Incidental Mutation 'R7091:Apbb2'
| ID |
550206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apbb2
|
| Ensembl Gene |
ENSMUSG00000029207 |
| Gene Name |
amyloid beta (A4) precursor protein-binding, family B, member 2 |
| Synonyms |
TR2L, Rirl1, Zfra, 2310007D03Rik, FE65L1 |
| MMRRC Submission |
045185-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7091 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
66298703-66618784 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66313334 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 520
(L520H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087256]
[ENSMUST00000159512]
[ENSMUST00000159786]
[ENSMUST00000160063]
[ENSMUST00000160870]
[ENSMUST00000162349]
[ENSMUST00000162366]
|
| AlphaFold |
Q9DBR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087256
AA Change: L543H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084511
Gene: ENSMUSG00000029207
AA Change: L543H
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
291 |
322 |
1.06e-7 |
SMART |
|
PTB
|
414 |
560 |
3.15e-38 |
SMART |
|
PTB
|
587 |
717 |
2.5e-41 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159512
AA Change: L521H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124807
Gene: ENSMUSG00000029207
AA Change: L521H
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
292 |
323 |
1.06e-7 |
SMART |
|
PTB
|
394 |
538 |
2.87e-41 |
SMART |
|
PTB
|
565 |
695 |
2.5e-41 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159786
AA Change: L520H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125211
Gene: ENSMUSG00000029207
AA Change: L520H
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
291 |
322 |
1.06e-7 |
SMART |
|
PTB
|
414 |
560 |
4.29e-40 |
SMART |
|
PTB
|
587 |
717 |
2.5e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160063
|
| SMART Domains |
Protein: ENSMUSP00000123778
Gene: ENSMUSG00000029207
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
292 |
323 |
6.1e-10 |
SMART |
|
PTB
|
415 |
510 |
1.3e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160870
AA Change: L541H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123978
Gene: ENSMUSG00000029207
AA Change: L541H
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
291 |
322 |
1.06e-7 |
SMART |
|
PTB
|
393 |
537 |
2.87e-41 |
SMART |
|
PTB
|
564 |
694 |
2.5e-41 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162349
AA Change: L543H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123752
Gene: ENSMUSG00000029207
AA Change: L543H
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
291 |
322 |
1.06e-7 |
SMART |
|
PTB
|
414 |
558 |
2.87e-41 |
SMART |
|
PTB
|
585 |
715 |
2.5e-41 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162366
AA Change: L520H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125116
Gene: ENSMUSG00000029207
AA Change: L520H
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
291 |
322 |
1.06e-7 |
SMART |
|
PTB
|
393 |
537 |
2.87e-41 |
SMART |
|
PTB
|
563 |
693 |
2.5e-41 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display normal brain morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
A |
C |
3: 40,916,738 (GRCm38) |
I111L |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,058,663 (GRCm38) |
D11G |
probably benign |
Het |
| Ank2 |
G |
T |
3: 127,023,351 (GRCm38) |
Q472K |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,499,692 (GRCm38) |
K205E |
probably benign |
Het |
| Brca1 |
T |
A |
11: 101,526,427 (GRCm38) |
M294L |
probably benign |
Het |
| Capn1 |
A |
G |
19: 5,991,556 (GRCm38) |
M641T |
possibly damaging |
Het |
| Cluap1 |
T |
A |
16: 3,940,806 (GRCm38) |
D377E |
probably benign |
Het |
| Col6a2 |
C |
T |
10: 76,615,091 (GRCm38) |
V39I |
unknown |
Het |
| Crybg3 |
T |
A |
16: 59,557,168 (GRCm38) |
D1241V |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,816,142 (GRCm38) |
K3380R |
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,802,474 (GRCm38) |
I1400M |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,545,101 (GRCm38) |
D219G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,708,676 (GRCm38) |
S1973G |
probably benign |
Het |
| Fsd1 |
G |
A |
17: 55,993,876 (GRCm38) |
R245H |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,496,221 (GRCm38) |
H271Q |
possibly damaging |
Het |
| Glce |
A |
G |
9: 62,060,588 (GRCm38) |
V427A |
probably damaging |
Het |
| Gm5141 |
T |
C |
13: 62,773,964 (GRCm38) |
T464A |
possibly damaging |
Het |
| Gulp1 |
T |
A |
1: 44,766,134 (GRCm38) |
F128I |
probably damaging |
Het |
| H2-Bl |
T |
C |
17: 36,083,941 (GRCm38) |
E30G |
possibly damaging |
Het |
| Hcrtr1 |
A |
C |
4: 130,130,914 (GRCm38) |
L393W |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,726,720 (GRCm38) |
S650P |
probably benign |
Het |
| Hspa4l |
T |
A |
3: 40,781,592 (GRCm38) |
N569K |
probably benign |
Het |
| Ifi206 |
A |
G |
1: 173,473,875 (GRCm38) |
F746L |
unknown |
Het |
| Ivl |
T |
C |
3: 92,572,242 (GRCm38) |
D172G |
possibly damaging |
Het |
| Lrp5 |
A |
T |
19: 3,630,184 (GRCm38) |
D433E |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,768,276 (GRCm38) |
S1826P |
possibly damaging |
Het |
| Ms4a18 |
A |
T |
19: 11,008,728 (GRCm38) |
L206M |
probably damaging |
Het |
| Msln |
A |
T |
17: 25,750,080 (GRCm38) |
C444S |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,136,402 (GRCm38) |
D644G |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,809,687 (GRCm38) |
|
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,458,756 (GRCm38) |
|
probably null |
Het |
| Nadk |
A |
G |
4: 155,587,758 (GRCm38) |
H302R |
probably benign |
Het |
| Neb |
T |
A |
2: 52,256,112 (GRCm38) |
N15I |
|
Het |
| Nup153 |
A |
T |
13: 46,683,928 (GRCm38) |
S1273T |
probably benign |
Het |
| Ofcc1 |
A |
G |
13: 40,072,767 (GRCm38) |
I763T |
probably damaging |
Het |
| Or4b13 |
T |
C |
2: 90,252,463 (GRCm38) |
Y175C |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,284,661 (GRCm38) |
I107V |
probably benign |
Het |
| Prmt5 |
A |
G |
14: 54,511,342 (GRCm38) |
|
probably null |
Het |
| Ptk2 |
G |
A |
15: 73,221,809 (GRCm38) |
P854S |
possibly damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,812,716 (GRCm38) |
S79P |
probably damaging |
Het |
| Reln |
T |
C |
5: 21,899,029 (GRCm38) |
I3315V |
probably null |
Het |
| Rnf223 |
T |
C |
4: 156,132,699 (GRCm38) |
V177A |
probably benign |
Het |
| Slc20a1 |
C |
T |
2: 129,208,272 (GRCm38) |
T450M |
possibly damaging |
Het |
| Smg5 |
C |
T |
3: 88,351,347 (GRCm38) |
P542S |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 42,002,634 (GRCm38) |
Q1333L |
probably benign |
Het |
| Spag5 |
T |
A |
11: 78,313,191 (GRCm38) |
|
probably null |
Het |
| Spopfm1 |
T |
C |
3: 94,266,638 (GRCm38) |
F314L |
probably damaging |
Het |
| Tdp2 |
T |
A |
13: 24,838,224 (GRCm38) |
F209I |
probably damaging |
Het |
| Tgm4 |
C |
A |
9: 123,040,460 (GRCm38) |
L35M |
probably damaging |
Het |
| Tma7 |
A |
G |
9: 109,082,512 (GRCm38) |
|
probably benign |
Het |
| Tmprss4 |
A |
T |
9: 45,184,273 (GRCm38) |
V91D |
probably damaging |
Het |
| Tnfsf4 |
T |
A |
1: 161,395,697 (GRCm38) |
M39K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,713,568 (GRCm38) |
T33025S |
probably benign |
Het |
| Tut1 |
A |
G |
19: 8,965,811 (GRCm38) |
H754R |
probably benign |
Het |
| Vmn2r27 |
T |
G |
6: 124,223,945 (GRCm38) |
Q351P |
possibly damaging |
Het |
| Wee2 |
G |
T |
6: 40,462,002 (GRCm38) |
G353V |
probably benign |
Het |
| Zfp747l1 |
C |
A |
7: 127,384,362 (GRCm38) |
A523S |
possibly damaging |
Het |
| Zfp879 |
T |
A |
11: 50,833,395 (GRCm38) |
H278L |
probably damaging |
Het |
|
| Other mutations in Apbb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Apbb2
|
APN |
5 |
66,451,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01615:Apbb2
|
APN |
5 |
66,307,701 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01945:Apbb2
|
APN |
5 |
66,400,251 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03108:Apbb2
|
APN |
5 |
66,400,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03324:Apbb2
|
APN |
5 |
66,312,157 (GRCm38) |
critical splice donor site |
probably null |
|
|
bund
|
UTSW |
5 |
66,400,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Dionysis
|
UTSW |
5 |
66,452,250 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0266:Apbb2
|
UTSW |
5 |
66,302,611 (GRCm38) |
missense |
probably benign |
0.32 |
|
R0309:Apbb2
|
UTSW |
5 |
66,310,988 (GRCm38) |
splice site |
probably benign |
|
|
R0410:Apbb2
|
UTSW |
5 |
66,451,806 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0564:Apbb2
|
UTSW |
5 |
66,452,250 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0882:Apbb2
|
UTSW |
5 |
66,400,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1075:Apbb2
|
UTSW |
5 |
66,302,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1822:Apbb2
|
UTSW |
5 |
66,400,177 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1929:Apbb2
|
UTSW |
5 |
66,307,615 (GRCm38) |
missense |
probably benign |
0.33 |
|
R4157:Apbb2
|
UTSW |
5 |
66,302,604 (GRCm38) |
nonsense |
probably null |
|
|
R4299:Apbb2
|
UTSW |
5 |
66,313,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4627:Apbb2
|
UTSW |
5 |
66,400,076 (GRCm38) |
splice site |
probably null |
|
|
R4780:Apbb2
|
UTSW |
5 |
66,362,817 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4940:Apbb2
|
UTSW |
5 |
66,452,261 (GRCm38) |
missense |
probably null |
|
|
R5002:Apbb2
|
UTSW |
5 |
66,313,325 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5102:Apbb2
|
UTSW |
5 |
66,312,249 (GRCm38) |
splice site |
probably null |
|
|
R5760:Apbb2
|
UTSW |
5 |
66,362,757 (GRCm38) |
missense |
probably benign |
|
|
R5868:Apbb2
|
UTSW |
5 |
66,452,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6272:Apbb2
|
UTSW |
5 |
66,311,072 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6280:Apbb2
|
UTSW |
5 |
66,364,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6399:Apbb2
|
UTSW |
5 |
66,451,467 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7204:Apbb2
|
UTSW |
5 |
66,451,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7984:Apbb2
|
UTSW |
5 |
66,307,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8026:Apbb2
|
UTSW |
5 |
66,451,644 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8201:Apbb2
|
UTSW |
5 |
66,309,115 (GRCm38) |
missense |
probably benign |
|
|
R8309:Apbb2
|
UTSW |
5 |
66,362,836 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8773:Apbb2
|
UTSW |
5 |
66,451,909 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8876:Apbb2
|
UTSW |
5 |
66,451,657 (GRCm38) |
missense |
probably benign |
|
|
R8988:Apbb2
|
UTSW |
5 |
66,452,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9076:Apbb2
|
UTSW |
5 |
66,312,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9105:Apbb2
|
UTSW |
5 |
66,302,672 (GRCm38) |
nonsense |
probably null |
|
|
R9109:Apbb2
|
UTSW |
5 |
66,451,675 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9298:Apbb2
|
UTSW |
5 |
66,451,675 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9300:Apbb2
|
UTSW |
5 |
66,313,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9690:Apbb2
|
UTSW |
5 |
66,452,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0020:Apbb2
|
UTSW |
5 |
66,391,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Apbb2
|
UTSW |
5 |
66,302,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCGCCCTGGACTTAAAAG -3'
(R):5'- TCACCACTGACATATTGGCTTTG -3'
Sequencing Primer
(F):5'- GGACCACTACACATTAATGACTTGGG -3'
(R):5'- CACTGACATATTGGCTTTGAGCTCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation