Incidental Mutation 'R5926:Doc2a'
ID 459899
Institutional Source Beutler Lab
Gene Symbol Doc2a
Ensembl Gene ENSMUSG00000052301
Gene Name double C2, alpha
Synonyms
MMRRC Submission 044121-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R5926 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126446588-126451877 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126448697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 134 (V134A)
Ref Sequence ENSEMBL: ENSMUSP00000123483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050833] [ENSMUST00000064110] [ENSMUST00000106342] [ENSMUST00000106343] [ENSMUST00000137873] [ENSMUST00000152051] [ENSMUST00000141805] [ENSMUST00000205938] [ENSMUST00000147257] [ENSMUST00000139174] [ENSMUST00000206349] [ENSMUST00000206968]
AlphaFold Q7TNF0
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 damaging
Transcript: ENSMUST00000064110
AA Change: V134A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070119
Gene: ENSMUSG00000052301
AA Change: V134A

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 damaging
Transcript: ENSMUST00000137873
AA Change: V134A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119779
Gene: ENSMUSG00000052301
AA Change: V134A

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 unknown
Transcript: ENSMUST00000176771
AA Change: V63A
Predicted Effect probably damaging
Transcript: ENSMUST00000152051
AA Change: V134A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123483
Gene: ENSMUSG00000052301
AA Change: V134A

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 silent
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: ENSMUST00000205958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153764
Predicted Effect probably benign
Transcript: ENSMUST00000205619
Predicted Effect probably benign
Transcript: ENSMUST00000206090
Predicted Effect probably benign
Transcript: ENSMUST00000205938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205493
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: 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: ENSMUST00000206349
Predicted Effect probably benign
Transcript: ENSMUST00000206968
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,537,608 (GRCm39) Y701F probably benign Het
Abra T A 15: 41,729,650 (GRCm39) H250L probably damaging Het
Acer2 T C 4: 86,792,805 (GRCm39) V27A probably benign Het
Arhgef15 A G 11: 68,842,781 (GRCm39) L343S possibly damaging Het
Arnt2 G T 7: 83,993,154 (GRCm39) H129N probably damaging Het
Atp9a T A 2: 168,548,191 (GRCm39) Y63F probably damaging Het
Brca2 A G 5: 150,458,087 (GRCm39) T213A probably benign Het
Cdk5r1 T C 11: 80,369,128 (GRCm39) probably null Het
Cyb5r4 C T 9: 86,939,314 (GRCm39) L366F probably benign Het
Cyp20a1 T A 1: 60,402,401 (GRCm39) I162K possibly damaging Het
Dcaf1 T C 9: 106,715,561 (GRCm39) V226A probably benign Het
Ddx41 A T 13: 55,682,112 (GRCm39) M232K probably damaging Het
Dnm1 C T 2: 32,205,816 (GRCm39) V99I probably benign Het
Ghdc C T 11: 100,659,063 (GRCm39) V380M possibly damaging Het
Gldn A G 9: 54,245,722 (GRCm39) I424M possibly damaging Het
Haus6 A T 4: 86,517,553 (GRCm39) H270Q probably benign Het
Hfe A T 13: 23,892,247 (GRCm39) M39K probably damaging Het
Jakmip1 C T 5: 37,242,624 (GRCm39) probably benign Het
Kcnb2 A G 1: 15,383,235 (GRCm39) N187S probably benign Het
Kcnd2 A G 6: 21,217,084 (GRCm39) S263G probably damaging Het
Kcnh1 A G 1: 192,095,385 (GRCm39) N481S probably benign Het
Kcnn2 A G 18: 45,818,351 (GRCm39) I343V probably benign Het
L3hypdh T A 12: 72,123,959 (GRCm39) S300C probably damaging Het
Lrit1 T A 14: 36,776,966 (GRCm39) C29S probably damaging Het
Mark3 T A 12: 111,559,168 (GRCm39) V70E probably damaging Het
Med16 C T 10: 79,738,362 (GRCm39) V319M probably damaging Het
Mindy3 T C 2: 12,352,911 (GRCm39) Y430C probably damaging Het
Mup5 A T 4: 61,751,286 (GRCm39) F121I probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Notch1 A G 2: 26,366,116 (GRCm39) Y813H probably benign Het
Or10a3m T C 7: 108,312,794 (GRCm39) L66S probably damaging Het
Or5p53 T C 7: 107,533,110 (GRCm39) S128P probably damaging Het
Or6b2b A T 1: 92,419,288 (GRCm39) L63Q probably damaging Het
Pi4kb A G 3: 94,906,307 (GRCm39) Y301C probably damaging Het
Ptch1 A G 13: 63,692,869 (GRCm39) S244P probably benign Het
Ptprn G A 1: 75,231,242 (GRCm39) T554I probably damaging Het
Ptprt T C 2: 161,406,606 (GRCm39) I969V probably benign Het
Raf1 T C 6: 115,596,859 (GRCm39) M519V probably benign Het
Ryr1 A G 7: 28,803,785 (GRCm39) V622A probably damaging Het
Spaca4 G T 7: 45,374,719 (GRCm39) H94Q probably benign Het
Spata31 A G 13: 65,068,539 (GRCm39) D229G possibly damaging Het
Tbx6 G A 7: 126,384,025 (GRCm39) A359T possibly damaging Het
Trpm8 T A 1: 88,258,469 (GRCm39) Y251N probably damaging Het
Vps16 T A 2: 130,285,476 (GRCm39) N806K probably damaging Het
Vwf T C 6: 125,581,137 (GRCm39) F592L probably damaging Het
Other mutations in Doc2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Doc2a APN 7 126,450,173 (GRCm39) missense probably damaging 1.00
R0423:Doc2a UTSW 7 126,447,830 (GRCm39) missense probably damaging 1.00
R0538:Doc2a UTSW 7 126,447,983 (GRCm39) missense probably benign 0.15
R1922:Doc2a UTSW 7 126,450,603 (GRCm39) missense probably damaging 1.00
R1992:Doc2a UTSW 7 126,450,979 (GRCm39) critical splice donor site probably null
R2402:Doc2a UTSW 7 126,447,919 (GRCm39) nonsense probably null
R4344:Doc2a UTSW 7 126,450,321 (GRCm39) missense probably damaging 1.00
R4644:Doc2a UTSW 7 126,450,618 (GRCm39) missense probably benign 0.02
R4741:Doc2a UTSW 7 126,450,617 (GRCm39) missense possibly damaging 0.48
R4932:Doc2a UTSW 7 126,447,752 (GRCm39) unclassified probably benign
R6646:Doc2a UTSW 7 126,450,791 (GRCm39) critical splice donor site probably null
R8058:Doc2a UTSW 7 126,450,164 (GRCm39) missense probably benign 0.13
R9269:Doc2a UTSW 7 126,450,159 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TAGAATCCTCAGGGCCAAGG -3'
(R):5'- ACAGGGTTCAGTGTGTTCCTC -3'

Sequencing Primer
(F):5'- CTCAGGGCCAAGGTGTGTATC -3'
(R):5'- TCAGTGTGTTCCTCTGTGTC -3'
Posted On 2017-02-28