Mutagenetix > Incidental Mutations

Incidental Mutation 'R4795:Dab2'

368975

Institutional Source

Beutler Lab

Gene Symbol

Dab2

Ensembl Gene

ENSMUSG00000022150

Gene Name

disabled 2, mitogen-responsive phosphoprotein

Synonyms

5730435J12Rik, p96, D630005B22Rik, D15Wsu122e

MMRRC Submission

041996-MU

Accession Numbers

Genbank: NM_023118, NM_001008702, MGI: 109175

Is this an essential gene?

Probably essential (E-score: 0.899) question?

Stock #

R4795 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6299788-6440712 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6429611 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 335 (P335T)

Ref Sequence

ENSEMBL: ENSMUSP00000079689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078019] [ENSMUST00000080880] [ENSMUST00000110663] [ENSMUST00000110664] [ENSMUST00000160134] [ENSMUST00000161040] [ENSMUST00000161812]

Predicted Effect

probably benign
Transcript: ENSMUST00000078019

SMART Domains

Protein: ENSMUSP00000077166
Gene: ENSMUSG00000022150

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PTB	45	179	1.16e-27	SMART
low complexity region	270	288	N/A	INTRINSIC
low complexity region	292	306	N/A	INTRINSIC
low complexity region	335	355	N/A	INTRINSIC
low complexity region	378	394	N/A	INTRINSIC
PDB:3H8D\|H	465	493	2e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000080880
AA Change: P335T

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150
AA Change: P335T

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PTB	45	179	1.16e-27	SMART
low complexity region	488	506	N/A	INTRINSIC
low complexity region	510	524	N/A	INTRINSIC
low complexity region	553	573	N/A	INTRINSIC
low complexity region	596	612	N/A	INTRINSIC
PDB:3H8D\|H	683	711	3e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000110663

SMART Domains

Protein: ENSMUSP00000106291
Gene: ENSMUSG00000022150

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PTB	45	179	1.16e-27	SMART
low complexity region	270	288	N/A	INTRINSIC
low complexity region	292	306	N/A	INTRINSIC
low complexity region	335	355	N/A	INTRINSIC
low complexity region	378	394	N/A	INTRINSIC
PDB:3H8D\|H	465	493	2e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000110664
AA Change: P314T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106292
Gene: ENSMUSG00000022150
AA Change: P314T

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PTB	45	179	1.16e-27	SMART
low complexity region	467	485	N/A	INTRINSIC
low complexity region	489	503	N/A	INTRINSIC
low complexity region	532	552	N/A	INTRINSIC
low complexity region	575	591	N/A	INTRINSIC
PDB:3H8D\|H	662	690	3e-12	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159552

Predicted Effect

probably benign
Transcript: ENSMUST00000160134

SMART Domains

Protein: ENSMUSP00000125021
Gene: ENSMUSG00000022150

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PTB	45	179	1.16e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161040

SMART Domains

Protein: ENSMUSP00000124478
Gene: ENSMUSG00000022150

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PTB	45	179	1.16e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161558

Predicted Effect

probably benign
Transcript: ENSMUST00000161812

SMART Domains

Protein: ENSMUSP00000124589
Gene: ENSMUSG00000022150

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PTB	45	179	1.16e-27	SMART
low complexity region	249	267	N/A	INTRINSIC
low complexity region	271	285	N/A	INTRINSIC
low complexity region	314	334	N/A	INTRINSIC
low complexity region	357	373	N/A	INTRINSIC
PDB:3H8D\|H	444	472	2e-12	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000163082
AA Change: P202T

SMART Domains

Protein: ENSMUSP00000124996
Gene: ENSMUSG00000022150
AA Change: P202T

Domain	Start	End	E-Value	Type
Blast:PTB	2	59	1e-33	BLAST
PDB:1P3R\|C	2	59	2e-34	PDB
SCOP:d1ddma_	3	59	9e-12	SMART
low complexity region	60	79	N/A	INTRINSIC
low complexity region	356	374	N/A	INTRINSIC
low complexity region	378	392	N/A	INTRINSIC
low complexity region	421	441	N/A	INTRINSIC
low complexity region	464	480	N/A	INTRINSIC
PDB:3H8D\|H	551	579	3e-12	PDB

