Mutagenetix > Incidental Mutation

Incidental Mutation 'R2377:Dock3'

248318

Institutional Source

Beutler Lab

Gene Symbol

Dock3

Ensembl Gene

ENSMUSG00000039716

Gene Name

dedicator of cyto-kinesis 3

Synonyms

Moca, PBP

MMRRC Submission

040354-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.549) question?

Stock #

R2377 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106770024-107109108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106773090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 388 (P388S)

Ref Sequence

ENSEMBL: ENSMUSP00000127059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044532] [ENSMUST00000069036] [ENSMUST00000159283] [ENSMUST00000171095] [ENSMUST00000166152]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044532
AA Change: P1866S

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716
AA Change: P1866S

Domain	Start	End	E-Value	Type
SH3	9	66	3.85e-9	SMART
Pfam:DOCK_N	69	412	1.4e-120	PFAM
Pfam:DOCK-C2	417	608	7.7e-56	PFAM
low complexity region	854	867	N/A	INTRINSIC
low complexity region	892	916	N/A	INTRINSIC
Pfam:DHR-2	1121	1628	9e-133	PFAM
low complexity region	1679	1690	N/A	INTRINSIC
low complexity region	1693	1704	N/A	INTRINSIC
low complexity region	1730	1754	N/A	INTRINSIC
low complexity region	1880	1902	N/A	INTRINSIC
low complexity region	1963	1977	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069036

SMART Domains

Protein: ENSMUSP00000066534
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	13	165	3.2e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159283

SMART Domains

Protein: ENSMUSP00000124562
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Armet	26	171	9.1e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159620

SMART Domains

Protein: ENSMUSP00000123907
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	18	120	1.7e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160503

SMART Domains

Protein: ENSMUSP00000124453
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	17	118	1.6e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160978

SMART Domains

Protein: ENSMUSP00000124791
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Armet	26	124	1.6e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161822

Predicted Effect

probably damaging
Transcript: ENSMUST00000171095
AA Change: P388S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127059
Gene: ENSMUSG00000039716
AA Change: P388S

Domain	Start	End	E-Value	Type
Pfam:Ded_cyto	1	172	8.9e-52	PFAM
low complexity region	223	234	N/A	INTRINSIC
low complexity region	237	248	N/A	INTRINSIC
low complexity region	260	275	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	485	499	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162801

Predicted Effect

probably benign
Transcript: ENSMUST00000166152

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal behaviors and muscular weakness associated with axonal dystrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,285,787 (GRCm39)	D1304G	probably damaging	Het
Adamts10	C	A	17: 33,747,866 (GRCm39)	H101N	probably damaging	Het
Apaf1	T	A	10: 90,915,755 (GRCm39)	K44N	possibly damaging	Het
Aqr	A	T	2: 113,971,421 (GRCm39)	N471K	possibly damaging	Het
Blvrb	T	A	7: 27,159,024 (GRCm39)	I94N	probably damaging	Het
Ccdc38	C	T	10: 93,409,897 (GRCm39)	P239S	probably damaging	Het
Chst4	T	A	8: 110,756,804 (GRCm39)	Y270F	possibly damaging	Het
Col5a1	T	C	2: 27,818,189 (GRCm39)	F138S	unknown	Het
Dhx32	G	T	7: 133,326,207 (GRCm39)	H407N	probably damaging	Het
Fbxo10	A	C	4: 45,044,719 (GRCm39)	Y639D	probably benign	Het
Fsip2	A	G	2: 82,806,593 (GRCm39)	T971A	probably benign	Het
Gli2	C	T	1: 118,764,855 (GRCm39)	A1099T	possibly damaging	Het
Hr	C	T	14: 70,795,318 (GRCm39)	L317F	probably damaging	Het
Ice1	G	A	13: 70,750,899 (GRCm39)	A1729V	probably damaging	Het
Mcc	C	G	18: 44,652,616 (GRCm39)	K269N	probably damaging	Het
Miga2	T	A	2: 30,274,002 (GRCm39)	C83*	probably null	Het
Msl1	A	G	11: 98,694,789 (GRCm39)	R273G	probably damaging	Het
Msl3l2	T	C	10: 55,991,659 (GRCm39)	I128T	probably damaging	Het
Ntrk1	T	A	3: 87,698,714 (GRCm39)	D109V	possibly damaging	Het
Or14j5	A	G	17: 38,161,498 (GRCm39)	N5S	probably damaging	Het
Or4b13	A	G	2: 90,083,255 (GRCm39)	F26L	probably damaging	Het
Or4f14b	A	T	2: 111,774,988 (GRCm39)	L271Q	probably damaging	Het
Or5b97	T	A	19: 12,878,217 (GRCm39)	Y309F	possibly damaging	Het
Pcmtd2	A	G	2: 181,497,072 (GRCm39)		probably benign	Het
Polr1a	T	C	6: 71,949,810 (GRCm39)		probably null	Het
Ptk2b	T	A	14: 66,409,997 (GRCm39)	I452F	possibly damaging	Het
Rad21	A	G	15: 51,831,834 (GRCm39)	F416L	probably damaging	Het
Scn5a	A	T	9: 119,368,793 (GRCm39)	I244N	probably damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Tnpo3	A	C	6: 29,579,618 (GRCm39)	N258K	probably benign	Het
Uba6	T	C	5: 86,272,229 (GRCm39)	D789G	possibly damaging	Het
Vmn1r226	T	G	17: 20,907,992 (GRCm39)	L75V	probably benign	Het
Zfp729b	A	C	13: 67,739,820 (GRCm39)	V815G	possibly damaging	Het

