Incidental Mutation 'R0567:Doc2b'
ID 46226
Institutional Source Beutler Lab
Gene Symbol Doc2b
Ensembl Gene ENSMUSG00000020848
Gene Name double C2, beta
Synonyms
MMRRC Submission 038758-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0567 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75659792-75686875 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75670950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 227 (F227S)
Ref Sequence ENSEMBL: ENSMUSP00000021209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021209]
AlphaFold P70169
Predicted Effect probably damaging
Transcript: ENSMUST00000021209
AA Change: F227S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021209
Gene: ENSMUSG00000020848
AA Change: F227S

DomainStartEndE-ValueType
Blast:C2 9 38 8e-8 BLAST
low complexity region 41 77 N/A INTRINSIC
low complexity region 91 110 N/A INTRINSIC
C2 142 247 4.69e-21 SMART
C2 282 396 4.69e-21 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a calcium sensor involved in glucose-stimulated insulin secretion, spontaneous neurotransmitter release, and enhanced SNARE-dependent vesicle fusion. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduced frequency of spontaneous neurotransmitter release events with cerebellar Purkinje cells showing continuous spiking without interruption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A G 4: 86,146,253 (GRCm39) E303G probably damaging Het
Akr1b1 A T 6: 34,281,280 (GRCm39) probably null Het
Alox8 A T 11: 69,082,348 (GRCm39) probably null Het
Apcdd1 G A 18: 63,067,107 (GRCm39) E74K possibly damaging Het
Atr T C 9: 95,747,882 (GRCm39) V388A probably benign Het
AW554918 G A 18: 25,533,092 (GRCm39) E452K possibly damaging Het
C1galt1 A G 6: 7,866,874 (GRCm39) D240G probably damaging Het
Ceacam10 T A 7: 24,477,834 (GRCm39) D116E probably damaging Het
Col15a1 G T 4: 47,293,231 (GRCm39) V912L possibly damaging Het
Cyp3a11 G A 5: 145,805,959 (GRCm39) T136I probably damaging Het
Denr C T 5: 124,046,221 (GRCm39) T17M probably benign Het
Dsp A T 13: 38,376,414 (GRCm39) T1400S probably benign Het
Egfr A T 11: 16,822,873 (GRCm39) D412V probably benign Het
Fryl C T 5: 73,222,734 (GRCm39) G1949D possibly damaging Het
Gstp3 A T 19: 4,107,636 (GRCm39) L176Q possibly damaging Het
H2ac12 T C 13: 22,219,734 (GRCm39) probably benign Het
Heatr5a T A 12: 51,956,872 (GRCm39) N1075I probably damaging Het
Ighv1-69 C T 12: 115,587,169 (GRCm39) probably benign Het
Lama3 A G 18: 12,682,309 (GRCm39) I1092V probably benign Het
Lipg A T 18: 75,090,440 (GRCm39) H36Q probably benign Het
Myh7b T C 2: 155,468,318 (GRCm39) W836R probably damaging Het
Oit3 A T 10: 59,271,800 (GRCm39) C186S probably damaging Het
Or4m1 A T 14: 50,558,115 (GRCm39) M59K probably damaging Het
P2ry2 T C 7: 100,647,748 (GRCm39) T186A probably damaging Het
Pyroxd2 T C 19: 42,724,364 (GRCm39) T300A probably benign Het
Rab26 C A 17: 24,748,556 (GRCm39) V283F probably damaging Het
Rad50 C T 11: 53,545,783 (GRCm39) R1180Q probably damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Shroom3 A G 5: 93,112,312 (GRCm39) D1891G possibly damaging Het
Syne2 G A 12: 75,937,004 (GRCm39) E201K probably damaging Het
Taf6 A T 5: 138,181,988 (GRCm39) probably null Het
Tbc1d32 A T 10: 56,050,059 (GRCm39) M493K possibly damaging Het
Uaca A G 9: 60,778,663 (GRCm39) T1017A probably benign Het
Usp17le C T 7: 104,418,105 (GRCm39) V346I possibly damaging Het
Vmn1r71 T C 7: 10,482,556 (GRCm39) D44G probably damaging Het
Vmn2r80 A G 10: 79,030,665 (GRCm39) I830M possibly damaging Het
Yju2b A G 8: 84,987,294 (GRCm39) L93P probably damaging Het
Zfp994 T C 17: 22,419,449 (GRCm39) Y500C possibly damaging Het
Zscan20 A G 4: 128,483,243 (GRCm39) probably null Het
Other mutations in Doc2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0241:Doc2b UTSW 11 75,663,387 (GRCm39) missense probably damaging 1.00
R0241:Doc2b UTSW 11 75,663,387 (GRCm39) missense probably damaging 1.00
R1430:Doc2b UTSW 11 75,670,981 (GRCm39) missense possibly damaging 0.80
R1539:Doc2b UTSW 11 75,662,783 (GRCm39) missense probably damaging 1.00
R5109:Doc2b UTSW 11 75,667,967 (GRCm39) missense probably benign 0.00
R5260:Doc2b UTSW 11 75,676,989 (GRCm39) missense probably damaging 1.00
R5443:Doc2b UTSW 11 75,670,921 (GRCm39) missense probably damaging 1.00
R5605:Doc2b UTSW 11 75,662,786 (GRCm39) missense probably damaging 0.99
R5789:Doc2b UTSW 11 75,676,941 (GRCm39) missense probably damaging 1.00
R5805:Doc2b UTSW 11 75,663,364 (GRCm39) missense probably damaging 1.00
R6028:Doc2b UTSW 11 75,663,412 (GRCm39) missense probably benign 0.04
R6146:Doc2b UTSW 11 75,664,421 (GRCm39) missense probably damaging 1.00
R6295:Doc2b UTSW 11 75,686,451 (GRCm39) missense probably benign 0.09
R6295:Doc2b UTSW 11 75,671,093 (GRCm39) missense probably damaging 0.99
R6568:Doc2b UTSW 11 75,667,820 (GRCm39) splice site probably null
Z1176:Doc2b UTSW 11 75,667,898 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TCCCTGCAACTGTGCCTGAAAC -3'
(R):5'- GTCCAAATAGAGGCTGCACACTTCC -3'

Sequencing Primer
(F):5'- TAGCTGCTCAGTAAACTCCTGC -3'
(R):5'- TTGAGGCCACACTCATTCAGG -3'
Posted On 2013-06-11