Incidental Mutation 'R6789:Lrp2bp'
| ID |
532936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp2bp
|
| Ensembl Gene |
ENSMUSG00000031637 |
| Gene Name |
Lrp2 binding protein |
| Synonyms |
4930479L12Rik, MegBP, 1700113N17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R6789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
46463639-46482515 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46466151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 87
(K87E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066451]
[ENSMUST00000110380]
[ENSMUST00000110381]
[ENSMUST00000145597]
|
| AlphaFold |
Q9D4C6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066451
AA Change: K108E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000067177
Gene: ENSMUSG00000031637
AA Change: K108E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
SEL1
|
110 |
145 |
4.45e-3 |
SMART |
|
SEL1
|
153 |
188 |
5.07e-7 |
SMART |
|
SEL1
|
193 |
226 |
6.3e-3 |
SMART |
|
SEL1
|
227 |
262 |
3.9e-8 |
SMART |
|
Blast:SEL1
|
263 |
293 |
1e-5 |
BLAST |
|
SEL1
|
317 |
352 |
7.57e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110380
AA Change: K87E
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106009
Gene: ENSMUSG00000031637
AA Change: K87E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
SEL1
|
89 |
124 |
4.45e-3 |
SMART |
|
SEL1
|
132 |
167 |
5.07e-7 |
SMART |
|
SEL1
|
172 |
205 |
6.3e-3 |
SMART |
|
SEL1
|
206 |
241 |
3.9e-8 |
SMART |
|
Blast:SEL1
|
242 |
272 |
1e-5 |
BLAST |
|
SEL1
|
296 |
331 |
7.57e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110381
AA Change: K87E
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106010
Gene: ENSMUSG00000031637
AA Change: K87E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
SEL1
|
89 |
124 |
4.45e-3 |
SMART |
|
SEL1
|
132 |
167 |
5.07e-7 |
SMART |
|
SEL1
|
172 |
205 |
6.3e-3 |
SMART |
|
SEL1
|
206 |
241 |
3.9e-8 |
SMART |
|
Blast:SEL1
|
242 |
272 |
1e-5 |
BLAST |
|
SEL1
|
296 |
331 |
7.57e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145597
AA Change: K87E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000135210
Gene: ENSMUSG00000031637
AA Change: K87E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
32 |
N/A |
INTRINSIC |
|
SEL1
|
89 |
124 |
4.45e-3 |
SMART |
|
SEL1
|
132 |
167 |
5.07e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
A |
1: 58,343,644 (GRCm39) |
D442E |
probably benign |
Het |
| Arl6ip4 |
G |
A |
5: 124,254,665 (GRCm39) |
G53R |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,675,344 (GRCm39) |
T553A |
probably benign |
Het |
| Atp1a1 |
T |
A |
3: 101,493,614 (GRCm39) |
N497Y |
possibly damaging |
Het |
| Birc2 |
T |
C |
9: 7,836,966 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
C |
A |
17: 56,961,426 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,406,210 (GRCm39) |
Q2341K |
possibly damaging |
Het |
| Dydc2 |
C |
A |
14: 40,771,296 (GRCm39) |
V128L |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,923,284 (GRCm39) |
|
probably null |
Het |
| Efna3 |
C |
T |
3: 89,223,769 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
C |
T |
18: 58,143,686 (GRCm39) |
E2790K |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,579,865 (GRCm39) |
L780* |
probably null |
Het |
| Gm11569 |
C |
A |
11: 99,689,657 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
C |
T |
10: 51,507,412 (GRCm39) |
G39D |
probably damaging |
Het |
| Igkv6-17 |
A |
G |
6: 70,348,692 (GRCm39) |
D21G |
probably benign |
Het |
| Klra4 |
T |
C |
6: 130,039,182 (GRCm39) |
Q70R |
probably damaging |
Het |
| Krtap31-2 |
C |
T |
11: 99,827,549 (GRCm39) |
S127F |
possibly damaging |
Het |
| Lingo4 |
G |
T |
3: 94,306,662 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,266,231 (GRCm39) |
M5333K |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,272,781 (GRCm39) |
Y47F |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,471,282 (GRCm39) |
P7261S |
probably benign |
Het |
| Nostrin |
G |
T |
2: 69,005,856 (GRCm39) |
M212I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,865,677 (GRCm39) |
T8M |
possibly damaging |
Het |
| Nup153 |
A |
T |
13: 46,870,792 (GRCm39) |
L41H |
probably damaging |
Het |
| Or10b1 |
T |
C |
10: 78,355,802 (GRCm39) |
L120P |
noncoding transcript |
Het |
| Or5b97 |
T |
A |
19: 12,878,653 (GRCm39) |
I164L |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,099,278 (GRCm39) |
D599V |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,710,364 (GRCm39) |
T317I |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,434,150 (GRCm39) |
N1406I |
possibly damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,961,419 (GRCm39) |
Y1027N |
probably damaging |
Het |
| Prpf6 |
T |
A |
2: 181,257,844 (GRCm39) |
Y105* |
probably null |
Het |
| Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
| Rnf8 |
T |
A |
17: 29,854,843 (GRCm39) |
W433R |
probably damaging |
Het |
| Slc18b1 |
T |
A |
10: 23,692,227 (GRCm39) |
V232D |
probably benign |
Het |
| Taf11 |
C |
A |
17: 28,126,492 (GRCm39) |
A52S |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,665,555 (GRCm39) |
F26L |
probably benign |
Het |
| Trav9-2 |
T |
C |
14: 53,828,819 (GRCm39) |
L63P |
possibly damaging |
Het |
| Zfat |
T |
C |
15: 67,956,235 (GRCm39) |
Y1199C |
probably damaging |
Het |
|
| Other mutations in Lrp2bp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02152:Lrp2bp
|
APN |
8 |
46,476,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4280001:Lrp2bp
|
UTSW |
8 |
46,476,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0016:Lrp2bp
|
UTSW |
8 |
46,465,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0016:Lrp2bp
|
UTSW |
8 |
46,465,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Lrp2bp
|
UTSW |
8 |
46,466,192 (GRCm39) |
nonsense |
probably null |
|
|
R0046:Lrp2bp
|
UTSW |
8 |
46,466,192 (GRCm39) |
nonsense |
probably null |
|
|
R0514:Lrp2bp
|
UTSW |
8 |
46,464,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0838:Lrp2bp
|
UTSW |
8 |
46,478,161 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1465:Lrp2bp
|
UTSW |
8 |
46,478,272 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1465:Lrp2bp
|
UTSW |
8 |
46,478,272 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1735:Lrp2bp
|
UTSW |
8 |
46,465,025 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1842:Lrp2bp
|
UTSW |
8 |
46,464,152 (GRCm39) |
missense |
probably benign |
|
|
R2191:Lrp2bp
|
UTSW |
8 |
46,466,206 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2192:Lrp2bp
|
UTSW |
8 |
46,466,206 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4716:Lrp2bp
|
UTSW |
8 |
46,466,208 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6722:Lrp2bp
|
UTSW |
8 |
46,473,600 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7643:Lrp2bp
|
UTSW |
8 |
46,473,564 (GRCm39) |
splice site |
probably null |
|
|
R8807:Lrp2bp
|
UTSW |
8 |
46,473,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9656:Lrp2bp
|
UTSW |
8 |
46,466,158 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCAGTTTGGGCCTTCAG -3'
(R):5'- ATGTGTGCAGTGACATCAGTATCC -3'
Sequencing Primer
(F):5'- GGGCCTTCAGTTCCAATATGGC -3'
(R):5'- GTGCAGTGACATCAGTATCCATTAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation