Mutagenetix > Incidental Mutation

Incidental Mutation 'R0006:Appl2'

43655

Institutional Source

Beutler Lab

Gene Symbol

Appl2

Ensembl Gene

ENSMUSG00000020263

Gene Name

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2

Synonyms

Dip3b

MMRRC Submission

041980-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0006 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83435897-83484602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83438762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 556 (F556L)

Ref Sequence

ENSEMBL: ENSMUSP00000020500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020500]

AlphaFold

Q8K3G9

Predicted Effect

probably damaging
Transcript: ENSMUST00000020500
AA Change: F556L

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

SMART Domains

Protein: ENSMUSP00000020500
Gene: ENSMUSG00000020263
AA Change: F556L

Domain	Start	End	E-Value	Type
Pfam:BAR_3	7	248	6.4e-69	PFAM
PH	278	377	1.2e-7	SMART
Pfam:PTB	491	613	6e-7	PFAM
Pfam:PID	492	611	1.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141048

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150351

Predicted Effect

probably benign
Transcript: ENSMUST00000176675

Predicted Effect

unknown
Transcript: ENSMUST00000177187
AA Change: F2L

Meta Mutation Damage Score

0.6291

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.3%

Validation Efficiency

97% (67/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null allele display altered red blood cell physiology. Mutant MEFs exhibit defects in HGF-induced Akt activation, migration, and invasion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,813,935 (GRCm39)		probably benign	Het
Aldh3a1	G	A	11: 61,107,927 (GRCm39)	V324M	probably damaging	Het
Als2cl	T	A	9: 110,723,686 (GRCm39)	L694Q	possibly damaging	Het
Atad2b	T	A	12: 4,992,030 (GRCm39)	S210T	possibly damaging	Het
Aurka	A	G	2: 172,201,673 (GRCm39)		probably null	Het
Boc	C	T	16: 44,316,812 (GRCm39)	V444I	probably benign	Het
Cfap61	G	A	2: 145,919,232 (GRCm39)	V655I	probably benign	Het
Chd8	A	G	14: 52,472,750 (GRCm39)	I351T	possibly damaging	Het
Chid1	T	A	7: 141,076,339 (GRCm39)		probably benign	Het
Cyp3a41a	T	A	5: 145,641,606 (GRCm39)	H288L	probably benign	Het
Dnase2b	T	A	3: 146,288,244 (GRCm39)	I284F	probably damaging	Het
Dock2	A	G	11: 34,262,453 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,267,999 (GRCm39)	T5325I	probably benign	Het
Erbb3	A	G	10: 128,409,279 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,419,695 (GRCm39)	N316S	possibly damaging	Het
Farsa	G	T	8: 85,587,934 (GRCm39)		probably benign	Het
Fibcd1	T	G	2: 31,728,599 (GRCm39)	D86A	probably damaging	Het
Gab1	A	T	8: 81,496,359 (GRCm39)	M617K	possibly damaging	Het
Gabrd	C	A	4: 155,473,058 (GRCm39)	V72L	probably damaging	Het
Ggh	C	A	4: 20,054,155 (GRCm39)	T150K	possibly damaging	Het
Gnb3	G	A	6: 124,812,767 (GRCm39)		probably benign	Het
Hephl1	T	A	9: 14,988,060 (GRCm39)	T683S	probably benign	Het
Hmcn1	G	A	1: 150,684,427 (GRCm39)	P381L	probably damaging	Het
Hspa8	T	G	9: 40,715,925 (GRCm39)	N544K	probably benign	Het
Hspg2	C	T	4: 137,247,242 (GRCm39)	T1155I	probably damaging	Het
Igdcc4	C	T	9: 65,042,382 (GRCm39)		probably benign	Het
Jazf1	A	G	6: 52,871,071 (GRCm39)		probably benign	Het
Kntc1	T	A	5: 123,927,201 (GRCm39)	S1219T	probably benign	Het
L3mbtl1	A	T	2: 162,806,489 (GRCm39)	Y460F	possibly damaging	Het
Lcor	A	G	19: 41,573,338 (GRCm39)	T698A	probably benign	Het
Lyrm7	T	A	11: 54,739,423 (GRCm39)	T76S	probably benign	Het
Map1b	C	T	13: 99,571,810 (GRCm39)	V304M	probably damaging	Het
Mcub	A	C	3: 129,727,414 (GRCm39)		probably benign	Het
Muc13	T	C	16: 33,623,518 (GRCm39)	S271P	probably damaging	Het
Myo16	A	G	8: 10,525,988 (GRCm39)	K843E	probably damaging	Het
Nav2	A	G	7: 49,102,978 (GRCm39)	E531G	possibly damaging	Het
Niban3	A	G	8: 72,057,688 (GRCm39)		probably benign	Het
Nup188	T	C	2: 30,212,035 (GRCm39)	V553A	probably benign	Het
Or1e16	A	G	11: 73,286,314 (GRCm39)	F178S	probably damaging	Het
Or1e1c	A	G	11: 73,266,414 (GRCm39)	M283V	possibly damaging	Het
Or52d1	A	G	7: 103,755,527 (GRCm39)	I14V	probably benign	Het
Or6z1	A	G	7: 6,504,610 (GRCm39)	I205T	possibly damaging	Het
Or8b9	T	A	9: 37,766,516 (GRCm39)	V134D	possibly damaging	Het
P4ha3	C	T	7: 99,968,155 (GRCm39)	R378*	probably null	Het
Rap1gds1	G	T	3: 138,689,632 (GRCm39)		probably null	Het
Rbfox1	T	A	16: 7,148,284 (GRCm39)	S244R	probably benign	Het
Rpp40	G	A	13: 36,080,718 (GRCm39)	P339S	probably damaging	Het
Rsph4a	T	C	10: 33,785,144 (GRCm39)	C148R	probably damaging	Het
Skint5	T	C	4: 113,751,059 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,073,855 (GRCm39)	S1405P	probably damaging	Het
Tex35	T	C	1: 156,927,314 (GRCm39)	K154E	possibly damaging	Het
Thada	T	C	17: 84,533,468 (GRCm39)	N1661S	probably benign	Het
Tle4	A	G	19: 14,444,078 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,901,266 (GRCm39)	S1027P	probably benign	Het
Tpm3	T	A	3: 89,994,968 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,158,960 (GRCm39)	F2438L	probably benign	Het
Uggt2	A	T	14: 119,287,075 (GRCm39)	F640L	probably benign	Het
Vmn1r20	T	G	6: 57,409,290 (GRCm39)	H205Q	probably damaging	Het
Wbp2	T	C	11: 115,970,614 (GRCm39)		probably null	Het
Xirp1	T	C	9: 119,846,520 (GRCm39)	I788V	probably benign	Het
Zc3hav1	A	G	6: 38,296,637 (GRCm39)		probably null	Het
Zfp687	A	G	3: 94,918,767 (GRCm39)	I335T	probably damaging	Het
Zfpm1	A	G	8: 123,061,227 (GRCm39)	Y264C	probably damaging	Het

