Mutagenetix > Incidental Mutations

Incidental Mutation 'R7040:Dab2'

547017

Institutional Source

Beutler Lab

Gene Symbol

Dab2

Ensembl Gene

ENSMUSG00000022150

Gene Name

disabled 2, mitogen-responsive phosphoprotein

Synonyms

5730435J12Rik, p96, D630005B22Rik, D15Wsu122e

MMRRC Submission

Accession Numbers

Genbank: NM_023118, NM_001008702, MGI: 109175

Is this an essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6299788-6440712 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 6422251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 116 (H116P)

Ref Sequence

ENSEMBL: ENSMUSP00000124589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078019] [ENSMUST00000080880] [ENSMUST00000110663] [ENSMUST00000110664] [ENSMUST00000159490] [ENSMUST00000160134] [ENSMUST00000161040] [ENSMUST00000161812] [ENSMUST00000162094]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078019
AA Change: H116P

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077166
Gene: ENSMUSG00000022150
AA Change: H116P

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: ENSMUST00000080880
AA Change: H116P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150
AA Change: H116P

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

possibly damaging
Transcript: ENSMUST00000110663
AA Change: H116P

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106291
Gene: ENSMUSG00000022150
AA Change: H116P

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: H116P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106292
Gene: ENSMUSG00000022150
AA Change: H116P

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

probably benign
Transcript: ENSMUST00000159490

SMART Domains

Protein: ENSMUSP00000124145
Gene: ENSMUSG00000022150

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PDB:1P3R\|C	35	60	4e-11	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000160134
AA Change: H116P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125021
Gene: ENSMUSG00000022150
AA Change: H116P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161040
AA Change: H116P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124478
Gene: ENSMUSG00000022150
AA Change: H116P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161812
AA Change: H116P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124589
Gene: ENSMUSG00000022150
AA Change: H116P

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

probably benign
Transcript: ENSMUST00000162094

SMART Domains

Protein: ENSMUSP00000125696
Gene: ENSMUSG00000022150

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
Pfam:PID	50	110	2.8e-9	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000124996
Gene: ENSMUSG00000022150
AA Change: H4P

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	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
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
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
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
R8919:Dab2	UTSW	15	6435790	missense
R9363:Dab2	UTSW	15	6431000	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AAATCTAGATGTAGCCTTGAACCC -3'
(R):5'- TGGCCTAATGAAATGTTTCCAGTAC -3'

Sequencing Primer
(F):5'- TTAAACTCACCGGGCATTGG -3'
(R):5'- AGTTTGAAGCCTGCCAAGTC -3'

Posted On

2019-05-13