Incidental Mutation 'R0317:Scarb1'
ID |
25445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scarb1
|
Ensembl Gene |
ENSMUSG00000037936 |
Gene Name |
scavenger receptor class B, member 1 |
Synonyms |
Cd36l1, Srb1, Hdlq1, SRBI, D5Ertd460e, Chohd1, SR-BI, Cla-1, Chohd1, Hlb398 |
MMRRC Submission |
038527-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0317 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
125354151-125418158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125366756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 59
(V59A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086075]
[ENSMUST00000111390]
[ENSMUST00000127148]
|
AlphaFold |
Q61009 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086075
AA Change: V358A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000083242 Gene: ENSMUSG00000037936 AA Change: V358A
Domain | Start | End | E-Value | Type |
Pfam:CD36
|
16 |
463 |
6.4e-154 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111390
AA Change: V358A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107021 Gene: ENSMUSG00000037936 AA Change: V358A
Domain | Start | End | E-Value | Type |
Pfam:CD36
|
14 |
465 |
4.7e-158 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000127148
AA Change: V59A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122100 Gene: ENSMUSG00000037936 AA Change: V59A
Domain | Start | End | E-Value | Type |
Pfam:CD36
|
1 |
123 |
1.2e-43 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135736
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148373
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011] PHENOTYPE: Targeted mutations result in abnormal lipoprotein metablolism and, for one allele, reversible female infertility. An ENU mutant shows increased cholesterol levels. [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 |
Abca13 |
T |
C |
11: 9,243,459 (GRCm39) |
V1774A |
probably damaging |
Het |
Adam34 |
G |
A |
8: 44,105,288 (GRCm39) |
P119L |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,113,429 (GRCm39) |
|
probably null |
Het |
Arfip2 |
G |
A |
7: 105,286,430 (GRCm39) |
T124M |
probably damaging |
Het |
Arhgef26 |
T |
C |
3: 62,330,965 (GRCm39) |
S560P |
probably damaging |
Het |
Bcl11a |
A |
T |
11: 24,122,697 (GRCm39) |
|
probably null |
Het |
Cab39 |
A |
G |
1: 85,776,881 (GRCm39) |
E322G |
probably damaging |
Het |
Cad |
C |
A |
5: 31,229,665 (GRCm39) |
P1382Q |
probably benign |
Het |
Cc2d2a |
T |
C |
5: 43,864,243 (GRCm39) |
|
probably null |
Het |
Cela2a |
A |
T |
4: 141,549,011 (GRCm39) |
|
probably null |
Het |
Cert1 |
C |
T |
13: 96,770,629 (GRCm39) |
R487* |
probably null |
Het |
Ces1e |
A |
C |
8: 93,950,667 (GRCm39) |
I38S |
probably benign |
Het |
Ces1f |
A |
T |
8: 93,990,019 (GRCm39) |
F364I |
probably benign |
Het |
Chgb |
A |
G |
2: 132,635,731 (GRCm39) |
T558A |
probably benign |
Het |
Cnpy4 |
C |
T |
5: 138,191,074 (GRCm39) |
Q217* |
probably null |
Het |
Crlf1 |
A |
G |
8: 70,951,249 (GRCm39) |
T43A |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,173,816 (GRCm39) |
M707K |
probably damaging |
Het |
Ets2 |
G |
A |
16: 95,513,193 (GRCm39) |
S123N |
probably damaging |
Het |
Fry |
T |
C |
5: 150,394,933 (GRCm39) |
F304S |
probably damaging |
Het |
Gadd45gip1 |
G |
A |
8: 85,560,745 (GRCm39) |
R120H |
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,242,459 (GRCm39) |
T96A |
probably benign |
Het |
Ggn |
T |
A |
7: 28,870,515 (GRCm39) |
M1K |
probably null |
Het |
Gm5239 |
A |
G |
18: 35,669,969 (GRCm39) |
T112A |
probably benign |
Het |
Insyn2b |
C |
A |
11: 34,352,826 (GRCm39) |
D289E |
possibly damaging |
Het |
Kifbp |
A |
T |
10: 62,413,861 (GRCm39) |
|
probably null |
Het |
Lrrc15 |
A |
T |
16: 30,092,561 (GRCm39) |
H259Q |
probably benign |
Het |
Lysmd4 |
A |
G |
7: 66,876,045 (GRCm39) |
Y236C |
probably damaging |
Het |
Med29 |
T |
C |
7: 28,086,284 (GRCm39) |
T175A |
possibly damaging |
Het |
Mfsd12 |
G |
T |
10: 81,193,633 (GRCm39) |
D68Y |
probably damaging |
Het |
Myh1 |
T |
C |
11: 67,108,338 (GRCm39) |
L1308P |
probably damaging |
Het |
Nphp4 |
T |
A |
4: 152,636,388 (GRCm39) |
|
probably null |
Het |
Or8g30 |
A |
G |
9: 39,230,757 (GRCm39) |
I51T |
probably benign |
Het |
Pdhx |
A |
G |
2: 102,858,625 (GRCm39) |
V393A |
probably benign |
Het |
Pgm5 |
A |
G |
19: 24,801,763 (GRCm39) |
I155T |
possibly damaging |
Het |
Pgr |
A |
T |
9: 8,965,023 (GRCm39) |
I889F |
probably benign |
Het |
Phactr4 |
T |
A |
4: 132,114,241 (GRCm39) |
K51I |
probably damaging |
Het |
Pum2 |
T |
A |
12: 8,778,754 (GRCm39) |
I468K |
possibly damaging |
Het |
Rab11a |
A |
G |
9: 64,632,835 (GRCm39) |
S24P |
probably damaging |
Het |
Rasef |
T |
C |
4: 73,666,799 (GRCm39) |
Q160R |
probably damaging |
Het |
Rbl2 |
A |
G |
8: 91,813,772 (GRCm39) |
D339G |
probably benign |
Het |
Recql5 |
A |
G |
11: 115,785,499 (GRCm39) |
S666P |
probably benign |
Het |
Rfc1 |
A |
T |
5: 65,453,395 (GRCm39) |
|
probably null |
Het |
Slc2a4 |
C |
T |
11: 69,837,182 (GRCm39) |
V85M |
probably damaging |
Het |
Slc6a12 |
A |
G |
6: 121,335,584 (GRCm39) |
I291V |
possibly damaging |
Het |
Slco3a1 |
A |
C |
7: 74,154,174 (GRCm39) |
Y104D |
probably damaging |
Het |
Suz12 |
T |
A |
11: 79,889,904 (GRCm39) |
D13E |
probably damaging |
Het |
Tlr1 |
G |
T |
5: 65,083,310 (GRCm39) |
C422* |
probably null |
Het |
Tmco1 |
T |
C |
1: 167,153,462 (GRCm39) |
V114A |
probably damaging |
Het |
Trpa1 |
T |
C |
1: 14,951,856 (GRCm39) |
T948A |
probably benign |
Het |
Tub |
A |
T |
7: 108,620,134 (GRCm39) |
N93Y |
probably damaging |
Het |
Ufsp2 |
G |
A |
8: 46,445,270 (GRCm39) |
|
probably null |
Het |
Veph1 |
T |
C |
3: 66,079,396 (GRCm39) |
D373G |
probably benign |
Het |
Vmn1r206 |
A |
G |
13: 22,805,130 (GRCm39) |
S26P |
possibly damaging |
Het |
Vmn2r1 |
T |
C |
3: 63,989,240 (GRCm39) |
S60P |
possibly damaging |
Het |
Wdcp |
A |
G |
12: 4,901,583 (GRCm39) |
S480G |
probably benign |
Het |
Wnk4 |
T |
C |
11: 101,159,630 (GRCm39) |
S612P |
probably benign |
Het |
Zfp503 |
T |
C |
14: 22,036,527 (GRCm39) |
K130E |
probably benign |
Het |
Zkscan16 |
G |
A |
4: 58,957,602 (GRCm39) |
C628Y |
possibly damaging |
Het |
|
Other mutations in Scarb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03355:Scarb1
|
APN |
5 |
125,366,766 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03052:Scarb1
|
UTSW |
5 |
125,371,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R0051:Scarb1
|
UTSW |
5 |
125,358,164 (GRCm39) |
splice site |
probably null |
|
R0455:Scarb1
|
UTSW |
5 |
125,366,745 (GRCm39) |
missense |
probably damaging |
0.96 |
R0491:Scarb1
|
UTSW |
5 |
125,375,795 (GRCm39) |
unclassified |
probably benign |
|
R0655:Scarb1
|
UTSW |
5 |
125,377,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R0676:Scarb1
|
UTSW |
5 |
125,374,278 (GRCm39) |
unclassified |
probably benign |
|
R2074:Scarb1
|
UTSW |
5 |
125,371,207 (GRCm39) |
missense |
probably benign |
|
R2267:Scarb1
|
UTSW |
5 |
125,364,439 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3951:Scarb1
|
UTSW |
5 |
125,364,475 (GRCm39) |
missense |
probably damaging |
0.99 |
R4080:Scarb1
|
UTSW |
5 |
125,354,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4452:Scarb1
|
UTSW |
5 |
125,377,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R4925:Scarb1
|
UTSW |
5 |
125,374,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R5669:Scarb1
|
UTSW |
5 |
125,377,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R5809:Scarb1
|
UTSW |
5 |
125,381,286 (GRCm39) |
missense |
probably damaging |
0.98 |
R5872:Scarb1
|
UTSW |
5 |
125,381,341 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5883:Scarb1
|
UTSW |
5 |
125,417,971 (GRCm39) |
unclassified |
probably benign |
|
R6321:Scarb1
|
UTSW |
5 |
125,381,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R6508:Scarb1
|
UTSW |
5 |
125,381,389 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6618:Scarb1
|
UTSW |
5 |
125,381,394 (GRCm39) |
missense |
probably damaging |
0.96 |
R6931:Scarb1
|
UTSW |
5 |
125,361,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R7058:Scarb1
|
UTSW |
5 |
125,374,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R7099:Scarb1
|
UTSW |
5 |
125,381,414 (GRCm39) |
missense |
probably damaging |
0.98 |
R7146:Scarb1
|
UTSW |
5 |
125,361,089 (GRCm39) |
missense |
probably benign |
|
R7830:Scarb1
|
UTSW |
5 |
125,364,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R7873:Scarb1
|
UTSW |
5 |
125,371,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R8158:Scarb1
|
UTSW |
5 |
125,380,201 (GRCm39) |
missense |
probably benign |
0.01 |
R8467:Scarb1
|
UTSW |
5 |
125,375,731 (GRCm39) |
missense |
probably damaging |
0.99 |
R8500:Scarb1
|
UTSW |
5 |
125,371,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R8814:Scarb1
|
UTSW |
5 |
125,371,156 (GRCm39) |
missense |
probably benign |
0.00 |
R9025:Scarb1
|
UTSW |
5 |
125,381,414 (GRCm39) |
missense |
probably damaging |
0.98 |
R9169:Scarb1
|
UTSW |
5 |
125,371,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R9462:Scarb1
|
UTSW |
5 |
125,417,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R9685:Scarb1
|
UTSW |
5 |
125,371,194 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9699:Scarb1
|
UTSW |
5 |
125,374,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGAAGGAACTGAACTCCCCTG -3'
(R):5'- CCAACACTGTAATCGGCCACTCTG -3'
Sequencing Primer
(F):5'- CCTGCCTCAGTTGGAACC -3'
(R):5'- CTTCCCAGGTCCTGTGTGTG -3'
|
Posted On |
2013-04-16 |