Incidental Mutation 'R4051:Ldlrad3'
| ID |
314145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ldlrad3
|
| Ensembl Gene |
ENSMUSG00000048058 |
| Gene Name |
low density lipoprotein receptor class A domain containing 3 |
| Synonyms |
Lrad3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R4051 ()
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
101780548-102016730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101783507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 240
(D240N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058790]
[ENSMUST00000111222]
|
| AlphaFold |
A2AR95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058790
AA Change: D272N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054134
Gene: ENSMUSG00000048058
AA Change: D272N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LDLa
|
28 |
66 |
5.18e-12 |
SMART |
|
LDLa
|
70 |
108 |
2.82e-13 |
SMART |
|
LDLa
|
112 |
149 |
1.26e-10 |
SMART |
|
transmembrane domain
|
172 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111222
AA Change: D240N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106853
Gene: ENSMUSG00000048058
AA Change: D240N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LDLa
|
38 |
76 |
2.82e-13 |
SMART |
|
LDLa
|
80 |
117 |
1.26e-10 |
SMART |
|
transmembrane domain
|
140 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
286 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1294 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
| Ahnak |
A |
C |
19: 8,991,691 (GRCm39) |
D4325A |
probably damaging |
Het |
| Chtf18 |
A |
G |
17: 25,938,168 (GRCm39) |
V955A |
probably damaging |
Het |
| Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
| Disc1 |
A |
G |
8: 125,875,164 (GRCm39) |
T547A |
possibly damaging |
Het |
| Eif4b |
A |
G |
15: 101,995,039 (GRCm39) |
Y211C |
probably benign |
Het |
| Fli1 |
T |
G |
9: 32,363,458 (GRCm39) |
D176A |
probably benign |
Het |
| Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
G |
13: 70,751,646 (GRCm39) |
V1480A |
probably damaging |
Het |
| Ier5l |
A |
C |
2: 30,363,324 (GRCm39) |
S234A |
probably benign |
Het |
| Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
| Itga11 |
C |
T |
9: 62,662,933 (GRCm39) |
Q550* |
probably null |
Het |
| Kdr |
T |
A |
5: 76,129,068 (GRCm39) |
M193L |
probably benign |
Het |
| Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
| Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
| Or52m1 |
T |
C |
7: 102,290,233 (GRCm39) |
V260A |
possibly damaging |
Het |
| Peg10 |
T |
C |
6: 4,754,534 (GRCm39) |
L105P |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,912,824 (GRCm39) |
T717A |
possibly damaging |
Het |
| Ptafr |
T |
C |
4: 132,307,305 (GRCm39) |
W232R |
probably benign |
Het |
| Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
| Slamf7 |
T |
C |
1: 171,464,951 (GRCm39) |
K261E |
possibly damaging |
Het |
| Slc9c1 |
T |
A |
16: 45,363,593 (GRCm39) |
Y120N |
probably damaging |
Het |
| Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,030,404 (GRCm39) |
Y420C |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,062,070 (GRCm39) |
C1210R |
probably benign |
Het |
| Tnfsf10 |
T |
A |
3: 27,389,503 (GRCm39) |
I188N |
probably damaging |
Het |
| Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
| Usp46 |
T |
C |
5: 74,163,416 (GRCm39) |
N283S |
probably benign |
Het |
| Vmn2r84 |
T |
G |
10: 130,226,767 (GRCm39) |
N357T |
probably damaging |
Het |
| Zfp217 |
T |
C |
2: 169,954,536 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ldlrad3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03210:Ldlrad3
|
APN |
2 |
101,900,271 (GRCm39) |
splice site |
probably benign |
|
|
R4052:Ldlrad3
|
UTSW |
2 |
101,783,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4208:Ldlrad3
|
UTSW |
2 |
101,783,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Ldlrad3
|
UTSW |
2 |
101,900,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Ldlrad3
|
UTSW |
2 |
101,943,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Ldlrad3
|
UTSW |
2 |
101,888,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Ldlrad3
|
UTSW |
2 |
101,900,328 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5084:Ldlrad3
|
UTSW |
2 |
101,900,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Ldlrad3
|
UTSW |
2 |
101,943,954 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5631:Ldlrad3
|
UTSW |
2 |
101,900,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6714:Ldlrad3
|
UTSW |
2 |
101,783,297 (GRCm39) |
missense |
probably benign |
|
|
R6803:Ldlrad3
|
UTSW |
2 |
101,943,892 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7200:Ldlrad3
|
UTSW |
2 |
101,943,905 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7200:Ldlrad3
|
UTSW |
2 |
101,943,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7340:Ldlrad3
|
UTSW |
2 |
101,897,184 (GRCm39) |
splice site |
probably null |
|
|
R7456:Ldlrad3
|
UTSW |
2 |
101,785,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Ldlrad3
|
UTSW |
2 |
101,888,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9627:Ldlrad3
|
UTSW |
2 |
101,785,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATATGGACTTTGGAATCGCTG -3'
(R):5'- TCTCAGAACTGCCGTTGTTC -3'
Sequencing Primer
(F):5'- AGTCTCTGGGCTCAGCAGAG -3'
(R):5'- AACTGCCGTTGTTCTTGGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation