Incidental Mutation 'R6023:Appl2'
| ID |
479047 |
| 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 |
044195-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6023 (G1)
|
| Quality Score |
146.008 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
83435897-83484602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83484393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 18
(Q18R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020500]
[ENSMUST00000146876]
[ENSMUST00000146876]
[ENSMUST00000150685]
[ENSMUST00000176294]
[ENSMUST00000176294]
|
| AlphaFold |
Q8K3G9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020500
AA Change: Q18R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020500
Gene: ENSMUSG00000020263
AA Change: Q18R
| 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 null
Transcript: ENSMUST00000146876
AA Change: Q18R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000121336
Gene: ENSMUSG00000020263
AA Change: Q18R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4H8S|D
|
2 |
209 |
1e-141 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146876
AA Change: Q18R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000121336
Gene: ENSMUSG00000020263
AA Change: Q18R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4H8S|D
|
2 |
209 |
1e-141 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147582
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150685
AA Change: Q18R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000115903
Gene: ENSMUSG00000020263
AA Change: Q18R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4H8S|D
|
2 |
95 |
4e-59 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176294
AA Change: Q18R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000135645
Gene: ENSMUSG00000020263
AA Change: Q18R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4H8S|D
|
2 |
95 |
1e-53 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176294
AA Change: Q18R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000135645
Gene: ENSMUSG00000020263
AA Change: Q18R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4H8S|D
|
2 |
95 |
1e-53 |
PDB |
|
| Meta Mutation Damage Score |
0.1563 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,757,843 (GRCm39) |
N1302S |
possibly damaging |
Het |
| Aff3 |
A |
T |
1: 38,257,451 (GRCm39) |
S424T |
probably damaging |
Het |
| Ap2b1 |
C |
T |
11: 83,226,224 (GRCm39) |
T207M |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,862,900 (GRCm39) |
F1327L |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,961,372 (GRCm39) |
I47F |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,301,321 (GRCm39) |
I451N |
probably damaging |
Het |
| Clec3a |
A |
G |
8: 115,144,883 (GRCm39) |
T20A |
possibly damaging |
Het |
| Cpz |
T |
A |
5: 35,669,922 (GRCm39) |
I252F |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,913,433 (GRCm39) |
D143G |
probably benign |
Het |
| Dhrs1 |
A |
T |
14: 55,981,127 (GRCm39) |
Y94* |
probably null |
Het |
| Dnajc25 |
A |
G |
4: 59,013,752 (GRCm39) |
K157E |
possibly damaging |
Het |
| Dpp6 |
T |
C |
5: 27,928,545 (GRCm39) |
I789T |
probably damaging |
Het |
| Duox1 |
T |
G |
2: 122,168,165 (GRCm39) |
F1097V |
probably benign |
Het |
| Ercc8 |
A |
G |
13: 108,315,111 (GRCm39) |
T242A |
probably damaging |
Het |
| Evc2 |
T |
A |
5: 37,505,960 (GRCm39) |
M93K |
probably benign |
Het |
| Glra1 |
A |
T |
11: 55,424,679 (GRCm39) |
V94E |
probably damaging |
Het |
| Got1l1 |
A |
T |
8: 27,689,932 (GRCm39) |
Y151* |
probably null |
Het |
| Hcrtr2 |
T |
A |
9: 76,137,886 (GRCm39) |
I410F |
probably benign |
Het |
| Ighv1-72 |
T |
A |
12: 115,721,532 (GRCm39) |
|
probably benign |
Het |
| Kel |
C |
A |
6: 41,674,409 (GRCm39) |
E340D |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,379,158 (GRCm39) |
E283G |
probably damaging |
Het |
| Klk4 |
T |
G |
7: 43,533,482 (GRCm39) |
F114V |
probably benign |
Het |
| Krt7 |
T |
C |
15: 101,310,278 (GRCm39) |
|
probably benign |
Het |
| Lrrc74a |
A |
G |
12: 86,805,380 (GRCm39) |
I401V |
probably damaging |
Het |
| Luzp2 |
T |
C |
7: 54,707,815 (GRCm39) |
S68P |
possibly damaging |
Het |
| Naip1 |
T |
C |
13: 100,562,694 (GRCm39) |
T824A |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,659,376 (GRCm39) |
Q747R |
possibly damaging |
Het |
| Or13p4 |
T |
A |
4: 118,547,271 (GRCm39) |
Y126F |
probably damaging |
Het |
| Or1j11 |
A |
G |
2: 36,311,523 (GRCm39) |
T38A |
probably damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,059 (GRCm39) |
D83G |
possibly damaging |
Het |
| Or51f1 |
T |
C |
7: 102,506,169 (GRCm39) |
I107V |
possibly damaging |
Het |
| Or52h2 |
T |
C |
7: 103,838,880 (GRCm39) |
H178R |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,067 (GRCm39) |
D120G |
probably damaging |
Het |
| Or7g22 |
A |
C |
9: 19,049,021 (GRCm39) |
H244P |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,978 (GRCm39) |
I436T |
possibly damaging |
Het |
| Pfdn2 |
T |
C |
1: 171,184,319 (GRCm39) |
Y65H |
probably damaging |
Het |
| Polr2h |
T |
C |
16: 20,537,776 (GRCm39) |
Y58H |
probably benign |
Het |
| Prrt4 |
G |
A |
6: 29,176,452 (GRCm39) |
P291L |
probably benign |
Het |
| Psg29 |
G |
T |
7: 16,944,437 (GRCm39) |
V316L |
possibly damaging |
Het |
| Rnf112 |
T |
A |
11: 61,340,555 (GRCm39) |
E525V |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,101,773 (GRCm39) |
K411R |
probably benign |
Het |
| Sh3tc1 |
T |
A |
5: 35,864,295 (GRCm39) |
K631* |
probably null |
Het |
| Syne1 |
T |
C |
10: 5,393,223 (GRCm39) |
M48V |
probably benign |
Het |
| Thrb |
C |
T |
14: 18,011,209 (GRCm38) |
T226I |
probably damaging |
Het |
| Trim67 |
A |
T |
8: 125,541,843 (GRCm39) |
D347V |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,280,355 (GRCm39) |
S60P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,565,744 (GRCm39) |
L19876I |
probably damaging |
Het |
| Vars1 |
C |
T |
17: 35,220,585 (GRCm39) |
R56C |
probably damaging |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,239 (GRCm39) |
I105V |
probably benign |
Het |
| Vps8 |
C |
A |
16: 21,279,988 (GRCm39) |
T313K |
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 |
|
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'- TAGTACCAGCAGCGTCTGTG -3'
(R):5'- TGTCCCGGACTGTCTACATGTC -3'
Sequencing Primer
(F):5'- CAGCAGCGTCTGTGTGGATAG -3'
(R):5'- ACTGTCTACATGTCCGGCG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation