Incidental Mutation 'R6321:Scarb1'
| ID |
510338 |
| 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 |
044418-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
125354151-125418158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125381395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 50
(S50C)
|
| 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: S50C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083242
Gene: ENSMUSG00000037936
AA Change: S50C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD36
|
16 |
463 |
6.4e-154 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111390
AA Change: S50C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107021
Gene: ENSMUSG00000037936
AA Change: S50C
| 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 |
unknown
Transcript: ENSMUST00000137783
AA Change: Q38L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148373
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156532
|
| Meta Mutation Damage Score |
0.7264 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
T |
13: 111,391,915 (GRCm39) |
M83I |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,190 (GRCm39) |
M460K |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,799,189 (GRCm39) |
A31V |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,740,587 (GRCm39) |
|
probably benign |
Het |
| Arrdc4 |
C |
A |
7: 68,398,793 (GRCm39) |
D8Y |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,494,953 (GRCm39) |
Y110H |
probably damaging |
Het |
| Blnk |
A |
T |
19: 40,922,903 (GRCm39) |
Y405N |
probably damaging |
Het |
| Capsl |
T |
C |
15: 9,461,855 (GRCm39) |
F84L |
probably damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,858,735 (GRCm39) |
|
probably null |
Het |
| Cenpl |
T |
C |
1: 160,902,465 (GRCm39) |
S46P |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chrnd |
C |
T |
1: 87,119,951 (GRCm39) |
R90C |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,182,347 (GRCm39) |
M37K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,106,027 (GRCm39) |
E625G |
possibly damaging |
Het |
| Dnah5 |
T |
G |
15: 28,372,557 (GRCm39) |
V2936G |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,783,433 (GRCm39) |
M2055T |
probably damaging |
Het |
| Epb41l2 |
A |
T |
10: 25,344,026 (GRCm39) |
R274S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,433,139 (GRCm39) |
H371L |
probably damaging |
Het |
| Evi5l |
C |
A |
8: 4,253,080 (GRCm39) |
P454T |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,738,559 (GRCm39) |
C2299* |
probably null |
Het |
| Heca |
G |
C |
10: 17,790,991 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
C |
T |
13: 14,697,414 (GRCm39) |
A9T |
probably benign |
Het |
| Hs3st6 |
T |
A |
17: 24,977,542 (GRCm39) |
W341R |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,107,533 (GRCm39) |
S1571L |
probably benign |
Het |
| Klk1b9 |
A |
G |
7: 43,443,732 (GRCm39) |
E82G |
probably damaging |
Het |
| Ltbp3 |
C |
A |
19: 5,795,685 (GRCm39) |
H180Q |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,034,741 (GRCm39) |
Y502H |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,843,165 (GRCm39) |
V372A |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,879 (GRCm39) |
D250G |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,287,397 (GRCm39) |
D191G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or4f59 |
A |
G |
2: 111,873,113 (GRCm39) |
V88A |
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,018,109 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,594,015 (GRCm39) |
V1342A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,151 (GRCm39) |
E789G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,532,783 (GRCm39) |
T1471A |
probably benign |
Het |
| Slc4a8 |
C |
T |
15: 100,687,045 (GRCm39) |
T283M |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,462,814 (GRCm39) |
D601E |
probably benign |
Het |
| Snx6 |
C |
A |
12: 54,798,798 (GRCm39) |
V221F |
probably damaging |
Het |
| Spag17 |
A |
C |
3: 99,995,743 (GRCm39) |
K1794T |
probably benign |
Het |
| Tpo |
A |
G |
12: 30,153,107 (GRCm39) |
W416R |
probably damaging |
Het |
| Ttc13 |
C |
A |
8: 125,409,930 (GRCm39) |
K427N |
probably damaging |
Het |
| Upf3a |
A |
T |
8: 13,837,466 (GRCm39) |
N137I |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,581,243 (GRCm39) |
Q3708* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,852,816 (GRCm39) |
F33L |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,763,876 (GRCm39) |
F408L |
probably damaging |
Het |
| Zfp639 |
T |
C |
3: 32,571,237 (GRCm39) |
Y40H |
probably 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 |
|
|
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 |
|
|
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'- TCCAAAACTCAGCATGGCAG -3'
(R):5'- AAGACACGCCTCTTCCTCCG -3'
Sequencing Primer
(F):5'- TCAGCATGGCAGAACACC -3'
(R):5'- GCTAAGCTGCAAATATCTGAGCCTG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation