,743 (GRCm38) probably benign Het
Zfp687 A G 3: 95,010,784 (GRCm38) I559T probably damaging Het
Other mutations in Cadps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Cadps2 APN 6 23,496,874 (GRCm38) missense possibly damaging 0.84
IGL01105:Cadps2 APN 6 23,321,700 (GRCm38) splice site probably benign
IGL01317:Cadps2 APN 6 23,314,173 (GRCm38) missense possibly damaging 0.76
IGL01409:Cadps2 APN 6 23,587,441 (GRCm38) missense probably damaging 1.00
IGL01477:Cadps2 APN 6 23,263,673 (GRCm38) missense probably damaging 1.00
IGL01620:Cadps2 APN 6 23,587,462 (GRCm38) missense probably benign 0.19
IGL01674:Cadps2 APN 6 23,355,852 (GRCm38) missense probably damaging 1.00
IGL01675:Cadps2 APN 6 23,382,905 (GRCm38) missense probably damaging 1.00
IGL01895:Cadps2 APN 6 23,427,275 (GRCm38) missense probably damaging 0.98
IGL02095:Cadps2 APN 6 23,427,310 (GRCm38) missense probably benign 0.01
IGL02200:Cadps2 APN 6 23,385,528 (GRCm38) missense probably damaging 1.00
IGL02380:Cadps2 APN 6 23,287,732 (GRCm38) missense probably benign 0.11
IGL02680:Cadps2 APN 6 23,838,896 (GRCm38) missense probably damaging 0.99
IGL02814:Cadps2 APN 6 23,321,707 (GRCm38) missense probably damaging 1.00
IGL02940:Cadps2 APN 6 23,496,809 (GRCm38) missense probably benign 0.08
IGL03061:Cadps2 APN 6 23,287,660 (GRCm38) splice site probably null
IGL03233:Cadps2 APN 6 23,263,601 (GRCm38) missense probably benign 0.10
R0193:Cadps2 UTSW 6 23,599,440 (GRCm38) missense probably benign 0.00
R0389:Cadps2 UTSW 6 23,321,782 (GRCm38) missense possibly damaging 0.88
R0571:Cadps2 UTSW 6 23,583,412 (GRCm38) missense probably damaging 1.00
R0595:Cadps2 UTSW 6 23,321,704 (GRCm38) critical splice donor site probably null
R0620:Cadps2 UTSW 6 23,583,396 (GRCm38) missense probably damaging 1.00
R0723:Cadps2 UTSW 6 23,287,698 (GRCm38) missense probably damaging 0.99
R0831:Cadps2 UTSW 6 23,321,740 (GRCm38) missense possibly damaging 0.88
R0836:Cadps2 UTSW 6 23,328,776 (GRCm38) splice site probably benign
R0942:Cadps2 UTSW 6 23,263,562 (GRCm38) missense probably damaging 1.00
R1099:Cadps2 UTSW 6 23,599,479 (GRCm38) missense probably damaging 1.00
R1120:Cadps2 UTSW 6 23,838,794 (GRCm38) missense probably damaging 1.00
R1216:Cadps2 UTSW 6 23,583,473 (GRCm38) splice site probably benign
R1575:Cadps2 UTSW 6 23,429,218 (GRCm38) missense probably damaging 1.00
R1780:Cadps2 UTSW 6 23,320,932 (GRCm38) critical splice donor site probably null
R1924:Cadps2 UTSW 6 23,688,858 (GRCm38) missense probably damaging 0.99
R1944:Cadps2 UTSW 6 23,599,480 (GRCm38) missense probably damaging 0.99
R1956:Cadps2 UTSW 6 23,287,686 (GRCm38) missense probably damaging 1.00
R1986:Cadps2 UTSW 6 23,323,380 (GRCm38) missense probably damaging 1.00
R2045:Cadps2 UTSW 6 23,839,122 (GRCm38) missense possibly damaging 0.73
R2146:Cadps2 UTSW 6 23,838,999 (GRCm38) intron probably benign
R2147:Cadps2 UTSW 6 23,838,999 (GRCm38) intron probably benign
R2148:Cadps2 UTSW 6 23,838,999 (GRCm38) intron probably benign
R2150:Cadps2 UTSW 6 23,838,999 (GRCm38) intron probably benign
R2219:Cadps2 UTSW 6 23,410,832 (GRCm38) missense probably damaging 1.00
R2264:Cadps2 UTSW 6 23,323,340 (GRCm38) missense probably benign 0.15
R2338:Cadps2 UTSW 6 23,838,978 (GRCm38) splice site probably benign
R3861:Cadps2 UTSW 6 23,355,861 (GRCm38) missense probably damaging 1.00
R3898:Cadps2 UTSW 6 23,528,126 (GRCm38) missense probably damaging 1.00
R3982:Cadps2 UTSW 6 23,263,531 (GRCm38) utr 3 prime probably benign
R4213:Cadps2 UTSW 6 23,599,463 (GRCm38) missense probably damaging 1.00
R4384:Cadps2 UTSW 6 23,412,988 (GRCm38) missense probably benign 0.18
R4432:Cadps2 UTSW 6 23,626,738 (GRCm38) missense probably damaging 0.99
R4609:Cadps2 UTSW 6 23,587,579 (GRCm38) missense probably damaging 1.00
R4806:Cadps2 UTSW 6 23,688,860 (GRCm38) missense probably damaging 0.96
R4977:Cadps2 UTSW 6 23,599,479 (GRCm38) missense probably damaging 1.00
R5174:Cadps2 UTSW 6 23,287,743 (GRCm38) missense probably damaging 1.00
R5267:Cadps2 UTSW 6 23,626,668 (GRCm38) missense possibly damaging 0.79
R5389:Cadps2 UTSW 6 23,329,104 (GRCm38) missense probably damaging 1.00
R5737:Cadps2 UTSW 6 23,328,805 (GRCm38) missense probably benign 0.28
R6074:Cadps2 UTSW 6 23,626,671 (GRCm38) missense probably damaging 1.00
R6254:Cadps2 UTSW 6 23,329,163 (GRCm38) critical splice acceptor site probably null
R6323:Cadps2 UTSW 6 23,263,578 (GRCm38) missense probably benign 0.04
R6907:Cadps2 UTSW 6 23,599,506 (GRCm38) missense probably damaging 1.00
R6940:Cadps2 UTSW 6 23,302,492 (GRCm38) missense probably damaging 1.00
R6964:Cadps2 UTSW 6 23,583,459 (GRCm38) missense probably damaging 1.00
R7079:Cadps2 UTSW 6 23,323,409 (GRCm38) missense probably damaging 1.00
R7139:Cadps2 UTSW 6 23,410,889 (GRCm38) missense probably damaging 1.00
R7156:Cadps2 UTSW 6 23,688,956 (GRCm38) missense probably benign 0.02
R7184:Cadps2 UTSW 6 23,583,429 (GRCm38) missense probably benign 0.18
R7325:Cadps2 UTSW 6 23,409,935 (GRCm38) missense unknown
R7526:Cadps2 UTSW 6 23,496,851 (GRCm38) missense probably damaging 1.00
R7546:Cadps2 UTSW 6 23,626,608 (GRCm38) missense probably benign 0.15
R7772:Cadps2 UTSW 6 23,390,446 (GRCm38) missense probably benign 0.00
R7870:Cadps2 UTSW 6 23,263,642 (GRCm38) missense probably benign 0.14
R8040:Cadps2 UTSW 6 23,412,943 (GRCm38) splice site probably benign
R8048:Cadps2 UTSW 6 23,838,863 (GRCm38) missense probably benign 0.14
R8082:Cadps2 UTSW 6 23,323,314 (GRCm38) missense probably damaging 1.00
R8100:Cadps2 UTSW 6 23,838,809 (GRCm38) missense probably damaging 1.00
R8115:Cadps2 UTSW 6 23,328,898 (GRCm38) missense probably benign 0.00
R8497:Cadps2 UTSW 6 23,355,919 (GRCm38) missense probably benign 0.27
R8768:Cadps2 UTSW 6 23,382,939 (GRCm38) missense probably damaging 1.00
R8783:Cadps2 UTSW 6 23,302,304 (GRCm38) missense possibly damaging 0.57
R8804:Cadps2 UTSW 6 23,496,806 (GRCm38) missense probably damaging 1.00
R8832:Cadps2 UTSW 6 23,587,537 (GRCm38) missense possibly damaging 0.52
R8848:Cadps2 UTSW 6 23,344,257 (GRCm38) missense probably damaging 1.00
R8854:Cadps2 UTSW 6 23,385,508 (GRCm38) missense probably damaging 1.00
R8896:Cadps2 UTSW 6 23,410,877 (GRCm38) missense probably damaging 1.00
R8910:Cadps2 UTSW 6 23,344,224 (GRCm38) missense probably benign 0.11
R8921:Cadps2 UTSW 6 23,302,301 (GRCm38) missense probably benign 0.00
R9228:Cadps2 UTSW 6 23,688,928 (GRCm38) missense probably benign 0.00
R9297:Cadps2 UTSW 6 23,496,888 (GRCm38) missense probably benign
R9318:Cadps2 UTSW 6 23,496,888 (GRCm38) missense probably benign
R9348:Cadps2 UTSW 6 23,344,263 (GRCm38) missense probably benign 0.20
R9447:Cadps2 UTSW 6 23,323,298 (GRCm38) missense probably damaging 0.96
R9484:Cadps2 UTSW 6 23,626,647 (GRCm38) missense probably benign 0.02
R9492:Cadps2 UTSW 6 23,427,239 (GRCm38) missense probably benign
R9630:Cadps2 UTSW 6 23,587,572 (GRCm38) missense probably benign 0.08
R9729:Cadps2 UTSW 6 23,382,983 (GRCm38) missense probably benign 0.28
Z1176:Cadps2 UTSW 6 23,321,801 (GRCm38) missense probably benign 0.24
Z1177:Cadps2 UTSW 6 23,838,818 (GRCm38) missense probably damaging 1.00
Z1177:Cadps2 UTSW 6 23,626,695 (GRCm38) missense probably damaging 1.00
Z1177:Cadps2 UTSW 6 23,385,478 (GRCm38) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- CAATTCCATGGTTCCCCAGG -3'
(R):5'- CATTATCACAGAAGGAAAACCAGTG -3'

Sequencing Primer
(F):5'- ATTCCATGGTTCCCCAGGATTAAGG -3'
(R):5'- GGATGGATGTGTGTGGCCC -3'
Posted On 2018-05-21