Mutagenetix > Incidental Mutation

Incidental Mutation 'R6111:Dock2'

484854

Institutional Source

Beutler Lab

Gene Symbol

Dock2

Ensembl Gene

ENSMUSG00000020143

Gene Name

dedicator of cyto-kinesis 2

Synonyms

CED-5, MBC, Hch

MMRRC Submission

044260-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6111 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34226815-34783892 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34708787 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 322 (P322S)

Ref Sequence

ENSEMBL: ENSMUSP00000090884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093193] [ENSMUST00000101365] [ENSMUST00000143540]

AlphaFold

Q8C3J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000093193
AA Change: P322S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090884
Gene: ENSMUSG00000020143
AA Change: P322S

Domain	Start	End	E-Value	Type
SH3	11	68	1.22e-11	SMART
Pfam:DOCK_N	71	414	2e-113	PFAM
Pfam:DOCK-C2	419	616	1e-60	PFAM
Pfam:DHR-2	1114	1614	6.3e-96	PFAM
low complexity region	1691	1706	N/A	INTRINSIC
low complexity region	1793	1800	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101365
AA Change: P322S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098916
Gene: ENSMUSG00000020143
AA Change: P322S

Domain	Start	End	E-Value	Type
SH3	11	68	1.22e-11	SMART
Pfam:DOCK_N	71	414	1.4e-113	PFAM
Pfam:DOCK-C2	419	616	5.5e-61	PFAM
low complexity region	1163	1171	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000143540
AA Change: P322S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116893
Gene: ENSMUSG00000020143
AA Change: P322S

Domain	Start	End	E-Value	Type
SH3	11	68	1.22e-11	SMART
Pfam:DOCK-C2	418	617	1.8e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154178

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygous mutants are defective in the migration of T and B lympohcytes in response to chemokines, and thus display immune defects such as lymphocytopenia, atrophy of lymphoid follicles and loss of marginal-zone B cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810011H11Rik	T	C	14: 32,806,798	I40T	possibly damaging	Het
2210408I21Rik	A	G	13: 77,327,902	E1110G	possibly damaging	Het
Abcd4	G	A	12: 84,615,114	T79I	probably damaging	Het
Acd	A	G	8: 105,698,287	M407T	probably benign	Het
Adcy2	T	A	13: 68,729,241	H460L	probably damaging	Het
Arntl2	T	C	6: 146,820,599	F223L	probably benign	Het
Atad2	G	A	15: 58,108,091	H752Y	probably benign	Het
Camsap2	A	G	1: 136,281,298	S819P	probably benign	Het
Col24a1	C	A	3: 145,314,054	T62K	probably damaging	Het
Cpne6	G	A	14: 55,514,634	V283M	probably benign	Het
D630003M21Rik	A	G	2: 158,213,448	S590P	probably damaging	Het
Daam1	T	A	12: 71,942,264	M146K	unknown	Het
Dclk2	A	G	3: 86,805,661	Y495H	probably benign	Het
Ddx4	A	T	13: 112,621,232	C330*	probably null	Het
Dlec1	T	C	9: 119,102,624	L37P	possibly damaging	Het
Espl1	A	G	15: 102,299,888	E443G	probably damaging	Het
Eya4	T	A	10: 23,140,055	D338V	possibly damaging	Het
Fcmr	A	G	1: 130,877,829	I267V	probably damaging	Het
Gfra3	T	A	18: 34,690,874	H349L	probably damaging	Het
Gm25747	A	G	12: 113,429,083		probably benign	Het
Gria4	G	A	9: 4,502,430	R368C	probably damaging	Het
H2-Q5	A	T	17: 35,394,909	I145F	possibly damaging	Het
Hace1	A	T	10: 45,589,510	K54I	possibly damaging	Het
Ift122	T	A	6: 115,875,286	I79N	probably damaging	Het
Ino80b	A	G	6: 83,124,366	V121A	probably damaging	Het
Kcnq1	A	G	7: 143,107,737	T63A	probably benign	Het
Map4k4	C	A	1: 40,011,662	Q762K	probably benign	Het
Mios	G	A	6: 8,214,836	A11T	probably benign	Het
Nfatc1	A	G	18: 80,697,910	S278P	probably damaging	Het
Notch2	T	C	3: 98,146,293	S2091P	probably benign	Het
Nudt19	T	A	7: 35,555,527	D93V	probably benign	Het
Olfr875	T	C	9: 37,772,932	I91T	probably damaging	Het
Osbpl2	A	G	2: 180,150,201	T233A	probably benign	Het
P3h1	C	T	4: 119,241,132	R369*	probably null	Het
Pcdhb3	A	T	18: 37,302,189	I403L	probably benign	Het
Pigo	T	C	4: 43,019,724	D935G	probably benign	Het
Plpp1	A	G	13: 112,866,917	H224R	probably damaging	Het
Rai1	T	A	11: 60,187,906	M932K	probably damaging	Het
Rexo2	A	T	9: 48,473,112	F122L	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Sdc3	A	G	4: 130,818,842	T77A	unknown	Het
Skint5	T	C	4: 113,705,648	T786A	unknown	Het
Smok3c	C	A	5: 138,065,103	P284Q	probably damaging	Het
Spg11	A	G	2: 122,093,482	V786A	probably damaging	Het
Tnfrsf10b	T	A	14: 69,782,558	C380S	possibly damaging	Het
Tsen54	T	C	11: 115,820,130	V176A	possibly damaging	Het
Ttll4	A	T	1: 74,697,539	K1141M	possibly damaging	Het
Ttpa	A	T	4: 20,014,772	I116F	probably damaging	Het
Tubgcp6	T	C	15: 89,100,920	D1655G	possibly damaging	Het
Usp38	A	G	8: 81,013,922	V172A	probably damaging	Het
Vmn2r73	A	G	7: 85,871,789	S324P	probably benign	Het
Wdr72	T	C	9: 74,210,325	M773T	probably benign	Het
Xirp2	T	A	2: 67,511,817	H1467Q	possibly damaging	Het
Zdhhc8	G	T	16: 18,224,898	S479R	probably damaging	Het
Zfp423	A	G	8: 87,782,687	V322A	probably damaging	Het
Zfp72	T	G	13: 74,372,385	E191D	probably benign	Het
Zfp933	T	C	4: 147,828,760	T14A	probably damaging	Het

Other mutations in Dock2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Dock2	APN	11	34704661	missense	probably damaging	1.00
IGL00469:Dock2	APN	11	34229603	splice site	probably benign
IGL01061:Dock2	APN	11	34705826	missense	probably damaging	1.00
IGL01319:Dock2	APN	11	34698790	missense	possibly damaging	0.61
IGL01451:Dock2	APN	11	34310390	missense	probably damaging	1.00
IGL01490:Dock2	APN	11	34705781	missense	probably damaging	0.97
IGL01601:Dock2	APN	11	34239528	critical splice donor site	probably null
IGL01800:Dock2	APN	11	34756273	missense	probably damaging	1.00
IGL01804:Dock2	APN	11	34262433	missense	probably benign	0.01
IGL01823:Dock2	APN	11	34262391	missense	probably damaging	1.00
IGL01829:Dock2	APN	11	34705841	missense	probably damaging	0.98
IGL01830:Dock2	APN	11	34691917	nonsense	probably null
IGL01835:Dock2	APN	11	34310435	missense	possibly damaging	0.51
IGL01845:Dock2	APN	11	34708865	missense	probably benign	0.02
IGL01953:Dock2	APN	11	34732356	missense	probably benign	0.28
IGL01989:Dock2	APN	11	34268053	missense	probably benign
IGL02081:Dock2	APN	11	34254355	missense	probably benign
IGL02105:Dock2	APN	11	34714525	missense	probably damaging	1.00
IGL02153:Dock2	APN	11	34230670	missense	probably benign	0.01
IGL02170:Dock2	APN	11	34267949	missense	probably damaging	1.00
IGL02344:Dock2	APN	11	34731510	missense	probably damaging	0.98
IGL02389:Dock2	APN	11	34698740	splice site	probably benign
IGL02409:Dock2	APN	11	34501204	missense	probably benign	0.00
IGL02472:Dock2	APN	11	34249801	missense	probably benign	0.00
IGL02625:Dock2	APN	11	34501168	critical splice donor site	probably null
IGL02929:Dock2	APN	11	34268048	missense	probably damaging	1.00
IGL02951:Dock2	APN	11	34310448	unclassified	probably benign
IGL02999:Dock2	APN	11	34692259	missense	probably damaging	0.99
IGL03165:Dock2	APN	11	34687533	missense	probably damaging	0.99
Arches	UTSW	11	34689760	missense	probably damaging	1.00
capitol_reef	UTSW	11	34294170	critical splice acceptor site	probably null
Croesus	UTSW	11	34721027	missense	probably damaging	1.00
denali	UTSW	11	34229472	critical splice donor site	probably null
dew	UTSW	11	34248636	nonsense	probably null
Dinghy	UTSW	11	34262460	missense	possibly damaging	0.70
Dry	UTSW	11	34231652	missense	possibly damaging	0.79
frazz	UTSW	11	34248572	critical splice donor site	probably benign
frizz	UTSW	11	34258184	splice site	probably benign
gildenstern	UTSW	11	34732339	critical splice donor site	probably null
godsgrace	UTSW	11	34695453	missense	probably damaging	1.00
Harborside	UTSW	11	34262445	missense	probably benign
Landing	UTSW	11	34714501	missense	possibly damaging	0.83
latest	UTSW	11	34756222	missense	probably damaging	1.00
Launch	UTSW	11	34256562	missense	probably damaging	1.00
liaoning	UTSW	11	34708793	missense	probably damaging	1.00
lucre	UTSW	11	34704609	frame shift	probably null
midas	UTSW	11	34294323	missense	probably damaging	0.99
muelle	UTSW	11	34687538	missense	probably damaging	1.00
narrowest	UTSW	11	34282652	missense	probably damaging	0.98
pier	UTSW	11	34689766	missense	probably damaging	1.00
Plank	UTSW	11	34783795	missense	possibly damaging	0.51
resplendent	UTSW	11	34727460	nonsense	probably null
riches	UTSW	11	34688452	critical splice donor site	probably null
skiff	UTSW	11	34262388	missense	probably null	0.80
Slip	UTSW	11	34294286	missense	probably benign	0.25
toothskin	UTSW	11	34464922	missense	probably damaging	1.00
Touch	UTSW	11	34273750	missense	possibly damaging	0.95
wassup	UTSW	11	34503413	missense	probably damaging	1.00
Wharf	UTSW	11	34732371	missense	possibly damaging	0.81
BB009:Dock2	UTSW	11	34267998	missense	probably benign	0.00
BB019:Dock2	UTSW	11	34267998	missense	probably benign	0.00
IGL03052:Dock2	UTSW	11	34232853	missense	probably benign	0.01
PIT4377001:Dock2	UTSW	11	34721008	missense	probably benign	0.02
R0006:Dock2	UTSW	11	34312453	unclassified	probably benign
R0012:Dock2	UTSW	11	34783795	missense	possibly damaging	0.51
R0063:Dock2	UTSW	11	34756284	critical splice acceptor site	probably null
R0063:Dock2	UTSW	11	34756284	critical splice acceptor site	probably null
R0116:Dock2	UTSW	11	34688565	intron	probably benign
R0149:Dock2	UTSW	11	34438327	missense	probably damaging	1.00
R0361:Dock2	UTSW	11	34438327	missense	probably damaging	1.00
R0462:Dock2	UTSW	11	34268052	missense	possibly damaging	0.74
R0471:Dock2	UTSW	11	34688553	missense	probably benign	0.30
R0538:Dock2	UTSW	11	34704718	splice site	probably benign
R0543:Dock2	UTSW	11	34294325	missense	probably damaging	1.00
R0660:Dock2	UTSW	11	34248621	missense	probably damaging	1.00
R0676:Dock2	UTSW	11	34695236	missense	probably damaging	0.99
R0722:Dock2	UTSW	11	34464970	splice site	probably benign
R0801:Dock2	UTSW	11	34708793	missense	probably damaging	1.00
R1110:Dock2	UTSW	11	34256535	missense	possibly damaging	0.78
R1171:Dock2	UTSW	11	34695241	missense	probably damaging	1.00
R1387:Dock2	UTSW	11	34273309	splice site	probably benign
R1445:Dock2	UTSW	11	34239705	missense	probably benign
R1494:Dock2	UTSW	11	34282761	nonsense	probably null
R1589:Dock2	UTSW	11	34706461	missense	probably damaging	0.99
R1597:Dock2	UTSW	11	34704647	missense	probably benign	0.00
R1629:Dock2	UTSW	11	34262480	splice site	probably null
R1749:Dock2	UTSW	11	34232767	critical splice donor site	probably null
R1888:Dock2	UTSW	11	34707342	missense	probably damaging	1.00
R1888:Dock2	UTSW	11	34707342	missense	probably damaging	1.00
R1899:Dock2	UTSW	11	34294286	missense	probably benign	0.25
R1924:Dock2	UTSW	11	34464934	missense	possibly damaging	0.69
R2031:Dock2	UTSW	11	34727470	splice site	probably benign
R2045:Dock2	UTSW	11	34294106	splice site	probably null
R2098:Dock2	UTSW	11	34266279	missense	probably benign	0.16
R2098:Dock2	UTSW	11	34719005	missense	probably damaging	0.99
R2129:Dock2	UTSW	11	34727415	missense	probably damaging	1.00
R2147:Dock2	UTSW	11	34229472	critical splice donor site	probably null
R2149:Dock2	UTSW	11	34229472	critical splice donor site	probably null
R2150:Dock2	UTSW	11	34229472	critical splice donor site	probably null
R2176:Dock2	UTSW	11	34695217	missense	probably benign	0.00
R2230:Dock2	UTSW	11	34294323	missense	probably damaging	0.99
R2508:Dock2	UTSW	11	34312485	missense	probably benign	0.04
R2875:Dock2	UTSW	11	34718885	missense	probably damaging	1.00
R2885:Dock2	UTSW	11	34689766	missense	probably damaging	1.00
R2910:Dock2	UTSW	11	34232910	splice site	probably benign
R3081:Dock2	UTSW	11	34231610	missense	probably benign
R3418:Dock2	UTSW	11	34689760	missense	probably damaging	1.00
R3552:Dock2	UTSW	11	34720960	missense	probably benign	0.22
R3731:Dock2	UTSW	11	34708895	missense	probably damaging	1.00
R3846:Dock2	UTSW	11	34732371	missense	possibly damaging	0.81
R4135:Dock2	UTSW	11	34714501	missense	possibly damaging	0.83
R4598:Dock2	UTSW	11	34239536	missense	probably damaging	1.00
R4599:Dock2	UTSW	11	34239536	missense	probably damaging	1.00
R4715:Dock2	UTSW	11	34294118	missense	probably damaging	1.00
R4722:Dock2	UTSW	11	34695471	missense	probably damaging	1.00
R4742:Dock2	UTSW	11	34294170	critical splice acceptor site	probably null
R4830:Dock2	UTSW	11	34273767	splice site	probably null
R4884:Dock2	UTSW	11	34266248	missense	probably damaging	1.00
R4990:Dock2	UTSW	11	34695251	missense	probably damaging	1.00
R5334:Dock2	UTSW	11	34228643	missense	probably benign	0.00
R5570:Dock2	UTSW	11	34727406	missense	probably damaging	1.00
R5602:Dock2	UTSW	11	34254391	missense	probably benign	0.16
R5681:Dock2	UTSW	11	34249836	missense	probably benign	0.06
R5809:Dock2	UTSW	11	34262445	missense	probably benign
R5860:Dock2	UTSW	11	34256562	missense	probably damaging	1.00
R6155:Dock2	UTSW	11	34294123	missense	probably benign	0.06
R6156:Dock2	UTSW	11	34247789	missense	possibly damaging	0.51
R6173:Dock2	UTSW	11	34262388	missense	probably null	0.80
R6182:Dock2	UTSW	11	34229476	missense	probably damaging	0.97
R6188:Dock2	UTSW	11	34503396	missense	probably damaging	0.98
R6191:Dock2	UTSW	11	34231652	missense	possibly damaging	0.79
R6283:Dock2	UTSW	11	34707325	missense	probably damaging	0.99
R6395:Dock2	UTSW	11	34232874	missense	probably damaging	1.00
R6465:Dock2	UTSW	11	34503413	missense	probably damaging	1.00
R6500:Dock2	UTSW	11	34362822	missense	possibly damaging	0.76
R6561:Dock2	UTSW	11	34687538	missense	probably damaging	1.00
R6745:Dock2	UTSW	11	34705842	missense	probably damaging	1.00
R6745:Dock2	UTSW	11	34705843	missense	probably damaging	1.00
R6880:Dock2	UTSW	11	34688452	critical splice donor site	probably null
R6913:Dock2	UTSW	11	34756222	missense	probably damaging	1.00
R6997:Dock2	UTSW	11	34464922	missense	probably damaging	1.00
R7057:Dock2	UTSW	11	34227684	missense	probably benign	0.10
R7057:Dock2	UTSW	11	34695217	missense	probably benign	0.00
R7134:Dock2	UTSW	11	34310363	missense	probably benign	0.03
R7188:Dock2	UTSW	11	34239675	missense	possibly damaging	0.87
R7239:Dock2	UTSW	11	34231677	missense	probably benign	0.00
R7247:Dock2	UTSW	11	34714513	nonsense	probably null
R7250:Dock2	UTSW	11	34695205	missense	probably benign	0.01
R7250:Dock2	UTSW	11	34695293	missense	probably damaging	1.00
R7271:Dock2	UTSW	11	34273750	missense	possibly damaging	0.95
R7284:Dock2	UTSW	11	34230672	missense	probably benign	0.01