Other mutations in Dock3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00940:Dock3	APN	9	106,788,576 (GRCm39)	splice site	probably benign
IGL01067:Dock3	APN	9	106,959,572 (GRCm39)	critical splice donor site	probably null
IGL01160:Dock3	APN	9	106,783,887 (GRCm39)	missense	probably damaging	1.00
IGL01290:Dock3	APN	9	106,835,599 (GRCm39)	splice site	probably benign
IGL01291:Dock3	APN	9	106,835,599 (GRCm39)	splice site	probably benign
IGL01391:Dock3	APN	9	106,784,433 (GRCm39)	missense	possibly damaging	0.55
IGL01399:Dock3	APN	9	106,870,670 (GRCm39)	missense	probably benign	0.06
IGL01660:Dock3	APN	9	106,909,563 (GRCm39)	splice site	probably benign
IGL01752:Dock3	APN	9	106,902,512 (GRCm39)	splice site	probably benign
IGL01820:Dock3	APN	9	106,773,092 (GRCm39)	missense	probably damaging	1.00
IGL01908:Dock3	APN	9	106,783,861 (GRCm39)	missense	possibly damaging	0.81
IGL02191:Dock3	APN	9	106,815,340 (GRCm39)	missense	probably benign
IGL02227:Dock3	APN	9	106,939,254 (GRCm39)	missense	probably damaging	0.98
IGL02309:Dock3	APN	9	106,790,351 (GRCm39)	missense	probably damaging	1.00
IGL02408:Dock3	APN	9	106,790,298 (GRCm39)	splice site	probably benign
IGL02469:Dock3	APN	9	106,863,215 (GRCm39)	missense	probably damaging	0.98
IGL02545:Dock3	APN	9	106,939,271 (GRCm39)	missense	probably damaging	1.00
IGL02894:Dock3	APN	9	106,807,298 (GRCm39)	missense	probably benign	0.00
IGL02934:Dock3	APN	9	106,900,944 (GRCm39)	missense	probably benign	0.01
IGL03027:Dock3	APN	9	106,870,677 (GRCm39)	missense	probably damaging	0.98
IGL03068:Dock3	APN	9	106,841,958 (GRCm39)	missense	possibly damaging	0.82
IGL03128:Dock3	APN	9	106,909,491 (GRCm39)	missense	probably benign	0.05
IGL03161:Dock3	APN	9	106,900,987 (GRCm39)	missense	probably damaging	0.99
IGL03263:Dock3	APN	9	106,807,330 (GRCm39)	splice site	probably benign
IGL03279:Dock3	APN	9	106,788,447 (GRCm39)	splice site	probably benign
IGL03366:Dock3	APN	9	106,882,632 (GRCm39)	missense	probably benign	0.01
Implosion	UTSW	9	106,815,125 (GRCm39)	missense	probably benign	0.00
Squeeze	UTSW	9	106,807,242 (GRCm39)	missense	probably damaging	1.00
Tight	UTSW	9	106,872,080 (GRCm39)	missense	probably damaging	1.00
ANU05:Dock3	UTSW	9	106,772,862 (GRCm39)	missense	probably benign
R0025:Dock3	UTSW	9	106,790,467 (GRCm39)	missense	possibly damaging	0.90
R0025:Dock3	UTSW	9	106,790,467 (GRCm39)	missense	possibly damaging	0.90
R0030:Dock3	UTSW	9	106,789,512 (GRCm39)	missense	possibly damaging	0.64
R0076:Dock3	UTSW	9	106,788,685 (GRCm39)	splice site	probably benign
R0076:Dock3	UTSW	9	106,788,685 (GRCm39)	splice site	probably benign
R0206:Dock3	UTSW	9	106,874,195 (GRCm39)	nonsense	probably null
R0208:Dock3	UTSW	9	106,874,195 (GRCm39)	nonsense	probably null
R0384:Dock3	UTSW	9	106,779,094 (GRCm39)	splice site	probably benign
R0610:Dock3	UTSW	9	106,900,987 (GRCm39)	missense	probably damaging	0.99
R0731:Dock3	UTSW	9	106,847,055 (GRCm39)	missense	probably damaging	1.00
R1184:Dock3	UTSW	9	106,846,999 (GRCm39)	missense	probably damaging	1.00
R1350:Dock3	UTSW	9	106,791,831 (GRCm39)	missense	possibly damaging	0.52
R1393:Dock3	UTSW	9	106,788,548 (GRCm39)	missense	probably damaging	1.00
R1424:Dock3	UTSW	9	106,790,392 (GRCm39)	missense	probably damaging	1.00
R1469:Dock3	UTSW	9	106,832,908 (GRCm39)	missense	probably benign	0.37
R1469:Dock3	UTSW	9	106,832,908 (GRCm39)	missense	probably benign	0.37
R1539:Dock3	UTSW	9	106,874,112 (GRCm39)	missense	probably benign	0.23
R1539:Dock3	UTSW	9	106,829,563 (GRCm39)	missense	probably damaging	1.00
R1571:Dock3	UTSW	9	106,815,158 (GRCm39)	missense	possibly damaging	0.92
R1682:Dock3	UTSW	9	106,851,040 (GRCm39)	missense	probably damaging	0.98
R1795:Dock3	UTSW	9	106,902,534 (GRCm39)	missense	probably damaging	0.99
R1987:Dock3	UTSW	9	106,985,620 (GRCm39)	missense	probably benign	0.01
R2000:Dock3	UTSW	9	106,870,160 (GRCm39)	splice site	probably benign
R2074:Dock3	UTSW	9	106,870,662 (GRCm39)	missense	possibly damaging	0.46
R2114:Dock3	UTSW	9	106,870,743 (GRCm39)	missense	probably benign	0.00
R2265:Dock3	UTSW	9	106,818,525 (GRCm39)	missense	probably damaging	1.00
R2269:Dock3	UTSW	9	106,818,525 (GRCm39)	missense	probably damaging	1.00
R2370:Dock3	UTSW	9	106,829,554 (GRCm39)	missense	probably damaging	1.00
R2385:Dock3	UTSW	9	106,868,324 (GRCm39)	missense	probably damaging	1.00
R2426:Dock3	UTSW	9	106,791,740 (GRCm39)	missense	possibly damaging	0.76
R3076:Dock3	UTSW	9	106,818,725 (GRCm39)	critical splice acceptor site	probably null
R3122:Dock3	UTSW	9	106,788,542 (GRCm39)	missense	probably damaging	0.99
R4052:Dock3	UTSW	9	106,850,995 (GRCm39)	missense	probably damaging	0.99
R4294:Dock3	UTSW	9	106,807,242 (GRCm39)	missense	probably damaging	1.00
R4623:Dock3	UTSW	9	106,939,244 (GRCm39)	missense	possibly damaging	0.61
R4664:Dock3	UTSW	9	106,870,743 (GRCm39)	missense	possibly damaging	0.71
R4705:Dock3	UTSW	9	106,902,535 (GRCm39)	missense	probably damaging	1.00
R4771:Dock3	UTSW	9	106,829,557 (GRCm39)	missense	possibly damaging	0.89
R4898:Dock3	UTSW	9	106,870,171 (GRCm39)	missense	possibly damaging	0.75
R4898:Dock3	UTSW	9	106,807,266 (GRCm39)	missense	probably damaging	1.00
R4948:Dock3	UTSW	9	106,868,354 (GRCm39)	missense	probably damaging	0.96
R4961:Dock3	UTSW	9	106,818,515 (GRCm39)	missense	probably damaging	1.00
R4986:Dock3	UTSW	9	106,809,182 (GRCm39)	missense	probably damaging	1.00
R5054:Dock3	UTSW	9	106,815,105 (GRCm39)	missense	probably damaging	1.00
R5065:Dock3	UTSW	9	106,832,883 (GRCm39)	missense	probably damaging	1.00
R5081:Dock3	UTSW	9	106,868,292 (GRCm39)	missense	probably damaging	1.00
R5101:Dock3	UTSW	9	106,846,980 (GRCm39)	missense	probably damaging	1.00
R5135:Dock3	UTSW	9	106,810,196 (GRCm39)	missense	probably damaging	1.00
R5227:Dock3	UTSW	9	106,863,269 (GRCm39)	missense	probably damaging	1.00
R5257:Dock3	UTSW	9	106,874,124 (GRCm39)	missense	probably damaging	1.00
R5258:Dock3	UTSW	9	106,874,124 (GRCm39)	missense	probably damaging	1.00
R5273:Dock3	UTSW	9	106,777,904 (GRCm39)	critical splice donor site	probably null
R5322:Dock3	UTSW	9	106,779,028 (GRCm39)	missense	probably benign	0.14
R5482:Dock3	UTSW	9	106,855,937 (GRCm39)	nonsense	probably null
R5553:Dock3	UTSW	9	106,868,309 (GRCm39)	missense	possibly damaging	0.81
R5631:Dock3	UTSW	9	106,832,898 (GRCm39)	missense	probably benign	0.01
R5739:Dock3	UTSW	9	106,850,995 (GRCm39)	missense	possibly damaging	0.92
R5838:Dock3	UTSW	9	106,772,687 (GRCm39)	missense	possibly damaging	0.51
R5888:Dock3	UTSW	9	106,901,002 (GRCm39)	missense	probably benign	0.12
R5960:Dock3	UTSW	9	106,788,554 (GRCm39)	nonsense	probably null
R5974:Dock3	UTSW	9	106,871,261 (GRCm39)	missense	probably damaging	1.00
R6116:Dock3	UTSW	9	106,809,161 (GRCm39)	missense	probably damaging	1.00
R6162:Dock3	UTSW	9	106,841,998 (GRCm39)	missense	possibly damaging	0.88
R6176:Dock3	UTSW	9	106,790,147 (GRCm39)	missense	probably benign	0.05
R6219:Dock3	UTSW	9	106,872,080 (GRCm39)	missense	probably damaging	1.00
R6238:Dock3	UTSW	9	106,790,147 (GRCm39)	missense	probably benign	0.05
R6266:Dock3	UTSW	9	106,841,952 (GRCm39)	missense	probably damaging	0.99
R6291:Dock3	UTSW	9	106,785,631 (GRCm39)	missense	probably benign
R6531:Dock3	UTSW	9	106,844,415 (GRCm39)	missense	probably benign
R6567:Dock3	UTSW	9	106,773,946 (GRCm39)	missense	probably benign	0.13
R6572:Dock3	UTSW	9	106,866,674 (GRCm39)	missense	probably damaging	0.99
R6620:Dock3	UTSW	9	106,815,125 (GRCm39)	missense	probably benign	0.00
R6726:Dock3	UTSW	9	107,036,651 (GRCm39)	nonsense	probably null
R7085:Dock3	UTSW	9	106,779,086 (GRCm39)	missense	probably damaging	1.00
R7151:Dock3	UTSW	9	106,841,916 (GRCm39)	missense	possibly damaging	0.68
R7320:Dock3	UTSW	9	106,772,723 (GRCm39)	missense	probably benign	0.20
R7357:Dock3	UTSW	9	106,882,568 (GRCm39)	missense	probably benign	0.34
R7423:Dock3	UTSW	9	106,844,370 (GRCm39)	missense	probably damaging	0.98
R7426:Dock3	UTSW	9	106,772,782 (GRCm39)	missense	probably benign
R7439:Dock3	UTSW	9	106,900,931 (GRCm39)	missense	probably damaging	1.00
R7452:Dock3	UTSW	9	106,866,664 (GRCm39)	missense	probably damaging	1.00
R7470:Dock3	UTSW	9	106,882,644 (GRCm39)	missense	probably damaging	1.00
R7879:Dock3	UTSW	9	106,785,700 (GRCm39)	missense	probably benign	0.05
R8047:Dock3	UTSW	9	106,870,208 (GRCm39)	missense	possibly damaging	0.93
R8308:Dock3	UTSW	9	106,790,371 (GRCm39)	missense	probably benign	0.00
R8837:Dock3	UTSW	9	106,774,539 (GRCm39)	missense	probably benign
R8862:Dock3	UTSW	9	106,855,927 (GRCm39)	missense	probably damaging	1.00
R8952:Dock3	UTSW	9	106,850,958 (GRCm39)	missense	probably benign	0.03
R9230:Dock3	UTSW	9	106,807,223 (GRCm39)	missense	probably damaging	1.00
R9269:Dock3	UTSW	9	106,818,522 (GRCm39)	missense	probably benign	0.01
R9272:Dock3	UTSW	9	106,774,569 (GRCm39)	missense	probably benign	0.00
R9344:Dock3	UTSW	9	106,870,763 (GRCm39)	missense	probably damaging	1.00
R9757:Dock3	UTSW	9	106,901,035 (GRCm39)	missense	possibly damaging	0.48
R9764:Dock3	UTSW	9	106,959,713 (GRCm39)	missense	probably benign	0.00
R9766:Dock3	UTSW	9	106,788,483 (GRCm39)	missense	probably benign	0.01
X0023:Dock3	UTSW	9	106,863,197 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GTCTTCATCGCCATTCCAGG -3'
(R):5'- ATTGGCTCTCAGACATCATAGTG -3'

Sequencing Primer
(F):5'- ATGGAGTCCATGGTGTCT -3'
(R):5'- CATCATAGTGATGCTGGAGCTCC -3'

Posted On

2014-11-11