Incidental Mutation 'R0655:Scarb1'
| ID |
62472 |
| 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 |
038840-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0655 (G1)
|
| Quality Score |
102 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
125354151-125418158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125377504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 176
(V176A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086075]
[ENSMUST00000111390]
[ENSMUST00000137783]
|
| AlphaFold |
Q61009 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086075
AA Change: V176A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083242
Gene: ENSMUSG00000037936
AA Change: V176A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD36
|
16 |
463 |
6.4e-154 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111390
AA Change: V176A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107021
Gene: ENSMUSG00000037936
AA Change: V176A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD36
|
14 |
465 |
4.7e-158 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133624
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148373
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156532
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
C |
17: 36,268,737 (GRCm39) |
I757M |
probably benign |
Het |
| Abtb3 |
A |
G |
10: 85,481,390 (GRCm39) |
T931A |
probably damaging |
Het |
| Atg16l1 |
T |
A |
1: 87,694,551 (GRCm39) |
I76N |
probably damaging |
Het |
| Baz1b |
T |
A |
5: 135,271,284 (GRCm39) |
I1289N |
probably benign |
Het |
| Bcl2l15 |
T |
A |
3: 103,740,285 (GRCm39) |
|
probably null |
Het |
| Cbl |
G |
T |
9: 44,070,049 (GRCm39) |
T566K |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,919,482 (GRCm39) |
K180E |
probably benign |
Het |
| Cpxm2 |
G |
A |
7: 131,656,549 (GRCm39) |
T571I |
possibly damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,736,046 (GRCm39) |
Y485F |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,871 (GRCm39) |
Y350N |
possibly damaging |
Het |
| Dstn |
T |
A |
2: 143,780,342 (GRCm39) |
I14N |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,831,460 (GRCm39) |
S184G |
probably benign |
Het |
| Eif1a |
G |
T |
18: 46,741,130 (GRCm39) |
G122C |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 139,990,799 (GRCm39) |
T562S |
probably benign |
Het |
| Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,161,673 (GRCm39) |
N30S |
probably damaging |
Het |
| Gria2 |
C |
A |
3: 80,639,377 (GRCm39) |
E212* |
probably null |
Het |
| Gsdmc2 |
C |
T |
15: 63,699,622 (GRCm39) |
A269T |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,109,350 (GRCm39) |
V195A |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,321,061 (GRCm39) |
S2123P |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,160,519 (GRCm39) |
E519G |
probably benign |
Het |
| Htr2b |
A |
G |
1: 86,038,565 (GRCm39) |
S14P |
probably benign |
Het |
| Ifit1 |
T |
C |
19: 34,625,047 (GRCm39) |
V61A |
probably damaging |
Het |
| Ifitm1 |
C |
A |
7: 140,549,449 (GRCm39) |
F77L |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,345,346 (GRCm39) |
S118P |
probably benign |
Het |
| Mtmr3 |
C |
A |
11: 4,438,610 (GRCm39) |
D615Y |
probably damaging |
Het |
| Mtss1 |
C |
A |
15: 58,953,351 (GRCm39) |
C9F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,948,928 (GRCm39) |
S167P |
possibly damaging |
Het |
| Or1e34 |
T |
C |
11: 73,778,631 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,632 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or8b54 |
C |
T |
9: 38,686,850 (GRCm39) |
Q100* |
probably null |
Het |
| Oscp1 |
T |
C |
4: 125,952,526 (GRCm39) |
L18P |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,537,462 (GRCm39) |
S297P |
probably damaging |
Het |
| Phldb3 |
A |
T |
7: 24,323,797 (GRCm39) |
D476V |
probably benign |
Het |
| Phlpp2 |
A |
T |
8: 110,622,219 (GRCm39) |
I154L |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,846 (GRCm39) |
V449E |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,416,341 (GRCm39) |
S519P |
probably benign |
Het |
| Rnf138 |
T |
G |
18: 21,143,840 (GRCm39) |
V128G |
probably benign |
Het |
| Safb |
T |
A |
17: 56,904,803 (GRCm39) |
S209T |
probably benign |
Het |
| Sbno1 |
C |
A |
5: 124,514,212 (GRCm39) |
V1327L |
possibly damaging |
Het |
| Scd4 |
A |
G |
19: 44,327,407 (GRCm39) |
H161R |
possibly damaging |
Het |
| Selenoo |
T |
A |
15: 88,979,858 (GRCm39) |
H335Q |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,894,647 (GRCm39) |
F664S |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,626,217 (GRCm39) |
I1116M |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 54,901,690 (GRCm39) |
R835W |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,006,899 (GRCm39) |
E921G |
probably damaging |
Het |
| Tectb |
G |
A |
19: 55,178,302 (GRCm39) |
G234S |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,776,540 (GRCm39) |
M606I |
probably damaging |
Het |
| Tmed10 |
T |
A |
12: 85,390,291 (GRCm39) |
I88F |
probably damaging |
Het |
| Tnfrsf11a |
G |
A |
1: 105,735,880 (GRCm39) |
V31I |
unknown |
Het |
| Trp53inp2 |
G |
T |
2: 155,228,088 (GRCm39) |
G98* |
probably null |
Het |
| Tssc4 |
A |
G |
7: 142,623,782 (GRCm39) |
D30G |
probably damaging |
Het |
| Uaca |
T |
C |
9: 60,779,311 (GRCm39) |
Y1233H |
probably benign |
Het |
| Unc13c |
G |
A |
9: 73,838,235 (GRCm39) |
T872I |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,542,940 (GRCm39) |
H398R |
probably damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,207 (GRCm39) |
T112I |
probably benign |
Het |
| Vmn1r85 |
A |
G |
7: 12,818,650 (GRCm39) |
Y165H |
probably damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,319 (GRCm39) |
C748* |
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,102,233 (GRCm39) |
W929R |
probably damaging |
Het |
| Yeats2 |
A |
T |
16: 20,012,574 (GRCm39) |
K591* |
probably null |
Het |
| Zbtb9 |
T |
A |
17: 27,193,074 (GRCm39) |
S160T |
probably damaging |
Het |
| Znfx1 |
T |
A |
2: 166,898,827 (GRCm39) |
R32S |
probably damaging |
Het |
| Zng1 |
T |
C |
19: 24,930,684 (GRCm39) |
M122V |
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 |
|
|
R0317:Scarb1
|
UTSW |
5 |
125,366,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0455:Scarb1
|
UTSW |
5 |
125,366,745 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0491:Scarb1
|
UTSW |
5 |
125,375,795 (GRCm39) |
unclassified |
probably benign |
|
|
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'- CGCAAGCTGTGCCTCAAATCTTC -3'
(R):5'- ACAGGTTACCCTGGCAACAAGGAC -3'
Sequencing Primer
(F):5'- gccgcacctgaatgtaatcc -3'
(R):5'- CCAGAGAAAGGTCCATCCTGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation