Incidental Mutation 'IGL03260:Scarb2'
| ID |
414782 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scarb2
|
| Ensembl Gene |
ENSMUSG00000029426 |
| Gene Name |
scavenger receptor class B, member 2 |
| Synonyms |
LGP85, Cd36l2, 9330185J12Rik, LIMP-2, LIMP II |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL03260
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92589170-92653516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 92594296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 422
(A422E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031377]
|
| AlphaFold |
O35114 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031377
AA Change: A422E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031377
Gene: ENSMUSG00000029426
AA Change: A422E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD36
|
11 |
457 |
6.8e-154 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a CD36-like type III transmembrane glycoprotein that localizes to the lysosomal membrane. Mice lacking the encoded protein exhibit an increased postnatal mortality caused by an obstruction of the ureteropelvic junction, deafness, peripheral demyelinating neuropathy and tubular proteinuria. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous mutation of this gene results in renal dysfunction, progressive deafness, and progressive demylination of the peripheral nerves. Mutant animals show a 2-fold increased water consumption along with increased urine volume, and develop an enlarged, ball-like trunk with age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933406P04Rik |
A |
G |
10: 20,187,071 (GRCm39) |
|
probably benign |
Het |
| Abca12 |
A |
G |
1: 71,323,258 (GRCm39) |
L1608P |
probably damaging |
Het |
| Akr1b8 |
G |
T |
6: 34,340,394 (GRCm39) |
|
probably benign |
Het |
| Appbp2 |
A |
G |
11: 85,107,283 (GRCm39) |
V69A |
probably benign |
Het |
| Ces1e |
T |
C |
8: 93,950,545 (GRCm39) |
N79D |
probably benign |
Het |
| Cldn34b3 |
A |
G |
X: 75,310,479 (GRCm39) |
T16A |
probably damaging |
Het |
| Frmd4b |
A |
T |
6: 97,373,185 (GRCm39) |
F103Y |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 48,986,932 (GRCm39) |
F233S |
probably damaging |
Het |
| Igkv8-30 |
A |
T |
6: 70,094,339 (GRCm39) |
M24K |
probably damaging |
Het |
| Krt72 |
C |
T |
15: 101,686,708 (GRCm39) |
A413T |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,250 (GRCm39) |
T63A |
probably benign |
Het |
| Naa35 |
T |
G |
13: 59,775,699 (GRCm39) |
S125A |
probably benign |
Het |
| Or6c76 |
T |
C |
10: 129,612,521 (GRCm39) |
V261A |
probably damaging |
Het |
| Or6z7 |
A |
T |
7: 6,483,658 (GRCm39) |
C166S |
probably damaging |
Het |
| Padi1 |
T |
C |
4: 140,555,505 (GRCm39) |
H240R |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,097,106 (GRCm39) |
T240A |
probably benign |
Het |
| Ppp2ca |
A |
G |
11: 52,003,975 (GRCm39) |
N44S |
probably damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,378 (GRCm39) |
|
probably benign |
Het |
| Rab33a |
A |
G |
X: 47,608,545 (GRCm39) |
E23G |
probably benign |
Het |
| Scn4b |
A |
T |
9: 45,058,987 (GRCm39) |
N86I |
probably damaging |
Het |
| Serpina1d |
G |
A |
12: 103,730,108 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc12a3 |
T |
A |
8: 95,059,870 (GRCm39) |
I172N |
probably damaging |
Het |
| Slc18a1 |
T |
C |
8: 69,527,766 (GRCm39) |
E15G |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,575,942 (GRCm39) |
|
probably benign |
Het |
| Srpx |
T |
A |
X: 9,921,987 (GRCm39) |
K216* |
probably null |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,838,626 (GRCm39) |
S742P |
probably benign |
Het |
| Vmn2r104 |
C |
T |
17: 20,263,083 (GRCm39) |
C126Y |
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,578,616 (GRCm39) |
N92K |
probably damaging |
Het |
|
| Other mutations in Scarb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Scarb2
|
APN |
5 |
92,594,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01743:Scarb2
|
APN |
5 |
92,608,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02182:Scarb2
|
APN |
5 |
92,601,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02602:Scarb2
|
APN |
5 |
92,596,415 (GRCm39) |
missense |
probably benign |
0.12 |
|
scarab
|
UTSW |
5 |
92,599,205 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1332:Scarb2
|
UTSW |
5 |
92,599,205 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1335:Scarb2
|
UTSW |
5 |
92,599,205 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1526:Scarb2
|
UTSW |
5 |
92,594,200 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1748:Scarb2
|
UTSW |
5 |
92,608,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Scarb2
|
UTSW |
5 |
92,596,416 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1928:Scarb2
|
UTSW |
5 |
92,592,125 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4952:Scarb2
|
UTSW |
5 |
92,602,636 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5702:Scarb2
|
UTSW |
5 |
92,599,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6868:Scarb2
|
UTSW |
5 |
92,633,168 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7000:Scarb2
|
UTSW |
5 |
92,601,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7429:Scarb2
|
UTSW |
5 |
92,633,093 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8038:Scarb2
|
UTSW |
5 |
92,599,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Scarb2
|
UTSW |
5 |
92,608,716 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation