Mutagenetix > Incidental Mutation

Incidental Mutation 'R7537:Appl2'

583667

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

045609-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7537 (G1)

Quality Score

148.008

Status

Validated

Chromosome

Chromosomal Location

83435897-83484602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83453292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 208 (I208T)

Ref Sequence

ENSEMBL: ENSMUSP00000020500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020500] [ENSMUST00000146876] [ENSMUST00000150685]

AlphaFold

Q8K3G9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020500
AA Change: I208T

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020500
Gene: ENSMUSG00000020263
AA Change: I208T

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

possibly damaging
Transcript: ENSMUST00000146876
AA Change: I207T

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121336
Gene: ENSMUSG00000020263
AA Change: I207T

Domain	Start	End	E-Value	Type
PDB:4H8S\|D	2	209	1e-141	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000150685

SMART Domains

Protein: ENSMUSP00000115903
Gene: ENSMUSG00000020263

Domain	Start	End	E-Value	Type
PDB:4H8S\|D	2	95	4e-59	PDB

Meta Mutation Damage Score

0.5985

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,967,637 (GRCm39)	L2229P	possibly damaging	Het
Acaca	T	A	11: 84,151,460 (GRCm39)	M786K	probably damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adap1	T	G	5: 139,278,928 (GRCm39)	E117D	possibly damaging	Het
Ap5z1	T	C	5: 142,463,053 (GRCm39)	S746P	probably benign	Het
Astn1	A	G	1: 158,332,956 (GRCm39)	E346G	possibly damaging	Het
Astn1	G	A	1: 158,495,208 (GRCm39)		probably null	Het
Atp23	T	A	10: 126,704,594 (GRCm39)	I180L	unknown	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cdh23	A	T	10: 60,220,724 (GRCm39)	I1340N	probably benign	Het
Cdh8	G	A	8: 99,825,517 (GRCm39)	Q493*	probably null	Het
Ces1g	T	C	8: 94,046,455 (GRCm39)	I357V	probably benign	Het
Ddx46	A	G	13: 55,798,291 (GRCm39)	D226G	probably damaging	Het
Eea1	C	T	10: 95,830,767 (GRCm39)	Q143*	probably null	Het
Erlin2	G	T	8: 27,521,800 (GRCm39)		probably null	Het
Fat3	T	A	9: 15,849,615 (GRCm39)	D3929V	probably damaging	Het
Flt3	T	C	5: 147,271,247 (GRCm39)	D898G	probably damaging	Het
Gm16519	A	G	17: 71,236,351 (GRCm39)	N100S	probably benign	Het
Gnl1	A	G	17: 36,299,428 (GRCm39)	H533R	probably damaging	Het
Gphn	A	G	12: 78,551,454 (GRCm39)	T301A	possibly damaging	Het
Herc2	C	T	7: 55,869,527 (GRCm39)	R4295*	probably null	Het
Insm2	T	C	12: 55,646,303 (GRCm39)	S16P	possibly damaging	Het
Jak2	C	T	19: 29,276,037 (GRCm39)	T778I	probably benign	Het
Lrriq3	A	G	3: 154,806,734 (GRCm39)	T128A	probably damaging	Het
Lst1	A	G	17: 35,405,920 (GRCm39)		probably null	Het
Magi1	G	T	6: 93,685,091 (GRCm39)	Y762*	probably null	Het
Man2b1	T	A	8: 85,817,594 (GRCm39)	C358*	probably null	Het
Mga	T	C	2: 119,766,032 (GRCm39)	V1432A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Morc2a	C	T	11: 3,633,566 (GRCm39)	Q587*	probably null	Het
Mrc2	T	C	11: 105,183,623 (GRCm39)	I4T	probably benign	Het
Muc16	C	A	9: 18,549,431 (GRCm39)	V5621F	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Myo3b	A	G	2: 70,047,513 (GRCm39)	R340G	probably benign	Het
Nipal3	T	C	4: 135,218,248 (GRCm39)	Y34C	probably damaging	Het
Nktr	T	A	9: 121,578,345 (GRCm39)	D804E	unknown	Het
Nlrp4b	A	G	7: 10,448,816 (GRCm39)	M340V	probably benign	Het
Or1e26	T	A	11: 73,480,094 (GRCm39)	T157S	probably benign	Het
Or2ag2b	G	A	7: 106,417,581 (GRCm39)	C97Y	probably damaging	Het
Or56a41	A	T	7: 104,741,978 (GRCm39)	M16K	probably benign	Het
Or5al5	A	G	2: 85,961,608 (GRCm39)	V133A	probably benign	Het
Pard3	T	A	8: 128,337,063 (GRCm39)	N1271K	probably damaging	Het
Pcdhb11	A	T	18: 37,554,672 (GRCm39)	M1L	possibly damaging	Het
Pclo	T	C	5: 14,732,118 (GRCm39)	V3540A	unknown	Het
Pemt	A	G	11: 59,867,670 (GRCm39)	F154S	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rnpc3	G	T	3: 113,407,481 (GRCm39)	T376K	probably benign	Het
Rpe65	A	G	3: 159,310,246 (GRCm39)	Y143C	probably damaging	Het
Sbk2	T	C	7: 4,966,148 (GRCm39)	E12G	probably benign	Het
Slc2a5	T	C	4: 150,213,526 (GRCm39)	I106T	possibly damaging	Het
Snx13	A	G	12: 35,135,981 (GRCm39)	D92G	probably damaging	Het
Sorl1	C	T	9: 41,891,984 (GRCm39)	V1889I	probably benign	Het
Spag17	A	T	3: 99,846,563 (GRCm39)	N29I	possibly damaging	Het
Speg	T	C	1: 75,378,108 (GRCm39)	V878A	probably damaging	Het
Timp4	A	G	6: 115,227,421 (GRCm39)	S53P	probably damaging	Het
Tssk1	G	T	16: 17,712,948 (GRCm39)	E244D	probably benign	Het
Usp29	A	C	7: 6,964,219 (GRCm39)	T21P	possibly damaging	Het
Vmn2r85	A	T	10: 130,258,735 (GRCm39)	V440E	probably benign	Het
Wdr59	T	C	8: 112,217,001 (GRCm39)	D270G		Het
Zbbx	G	A	3: 74,992,826 (GRCm39)	P223S	probably damaging	Het
Zfp936	T	A	7: 42,839,239 (GRCm39)	C235*	probably null	Het
Zranb3	A	T	1: 127,960,584 (GRCm39)		probably null	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
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
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'- CAAGTTTTCATGTTGGGAGAGCC -3'
(R):5'- ACTTGGGCCTTCTCAACCAG -3'

Sequencing Primer
(F):5'- GCTCTGTTGACCTCTGAAGACAG -3'
(R):5'- GGCCTTCTCAACCAGTGTGC -3'

Posted On

2019-10-17