Other mutations in Appl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01681:Appl2	APN	10	83,450,165 (GRCm39)	missense	possibly damaging	0.95
IGL01794:Appl2	APN	10	83,450,158 (GRCm39)	missense	probably benign
IGL01887:Appl2	APN	10	83,457,386 (GRCm39)	unclassified	probably benign
IGL03071:Appl2	APN	10	83,476,970 (GRCm39)	critical splice acceptor site	probably null
IGL03077:Appl2	APN	10	83,457,623 (GRCm39)	unclassified	probably benign
R0006:Appl2	UTSW	10	83,438,762 (GRCm39)	missense	probably damaging	1.00
R0591:Appl2	UTSW	10	83,460,509 (GRCm39)	missense	possibly damaging	0.94
R1695:Appl2	UTSW	10	83,457,446 (GRCm39)	missense	probably damaging	0.99
R2217:Appl2	UTSW	10	83,444,601 (GRCm39)	missense	possibly damaging	0.47
R2218:Appl2	UTSW	10	83,444,601 (GRCm39)	missense	possibly damaging	0.47
R4782:Appl2	UTSW	10	83,436,855 (GRCm39)	missense	probably damaging	1.00
R4889:Appl2	UTSW	10	83,476,922 (GRCm39)	missense	probably damaging	1.00
R5109:Appl2	UTSW	10	83,436,871 (GRCm39)	missense	probably benign	0.06
R5460:Appl2	UTSW	10	83,438,696 (GRCm39)	missense	probably benign	0.00
R5512:Appl2	UTSW	10	83,441,682 (GRCm39)	missense	probably damaging	1.00
R6023:Appl2	UTSW	10	83,484,393 (GRCm39)	missense	probably null	0.00
R6047:Appl2	UTSW	10	83,448,765 (GRCm39)	critical splice acceptor site	probably null
R7403:Appl2	UTSW	10	83,450,059 (GRCm39)	missense	probably benign	0.00
R7537:Appl2	UTSW	10	83,453,292 (GRCm39)	missense	possibly damaging	0.69
R8488:Appl2	UTSW	10	83,446,866 (GRCm39)	missense	probably benign	0.02
R9203:Appl2	UTSW	10	83,476,879 (GRCm39)	nonsense	probably null
X0027:Appl2	UTSW	10	83,457,418 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGGATGGACAGTGAAAACCCCAG -3'
(R):5'- TGTCAAGGGCCTGTGTAAGTACCTG -3'

Sequencing Primer
(F):5'- GGCCCTTGGAGAATAGCCTTAC -3'
(R):5'- GCCTGTGTAAGTACCTGTTACATC -3'

Posted On

2013-05-29