Incidental Mutation 'R1248:Lrp11'
| ID |
152197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrp11
|
| Ensembl Gene |
ENSMUSG00000019796 |
| Gene Name |
low density lipoprotein receptor-related protein 11 |
| Synonyms |
1700034J19Rik, 9830160H19Rik |
| MMRRC Submission |
039315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R1248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
7465564-7501247 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7480058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 371
(H371R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019931]
[ENSMUST00000124961]
[ENSMUST00000130590]
[ENSMUST00000134346]
[ENSMUST00000135907]
|
| AlphaFold |
Q8CB67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019931
AA Change: H371R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000019931
Gene: ENSMUSG00000019796
AA Change: H371R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
MANEC
|
69 |
172 |
1.24e-42 |
SMART |
|
PKD
|
198 |
283 |
7.62e-2 |
SMART |
|
LDLa
|
293 |
330 |
9.45e-6 |
SMART |
|
transmembrane domain
|
434 |
456 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124961
AA Change: H115R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114479
Gene: ENSMUSG00000019796
AA Change: H115R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PKD
|
1 |
69 |
2e-42 |
BLAST |
|
transmembrane domain
|
178 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130590
AA Change: H371R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000121704
Gene: ENSMUSG00000019796
AA Change: H371R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
MANEC
|
69 |
172 |
1.24e-42 |
SMART |
|
PKD
|
198 |
283 |
7.62e-2 |
SMART |
|
LDLa
|
293 |
330 |
9.45e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131528
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134346
AA Change: H376R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000122853
Gene: ENSMUSG00000019796
AA Change: H376R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
MANEC
|
69 |
172 |
1.24e-42 |
SMART |
|
PKD
|
198 |
288 |
1.59e-1 |
SMART |
|
LDLa
|
298 |
335 |
9.45e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135907
|
| SMART Domains |
Protein: ENSMUSP00000122359
Gene: ENSMUSG00000019796
| Domain | Start | End | E-Value | Type |
|---|
|
MANEC
|
44 |
147 |
1.24e-42 |
SMART |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
T |
10: 10,271,054 (GRCm39) |
F863Y |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,847 (GRCm39) |
E219G |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,564,399 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ap5z1 |
C |
A |
5: 142,460,255 (GRCm39) |
S511R |
probably benign |
Het |
| Arhgap11a |
T |
A |
2: 113,664,447 (GRCm39) |
H612L |
possibly damaging |
Het |
| Atp2b2 |
G |
T |
6: 113,794,153 (GRCm39) |
S118Y |
probably damaging |
Het |
| Boc |
A |
T |
16: 44,340,836 (GRCm39) |
M38K |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,599,481 (GRCm39) |
E773D |
possibly damaging |
Het |
| Clxn |
A |
G |
16: 14,742,001 (GRCm39) |
M212V |
probably benign |
Het |
| Dmtn |
C |
T |
14: 70,850,098 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,832,887 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,410,358 (GRCm39) |
N184S |
probably benign |
Het |
| Fam98c |
A |
G |
7: 28,852,265 (GRCm39) |
M98T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,143,529 (GRCm39) |
K2867E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,820,107 (GRCm39) |
E5280V |
possibly damaging |
Het |
| Fuom |
T |
C |
7: 139,679,631 (GRCm39) |
|
probably benign |
Het |
| Gm3476 |
A |
T |
14: 6,118,512 (GRCm38) |
S204T |
probably benign |
Het |
| Grhl3 |
A |
G |
4: 135,288,617 (GRCm39) |
F23L |
probably benign |
Het |
| Il4i1 |
G |
T |
7: 44,489,213 (GRCm39) |
R334L |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,758,228 (GRCm39) |
S712P |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,932,843 (GRCm39) |
S573I |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,466,303 (GRCm39) |
I520N |
probably damaging |
Het |
| Nagpa |
G |
T |
16: 5,016,480 (GRCm39) |
C236* |
probably null |
Het |
| Nktr |
A |
G |
9: 121,556,436 (GRCm39) |
N38S |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,525,088 (GRCm39) |
R131C |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,231,211 (GRCm39) |
D386G |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,100,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,121,755 (GRCm39) |
|
probably benign |
Het |
| S100a4 |
G |
T |
3: 90,513,084 (GRCm39) |
S60I |
possibly damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,059,905 (GRCm39) |
G184C |
probably damaging |
Het |
| Slc25a46 |
C |
T |
18: 31,742,807 (GRCm39) |
D20N |
possibly damaging |
Het |
| Smc3 |
A |
G |
19: 53,622,509 (GRCm39) |
K695E |
probably benign |
Het |
| Speer2 |
A |
T |
16: 69,653,955 (GRCm39) |
|
probably null |
Het |
| Taar4 |
T |
G |
10: 23,836,936 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ttll1 |
C |
G |
15: 83,386,326 (GRCm39) |
S93T |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,443,008 (GRCm39) |
|
probably null |
Het |
| Vmn2r16 |
A |
G |
5: 109,508,643 (GRCm39) |
N457S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,396 (GRCm39) |
E528G |
probably benign |
Het |
| Zfp52 |
A |
C |
17: 21,780,311 (GRCm39) |
E53A |
probably damaging |
Het |
|
| Other mutations in Lrp11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03123:Lrp11
|
APN |
10 |
7,478,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Lrp11
|
UTSW |
10 |
7,466,060 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1822:Lrp11
|
UTSW |
10 |
7,471,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Lrp11
|
UTSW |
10 |
7,499,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Lrp11
|
UTSW |
10 |
7,499,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Lrp11
|
UTSW |
10 |
7,499,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Lrp11
|
UTSW |
10 |
7,499,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Lrp11
|
UTSW |
10 |
7,466,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4784:Lrp11
|
UTSW |
10 |
7,479,965 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6192:Lrp11
|
UTSW |
10 |
7,474,454 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6916:Lrp11
|
UTSW |
10 |
7,484,478 (GRCm39) |
splice site |
probably null |
|
|
R7622:Lrp11
|
UTSW |
10 |
7,465,936 (GRCm39) |
missense |
unknown |
|
|
R7697:Lrp11
|
UTSW |
10 |
7,479,983 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGATGATAGTTCTTCAGCATCCG -3'
(R):5'- GGGCTCTTCCACTTATATACAGCTCCA -3'
Sequencing Primer
(F):5'- gagagagagagagagagagagag -3'
(R):5'- ttttgttttgttttgctttgtttGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation