Mutagenetix > Incidental Mutation

Incidental Mutation 'R6295:Doc2b'

508717

Institutional Source

Beutler Lab

Gene Symbol

Doc2b

Ensembl Gene

ENSMUSG00000020848

Gene Name

double C2, beta

Synonyms

MMRRC Submission

044463-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6295 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75659792-75686875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75671093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 209 (R209Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021209 (fasta)

Gene Model

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

AlphaFold

P70169

Predicted Effect

probably damaging
Transcript: ENSMUST00000021209
AA Change: R209Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021209
Gene: ENSMUSG00000020848
AA Change: R209Q

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

0.6467

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	C	12: 118,838,379 (GRCm39)	V1061G	probably damaging	Het
Acap1	A	G	11: 69,781,413 (GRCm39)		probably null	Het
Apbb1	A	G	7: 105,215,902 (GRCm39)	F112L	probably benign	Het
Atg9a	A	G	1: 75,161,702 (GRCm39)	S615P	probably benign	Het
Atp8a2	G	A	14: 60,249,848 (GRCm39)	R548*	probably null	Het
Bbof1	A	T	12: 84,457,942 (GRCm39)	N69I	possibly damaging	Het
Bcl2l14	T	A	6: 134,404,370 (GRCm39)	V186D	probably benign	Het
Bmp1	T	G	14: 70,728,823 (GRCm39)	Y583S	possibly damaging	Het
Boc	A	C	16: 44,312,711 (GRCm39)	S586R	probably benign	Het
Btbd9	A	T	17: 30,518,710 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,317,919 (GRCm39)	M1180V	probably damaging	Het
Ciao1	T	C	2: 127,088,376 (GRCm39)	H149R	probably damaging	Het
Cops5	T	C	1: 10,100,920 (GRCm39)		probably benign	Het
Ep400	A	G	5: 110,901,675 (GRCm39)	F481L	probably benign	Het
Fat4	T	A	3: 39,061,229 (GRCm39)		probably null	Het
Fbxw16	T	A	9: 109,277,837 (GRCm39)		probably benign	Het
Fbxw27	T	C	9: 109,601,154 (GRCm39)	E17G	possibly damaging	Het
Gm29735	G	A	7: 141,710,367 (GRCm39)	P162S	unknown	Het
Gypa	T	G	8: 81,222,969 (GRCm39)	S24R	unknown	Het
Hdhd5	T	C	6: 120,495,485 (GRCm39)	N153D	probably benign	Het
Ibsp	C	A	5: 104,449,987 (GRCm39)		probably null	Het
Klhdc3	C	T	17: 46,988,972 (GRCm39)	V73I	probably benign	Het
Lrrc37a	T	C	11: 103,388,459 (GRCm39)	E2322G	unknown	Het
Lrrtm3	T	C	10: 63,765,913 (GRCm39)	H558R	probably benign	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mphosph9	A	G	5: 124,458,978 (GRCm39)	V64A	possibly damaging	Het
Nthl1	C	T	17: 24,857,475 (GRCm39)	R251C	probably damaging	Het
Numa1	G	A	7: 101,649,974 (GRCm39)	R1235H	probably benign	Het
Opn1sw	T	A	6: 29,379,413 (GRCm39)	Y197F	possibly damaging	Het
Or10a3m	T	C	7: 108,312,845 (GRCm39)	V95A	probably damaging	Het
Pcca	A	T	14: 122,896,187 (GRCm39)	I268F	probably benign	Het
Per2	A	T	1: 91,377,594 (GRCm39)	D76E	unknown	Het
Pfas	T	C	11: 68,888,825 (GRCm39)	N374S	probably benign	Het
Pomk	C	A	8: 26,472,955 (GRCm39)	V333F	probably damaging	Het
Ptgfr	T	C	3: 151,540,926 (GRCm39)	E194G	probably benign	Het
Ptpn14	C	T	1: 189,582,997 (GRCm39)	P615S	probably damaging	Het
Pyroxd1	T	C	6: 142,300,479 (GRCm39)	I203T	probably benign	Het
Rgs22	T	C	15: 36,087,520 (GRCm39)	N466S	probably benign	Het
Rpl3l	G	A	17: 24,952,966 (GRCm39)	V309I	probably benign	Het
Rtkn2	C	T	10: 67,815,529 (GRCm39)		probably benign	Het
Sec16a	C	T	2: 26,318,253 (GRCm39)	A1613T	probably damaging	Het
Sis	T	A	3: 72,874,103 (GRCm39)	T33S	probably damaging	Het
Slc22a4	C	A	11: 53,898,634 (GRCm39)	V153F	possibly damaging	Het
Stxbp1	C	G	2: 32,684,621 (GRCm39)	E603Q	probably damaging	Het
Tiam2	A	G	17: 3,559,831 (GRCm39)	S1291G	probably damaging	Het
Tmem94	T	A	11: 115,687,572 (GRCm39)	L1144M	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Vmn1r201	T	C	13: 22,659,533 (GRCm39)	V249A	probably benign	Het
Wdr7	T	A	18: 63,888,182 (GRCm39)	C552S	probably damaging	Het

Other mutations in Doc2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0567:Doc2b	UTSW	11	75,670,950 (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
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'- CTCCAGGCAGATGCTGAATG -3'
(R):5'- ACCTCTGTGAATGGAAGGACC -3'

Sequencing Primer
(F):5'- CCAGGCAGATGCTGAATGTCTTG -3'
(R):5'- CAGGCCTGCCACCTTTGAG -3'

Posted On

2018-04-02