R7397:Dock2	UTSW	11	34718989	missense	probably benign	0.00
R7464:Dock2	UTSW	11	34695278	missense	probably damaging	0.99
R7512:Dock2	UTSW	11	34312542	missense	possibly damaging	0.95
R7556:Dock2	UTSW	11	34720951	missense	probably benign	0.43
R7663:Dock2	UTSW	11	34721027	missense	probably damaging	1.00
R7779:Dock2	UTSW	11	34714455	missense	probably benign	0.38
R7797:Dock2	UTSW	11	34282652	missense	probably damaging	0.98
R7855:Dock2	UTSW	11	34273698	missense	probably damaging	1.00
R7922:Dock2	UTSW	11	34707327	missense	probably benign	0.29
R7932:Dock2	UTSW	11	34267998	missense	probably benign	0.00
R8013:Dock2	UTSW	11	34705850	missense	probably damaging	0.96
R8192:Dock2	UTSW	11	34732339	critical splice donor site	probably null
R8244:Dock2	UTSW	11	34695453	missense	probably damaging	1.00
R8307:Dock2	UTSW	11	34310362	missense	possibly damaging	0.95
R8418:Dock2	UTSW	11	34718968	missense	probably benign	0.01
R8460:Dock2	UTSW	11	34230825	critical splice acceptor site	probably null
R8495:Dock2	UTSW	11	34231622	missense	probably benign	0.14
R8556:Dock2	UTSW	11	34262457	missense	possibly damaging	0.84
R8690:Dock2	UTSW	11	34727460	nonsense	probably null
R8743:Dock2	UTSW	11	34273252	nonsense	probably null
R8757:Dock2	UTSW	11	34695240	missense	probably benign	0.13
R8759:Dock2	UTSW	11	34695240	missense	probably benign	0.13
R8793:Dock2	UTSW	11	34501215	missense	probably benign	0.00
R8882:Dock2	UTSW	11	34704609	frame shift	probably null
R8885:Dock2	UTSW	11	34310396	missense	probably benign	0.01
R8943:Dock2	UTSW	11	34708819	missense	possibly damaging	0.63
R9171:Dock2	UTSW	11	34698843	missense	probably benign	0.12
R9182:Dock2	UTSW	11	34310398	missense	possibly damaging	0.51
R9203:Dock2	UTSW	11	34731539	missense	possibly damaging	0.92
R9310:Dock2	UTSW	11	34294139	missense	possibly damaging	0.71
R9388:Dock2	UTSW	11	34262460	missense	possibly damaging	0.70
R9490:Dock2	UTSW	11	34698755	missense	possibly damaging	0.90
R9568:Dock2	UTSW	11	34708811	missense	possibly damaging	0.83
R9593:Dock2	UTSW	11	34228607	missense	probably benign	0.34
R9694:Dock2	UTSW	11	34268054	missense	probably benign
R9697:Dock2	UTSW	11	34254417	missense	probably benign
R9753:Dock2	UTSW	11	34273673	missense	possibly damaging	0.68
R9783:Dock2	UTSW	11	34258128	missense	possibly damaging	0.83
X0017:Dock2	UTSW	11	34266271	missense	probably benign	0.08
X0018:Dock2	UTSW	11	34232833	missense	possibly damaging	0.65
X0058:Dock2	UTSW	11	34256564	missense	probably damaging	1.00
X0066:Dock2	UTSW	11	34310357	missense	possibly damaging	0.95
Z1088:Dock2	UTSW	11	34438300	missense	probably benign	0.14
Z1088:Dock2	UTSW	11	34692382	missense	probably damaging	1.00
Z1088:Dock2	UTSW	11	34695212	nonsense	probably null
Z1176:Dock2	UTSW	11	34718924	missense	probably benign	0.04
Z1177:Dock2	UTSW	11	34312553	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CCATAAATCTGAACTTAGTCACCGGTG -3'
(R):5'- CACAGTCCTTTAAATGACAGTTGC -3'

Sequencing Primer
(F):5'- GACTTCGGTTAGTCGTCACAAATG -3'
(R):5'- AAATGACAGTTGCTTTGTTCCTG -3'

Posted On

2017-08-16