Mutagenetix > Incidental Mutation

Incidental Mutation 'R7403:Appl2'

574354

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

045485-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83435897-83484602 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83450059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 271 (A271V)

Ref Sequence

ENSEMBL: ENSMUSP00000020500 (fasta)

Gene Model

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

AlphaFold

Q8K3G9

Predicted Effect

probably benign
Transcript: ENSMUST00000020500
AA Change: A271V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020500
Gene: ENSMUSG00000020263
AA Change: A271V

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

probably benign
Transcript: ENSMUST00000146876

SMART Domains

Protein: ENSMUSP00000121336
Gene: ENSMUSG00000020263

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brpf3	C	T	17: 29,040,330 (GRCm39)	T917I	probably benign	Het
Camta1	G	A	4: 151,537,752 (GRCm39)	Q143*	probably null	Het
Cd3e	C	A	9: 44,913,590 (GRCm39)	E48D	probably benign	Het
Clca3b	A	G	3: 144,529,259 (GRCm39)	L805P	probably benign	Het
Crispld1	A	G	1: 17,817,820 (GRCm39)	Y241C	probably damaging	Het
Ddx43	T	G	9: 78,321,133 (GRCm39)	N380K	probably damaging	Het
Dtl	A	T	1: 191,295,285 (GRCm39)	V155E	probably damaging	Het
Eif1ad19	G	T	12: 87,740,314 (GRCm39)	Q82K	probably benign	Het
Elp1	A	T	4: 56,778,994 (GRCm39)	C608S	probably damaging	Het
Elp2	A	G	18: 24,752,542 (GRCm39)	H365R	probably damaging	Het
Fam78a	T	C	2: 31,959,627 (GRCm39)	N161S	probably damaging	Het
Far2	T	C	6: 148,060,475 (GRCm39)	I276T	possibly damaging	Het
Frem3	T	C	8: 81,342,774 (GRCm39)	L1689P	probably damaging	Het
Gak	T	C	5: 108,761,401 (GRCm39)	K210R	probably benign	Het
Gna14	G	T	19: 16,576,445 (GRCm39)	D151Y		Het
Hdhd2	A	G	18: 77,042,736 (GRCm39)	D55G	probably benign	Het
Hycc2	A	T	1: 58,587,861 (GRCm39)	D117E	possibly damaging	Het
Ifna5	A	G	4: 88,754,110 (GRCm39)	N117D	probably benign	Het
Il16	T	A	7: 83,319,343 (GRCm39)	T383S	probably damaging	Het
Il36rn	T	C	2: 24,171,214 (GRCm39)	F101L	probably damaging	Het
Ino80d	A	G	1: 63,101,378 (GRCm39)	V416A	possibly damaging	Het
Ints6	T	C	14: 62,945,104 (GRCm39)	R409G	possibly damaging	Het
Itgb5	G	T	16: 33,723,163 (GRCm39)		probably null	Het
Itprid1	T	A	6: 55,953,399 (GRCm39)	L905*	probably null	Het
Kcnq3	T	A	15: 65,874,066 (GRCm39)	R561W	probably damaging	Het
Lipo4	C	T	19: 33,480,679 (GRCm39)	E230K	possibly damaging	Het
Lrrc7	A	T	3: 157,854,311 (GRCm39)	L1299*	probably null	Het
Mcm3ap	T	C	10: 76,318,657 (GRCm39)		probably null	Het
Mok	A	T	12: 110,781,563 (GRCm39)		probably null	Het
Mylk2	T	A	2: 152,759,261 (GRCm39)	V344E	probably damaging	Het
Oacyl	T	C	18: 65,870,966 (GRCm39)	V389A	probably benign	Het
Oplah	T	C	15: 76,189,209 (GRCm39)	D278G	probably benign	Het
Or1j8	T	C	2: 36,192,342 (GRCm39)	F264L	probably benign	Het
