Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Doc2b'

401391

Institutional Source

Beutler Lab

Gene Symbol

Doc2b

Ensembl Gene

ENSMUSG00000020848

Gene Name

double C2, beta

Synonyms

MMRRC Submission

042829-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R5260 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75768966-75796049 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75786163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 128 (G128V)

Ref Sequence

ENSEMBL: ENSMUSP00000021209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021209]

AlphaFold

P70169

Predicted Effect

probably damaging
Transcript: ENSMUST00000021209
AA Change: G128V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021209
Gene: ENSMUSG00000020848
AA Change: G128V

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.8738

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	T	1: 93,159,978 (GRCm38)	V51E	probably damaging	Het
Abraxas2	A	T	7: 132,859,274 (GRCm38)	I14F	probably damaging	Het
Acin1	T	C	14: 54,642,822 (GRCm38)		probably benign	Het
Adamts9	C	A	6: 92,807,137 (GRCm38)	V1579L	probably benign	Het
Adra2a	T	A	19: 54,046,608 (GRCm38)	C132S	probably damaging	Het
Aif1	T	A	17: 35,171,941 (GRCm38)		probably null	Het
Atf5	A	T	7: 44,815,086 (GRCm38)	Y27*	probably null	Het
Atm	A	G	9: 53,506,611 (GRCm38)	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,087,351 (GRCm38)		probably benign	Het
Chaf1a	C	T	17: 56,065,000 (GRCm38)	H723Y	probably damaging	Het
Clint1	T	C	11: 45,907,942 (GRCm38)	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,587,866 (GRCm38)	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,501,064 (GRCm38)	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,306,980 (GRCm38)	G512S	probably damaging	Het
Dnah8	T	A	17: 30,700,419 (GRCm38)	V1122D	probably benign	Het
Dysf	T	C	6: 84,150,034 (GRCm38)	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,137,651 (GRCm38)	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,945,123 (GRCm38)	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,893,129 (GRCm38)	H933Q	probably damaging	Het
Erc1	A	T	6: 119,761,159 (GRCm38)	N574K	probably damaging	Het
Eri2	A	T	7: 119,787,846 (GRCm38)		probably benign	Het
Faxc	A	G	4: 21,948,744 (GRCm38)	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,499 (GRCm38)	Y354F	probably damaging	Het
Fras1	T	A	5: 96,735,187 (GRCm38)	I2526N	possibly damaging	Het
Gm1966	A	G	7: 106,599,204 (GRCm38)		noncoding transcript	Het
Gm5424	A	T	10: 62,071,595 (GRCm38)		noncoding transcript	Het
Gm6728	T	C	6: 136,486,703 (GRCm38)		noncoding transcript	Het
Golgb1	A	T	16: 36,913,141 (GRCm38)	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,489,418 (GRCm38)		probably benign	Het
Gusb	A	T	5: 129,999,988 (GRCm38)	Y220*	probably null	Het
Hmcn1	A	G	1: 150,595,861 (GRCm38)	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,323,734 (GRCm38)	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058 (GRCm38)	L802P	probably damaging	Het
Kif5c	A	G	2: 49,735,590 (GRCm38)	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,842,860 (GRCm38)		probably benign	Het
Krt82	C	A	15: 101,548,388 (GRCm38)	G186C	possibly damaging	Het
Lca5	G	A	9: 83,423,223 (GRCm38)	R177C	probably damaging	Het
Mier1	T	C	4: 103,162,710 (GRCm38)	S318P	probably benign	Het
Obscn	A	T	11: 59,003,369 (GRCm38)	I1207N	probably damaging	Het
Olfr1161	A	C	2: 88,025,474 (GRCm38)	I251L	probably benign	Het
Olfr1261	A	G	2: 89,994,182 (GRCm38)	D263G	probably damaging	Het
Olfr1302	A	G	2: 111,781,181 (GRCm38)	Y287C	probably damaging	Het
Olfr607	A	G	7: 103,460,615 (GRCm38)	F198L	probably benign	Het
Oog4	C	T	4: 143,437,854 (GRCm38)	G369D	probably benign	Het
Plec	T	C	15: 76,176,624 (GRCm38)	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,577,165 (GRCm38)	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,160,668 (GRCm38)	S65C	probably damaging	Het
Psma3	T	C	12: 70,984,642 (GRCm38)		probably benign	Het
Ptpn18	T	A	1: 34,463,510 (GRCm38)		probably benign	Het
Ptprv	T	C	1: 135,112,260 (GRCm38)		noncoding transcript	Het
Rac1	C	A	5: 143,508,131 (GRCm38)	V104L	probably benign	Het
Serpinb7	A	T	1: 107,434,749 (GRCm38)	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,620,521 (GRCm38)		probably benign	Het
Srl	G	A	16: 4,482,895 (GRCm38)	R333*	probably null	Het
Srprb	A	T	9: 103,201,920 (GRCm38)	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,470,795 (GRCm38)	S269P	probably damaging	Het
Tdo2	C	T	3: 81,975,323 (GRCm38)		probably null	Het
Teddm1a	T	C	1: 153,891,900 (GRCm38)	Y37H	probably benign	Het
Tenm3	T	C	8: 48,236,855 (GRCm38)	Y1899C	probably damaging	Het
Tep1	T	C	14: 50,838,631 (GRCm38)	T1681A	probably benign	Het
Timm44	G	T	8: 4,275,919 (GRCm38)		probably null	Het
Trp73	A	G	4: 154,062,602 (GRCm38)	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,905,955 (GRCm38)	E611A	probably damaging	Het
Unc80	A	G	1: 66,646,587 (GRCm38)	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,947,079 (GRCm38)	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,071,033 (GRCm38)	E283D	probably benign	Het
Wnt9b	C	A	11: 103,732,049 (GRCm38)	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,806,526 (GRCm38)		probably benign	Het
Zfp352	T	A	4: 90,224,460 (GRCm38)	V279D	probably damaging	Het
Zfp932	C	T	5: 110,009,635 (GRCm38)	Q400*	probably null	Het
Zxdc	T	A	6: 90,382,093 (GRCm38)	L569Q	probably damaging	Het

Other mutations in Doc2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0241:Doc2b	UTSW	11	75,772,561 (GRCm38)	missense	probably damaging	1.00
R0241:Doc2b	UTSW	11	75,772,561 (GRCm38)	missense	probably damaging	1.00
R0567:Doc2b	UTSW	11	75,780,124 (GRCm38)	missense	probably damaging	1.00
R1430:Doc2b	UTSW	11	75,780,155 (GRCm38)	missense	possibly damaging	0.80
R1539:Doc2b	UTSW	11	75,771,957 (GRCm38)	missense	probably damaging	1.00
R5109:Doc2b	UTSW	11	75,777,141 (GRCm38)	missense	probably benign	0.00
R5443:Doc2b	UTSW	11	75,780,095 (GRCm38)	missense	probably damaging	1.00
R5605:Doc2b	UTSW	11	75,771,960 (GRCm38)	missense	probably damaging	0.99
R5789:Doc2b	UTSW	11	75,786,115 (GRCm38)	missense	probably damaging	1.00
R5805:Doc2b	UTSW	11	75,772,538 (GRCm38)	missense	probably damaging	1.00
R6028:Doc2b	UTSW	11	75,772,586 (GRCm38)	missense	probably benign	0.04
R6146:Doc2b	UTSW	11	75,773,595 (GRCm38)	missense	probably damaging	1.00
R6295:Doc2b	UTSW	11	75,795,625 (GRCm38)	missense	probably benign	0.09
R6295:Doc2b	UTSW	11	75,780,267 (GRCm38)	missense	probably damaging	0.99
R6568:Doc2b	UTSW	11	75,776,994 (GRCm38)	splice site	probably null
Z1176:Doc2b	UTSW	11	75,777,072 (GRCm38)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GCACTCTATATAGCAGGGACACC -3'
(R):5'- TGTAGCCAGTGAGACGATCC -3'

Sequencing Primer
(F):5'- CAGGGACACCAGGGAAGTCTG -3'
(R):5'- AAGCTGACTCCTGCAAGTTG -3'

Posted On

2016-07-06