Mutagenetix > Incidental Mutation

Incidental Mutation 'R5805:Doc2b'

448462

Institutional Source

Beutler Lab

Gene Symbol

Doc2b

Ensembl Gene

ENSMUSG00000020848

Gene Name

double C2, beta

Synonyms

MMRRC Submission

043212-MU

Accession Numbers

Essential gene?

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

Stock #

R5805 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75659792-75686875 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75663364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 363 (S363P)

Ref Sequence

ENSEMBL: ENSMUSP00000021209 (fasta)

Gene Model

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

AlphaFold

P70169

Predicted Effect

probably damaging
Transcript: ENSMUST00000021209
AA Change: S363P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021209
Gene: ENSMUSG00000020848
AA Change: S363P

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	C	T	11: 110,170,216 (GRCm39)	C1293Y	probably benign	Het
Adam8	T	A	7: 139,565,794 (GRCm39)	D611V	probably damaging	Het
Arhgap33	T	C	7: 30,225,839 (GRCm39)	T576A	probably benign	Het
Atf7	A	T	15: 102,466,022 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,489 (GRCm39)	T464S	probably benign	Het
Ccdc40	T	C	11: 119,136,906 (GRCm39)		probably null	Het
Celf2	T	C	2: 6,558,598 (GRCm39)	E430G	probably damaging	Het
Chia1	A	G	3: 106,035,792 (GRCm39)	T211A	probably damaging	Het
Ciz1	T	C	2: 32,257,408 (GRCm39)	F151S	probably damaging	Het
Dnm2	A	G	9: 21,378,965 (GRCm39)	T175A	probably damaging	Het
Garem1	C	T	18: 21,281,492 (GRCm39)	R288H	probably benign	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Helz2	C	A	2: 180,882,301 (GRCm39)	C164F	probably damaging	Het
Itfg1	A	T	8: 86,493,601 (GRCm39)	S293T	probably benign	Het
Kcnn2	T	A	18: 45,816,198 (GRCm39)	D336E	probably damaging	Het
Kifc2	C	T	15: 76,546,353 (GRCm39)	A245V	probably benign	Het
Krt18	T	A	15: 101,939,735 (GRCm39)	I311N	probably benign	Het
Lypla1	T	C	1: 4,900,517 (GRCm39)	M7T	possibly damaging	Het
Mef2a	T	C	7: 66,901,416 (GRCm39)	M285V	possibly damaging	Het
Micu1	A	C	10: 59,663,128 (GRCm39)	K353Q	possibly damaging	Het
Mpv17l	A	G	16: 13,760,013 (GRCm39)		probably benign	Het
Ntrk1	G	A	3: 87,687,479 (GRCm39)	R652W	probably damaging	Het
Or13a28	T	A	7: 140,218,384 (GRCm39)	F257I	probably benign	Het
Or13c7	T	C	4: 43,855,152 (GRCm39)	I281T	probably benign	Het
Or4c107	G	A	2: 88,788,985 (GRCm39)	M58I	possibly damaging	Het
Pcdh15	C	A	10: 74,066,091 (GRCm39)	T252K	probably damaging	Het
Pcsk5	T	C	19: 17,434,193 (GRCm39)	M1392V	probably benign	Het
Phf20	T	A	2: 156,149,214 (GRCm39)	V964E	probably damaging	Het
Pira13	G	A	7: 3,825,622 (GRCm39)	L416F	probably benign	Het
Plcg2	T	C	8: 118,325,234 (GRCm39)		probably null	Het
Rnf10	A	T	5: 115,382,127 (GRCm39)	C693S	probably benign	Het
Rnf19b	A	G	4: 128,952,617 (GRCm39)	Y185C	probably damaging	Het
Ros1	G	T	10: 51,999,385 (GRCm39)	D1167E	probably damaging	Het
Sidt2	G	A	9: 45,853,497 (GRCm39)	S701L	probably damaging	Het
Slc66a2	C	T	18: 80,306,658 (GRCm39)	P76L	probably damaging	Het
Spag1	T	C	15: 36,200,430 (GRCm39)	I345T	probably damaging	Het
Srcap	T	A	7: 127,141,211 (GRCm39)	S1603T	possibly damaging	Het
Stag1	T	A	9: 100,678,831 (GRCm39)	Y251N	probably damaging	Het
Stxbp5	T	C	10: 9,776,330 (GRCm39)	N33S	probably benign	Het
Tnrc6a	T	C	7: 122,769,299 (GRCm39)	L363P	probably damaging	Het
U2surp	C	T	9: 95,361,357 (GRCm39)	R591H	possibly damaging	Het
Usf3	A	G	16: 44,041,109 (GRCm39)	N1863S	possibly damaging	Het
Vmn2r15	T	C	5: 109,434,806 (GRCm39)	I633V	possibly damaging	Het
Zfp979	T	C	4: 147,698,067 (GRCm39)	D214G	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
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'- TGCCCACAGAAACTTGTGGTC -3'
(R):5'- CCCACATTGACCACCTTGAG -3'

Sequencing Primer
(F):5'- CACAGAAACTTGTGGTCCCATGG -3'
(R):5'- CATTGACCACCTTGAGGCTTGAG -3'

Posted On

2016-12-15