Meta Mutation Damage Score

0.0897

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (123/125)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mutants exhibit abnormal primitive endoderm structure and/or function, lack a proamniotic cavity and die prior to embryonic day 9.5. A conditional mutant survives, but shows kidney proximal tubule abnormality. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,176,123	L2259R	probably damaging	Het
Acd	A	G	8: 105,701,015	S2P	possibly damaging	Het
Acsf3	A	G	8: 122,780,157	Y63C	possibly damaging	Het
Adam21	T	C	12: 81,560,974	I5V	probably benign	Het
Adamts6	C	A	13: 104,444,128	S783*	probably null	Het
Adamtsl1	T	C	4: 86,243,769		probably null	Het
Adck2	T	A	6: 39,576,393	S313T	probably benign	Het
Adgb	A	G	10: 10,357,872	I1285T	probably benign	Het
Angptl1	T	A	1: 156,860,583	M485K	possibly damaging	Het
Ank3	G	A	10: 69,858,265	V289I	probably benign	Het
Atp13a4	A	G	16: 29,490,008		probably null	Het
Atp1a1	A	G	3: 101,583,775	L648P	probably benign	Het
Atp2a3	A	G	11: 72,973,029	I194V	probably benign	Het
Bglap	A	C	3: 88,384,405	I4S	unknown	Het
Cacna1b	T	A	2: 24,637,487	T1621S	possibly damaging	Het
Ccdc112	T	A	18: 46,287,672	Q337L	probably benign	Het
Cd34	T	G	1: 194,951,011	S194A	probably damaging	Het
Cdh20	A	G	1: 104,941,264	D160G	probably damaging	Het
Clock	T	C	5: 76,265,916	K44R	probably damaging	Het
Commd9	A	G	2: 101,898,896	N116D	probably benign	Het
Epb41l3	T	A	17: 69,248,719		probably null	Het
Epha2	A	G	4: 141,322,416		probably null	Het
Fam78b	T	C	1: 167,078,647	V125A	probably benign	Het
Fars2	A	T	13: 36,537,426	E448V	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Glyr1	A	C	16: 5,047,758	V44G	probably benign	Het
Gm1527	A	G	3: 28,920,663	I542V	possibly damaging	Het
Gm18856	C	A	13: 13,965,208		probably benign	Het
Gm44501	A	G	17: 40,578,714	K40E	probably benign	Het
Gm6583	A	G	5: 112,355,299	S180P	possibly damaging	Het
Hdhd5	T	C	6: 120,523,446	H97R	probably benign	Het
Hmcn1	A	G	1: 150,753,611	V965A	probably benign	Het
Hsf5	A	G	11: 87,635,620	M373V	probably benign	Het
Igbp1b	C	T	6: 138,657,805	E214K	probably benign	Het
Iigp1	T	A	18: 60,389,892	F27L	probably benign	Het
Isl1	T	C	13: 116,305,430	N89S	probably benign	Het
Itga1	C	A	13: 115,035,385	W61C	probably damaging	Het
Itga5	T	C	15: 103,347,760	R922G	probably benign	Het
Kbtbd3	G	A	9: 4,331,073	W482*	probably null	Het
Kcnq1	A	G	7: 143,182,757	T168A	probably benign	Het
Lrch3	A	G	16: 33,005,704	N631S	probably damaging	Het
Lrrk1	T	A	7: 66,262,665	I1716F	possibly damaging	Het
Ly75	T	C	2: 60,349,940	E631G	probably benign	Het
Map4	T	C	9: 110,035,263	S519P	probably benign	Het
Mkl1	C	T	15: 81,017,033	S419N	probably damaging	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Muc5b	A	G	7: 141,849,567	E755G	unknown	Het
Ncaph2	T	G	15: 89,370,807	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967	R247G	possibly damaging	Het
Necab1	G	T	4: 15,111,208	D73E	possibly damaging	Het
Nedd9	T	C	13: 41,317,900	K208E	probably benign	Het
Nfyb	A	T	10: 82,752,368		probably benign	Het
Nol4	T	C	18: 22,921,887	Q162R	probably damaging	Het
Nwd2	G	A	5: 63,805,433	D787N	probably benign	Het
Olfr2	C	T	7: 107,001,335	G175D	probably damaging	Het
Olfr205	C	T	16: 59,328,850	V220I	probably benign	Het
Olfr49	A	G	14: 54,282,547	M116T	probably damaging	Het
Olfr535	A	G	7: 140,493,007	D123G	probably damaging	Het
Olfr713	A	T	7: 107,036,914	Y253F	probably benign	Het
Olfr740	A	C	14: 50,453,417	M122L	probably damaging	Het
Olfr908	T	A	9: 38,516,503	M157K	probably damaging	Het
Orai3	T	C	7: 127,773,888	V187A	probably benign	Het
Parn	T	C	16: 13,606,202	T444A	probably benign	Het
Pcdh11x	A	C	X: 120,400,240	N460T	probably damaging	Het
Pcnt	C	T	10: 76,370,024	R2516H	probably benign	Het
Pde4d	T	A	13: 109,938,171		probably benign	Het
Pdgfra	A	G	5: 75,189,311	N952S	probably benign	Het
Pgm1	A	G	5: 64,103,874	Y237C	probably damaging	Het
Plcb2	A	G	2: 118,711,124	V975A	probably benign	Het
Polk	T	C	13: 96,489,256	T347A	probably benign	Het
Ppp6r1	C	T	7: 4,641,054	V430M	possibly damaging	Het
Ptges2	C	A	2: 32,396,322	C16*	probably null	Het
Relb	A	T	7: 19,619,839	I38N	probably damaging	Het
Runx1t1	T	A	4: 13,837,767	N51K	probably damaging	Het
Samsn1	A	G	16: 75,883,845		probably benign	Het
Scrn1	A	G	6: 54,520,769	V279A	possibly damaging	Het
Sec31b	A	G	19: 44,531,746	S200P	probably benign	Het
Selp	A	G	1: 164,144,906	T705A	probably benign	Het
Slc2a1	G	A	4: 119,132,445	R61Q	probably damaging	Het
Slit3	G	A	11: 35,651,820		probably null	Het
Smo	T	A	6: 29,755,574	V415E	probably damaging	Het
Spag8	C	A	4: 43,652,035	V350L	possibly damaging	Het
Tbck	T	G	3: 132,707,798	L132R	possibly damaging	Het
Thnsl1	T	A	2: 21,212,045	C203*	probably null	Het
Tm9sf2	T	A	14: 122,149,840		probably null	Het
Tmem131	A	G	1: 36,841,676	V171A	probably damaging	Het
Tmem209	T	C	6: 30,501,955	T83A	probably benign	Het
Tmem63a	T	C	1: 180,954,851	Y138H	probably damaging	Het
Trim80	A	G	11: 115,447,943	Y533C	probably damaging	Het
Trpv2	A	G	11: 62,581,180	D66G	possibly damaging	Het
Trrap	T	A	5: 144,832,488	I2620N	probably benign	Het
Ttyh3	A	T	5: 140,634,786	I232N	probably damaging	Het
Ube2dnl1	G	A	X: 114,905,785	C119Y	possibly damaging	Het
Unc13c	T	A	9: 73,932,187	S461C	probably damaging	Het
Unc80	T	G	1: 66,527,941	I902S	probably damaging	Het
Usp42	C	A	5: 143,723,937	G170W	probably damaging	Het
Vldlr	T	C	19: 27,238,852		probably null	Het
Ywhab	A	G	2: 164,015,345	Y180C	probably damaging	Het
Zan	A	T	5: 137,380,850	C5329*	probably null	Het
Zbtb40	C	T	4: 136,998,642	M535I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfp318	A	G	17: 46,412,062	T1664A	probably benign	Het
Zfp7	T	A	15: 76,891,346	C529*	probably null	Het
Zfp768	T	C	7: 127,343,375	Q527R	possibly damaging	Het
Zfp975	T	A	7: 42,665,146		probably null	Het

Other mutations in Dab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Dab2	APN	15	6429825	missense	probably benign	0.00
IGL00731:Dab2	APN	15	6435710	missense	possibly damaging	0.95
IGL02382:Dab2	APN	15	6436987	missense	possibly damaging	0.62
IGL02598:Dab2	APN	15	6429366	missense	probably damaging	0.97
IGL03054:Dab2	APN	15	6418226	unclassified	probably benign
IGL03093:Dab2	APN	15	6436411	missense	probably damaging	1.00
IGL03369:Dab2	APN	15	6435309	missense	possibly damaging	0.64
IGL03372:Dab2	APN	15	6429549	missense	probably damaging	0.99
R0157:Dab2	UTSW	15	6429827	missense	probably benign	0.00
R0326:Dab2	UTSW	15	6418316	missense	probably damaging	1.00
R0488:Dab2	UTSW	15	6424654	missense	probably damaging	1.00
R0552:Dab2	UTSW	15	6435414	missense	possibly damaging	0.65
R0938:Dab2	UTSW	15	6435384	missense	probably benign	0.04
R1433:Dab2	UTSW	15	6429938	missense	probably damaging	1.00
R1635:Dab2	UTSW	15	6429870	missense	possibly damaging	0.80
R1713:Dab2	UTSW	15	6429701	missense	possibly damaging	0.94
R1757:Dab2	UTSW	15	6330452	intron	probably benign
R1800:Dab2	UTSW	15	6435467	missense	probably benign
R1837:Dab2	UTSW	15	6336476	intron	probably benign
R1999:Dab2	UTSW	15	6416917	missense	probably benign	0.32
R2050:Dab2	UTSW	15	6435215	missense	possibly damaging	0.47
R2117:Dab2	UTSW	15	6435615	missense	probably damaging	1.00
R2129:Dab2	UTSW	15	6336383	nonsense	probably null
R2150:Dab2	UTSW	15	6416917	missense	probably benign	0.32
R2329:Dab2	UTSW	15	6429563	missense	possibly damaging	0.80
R2338:Dab2	UTSW	15	6435252	missense	possibly damaging	0.62
R2680:Dab2	UTSW	15	6436993	missense	possibly damaging	0.89
R3978:Dab2	UTSW	15	6435163	critical splice acceptor site	probably null
R3979:Dab2	UTSW	15	6435163	critical splice acceptor site	probably null
R3980:Dab2	UTSW	15	6435163	critical splice acceptor site	probably null
R4551:Dab2	UTSW	15	6435294	missense	probably damaging	0.97
R4829:Dab2	UTSW	15	6424681	missense	probably damaging	1.00
R4830:Dab2	UTSW	15	6427527	missense	probably benign
R4832:Dab2	UTSW	15	6336599	splice site	probably null
R5168:Dab2	UTSW	15	6336443	intron	probably benign
R5620:Dab2	UTSW	15	6418315	missense	probably damaging	0.98
R5996:Dab2	UTSW	15	6435311	nonsense	probably null
R6159:Dab2	UTSW	15	6436460	missense	possibly damaging	0.93
R6998:Dab2	UTSW	15	6424649	missense	possibly damaging	0.49
R7002:Dab2	UTSW	15	6435365	missense	probably benign	0.01
R7040:Dab2	UTSW	15	6422251	missense	probably damaging	1.00
R7138:Dab2	UTSW	15	6429299	missense	probably benign	0.24
R7448:Dab2	UTSW	15	6422266	missense	probably damaging	1.00
R7548:Dab2	UTSW	15	6429918	missense	possibly damaging	0.80
R8062:Dab2	UTSW	15	6427341	missense	probably damaging	0.99
R8124:Dab2	UTSW	15	6429397	nonsense	probably null
R8164:Dab2	UTSW	15	6430968	missense	possibly damaging	0.92
R8171:Dab2	UTSW	15	6423926	missense	probably benign	0.00
R8230:Dab2	UTSW	15	6422343	missense	probably damaging	1.00
R8372:Dab2	UTSW	15	6416925	missense	possibly damaging	0.80
R8427:Dab2	UTSW	15	6429359	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGAGAACGCCTTTTCTGC -3'
(R):5'- GTACCGATAGTCCTTTGGGAG -3'

Sequencing Primer
(F):5'- GAGAACGCCTTTTCTGCCAATC -3'
(R):5'- CCCACAAAAGGGTTCGGG -3'

Posted On

2016-02-04