Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03372:Dab2'

420335

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dab2

Ensembl Gene

ENSMUSG00000022150

Gene Name

disabled 2, mitogen-responsive phosphoprotein

Synonyms

5730435J12Rik, p96, D630005B22Rik, D15Wsu122e

Accession Numbers

Genbank: NM_023118, NM_001008702, MGI: 109175

Is this an essential gene?

Probably essential (E-score: 0.911) question?

Stock #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

6299788-6440712 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6429549 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 293 (L293P)

Ref Sequence

ENSEMBL: ENSMUSP00000106292 (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: L314P

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150
AA Change: L314P

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 damaging
Transcript: ENSMUST00000110664
AA Change: L293P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106292
Gene: ENSMUSG00000022150
AA Change: L293P

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: L181P

SMART Domains

Protein: ENSMUSP00000124996
Gene: ENSMUSG00000022150
AA Change: L181P

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 130,017,569	A1161V	probably benign	Het
Alpi	A	G	1: 87,100,628		probably benign	Het
Asxl1	A	T	2: 153,400,413	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,348,047	I49V	probably benign	Het
Bod1l	T	C	5: 41,805,235		probably benign	Het
Ccl20	A	G	1: 83,117,876	M54V	probably benign	Het
Cep72	A	C	13: 74,043,518	L200V	possibly damaging	Het
Clic4	T	C	4: 135,218,614	D164G	probably damaging	Het
Col5a3	G	A	9: 20,775,328	P1334S	unknown	Het
Ddx50	A	T	10: 62,643,330	S140T	probably benign	Het
Dnah6	A	T	6: 73,075,850	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,902,666	E721G	probably damaging	Het
Esyt3	A	T	9: 99,336,056		probably benign	Het
Fat4	G	T	3: 38,889,134	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,910	I308V	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,733,249		probably benign	Het
Gm10109	A	T	7: 44,221,702		probably benign	Het
Gpd2	G	A	2: 57,355,507	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,535,715		probably benign	Het
Iqca	A	G	1: 90,144,969	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,849,563	L161R	probably damaging	Het
Kif19a	G	T	11: 114,779,218	V80L	probably damaging	Het
Kif21a	A	T	15: 90,956,376	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,873,886		probably benign	Het
Ksr2	T	A	5: 117,702,718	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,971,157		probably benign	Het
Larp1b	A	T	3: 41,024,527	H6L	possibly damaging	Het
Map4k2	T	A	19: 6,342,249		probably benign	Het
Mdh1b	T	C	1: 63,719,995	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,681,813		probably benign	Het
Mvd	A	G	8: 122,443,374		probably benign	Het
Myo7b	C	T	18: 31,998,601	S514N	probably damaging	Het
Nav1	A	T	1: 135,450,903	I1610K	probably damaging	Het
Nbas	T	C	12: 13,534,472	L2095P	probably damaging	Het
Nrros	T	C	16: 32,144,770	N115S	probably damaging	Het
Olfr472	T	C	7: 107,903,370	Y218H	probably damaging	Het
Otud6b	A	C	4: 14,812,519	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,567,492	E150K	probably damaging	Het
Pan2	T	A	10: 128,315,127	L771Q	probably benign	Het
Pbrm1	T	A	14: 31,085,019	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,320,660	R31L	probably benign	Het
Proser3	A	C	7: 30,543,568	S195A	probably damaging	Het
Rad50	T	C	11: 53,695,294	K292E	probably benign	Het
Rbm27	G	A	18: 42,305,716	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314	I649T	probably damaging	Het
Skint3	G	A	4: 112,255,906		probably benign	Het
Slc4a4	T	A	5: 89,156,426	L576Q	probably damaging	Het
Snx2	A	G	18: 53,216,391	D408G	probably damaging	Het
Taar2	T	C	10: 23,941,171	V203A	probably benign	Het
Tdrd6	C	T	17: 43,625,568	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,619,470	L515R	probably damaging	Het
Unc13a	A	T	8: 71,655,709	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,880,569	D76G	probably benign	Het
Whrn	T	C	4: 63,418,618	D127G	probably damaging	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
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
R4795:Dab2	UTSW	15	6429611	missense	probably benign	0.16
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

Posted On

2016-08-02