Incidental Mutation 'R6295:Doc2b'
ID527943
Institutional Source Beutler Lab
Gene Symbol Doc2b
Ensembl Gene ENSMUSG00000020848
Gene Namedouble C2, beta
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #R6295 (G1)
Quality Score74.0075
Status Validated
Chromosome11
Chromosomal Location75768966-75796049 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75795625 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 90 (Y90C)
Ref Sequence ENSEMBL: ENSMUSP00000021209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021209]
Predicted Effect probably benign
Transcript: ENSMUST00000021209
AA Change: Y90C

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021209
Gene: ENSMUSG00000020848
AA Change: Y90C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139361
Meta Mutation Damage Score 0.0965 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A C 12: 118,874,644 V1061G probably damaging Het
Acap1 A G 11: 69,890,587 probably null Het
Apbb1 A G 7: 105,566,695 F112L probably benign Het
Atg9a A G 1: 75,185,058 S615P probably benign Het
Atp8a2 G A 14: 60,012,399 R548* probably null Het
Bbof1 A T 12: 84,411,168 N69I possibly damaging Het
Bcl2l14 T A 6: 134,427,407 V186D probably benign Het
Bmp1 T G 14: 70,491,383 Y583S possibly damaging Het
Boc A C 16: 44,492,348 S586R probably benign Het
Btbd9 A T 17: 30,299,736 probably null Het
Cacna1e T C 1: 154,442,173 M1180V probably damaging Het
Ciao1 T C 2: 127,246,456 H149R probably damaging Het
Cops5 T C 1: 10,030,695 probably benign Het
Ep400 A G 5: 110,753,809 F481L probably benign Het
Fat4 T A 3: 39,007,080 probably null Het
Fbxw16 T A 9: 109,448,769 probably benign Het
Fbxw27 T C 9: 109,772,086 E17G possibly damaging Het
Gm29735 G A 7: 142,156,630 P162S unknown Het
Gypa T G 8: 80,496,340 S24R unknown Het
Hdhd5 T C 6: 120,518,524 N153D probably benign Het
Ibsp C A 5: 104,302,121 probably null Het
Klhdc3 C T 17: 46,678,046 V73I probably benign Het
Lrrc37a T C 11: 103,497,633 E2322G unknown Het
Lrrtm3 T C 10: 63,930,134 H558R probably benign Het
Mbtd1 C T 11: 93,932,232 H493Y possibly damaging Het
Mphosph9 A G 5: 124,320,915 V64A possibly damaging Het
Nthl1 C T 17: 24,638,501 R251C probably damaging Het
Numa1 G A 7: 102,000,767 R1235H probably benign Het
Olfr512 T C 7: 108,713,638 V95A probably damaging Het
Opn1sw T A 6: 29,379,414 Y197F possibly damaging Het
Pcca A T 14: 122,658,775 I268F probably benign Het
Per2 A T 1: 91,449,872 D76E unknown Het
Pfas T C 11: 68,997,999 N374S probably benign Het
Pomk C A 8: 25,982,927 V333F probably damaging Het
Ptgfr T C 3: 151,835,289 E194G probably benign Het
Ptpn14 C T 1: 189,850,800 P615S probably damaging Het
Pyroxd1 T C 6: 142,354,753 I203T probably benign Het
Rgs22 T C 15: 36,087,374 N466S probably benign Het
Rpl3l G A 17: 24,733,992 V309I probably benign Het
Rtkn2 C T 10: 67,979,699 probably benign Het
Sec16a C T 2: 26,428,241 A1613T probably damaging Het
Sis T A 3: 72,966,770 T33S probably damaging Het
Slc22a4 C A 11: 54,007,808 V153F possibly damaging Het
Stxbp1 C G 2: 32,794,609 E603Q probably damaging Het
Tiam2 A G 17: 3,509,556 S1291G probably damaging Het
Tmem94 T A 11: 115,796,746 L1144M probably damaging Het
Ttn G A 2: 76,749,329 T23740M probably damaging Het
Vmn1r201 T C 13: 22,475,363 V249A probably benign Het
Wdr7 T A 18: 63,755,111 C552S probably damaging Het
Other mutations in Doc2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0241:Doc2b UTSW 11 75772561 missense probably damaging 1.00
R0241:Doc2b UTSW 11 75772561 missense probably damaging 1.00
R0567:Doc2b UTSW 11 75780124 missense probably damaging 1.00
R1430:Doc2b UTSW 11 75780155 missense possibly damaging 0.80
R1539:Doc2b UTSW 11 75771957 missense probably damaging 1.00
R5109:Doc2b UTSW 11 75777141 missense probably benign 0.00
R5260:Doc2b UTSW 11 75786163 missense probably damaging 1.00
R5443:Doc2b UTSW 11 75780095 missense probably damaging 1.00
R5605:Doc2b UTSW 11 75771960 missense probably damaging 0.99
R5789:Doc2b UTSW 11 75786115 missense probably damaging 1.00
R5805:Doc2b UTSW 11 75772538 missense probably damaging 1.00
R6028:Doc2b UTSW 11 75772586 missense probably benign 0.04
R6146:Doc2b UTSW 11 75773595 missense probably damaging 1.00
R6295:Doc2b UTSW 11 75780267 missense probably damaging 0.99
R6568:Doc2b UTSW 11 75776994 splice site probably null
Z1176:Doc2b UTSW 11 75777072 missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- TTTTCCAAAGGACAAGCGGCC -3'
(R):5'- GGCCTATCAAGCAGATCTCC -3'

Sequencing Primer
(F):5'- AGCAACTGGTGTCTCTCCG -3'
(R):5'- ATCAAGCAGATCTCCGATTATTTTCC -3'
Posted On2018-07-23