Incidental Mutation 'R4932:Doc2a'
ID500840
Institutional Source Beutler Lab
Gene Symbol Doc2a
Ensembl Gene ENSMUSG00000052301
Gene Namedouble C2, alpha
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.205) question?
Stock #R4932 (G1)
Quality Score150
Status Not validated
Chromosome7
Chromosomal Location126847416-126852705 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 126848580 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050833] [ENSMUST00000064110] [ENSMUST00000106342] [ENSMUST00000106343] [ENSMUST00000137873] [ENSMUST00000139174] [ENSMUST00000141805] [ENSMUST00000147257] [ENSMUST00000152051] [ENSMUST00000205938] [ENSMUST00000206349] [ENSMUST00000206968]
Predicted Effect probably benign
Transcript: ENSMUST00000050833
SMART Domains Protein: ENSMUSP00000049851
Gene: ENSMUSG00000030689

DomainStartEndE-ValueType
low complexity region 25 42 N/A INTRINSIC
low complexity region 59 81 N/A INTRINSIC
low complexity region 86 108 N/A INTRINSIC
low complexity region 116 132 N/A INTRINSIC
low complexity region 163 171 N/A INTRINSIC
low complexity region 184 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064110
SMART Domains Protein: ENSMUSP00000070119
Gene: ENSMUSG00000052301

DomainStartEndE-ValueType
Blast:C2 8 37 2e-10 BLAST
low complexity region 40 56 N/A INTRINSIC
low complexity region 57 78 N/A INTRINSIC
C2 110 215 1.68e-22 SMART
low complexity region 223 234 N/A INTRINSIC
C2 272 386 2.44e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106342
SMART Domains Protein: ENSMUSP00000101949
Gene: ENSMUSG00000030689

DomainStartEndE-ValueType
low complexity region 44 66 N/A INTRINSIC
low complexity region 74 90 N/A INTRINSIC
low complexity region 121 129 N/A INTRINSIC
low complexity region 142 157 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106343
SMART Domains Protein: ENSMUSP00000101950
Gene: ENSMUSG00000030689

DomainStartEndE-ValueType
coiled coil region 10 55 N/A INTRINSIC
low complexity region 64 81 N/A INTRINSIC
low complexity region 98 120 N/A INTRINSIC
low complexity region 125 147 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 202 210 N/A INTRINSIC
low complexity region 223 238 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125624
Predicted Effect probably benign
Transcript: ENSMUST00000137873
SMART Domains Protein: ENSMUSP00000119779
Gene: ENSMUSG00000052301

DomainStartEndE-ValueType
Blast:C2 8 37 1e-11 BLAST
low complexity region 40 56 N/A INTRINSIC
low complexity region 57 78 N/A INTRINSIC
C2 110 175 1.44e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139174
SMART Domains Protein: ENSMUSP00000117376
Gene: ENSMUSG00000052301

DomainStartEndE-ValueType
Blast:C2 8 37 2e-12 BLAST
low complexity region 40 56 N/A INTRINSIC
low complexity region 57 78 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141805
SMART Domains Protein: ENSMUSP00000118143
Gene: ENSMUSG00000052301

DomainStartEndE-ValueType
Blast:C2 8 37 5e-12 BLAST
low complexity region 40 56 N/A INTRINSIC
low complexity region 57 78 N/A INTRINSIC
SCOP:d1rsy__ 81 134 1e-10 SMART
PDB:4MJJ|A 86 134 6e-26 PDB
Blast:C2 110 134 5e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000147257
SMART Domains Protein: ENSMUSP00000123143
Gene: ENSMUSG00000052301

DomainStartEndE-ValueType
Blast:C2 8 37 2e-12 BLAST
low complexity region 40 56 N/A INTRINSIC
low complexity region 57 78 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152051
SMART Domains Protein: ENSMUSP00000123483
Gene: ENSMUSG00000052301