Or8s5	T	C	15: 98,238,000 (GRCm39)	Y290C	probably damaging	Het
Padi3	T	C	4: 140,527,430 (GRCm39)	N124D	probably benign	Het
Parp3	T	C	9: 106,352,052 (GRCm39)	S107G	probably benign	Het
Pcdhb18	G	A	18: 37,624,950 (GRCm39)	G760D	probably benign	Het
Plekhh1	G	A	12: 79,087,351 (GRCm39)	W13*	probably null	Het
Poglut3	T	A	9: 53,301,741 (GRCm39)	V131E	probably damaging	Het
Pou2f1	C	T	1: 165,738,955 (GRCm39)	A166T	unknown	Het
Ppp1r10	C	T	17: 36,240,326 (GRCm39)	P539S	probably benign	Het
Prdm11	T	C	2: 92,817,036 (GRCm39)	T310A	probably benign	Het
Rbm25	A	G	12: 83,722,908 (GRCm39)	Y777C	probably damaging	Het
Relt	A	T	7: 100,500,655 (GRCm39)	C72S	probably damaging	Het
Rhag	T	A	17: 41,145,549 (GRCm39)	I334N	probably damaging	Het
Rhbdf2	A	C	11: 116,491,245 (GRCm39)	L630R	probably damaging	Het
Rnps1	T	C	17: 24,644,061 (GRCm39)	S274P	unknown	Het
Rtkn2	A	G	10: 67,841,466 (GRCm39)	I205V	probably benign	Het
Ryr1	A	T	7: 28,713,292 (GRCm39)	V4690E	probably benign	Het
Secisbp2l	T	C	2: 125,602,199 (GRCm39)	Y387C	possibly damaging	Het
Sema3d	A	T	5: 12,547,551 (GRCm39)	I158F	probably damaging	Het
Slc17a1	A	G	13: 24,058,690 (GRCm39)	N48S	probably benign	Het
Slc2a1	G	A	4: 118,989,752 (GRCm39)	G130S	probably damaging	Het
Slc6a3	T	C	13: 73,710,546 (GRCm39)		probably null	Het
Snx27	A	T	3: 94,436,233 (GRCm39)	S261T	probably damaging	Het
Spag17	A	T	3: 99,846,691 (GRCm39)	I72F	possibly damaging	Het
Spink6	T	G	18: 44,204,564 (GRCm39)	L10R	unknown	Het
Swt1	G	A	1: 151,264,444 (GRCm39)	T690I	probably benign	Het
Syne2	G	A	12: 75,962,020 (GRCm39)	E729K	not run	Het
Synj2	C	T	17: 6,088,005 (GRCm39)	T1352M	possibly damaging	Het
Taar4	G	A	10: 23,836,957 (GRCm39)	G189D	probably damaging	Het
Thsd4	T	C	9: 59,964,170 (GRCm39)	N441D	probably damaging	Het
Tm9sf2	A	G	14: 122,378,640 (GRCm39)	D248G	probably benign	Het
Tmem69	A	T	4: 116,410,664 (GRCm39)	L102Q	probably damaging	Het
Tshr	A	G	12: 91,464,548 (GRCm39)	Y98C	probably damaging	Het
Tspan1	A	G	4: 116,020,219 (GRCm39)	V230A	probably benign	Het
Upk3a	T	C	15: 84,903,709 (GRCm39)	V136A	possibly damaging	Het
Ush2a	T	A	1: 188,365,924 (GRCm39)	N2259K	probably damaging	Het
Usp24	A	G	4: 106,264,232 (GRCm39)	D1721G	possibly damaging	Het
Vldlr	T	A	19: 27,213,674 (GRCm39)	C120*	probably null	Het
Vmn2r23	A	T	6: 123,681,538 (GRCm39)	I149L	probably benign	Het
Vps8	A	T	16: 21,253,722 (GRCm39)	E21V	possibly damaging	Het
Wdr35	A	G	12: 9,062,685 (GRCm39)	I635V	probably damaging	Het
Zfp955a	T	C	17: 33,462,720 (GRCm39)	D58G	probably benign	Het
Zkscan5	A	G	5: 145,155,403 (GRCm39)	Q358R	probably benign	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
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'- AAGCTTCCCAAATCAGGCAGG -3'
(R):5'- GGCTCCGTCTGTCATATAGGATG -3'

Sequencing Primer
(F):5'- TTCCCAAATCAGGCAGGAGTGG -3'
(R):5'- CCGTCTGTCATATAGGATGCTTCG -3'

Posted On

2019-09-13