DomainStartEndE-ValueType
Blast:C2 8 37 6e-11 BLAST
low complexity region 40 56 N/A INTRINSIC
low complexity region 57 78 N/A INTRINSIC
C2 110 215 1.68e-22 SMART
low complexity region 223 234 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153764
Predicted Effect probably benign
Transcript: ENSMUST00000176771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205493
Predicted Effect probably benign
Transcript: ENSMUST00000205619
Predicted Effect probably benign
Transcript: ENSMUST00000205938
Predicted Effect probably benign
Transcript: ENSMUST00000205958
Predicted Effect probably benign
Transcript: ENSMUST00000206090
Predicted Effect probably benign
Transcript: ENSMUST00000206349
Predicted Effect probably benign
Transcript: ENSMUST00000206968
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous inactivation of this locus affects excitatory synaptic transmission, LTP, and learning/memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik A T 13: 34,932,630 T121S possibly damaging Het
Abcf1 A T 17: 35,959,450 V616E possibly damaging Het
Adam21 A G 12: 81,558,918 V690A probably benign Het
Afg3l1 A T 8: 123,501,380 T635S probably damaging Het
Ahcyl2 T A 6: 29,890,701 M390K probably benign Het
Ank3 T A 10: 69,898,223 probably null Het
Arhgef3 A T 14: 27,384,213 K151N probably damaging Het
Ccr3 T G 9: 124,029,006 F126C probably damaging Het
Ccser1 A G 6: 61,718,191 D170G possibly damaging Het
Celsr2 T A 3: 108,402,758 D1552V probably damaging Het
Cfap69 G A 5: 5,625,820 L265F probably damaging Het
Chrna9 C T 5: 65,969,190 R92* probably null Het
Cog3 A T 14: 75,732,954 V341D probably damaging Het
Csmd1 C A 8: 16,023,765 R2072L probably damaging Het
Dbf4 G T 5: 8,398,039 H390Q probably benign Het
Dcaf4 T A 12: 83,532,304 C166S possibly damaging Het
Dclk3 T A 9: 111,468,042 L218Q possibly damaging Het
Dip2b T A 15: 100,171,722 W643R probably damaging Het
Dip2c A G 13: 9,623,972 K1091E probably damaging Het
Dis3 T A 14: 99,088,904 H415L probably damaging Het
Dnah7a T A 1: 53,503,578 I2478F possibly damaging Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Dph5 A T 3: 115,899,807 M125L probably benign Het
Dst A T 1: 34,228,683 T5247S possibly damaging Het
Eno4 T G 19: 58,964,457 V477G possibly damaging Het
Exosc8 T C 3: 54,729,290 I207V possibly damaging Het
Fam173a T G 17: 25,791,678 probably null Het
Fat4 T A 3: 39,007,203 S4312T probably benign Het
Fgfr2 T C 7: 130,241,277 D126G probably damaging Het
Fgfr4 A G 13: 55,168,170 T799A unknown Het
Gcn1l1 A T 5: 115,592,144 D839V probably benign Het
Gprin3 A G 6: 59,354,173 V383A probably benign Het
Gpt T C 15: 76,698,840 V361A probably benign Het
Hepacam G A 9: 37,381,764 C217Y probably damaging Het
Hsp90aa1 A T 12: 110,693,717 Y382N probably damaging Het
Htr2a T A 14: 74,642,022 N30K probably benign Het
Jhy A T 9: 40,961,003 M70K possibly damaging Het
Lrrc19 T C 4: 94,640,937 Y36C probably damaging Het
Madcam1 C T 10: 79,665,613 Q171* probably null Het
Mcm8 G A 2: 132,838,709 M544I probably benign Het
Mdga1 C T 17: 29,857,606 G64E probably damaging Het
Mettl7a1 T A 15: 100,305,106 F87Y probably benign Het
Mmp3 A G 9: 7,446,994 D58G probably benign Het
Ms4a10 T C 19: 10,964,768 Y123C probably damaging Het
Ms4a4d T A 19: 11,557,932 I198K probably benign Het
Mthfd1l A T 10: 3,980,241 D112V probably benign Het
N4bp2l2 A C 5: 150,643,141 S567R probably benign Het
Ndufaf2 A G 13: 108,158,476 Y32H probably damaging Het
Nup153 T A 13: 46,712,737 K182* probably null Het
Olfr1186 A G 2: 88,525,735 T51A probably benign Het
Olfr481 T A 7: 108,081,574 V260E probably damaging Het
Olfr551 A G 7: 102,588,416 F109S probably damaging Het
Otoa T C 7: 121,155,135 S928P probably damaging Het
Oxct2a T C 4: 123,322,703 D295G probably benign Het
P4ha2 C A 11: 54,125,020 T411K probably benign Het
Plcg2 A T 8: 117,607,083 Q865L probably benign Het
Prepl G T 17: 85,078,504 T244K possibly damaging Het
Ptpro A T 6: 137,411,105 K776* probably null Het
Rc3h2 T C 2: 37,389,832 K462E possibly damaging Het
Scn10a A G 9: 119,687,874 probably null Het
Serpinb1c A G 13: 32,882,164 V266A probably damaging Het
Slc6a20b T A 9: 123,604,796 N326Y probably damaging Het
Spcs2 C T 7: 99,858,831 G16D possibly damaging Het
Spns3 T C 11: 72,499,495 D441G possibly damaging Het
Srsf4 A G 4: 131,891,245 D49G probably damaging Het
Tec A T 5: 72,760,393 C494* probably null Het
Tecpr1 A T 5: 144,204,658 Y798N probably damaging Het
Trim56 C T 5: 137,114,489 E58K probably damaging Het
Ttn A T 2: 76,796,134 D13146E probably damaging Het
Ube2q1 A T 3: 89,779,483 K46* probably null Het
Ucn G T 5: 31,138,498 T8K probably benign Het
Usp25 T C 16: 77,033,982 probably null Het
Usp48 A T 4: 137,615,833 Q430L probably benign Het
Usp48 A T 4: 137,615,834 probably null Het
Vill A T 9: 119,061,511 D164V probably damaging Het
Vmn2r91 T A 17: 18,136,489 M806K possibly damaging Het
Wdfy4 T A 14: 33,029,013 Y2256F probably damaging Het
Wsb1 A G 11: 79,251,000 S64P probably damaging Het
Zc3h11a C A 1: 133,624,612 V586F probably benign Het
Zc3h12d A G 10: 7,853,250 D126G probably damaging Het
Zfp296 G T 7: 19,579,712 C164F possibly damaging Het
Zfp442 T A 2: 150,409,715 H89L possibly damaging Het
Zfp82 T A 7: 30,056,887 probably null Het
Zmynd8 A G 2: 165,834,951 V249A possibly damaging Het
Other mutations in Doc2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Doc2a APN 7 126851001 missense probably damaging 1.00
R0423:Doc2a UTSW 7 126848658 missense probably damaging 1.00
R0538:Doc2a UTSW 7 126848811 missense probably benign 0.15
R1922:Doc2a UTSW 7 126851431 missense probably damaging 1.00
R1992:Doc2a UTSW 7 126851807 critical splice donor site probably null
R2402:Doc2a UTSW 7 126848747 nonsense probably null
R4344:Doc2a UTSW 7 126851149 missense probably damaging 1.00
R4644:Doc2a UTSW 7 126851446 missense probably benign 0.02
R4741:Doc2a UTSW 7 126851445 missense possibly damaging 0.48
R5926:Doc2a UTSW 7 126849525 missense probably damaging 1.00
R6646:Doc2a UTSW 7 126851619 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TAGGACTGATCTGGCAACCC -3'
(R):5'- AGTCGTAGCTGTCTACCTCAG -3'

Sequencing Primer
(F):5'- CACCCAGCCCTTTGTGAAG -3'
(R):5'- AGCTCCATCGTCGGGTGTAG -3'
Posted On2017-12-01